SUCNR1

Chr 3

succinate receptor 1

Also known as: GPR91

NCBI Gene: 56670 ENSG00000198829 UniProt: Q9BXA5 OMIM: 606381

This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.001

Z-score 1.05

OE 0.63 (0.34–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.15Z-score

OE missense 0.97 (0.85–1.10)

170 obs / 175.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.63 (0.34–1.25)

0≤0.351.4

Missense OE?0.97 (0.85–1.10)

0≤0.61.4

Synonymous OE?1.14

0≤1.21.6

LoF obs/exp: 6 / 9.5Missense obs/exp: 170 / 175.8Syn Z: -0.86

Background carrier burden — how many people carry a rare variant somewhere in SUCNR1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

397 rare PASS variants

Rare truncating (LoF)

1 in 1,700

81 rare PASS variants

Rare synonymous (reference)

1 in 240

175 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SUCNR1. 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 280	1 in 4,900
South Asian	~43k	1 in 200	1 in 1,300
Remaining (unassigned)	~30k	1 in 150	1 in 1,700
European (Finnish)	~27k	1 in 630	1 in 4,400
Admixed American	~22k	1 in 150	1 in 1,700
African / African American	~21k	1 in 71	1 in 970
East Asian	~20k	1 in 250	1 in 1,200
Ashkenazi Jewish	~13k	1 in 750	none seen
Middle Eastern	~2,884	1 in 140	≈ 1 in 960

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): 1 of 2 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 2.? see exons ↓