GPR45

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

Basic information

Region (hg38): 2:105241743-105243467

Links

ENSG00000135973 ∙ NCBI:11250 ∙ OMIM:604838 ∙ HGNC:4503 ∙ Uniprot:Q9Y5Y3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• cone-rod dystrophy (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR45 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR45 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			14	48	7	69
missense			93	1	2	96
nonsense			1			1
start loss			1			1
frameshift			2			2
inframe indel			2			2
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	113	49	9

Variants in GPR45

This is a list of pathogenic ClinVar variants found in the GPR45 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-105241861-G-A			Uncertain significance (Dec 03, 2024)
2-105241870-C-T			Uncertain significance (May 05, 2022)
2-105241875-C-T		not specified	Uncertain significance (Oct 26, 2024)
2-105241876-G-A			Uncertain significance (Oct 02, 2024)
2-105241876-G-C			Likely benign (May 27, 2023)
2-105241885-G-A			Likely benign (Aug 08, 2022)
2-105241895-T-C		not specified	Uncertain significance (May 22, 2023)
2-105241898-C-T			Benign (Oct 26, 2024)
2-105241899-T-C			Uncertain significance (Jan 18, 2025)
2-105241918-C-T			Uncertain significance (Apr 15, 2022)
2-105241919-G-A		not specified	Uncertain significance (Aug 10, 2024)
2-105241920-C-T			Uncertain significance (Apr 06, 2023)
2-105241922-T-C			Uncertain significance (Oct 02, 2022)
2-105241930-G-A			Likely benign (Nov 21, 2023)
2-105241933-G-T			Uncertain significance (Oct 29, 2024)
2-105241937-A-C			Uncertain significance (Oct 07, 2024)
2-105241939-C-T			Benign (Jan 29, 2025)
2-105241941-A-C			Uncertain significance (Jan 06, 2025)
2-105241945-G-A			Uncertain significance (Jul 24, 2024)
2-105241947-C-G			Uncertain significance (Jan 16, 2024)
2-105241948-C-T			Uncertain significance (Jul 08, 2024)
2-105241950-C-T			Uncertain significance (Dec 19, 2023)
2-105241955-C-T			Uncertain significance (Jul 19, 2024)
2-105241977-T-C		not specified	Uncertain significance (Jun 22, 2022)
2-105241980-T-C			Uncertain significance (Dec 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR45	protein_coding	protein_coding	ENST00000258456	1	1725

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.105	0.867	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.29	184	240	0.766	0.0000183	2387
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor. May play a role in brain function.
• Pathway: GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.205
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.0796
• hipred: Y
• hipred_score: 0.707
• ghis: 0.452

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.415

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr45

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity