|Institutional Source||Beutler Lab|
|Gene Name||glucagon-like peptide 1 receptor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3432 (G1)|
|Chromosomal Location||30901867-30936510 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 30924557 bp|
|Amino Acid Change||Leucine to Histidine at position 189 (L189H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000110221 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114574]|
|Predicted Effect||probably damaging
AA Change: L189H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L189H
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
PHENOTYPE: Glucose tolerance and pancreatic secretion is impaired in homozygous null mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Glp1r||
(F):5'- TTGAGCATATTCCCAGAGGTG -3'
(R):5'- TCATACAGTGACTCCCTAAGGTC -3'
(F):5'- TGGATACATGCCTGATGTGTATG -3'
(R):5'- CTAAGGTCACATCTGGGCTAC -3'