GPR151

protein-coding

G protein-coupled receptor 151, the group of G protein-coupled receptors, Class A orphans

Gene summary

This gene encodes an orphan member of the class A rhodopsin-like family of G-protein-coupled receptors (GPCRs). Within the rhodopsin-like family, this gene is a member of the SOG subfamily that includes somatostatin, opioid, galanin, and kisspeptin receptors. The orthologous mouse gene has a restricted pattern of neuronal expression which is induced following nerve injury. All GPCRs have a transmembrane domain that includes seven transmembrane alpha-helices. A general feature of GPCR signaling is the agonist-induced conformational change in the receptor, leading to activation of the heterotrimeric G protein. The activated G protein then binds to and activates numerous downstream effector proteins, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]

MANE transcript

NM_194251.3

Inheritance

—

ClinVar variants

U:76B:6

Top phenotype

Essential tremor

gnomAD constraint

pLI —, LoF o/e 0.93

Max pathogenic AF

—

Genomic locus

chr5:146,513,144-146,516,190

External References & Databases

Ensembl (ENSG00000173250)

Transcript & Mutation Effects

hg38 • Region Span ~3.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GPR151 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 80

not providedTotal: 2

Essential tremorTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_194251.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			76 clinvar	4 clinvar		80
nonsense					1 clinvar	1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	5	1	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_194251.3	RefSeq	NP_919227.2	1	MANE Select
ENST00000311104.3	Ensembl	ENSP00000308733.2	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

G protein-coupled receptor signaling pathway

Molecular Function

G protein-coupled receptor activity

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000311104
Coding exons: 1
Length: 3088
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.137	221	227	0.974	0.0000110	2746
Missense (PolyPhen)		67	76.502	0.8758		981
Synonymous	0.941	79	90.4	0.874	0.00000496	863
Loss of Function	0.229	12	12.9	0.931	6.51e-7	133

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor.;

Recessive Scores

pRec: 0.0984

Intolerance Scores

LoFtool: 0.945
RVIS EVS: 0.46
RVIS percentile EVS: 78.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.120

Gene Damage Prediction

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