MRPS25

Chr 3AR

mitochondrial ribosomal protein S25

Also known as: COXPD50, MRP-S25, RPMS25, mS25

NCBI Gene: 64432ENSG00000131368UniProt: P82663OMIM: 611987

This gene encodes a protein component of the mitochondrial ribosome's small 28S subunit that is essential for protein synthesis within mitochondria. Mutations cause combined oxidative phosphorylation deficiency 50, inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variation (pLI 0.0005, LOEUF 1.38), which is consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

OMIMResearchSummary from RefSeq, OMIM
DNmechanismARLOEUF 1.381 OMIM phenotype
Clinical Summary— MRPS25
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Gene-Disease Validity (ClinGen)
mitochondrial disease · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
24 unique Pathogenic / Likely Pathogenic· 37 VUS of 69 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.38LOEUF
pLI 0.000
Z-score 0.81
OE 0.70 (0.38–1.38)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.81Z-score
OE missense 0.77 (0.63–0.93)
73 obs / 95.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.70 (0.38–1.38)
0≤0.351.4
Missense OE0.77 (0.63–0.93)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 6 / 8.6Missense obs/exp: 73 / 95.2Syn Z: 0.21
DN
0.6649th %ile
GOF
0.5170th %ile
LOF
0.3164th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

69 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic1
VUS37
Likely Benign2
23
Pathogenic
1
Likely Pathogenic
37
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
22
0
23
Likely Pathogenic
0
0
1
0
1
VUS
0
35
2
0
37
Likely Benign
0
0
0
2
2
Benign
0
0
0
0
0
Total03625263

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MRPS25 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients