OR5M9

Chr 11

olfactory receptor family 5 subfamily M member 9

Also known as: OR11-190

NCBI Gene: 390162 ENSG00000150269 UniProt: Q8NGP3

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.62

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.62LOEUF

pLI 0.004

Z-score 0.54

OE 0.75 (0.37–1.62)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.28Z-score

OE missense 1.27 (1.14–1.42)

223 obs / 175.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.75 (0.37–1.62)

0≤0.351.4

Missense OE?1.27 (1.14–1.42)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 4 / 5.3Missense obs/exp: 223 / 175.4Syn Z: -1.22

Background carrier burden — how many people carry a rare variant somewhere in OR5M9?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 83

495 rare PASS variants

Rare truncating (LoF)

1 in 3,100

58 rare PASS variants

Rare synonymous (reference)

1 in 260

186 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR5M9. 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 150	1 in 3,900
South Asian	~43k	1 in 100	1 in 7,200
Remaining (unassigned)	~30k	1 in 46	1 in 3,000
European (Finnish)	~27k	1 in 450	≈ 1 in 27,000
Admixed American	~22k	1 in 70	1 in 1,600
African / African American	~21k	1 in 97	1 in 1,800
East Asian	~20k	1 in 150	1 in 1,000
Ashkenazi Jewish	~13k	1 in 360	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 100	≈ 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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓