GPR149

G protein-coupled receptor 149, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 3:154334943-154430190

Links

ENSG00000174948

∙ NCBI:344758 ∙ ∙ HGNC:23627 ∙ Uniprot:Q86SP6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR149 gene.

not_specified (100 variants)
not_provided (1 variants)
Hypertrophic_cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR149 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001038705.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			99 clinvar	2 clinvar		101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	99	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR149	protein_coding	protein_coding	ENST00000389740	4	92044

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.37e-9	0.586	124685	0	112	124797	0.000449

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.932	450	398	1.13	0.0000192	4773
Missense in Polyphen		138	132.48	1.0416		1638
Synonymous	-1.68	193	165	1.17	0.00000837	1505
Loss of Function	1.20	16	22.1	0.725	0.00000101	287

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00153	0.00153
Ashkenazi Jewish	0.000100	0.0000993
East Asian	0.00111	0.00111
Finnish	0.00	0.00
European (Non-Finnish)	0.000284	0.000282
Middle Eastern	0.00111	0.00111
South Asian	0.000266	0.000261
Other	0.000340	0.000330

dbNSFP

Source: dbNSFP

Function: FUNCTION: Orphan receptor.;

Recessive Scores

pRec: 0.0968

Intolerance Scores

loftool: 0.290
rvis_EVS: -0.55
rvis_percentile_EVS: 19.8

Haploinsufficiency Scores

pHI: 0.153
hipred: N
hipred_score: 0.275
ghis: 0.400

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.201

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Gpr149
Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype;

Gene ontology

Biological process: preantral ovarian follicle growth;antral ovarian follicle growth;neuropeptide signaling pathway;negative regulation of ovulation
Cellular component: integral component of plasma membrane
Molecular function: G protein-coupled receptor activity;melanin-concentrating hormone receptor activity;peptide binding;neuropeptide binding