GRM8

glutamate metabotropic receptor 8, the group of MicroRNA protein coding host genes|Glutamate metabotropic receptors

Basic information

Region (hg38): 7:126438597-127253093

Links

ENSG00000179603 ∙ NCBI:2918 ∙ OMIM:601116 ∙ HGNC:4600 ∙ Uniprot:O00222 ∙ 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 GRM8 gene.

• Inborn genetic diseases (36 variants)
• not provided (33 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRM8 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				13	6	19
missense			38	4	5	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2	1	3
Total	0	0	38	19	12

Variants in GRM8

This is a list of pathogenic ClinVar variants found in the GRM8 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-126446108-A-G		not specified	Uncertain significance (Sep 13, 2023)
7-126446188-T-C			Likely benign (Dec 31, 2019)
7-126446248-C-T		not specified	Uncertain significance (Jan 26, 2023)
7-126446249-G-A		Malignant tumor of prostate	Uncertain significance (-)
7-126446293-T-C		not specified	Uncertain significance (Aug 01, 2022)
7-126446351-G-T		not specified	Uncertain significance (Jun 11, 2021)
7-126446371-A-C		not specified	Uncertain significance (Jan 27, 2022)
7-126446381-A-AG		GRM8-related disorder	Benign (Oct 31, 2019)
7-126533073-G-A		not specified	Uncertain significance (Oct 20, 2023)
7-126533110-G-A		not specified	Uncertain significance (Dec 02, 2022)
7-126533165-C-T			Benign (Aug 11, 2018)
7-126533177-C-T			Likely benign (Apr 12, 2018)
7-126533195-C-A			Likely benign (Dec 31, 2019)
7-126533224-G-A		not specified	Uncertain significance (Jul 21, 2021)
7-126533225-G-C		GRM8-related disorder	Likely benign (Jun 12, 2019)
7-126533324-C-T			Likely benign (Sep 14, 2018)
7-126533373-G-C			Uncertain significance (Aug 01, 2021)
7-126533387-G-A			Benign (Aug 11, 2018)
7-126533427-C-T		not specified	Uncertain significance (Jan 04, 2022)
7-126533430-C-T		not specified	Uncertain significance (Feb 06, 2023)
7-126533467-T-C		not specified	Uncertain significance (Apr 25, 2022)
7-126533502-G-A		not specified	Uncertain significance (Jan 26, 2022)
7-126533504-T-A		GRM8-related disorder	Likely benign (Jun 06, 2019)
7-126533512-C-T		not specified	Uncertain significance (Jun 03, 2022)
7-126533530-C-T		not specified	Uncertain significance (Oct 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRM8	protein_coding	protein_coding	ENST00000339582	10	814697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.53e-7	1.00	125706	0	42	125748	0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.914	464	523	0.887	0.0000287	5953
Missense in Polyphen		207	259.35	0.79816		2814
Synonymous	-0.546	202	192	1.05	0.0000110	1794
Loss of Function	3.42	18	41.9	0.430	0.00000265	444

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000644	0.000640
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.0000545	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000171	0.000167
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000980	0.0000980
Other	0.000175	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. {ECO:0000269|PubMed:9473604}.
• Pathway: Glutamatergic synapse - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;GPCRs, Class C Metabotropic glutamate, pheromone;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Class C/3 (Metabotropic glutamate/pheromone receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.187

Intolerance Scores

• loftool: 0.0291
• rvis_EVS: -0.57
• rvis_percentile_EVS: 19.04

Haploinsufficiency Scores

• pHI: 0.527
• hipred: Y
• hipred_score: 0.554
• ghis: 0.591

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.125

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Grm8
• Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism 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)

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway;G protein-coupled glutamate receptor signaling pathway;visual perception;regulation of synaptic transmission, glutamatergic
• Cellular component: plasma membrane;integral component of plasma membrane;presynaptic membrane
• Molecular function: G protein-coupled receptor activity;glutamate receptor activity