GPR45

protein-coding

G protein-coupled receptor 45, the group of G protein-coupled receptors, Class A orphans

Gene summary

This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008]

MANE transcript

NM_007227.3

Inheritance

ClinVar variants

U:162B:59

Top phenotype

GPR45-related condition

gnomAD constraint

pLI —, LoF o/e 0.33

Max pathogenic AF

—

Genomic locus

chr2:105,241,743-105,243,467

External References & Databases

Ensembl (ENSG00000135973)

Transcript & Mutation Effects

hg38 • Region Span ~1.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

cone-rod dystrophyLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0015993

Submitter: G2P

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GPR45 variants in ClinVar

3 Conditions Cataloged

not providedTotal: 202

not specifiedTotal: 43

GPR45-related conditionTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007227.3. 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			28 clinvar	50 clinvar	6 clinvar	84
missense			125 clinvar	2 clinvar	1 clinvar	128
nonsense			2 clinvar			2
start loss			1 clinvar			1
frameshift			6 clinvar			6
splice donor/acceptor (+/-2bp)						0
Total	0	0	162	52	7	221

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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_007227.3	RefSeq	NP_009158.3	1	MANE Select
ENST00000258456.3	Ensembl	ENSP00000258456.1	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction
G alpha (s) signalling events
GPCR downstream signalling

Biological Process

G protein-coupled receptor signaling pathway

Molecular Function

G protein-coupled receptor activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000258456
Coding exons: 1
Length: 1725
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	1.29	184	240	0.766	0.0000183	2387
Missense (PolyPhen)		29	42.629	0.68029		437
Synonymous	-0.275	121	117	1.03	0.00000972	811
Loss of Function	1.88	3	9.12	0.329	4.02e-7	92

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. May play a role in brain function.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.205
RVIS EVS: -0.27
RVIS percentile EVS: 34.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.415

Gene Damage Prediction

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