SUCNR1

succinate receptor 1, the group of Succinate receptor

Basic information

Region (hg38): 3:151873643-151884619

Previous symbols: [ "GPR91" ]

Links

ENSG00000198829 ∙ NCBI:56670 ∙ OMIM:606381 ∙ HGNC:4542 ∙ Uniprot:Q9BXA5 ∙ 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 SUCNR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SUCNR1 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					1	1
missense			21	2		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	1

Variants in SUCNR1

This is a list of pathogenic ClinVar variants found in the SUCNR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-151880610-A-G		not specified	Uncertain significance (May 09, 2023)
3-151880630-T-G		not specified	Uncertain significance (Jul 19, 2023)
3-151880638-T-C		not specified	Uncertain significance (Jul 18, 2024)
3-151880650-T-C		not specified	Uncertain significance (Nov 14, 2024)
3-151880667-A-G		not specified	Uncertain significance (Jul 25, 2024)
3-151880711-C-A		not specified	Uncertain significance (Oct 25, 2022)
3-151880738-C-T			Benign (May 18, 2018)
3-151880767-C-T		not specified	Uncertain significance (Feb 22, 2023)
3-151880769-C-T		not specified	Uncertain significance (Feb 21, 2024)
3-151880788-G-C		not specified	Uncertain significance (May 05, 2023)
3-151880839-G-A		not specified	Uncertain significance (Apr 15, 2024)
3-151880889-A-G		not specified	Uncertain significance (Jun 11, 2021)
3-151880896-T-C		not specified	Uncertain significance (Jan 02, 2024)
3-151880910-A-C		not specified	Likely benign (May 27, 2022)
3-151880941-T-C		not specified	Uncertain significance (Dec 12, 2023)
3-151881045-A-C		not specified	Uncertain significance (Dec 06, 2022)
3-151881074-T-A		not specified	Uncertain significance (Jul 09, 2021)
3-151881132-C-T		not specified	Uncertain significance (Dec 25, 2024)
3-151881193-G-C		not specified	Uncertain significance (Mar 27, 2023)
3-151881225-G-C		not specified	Uncertain significance (Mar 14, 2023)
3-151881250-T-A		not specified	Uncertain significance (Sep 10, 2024)
3-151881290-C-G		not specified	Uncertain significance (Dec 15, 2022)
3-151881357-G-A		not specified	Likely benign (Jun 17, 2024)
3-151881360-A-C		not specified	Uncertain significance (Nov 08, 2022)
3-151881384-C-T		not specified	Uncertain significance (Sep 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SUCNR1	protein_coding	protein_coding	ENST00000362032	2	10975

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000769	0.784	125657	0	84	125741	0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.154	170	176	0.967	0.00000900	2203
Missense in Polyphen		58	65.028	0.89193		826
Synonymous	-0.857	73	64.3	1.14	0.00000317	664
Loss of Function	1.05	6	9.48	0.633	6.42e-7	100

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00185	0.00185
Ashkenazi Jewish	0.00	0.00
East Asian	0.000490	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000490	0.000489
South Asian	0.000131	0.000131
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for succinate. {ECO:0000269|PubMed:15141213}.
• Pathway: cAMP signaling pathway - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.752
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.187
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0808

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sucnr1
• Phenotype: immune system phenotype; renal/urinary system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: renin secretion into blood stream;macrophage activation involved in immune response;G protein-coupled receptor signaling pathway;biological_process;interleukin-1 beta production;glucose homeostasis;positive regulation of inflammatory response;positive regulation of chemotaxis;response to calcium ion;regulation of angiotensin metabolic process
• Cellular component: plasma membrane;integral component of membrane;extracellular exosome
• Molecular function: G protein-coupled receptor activity