GLP1R

glucagon like peptide 1 receptor, the group of Glucagon receptor family

Basic information

Region (hg38): 6:39048780-39091303

Links

ENSG00000112164 ∙ NCBI:2740 ∙ OMIM:138032 ∙ HGNC:4324 ∙ Uniprot:P43220 ∙ 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 GLP1R gene.

• Inborn genetic diseases (16 variants)
• not provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GLP1R 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	7	8
missense			15	1	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	15	2	8

Variants in GLP1R

This is a list of pathogenic ClinVar variants found in the GLP1R region.

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

Position	Type	Phenotype	Significance	ClinVar
6-39048854-C-T		not specified	Uncertain significance (Jul 12, 2022)
6-39048872-C-A		not specified	Uncertain significance (Sep 16, 2021)
6-39056448-C-T		not specified	Uncertain significance (Aug 17, 2021)
6-39056449-G-A			Benign (Mar 29, 2018)
6-39056455-G-A		not specified	Uncertain significance (Oct 12, 2022)
6-39056462-C-G			Benign (Jul 06, 2018)
6-39057533-G-A			Benign (Feb 09, 2018)
6-39057537-G-A		not specified	Uncertain significance (Jun 29, 2022)
6-39057543-G-A		not specified	Uncertain significance (Aug 08, 2023)
6-39065724-C-T			Benign (Jul 04, 2018)
6-39065754-C-T			Benign (Feb 09, 2018)
6-39065791-G-T		not specified	Uncertain significance (Sep 26, 2022)
6-39066235-C-G		not specified	Uncertain significance (Aug 30, 2021)
6-39066264-C-T		not specified	Uncertain significance (Dec 20, 2023)
6-39066295-C-T			Likely benign (Jun 08, 2018)
6-39072870-A-G		not specified	Uncertain significance (Oct 26, 2022)
6-39072917-C-T			Benign (Jul 18, 2018)
6-39072925-A-G			Benign (Aug 16, 2018)
6-39073748-C-T		not specified	Uncertain significance (Sep 15, 2021)
6-39073752-A-G		not specified	Uncertain significance (Aug 30, 2021)
6-39078354-A-G		not specified	Uncertain significance (Oct 06, 2021)
6-39079145-A-G		not specified	Uncertain significance (Oct 13, 2021)
6-39079642-C-A		not specified	Uncertain significance (Dec 19, 2023)
6-39079642-C-T			Benign (Jul 20, 2018)
6-39085942-C-T		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GLP1R	protein_coding	protein_coding	ENST00000373256	13	38946

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.293	0.707	125732	0	15	125747	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.68	193	271	0.713	0.0000159	2991
Missense in Polyphen		71	105.25	0.67461		1179
Synonymous	-1.06	129	115	1.13	0.00000719	898
Loss of Function	3.90	7	30.1	0.233	0.00000154	303

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.0000970	0.0000967
Middle Eastern	0.00	0.00
South Asian	0.0000663	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G-protein coupled receptor for glucagon-like peptide 1 (GLP-1) (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levels (PubMed:8405712, PubMed:8216285, PubMed:7517895, PubMed:19861722, PubMed:26308095, PubMed:27196125, PubMed:28514449). Plays a role in regulating insulin secretion in response to GLP-1 (By similarity). {ECO:0000250|UniProtKB:O35659, ECO:0000269|PubMed:19861722, ECO:0000269|PubMed:26308095, ECO:0000269|PubMed:27196125, ECO:0000269|PubMed:28514449, ECO:0000269|PubMed:7517895, ECO:0000269|PubMed:8216285, ECO:0000269|PubMed:8405712}.
• Pathway: cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Insulin secretion - Homo sapiens (human);GPCRs, Class B Secretin-like;Signaling by GPCR;Signal Transduction;Metabolism;G alpha (s) signalling events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Regulation of insulin secretion;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;Integration of energy metabolism;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.257

Intolerance Scores

• loftool: 0.648
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.57

Haploinsufficiency Scores

• pHI: 0.127
• hipred: Y
• hipred_score: 0.646
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.759

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Glp1r
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;positive regulation of cytosolic calcium ion concentration;learning or memory;regulation of heart contraction;cAMP-mediated signaling;positive regulation of blood pressure;regulation of insulin secretion;cellular response to glucagon stimulus;response to psychosocial stress
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: transmembrane signaling receptor activity;glucagon receptor activity;protein binding;G protein-coupled peptide receptor activity;peptide hormone binding;glucagon-like peptide 1 receptor activity