MRGPRX1

MAS related GPR family member X1, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 11:18933498-18939414

Links

ENSG00000170255 ∙ NCBI:259249 ∙ OMIM:607227 ∙ HGNC:17962 ∙ Uniprot:Q96LB2 ∙ 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 MRGPRX1 gene.

• Inborn genetic diseases (14 variants)
• not provided (9 variants)
• Gestational diabetes mellitus uncontrolled (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRGPRX1 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				5	1	6
missense			11	5	1	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	10	2

Variants in MRGPRX1

This is a list of pathogenic ClinVar variants found in the MRGPRX1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-18933824-C-G		not specified	Uncertain significance (Feb 09, 2023)
11-18933855-C-G		not specified	Uncertain significance (Jan 23, 2024)
11-18933863-G-A		not specified	Uncertain significance (Sep 14, 2022)
11-18933890-A-G		not specified	Likely benign (May 17, 2023)
11-18933939-T-C			Likely benign (Nov 01, 2022)
11-18934003-G-T		not specified	Uncertain significance (Dec 13, 2023)
11-18934055-C-T		not specified	Uncertain significance (Apr 08, 2023)
11-18934095-C-T			Likely benign (Jul 01, 2022)
11-18934099-C-T		not specified	Uncertain significance (Dec 26, 2023)
11-18934118-G-A			Benign (Oct 19, 2017)
11-18934139-C-T		not specified	Uncertain significance (Nov 15, 2021)
11-18934179-A-G			Likely benign (Apr 01, 2023)
11-18934187-T-C			Likely benign (Apr 01, 2023)
11-18934206-C-A			Likely benign (Apr 01, 2023)
11-18934207-C-A			Likely benign (Apr 01, 2023)
11-18934222-C-A		not specified	Likely benign (Aug 01, 2022)
11-18934241-C-A		not specified	Uncertain significance (Jun 23, 2021)
11-18934292-A-G		not specified	Uncertain significance (Sep 01, 2021)
11-18934381-G-A		not specified	Uncertain significance (Aug 09, 2021)
11-18934438-A-C		not specified	Uncertain significance (Dec 14, 2021)
11-18934484-C-T		not specified	Uncertain significance (Dec 19, 2023)
11-18934554-G-C		not specified	Uncertain significance (May 30, 2023)
11-18934569-G-C		not specified	Uncertain significance (Jan 22, 2024)
11-18934577-C-A		not specified	Uncertain significance (Feb 28, 2023)
11-18934621-C-A			Benign (Jan 08, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRGPRX1	protein_coding	protein_coding	ENST00000302797	1	5695

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	-0.918	219	184	1.19	0.0000116	2047
Missense in Polyphen		32	30.657	1.0438		443
Synonymous	-3.80	128	83.7	1.53	0.00000561	695
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: Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins including BAM22 (bovine adrenal medulla peptide 22) and BAM (8-22)(PubMed:26582731). BAM22 is the most potent compound and evoked a large and dose-dependent release of intracellular calcium in stably transfected cells. G(alpha)q proteins are involved in the calcium-signaling pathway. Activated by the antimalarial drug, chloroquine. May mediate chloroquine- induced itch, in a histamine-independent manner. {ECO:0000269|PubMed:11850634, ECO:0000269|PubMed:20004959, ECO:0000269|PubMed:26582731}.

Recessive Scores

• pRec: 0.0624

Intolerance Scores

• loftool: 0.291
• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.18

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00421

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrgprb2
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: acute-phase response;signal transduction;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;response to chloroquine
• Cellular component: plasma membrane;cell surface;integral component of membrane
• Molecular function: transmembrane signaling receptor activity;G protein-coupled receptor activity