MAS1

MAS1 proto-oncogene, G protein-coupled receptor, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 6:159890988-159917447

Links

ENSG00000130368 ∙ NCBI:4142 ∙ OMIM:165180 ∙ HGNC:6899 ∙ Uniprot:P04201 ∙ 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 MAS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAS1 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			39	1		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	1	0

Variants in MAS1

This is a list of pathogenic ClinVar variants found in the MAS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-159906998-A-T		not specified	Uncertain significance (Jun 03, 2024)
6-159907075-G-T		not specified	Uncertain significance (Aug 23, 2021)
6-159907112-C-T		not specified	Uncertain significance (Jan 26, 2025)
6-159907133-C-T		not specified	Uncertain significance (Nov 12, 2024)
6-159907140-G-T		not specified	Uncertain significance (Nov 22, 2024)
6-159907142-A-G		not specified	Uncertain significance (Mar 01, 2025)
6-159907154-A-G		not specified	Uncertain significance (Nov 02, 2023)
6-159907155-C-G		not specified	Uncertain significance (Aug 15, 2023)
6-159907166-A-G		not specified	Uncertain significance (Apr 22, 2022)
6-159907181-G-A		not specified	Uncertain significance (Sep 22, 2022)
6-159907221-T-C		not specified	Uncertain significance (Jun 28, 2024)
6-159907241-G-C		not specified	Uncertain significance (Oct 24, 2024)
6-159907251-C-A		not specified	Uncertain significance (Apr 26, 2023)
6-159907326-C-T		not specified	Uncertain significance (Aug 17, 2021)
6-159907342-G-C		not specified	Uncertain significance (May 01, 2022)
6-159907370-T-C		not specified	Uncertain significance (Jan 20, 2025)
6-159907377-G-A		not specified	Uncertain significance (Mar 31, 2024)
6-159907464-T-C		not specified	Uncertain significance (Jan 30, 2024)
6-159907472-G-A		not specified	Uncertain significance (Apr 19, 2024)
6-159907487-A-G		not specified	Uncertain significance (Nov 09, 2021)
6-159907493-T-C		not specified	Uncertain significance (Oct 20, 2023)
6-159907496-C-T		not specified	Uncertain significance (Apr 07, 2023)
6-159907497-G-A		not specified	Uncertain significance (Apr 23, 2024)
6-159907509-G-A		not specified	Uncertain significance (Jul 17, 2023)
6-159907544-C-G		not specified	Uncertain significance (Nov 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAS1	protein_coding	protein_coding	ENST00000252660	1	1135

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000825	0.550	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0297	190	189	1.01	0.0000112	2118
Missense in Polyphen		35	41.012	0.8534		526
Synonymous	-0.804	88	78.9	1.12	0.00000492	670
Loss of Function	0.583	7	8.88	0.789	5.66e-7	105

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: Receptor for angiotensin 1-7 (By similarity). Acts specifically as a functional antagonist of AGTR1 (angiotensin-2 type 1 receptor), although it up-regulates AGTR1 receptor levels. Positive regulation of AGTR1 levels occurs through activation of the G-proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade. The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1. {ECO:0000250, ECO:0000269|PubMed:15809376, ECO:0000269|PubMed:16611642}.
• Disease: DISEASE: Note=The MAS oncogene has a weak focus-inducing activity in transfected NIH 3T3 cells. {ECO:0000269|PubMed:3708691}.
• Pathway: Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Renin-angiotensin system - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);ACE Inhibitor Pathway, Pharmacodynamics;GPCRs, Class A Rhodopsin-like;ACE Inhibitor Pathway (Consensus)

Recessive Scores

• pRec: 0.190

Intolerance Scores

• loftool: 0.490
• rvis_EVS: -0.78
• rvis_percentile_EVS: 12.88

Haploinsufficiency Scores

• pHI: 0.0803
• hipred: N
• hipred_score: 0.310
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.347

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mas1
• Phenotype: homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); renal/urinary system phenotype; 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of protein phosphorylation;G protein-coupled receptor signaling pathway;activation of NF-kappaB-inducing kinase activity;spermatogenesis;cell population proliferation;positive regulation of cell population proliferation;male gonad development;anatomical structure morphogenesis;response to activity;hippocampus development;response to gonadotropin;angiotensin-activated signaling pathway;response to drug;positive regulation of DNA replication;regulation of inflammatory response;positive regulation of inositol phosphate biosynthetic process;protein kinase C signaling
• Cellular component: plasma membrane;integral component of plasma membrane;cell surface
• Molecular function: angiotensin receptor activity;G protein-coupled receptor activity;angiotensin type II receptor activity;protein binding;peptide binding