MRGPRD

MAS related GPR family member D, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 11:68980021-68980986

Links

ENSG00000172938 ∙ NCBI:116512 ∙ OMIM:607231 ∙ HGNC:29626 ∙ Uniprot:Q8TDS7 ∙ 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 MRGPRD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRGPRD 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						0
missense			32	4		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	4	0

Variants in MRGPRD

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

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

Position	Type	Phenotype	Significance	ClinVar
11-68980034-T-C		not specified	Uncertain significance (Aug 26, 2022)
11-68980047-C-T		not specified	Uncertain significance (Jul 08, 2022)
11-68980074-C-T		not specified	Uncertain significance (Jul 28, 2021)
11-68980083-C-T		not specified	Uncertain significance (Sep 14, 2022)
11-68980092-C-T		not specified	Uncertain significance (Apr 08, 2024)
11-68980122-T-G		not specified	Uncertain significance (Jul 09, 2021)
11-68980142-C-G		not specified	Uncertain significance (Oct 04, 2022)
11-68980142-C-T		not specified	Likely benign (Jun 17, 2024)
11-68980158-A-T		not specified	Uncertain significance (Feb 13, 2025)
11-68980167-C-T		not specified	Uncertain significance (Jun 18, 2021)
11-68980176-C-T		not specified	Uncertain significance (Dec 03, 2021)
11-68980181-C-G		not specified	Uncertain significance (Jun 04, 2024)
11-68980188-C-A		not specified	Uncertain significance (Mar 20, 2023)
11-68980227-G-T		not specified	Likely benign (Apr 17, 2024)
11-68980238-G-A		not specified	Uncertain significance (Mar 07, 2025)
11-68980239-G-T		not specified	Uncertain significance (Feb 19, 2025)
11-68980302-C-G		not specified	Uncertain significance (Jan 02, 2024)
11-68980311-A-C		not specified	Uncertain significance (Jan 19, 2024)
11-68980346-C-T		not specified	Uncertain significance (May 09, 2022)
11-68980347-G-A		not specified	Uncertain significance (Dec 26, 2023)
11-68980350-G-A		not specified	Uncertain significance (Jul 09, 2024)
11-68980410-C-T		not specified	Uncertain significance (Mar 28, 2024)
11-68980425-C-T		not specified	Uncertain significance (Jul 11, 2023)
11-68980437-C-T		not specified	Uncertain significance (Aug 11, 2024)
11-68980439-G-A		not specified	Uncertain significance (Apr 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRGPRD	protein_coding	protein_coding	ENST00000309106	1	966

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.168	187	194	0.966	0.0000117	2072
Missense in Polyphen		54	55.228	0.97776		663
Synonymous	0.464	82	87.5	0.937	0.00000560	687
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate nociceptor function and/or development, including the sensation or modulation of pain. Functions as a specific membrane receptor for beta-alanine. Beta-alanine at micromolar doses specifically evoked Ca(2+) influx in cells expressing the receptor. Beta-alanine decreases forskolin- stimulated cAMP production in cells expressing the receptor, suggesting that the receptor couples with G-protein G(q) and G(i).
• Pathway: Renin-angiotensin system - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0968

Intolerance Scores

• loftool: 0.617
• rvis_EVS: 0.66
• rvis_percentile_EVS: 84.55

Haploinsufficiency Scores

• pHI: 0.0797
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00514

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrgprd
• Phenotype: normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); 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)

Gene ontology

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