LRRIQ3

Chr 1

leucine rich repeats and IQ motif containing 3

Also known as: LRRC44

NCBI Gene: 127255 ENSG00000162620 UniProt: A6PVS8 OMIM: 617957

The LRRIQ3 protein is a leucine-rich repeat and IQ domain-containing protein that functions in ciliary motility and structure. Mutations cause primary ciliary dyskinesia, an autosomal recessive disorder characterized by chronic respiratory infections, situs inversus, and male infertility due to defective cilia and flagella function. The gene shows moderate constraint against loss-of-function variants, consistent with its role in this recessive ciliopathy.

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.22

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.22LOEUF

pLI 0.000

Z-score 0.68

OE 0.85 (0.61–1.22)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.82Z-score

OE missense 1.14 (1.04–1.25)

327 obs / 287.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.85 (0.61–1.22)

0≤0.351.4

Missense OE?1.14 (1.04–1.25)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 22 / 25.7Missense obs/exp: 327 / 287.7Syn Z: -0.55

Background carrier burden — how many people carry a rare variant somewhere in LRRIQ3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 49

948 rare PASS variants

Rare truncating (LoF)

1 in 170

233 rare PASS variants

Rare synonymous (reference)

1 in 210

280 rare PASS variants

Rare missense and truncating variants are carried at similar rates in LRRIQ3; this gene does not show strong loss-of-function constraint by this measure. 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 82	1 in 200
South Asian	~43k	1 in 38	1 in 110
Remaining (unassigned)	~30k	1 in 42	1 in 120
European (Finnish)	~27k	1 in 120	1 in 670
Admixed American	~22k	1 in 46	1 in 150
African / African American	~21k	1 in 57	1 in 190
East Asian	~20k	1 in 85	1 in 110
Ashkenazi Jewish	~13k	1 in 450	1 in 510
Middle Eastern	~2,883	1 in 50	1 in 180

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 3 of 7 coding exons well covered in gnomAD exomes; exons 4, 5, 6, 8 marginal. Genomes: all 7.? see exons ↓