Incidental Mutation 'IGL00516:Glp1r'
ID 3883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glp1r
Ensembl Gene ENSMUSG00000024027
Gene Name glucagon-like peptide 1 receptor
Synonyms GLP-1R, GLP1Rc
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00516
Quality Score
Status
Chromosome 17
Chromosomal Location 31120841-31155484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31144532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 235 (Y235C)
Ref Sequence ENSEMBL: ENSMUSP00000110221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114574]
AlphaFold O35659
Predicted Effect probably damaging
Transcript: ENSMUST00000114574
AA Change: Y235C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110221
Gene: ENSMUSG00000024027
AA Change: Y235C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
HormR 58 135 9.88e-27 SMART
Pfam:7tm_2 141 398 7.4e-82 PFAM
low complexity region 440 456 N/A INTRINSIC
Meta Mutation Damage Score 0.9582 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T C 11: 80,267,638 (GRCm39) D91G possibly damaging Het
Abcc1 T A 16: 14,231,176 (GRCm39) L438* probably null Het
Asph A T 4: 9,639,322 (GRCm39) N14K probably damaging Het
Baz1b T C 5: 135,245,444 (GRCm39) Y298H probably damaging Het
Ccdc66 A T 14: 27,220,413 (GRCm39) W267R probably damaging Het
Cd81 A C 7: 142,620,901 (GRCm39) K193N probably damaging Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Cflar T C 1: 58,771,469 (GRCm39) I199T probably benign Het
Cmya5 A G 13: 93,234,675 (GRCm39) S138P possibly damaging Het
Cnot1 T C 8: 96,452,707 (GRCm39) N2123S probably damaging Het
Crybg3 A G 16: 59,350,803 (GRCm39) S846P probably benign Het
Cyp2d9 A G 15: 82,339,295 (GRCm39) I21M probably benign Het
Ddx41 T C 13: 55,680,280 (GRCm39) T371A probably damaging Het
Dnhd1 A T 7: 105,306,418 (GRCm39) I425F possibly damaging Het
Dsc1 T C 18: 20,234,943 (GRCm39) D237G probably damaging Het
Emc1 T C 4: 139,082,393 (GRCm39) probably benign Het
Epc1 T A 18: 6,450,515 (GRCm39) D367V probably damaging Het
Helb A G 10: 119,941,329 (GRCm39) V453A probably damaging Het
Hras A G 7: 140,772,783 (GRCm39) I24T possibly damaging Het
Hsf2 A T 10: 57,388,124 (GRCm39) I423L probably benign Het
Igkv2-109 T A 6: 68,280,054 (GRCm39) S92T probably benign Het
Kiss1r G A 10: 79,754,550 (GRCm39) A15T possibly damaging Het
Krt79 T C 15: 101,848,601 (GRCm39) S17G probably damaging Het
Lrrc14b T C 13: 74,509,078 (GRCm39) D443G probably damaging Het
Map4k4 T A 1: 40,053,762 (GRCm39) V953E probably damaging Het
Mybpc2 G A 7: 44,154,829 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,530 (GRCm39) E173G probably damaging Het
Neurl4 C T 11: 69,801,219 (GRCm39) R1199W probably damaging Het
Otog T A 7: 45,900,706 (GRCm39) V333E probably damaging Het
Pdcd2l A T 7: 33,884,246 (GRCm39) probably null Het
Plagl1 A G 10: 13,003,616 (GRCm39) probably benign Het
Rbm34 T C 8: 127,696,736 (GRCm39) N122S probably benign Het
Shank2 A G 7: 143,964,512 (GRCm39) K917E possibly damaging Het
Slc17a8 T C 10: 89,427,157 (GRCm39) K315E possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Sytl2 A G 7: 90,022,113 (GRCm39) T183A probably benign Het
Tnik T A 3: 28,708,367 (GRCm39) I1067N probably damaging Het
Tpd52l2 A G 2: 181,154,861 (GRCm39) D192G probably damaging Het
Trhde A T 10: 114,282,104 (GRCm39) I791N probably benign Het
Ttc28 A T 5: 111,373,554 (GRCm39) N966Y probably damaging Het
Vps13b A T 15: 35,640,703 (GRCm39) D1356V probably damaging Het
Zmym2 A G 14: 57,185,394 (GRCm39) probably benign Het
Other mutations in Glp1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Glp1r APN 17 31,120,891 (GRCm39) missense possibly damaging 0.96
IGL00653:Glp1r APN 17 31,149,734 (GRCm39) missense probably damaging 1.00
IGL00917:Glp1r APN 17 31,138,443 (GRCm39) splice site probably benign
IGL02005:Glp1r APN 17 31,143,585 (GRCm39) missense probably benign 0.03
IGL02411:Glp1r APN 17 31,143,485 (GRCm39) missense probably damaging 1.00
IGL02889:Glp1r APN 17 31,150,118 (GRCm39) splice site probably benign
IGL02928:Glp1r APN 17 31,137,911 (GRCm39) missense probably benign 0.00
N/A:Glp1r UTSW 17 31,150,257 (GRCm39) missense probably damaging 0.98
R0135:Glp1r UTSW 17 31,143,551 (GRCm39) missense probably benign 0.00
R0395:Glp1r UTSW 17 31,155,312 (GRCm39) missense probably benign 0.34
R0481:Glp1r UTSW 17 31,150,191 (GRCm39) missense probably benign 0.03
R0602:Glp1r UTSW 17 31,128,201 (GRCm39) missense probably benign 0.12
R0841:Glp1r UTSW 17 31,138,406 (GRCm39) missense probably benign 0.01
R1145:Glp1r UTSW 17 31,138,406 (GRCm39) missense probably benign 0.01
R1145:Glp1r UTSW 17 31,138,406 (GRCm39) missense probably benign 0.01
R1232:Glp1r UTSW 17 31,137,905 (GRCm39) missense probably benign
R1804:Glp1r UTSW 17 31,149,687 (GRCm39) splice site probably null
R1846:Glp1r UTSW 17 31,148,909 (GRCm39) critical splice acceptor site probably null
R1982:Glp1r UTSW 17 31,144,601 (GRCm39) nonsense probably null
R1990:Glp1r UTSW 17 31,149,722 (GRCm39) missense possibly damaging 0.53
R2091:Glp1r UTSW 17 31,144,523 (GRCm39) missense probably damaging 0.97
R3432:Glp1r UTSW 17 31,143,531 (GRCm39) missense probably damaging 1.00
R4456:Glp1r UTSW 17 31,137,949 (GRCm39) nonsense probably null
R4488:Glp1r UTSW 17 31,137,905 (GRCm39) missense probably benign
R4610:Glp1r UTSW 17 31,150,221 (GRCm39) missense probably benign 0.03
R4884:Glp1r UTSW 17 31,155,240 (GRCm39) missense probably damaging 1.00
R5055:Glp1r UTSW 17 31,137,861 (GRCm39) missense probably benign
R6358:Glp1r UTSW 17 31,151,618 (GRCm39) missense probably benign 0.07
R6359:Glp1r UTSW 17 31,148,946 (GRCm39) missense probably damaging 1.00
R6490:Glp1r UTSW 17 31,143,546 (GRCm39) missense probably damaging 0.98
R6698:Glp1r UTSW 17 31,155,375 (GRCm39) missense probably damaging 1.00
R7063:Glp1r UTSW 17 31,144,532 (GRCm39) missense probably damaging 1.00
R7165:Glp1r UTSW 17 31,128,297 (GRCm39) missense probably benign 0.23
R7293:Glp1r UTSW 17 31,143,599 (GRCm39) missense probably benign 0.00
R7646:Glp1r UTSW 17 31,155,257 (GRCm39) missense probably benign 0.38
R7655:Glp1r UTSW 17 31,149,572 (GRCm39) critical splice donor site probably null
R7656:Glp1r UTSW 17 31,149,572 (GRCm39) critical splice donor site probably null
R7686:Glp1r UTSW 17 31,144,633 (GRCm39) missense probably damaging 1.00
R8531:Glp1r UTSW 17 31,143,531 (GRCm39) missense probably damaging 1.00
R9050:Glp1r UTSW 17 31,137,892 (GRCm39) missense probably damaging 1.00
X0064:Glp1r UTSW 17 31,138,437 (GRCm39) critical splice donor site probably null
Posted On 2012-04-20