PAQR5

Chr 15

progestin and adipoQ receptor family member 5

Also known as: MPRG

NCBI Gene: 54852 ENSG00000137819 UniProt: Q9NXK6 OMIM: 607781

Predicted to enable signaling receptor activity. Predicted to be involved in oogenesis. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to enable signaling receptor activity. Predicted to be involved in oogenesis. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.70

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.70LOEUF

pLI 0.037

Z-score 2.38

OE 0.34 (0.17–0.70)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.77Z-score

OE missense 0.84 (0.74–0.96)

161 obs / 191.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.34 (0.17–0.70)

0≤0.351.4

Missense OE?0.84 (0.74–0.96)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 5 / 14.9Missense obs/exp: 161 / 191.0Syn Z: 0.30

Background carrier burden — how many people carry a rare variant somewhere in PAQR5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 200

415 rare PASS variants

Rare truncating (LoF)

1 in 1,800

57 rare PASS variants

Rare synonymous (reference)

1 in 300

142 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PAQR5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 220	1 in 1,900
South Asian	~43k	1 in 200	1 in 2,700
Remaining (unassigned)	~30k	1 in 170	1 in 3,800
European (Finnish)	~27k	1 in 410	≈ 1 in 8,900
Admixed American	~22k	1 in 200	1 in 2,800
African / African American	~21k	1 in 140	1 in 900
East Asian	~20k	1 in 170	≈ 1 in 6,600
Ashkenazi Jewish	~13k	1 in 530	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 290	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓