MUC15

Chr 11

mucin 15, cell surface associated

Also known as: MUC-15, PAS3, PASIII

NCBI Gene: 143662 ENSG00000169550 UniProt: Q8N387 OMIM: 608566

The protein is predicted to function in cell adhesion to the extracellular matrix and localizes to the Golgi lumen and plasma membrane. MUC15 has very low constraint against loss-of-function variants (pLI 0.00005, LOEUF 1.27), and no established Mendelian disease associations have been reported for this gene.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.27

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.27LOEUF

pLI 0.000

Z-score 0.93

OE 0.70 (0.41–1.27)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.56Z-score

OE missense 1.11 (0.99–1.25)

209 obs / 187.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.70 (0.41–1.27)

0≤0.351.4

Missense OE?1.11 (0.99–1.25)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 8 / 11.4Missense obs/exp: 209 / 187.5Syn Z: 0.88

Background carrier burden — how many people carry a rare variant somewhere in MUC15?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 88

473 rare PASS variants

Rare truncating (LoF)

1 in 960

77 rare PASS variants

Rare synonymous (reference)

1 in 390

165 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MUC15. 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 1,100
South Asian	~43k	1 in 120	1 in 580
Remaining (unassigned)	~30k	1 in 130	1 in 1,100
European (Finnish)	~27k	1 in 520	1 in 1,500
Admixed American	~22k	1 in 130	1 in 780
African / African American	~21k	1 in 110	1 in 1,000
East Asian	~20k	1 in 120	1 in 420
Ashkenazi Jewish	~13k	1 in 390	≈ 1 in 6,000
Middle Eastern	~2,884	1 in 68	≈ 1 in 900

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): 3 of 4 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 4.? see exons ↓