Incidental Mutation 'IGL02411:Glp1r'
ID 292279
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 # IGL02411
Quality Score
Status
Chromosome 17
Chromosomal Location 31120841-31155484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31143485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 174 (C174S)
Ref Sequence ENSEMBL: ENSMUSP00000110221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114574]
AlphaFold O35659
Predicted Effect probably damaging
Transcript: ENSMUST00000114574
AA Change: C174S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110221
Gene: ENSMUSG00000024027
AA Change: C174S

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
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
0610040J01Rik A G 5: 64,055,459 (GRCm39) E65G probably benign Het
Abcc8 G A 7: 45,756,431 (GRCm39) R1425C probably damaging Het
Adcy3 A T 12: 4,259,407 (GRCm39) probably null Het
AI661453 T G 17: 47,778,263 (GRCm39) probably benign Het
Arhgef10 A T 8: 15,004,819 (GRCm39) Y445F probably benign Het
Atrx G T X: 104,874,587 (GRCm39) S1924R possibly damaging Het
Clca3a1 T C 3: 144,733,763 (GRCm39) T58A possibly damaging Het
Clec1b A G 6: 129,378,804 (GRCm39) Y97C probably damaging Het
Cobll1 A G 2: 64,928,084 (GRCm39) S1080P probably damaging Het
Crb1 C A 1: 139,176,213 (GRCm39) C529F probably damaging Het
Crim1 C T 17: 78,642,763 (GRCm39) R494* probably null Het
Cyp3a25 A T 5: 145,938,257 (GRCm39) probably benign Het
Dntt T A 19: 41,041,424 (GRCm39) probably null Het
Gjb1 T C X: 100,428,611 (GRCm39) C280R probably damaging Het
Gm5414 A T 15: 101,536,269 (GRCm39) Y119N probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gm9796 G T 11: 95,588,756 (GRCm39) noncoding transcript Het
Gm9956 T C 10: 56,621,388 (GRCm39) F17L unknown Het
Il1rap A T 16: 26,529,366 (GRCm39) D396V probably damaging Het
Impa1 T C 3: 10,388,018 (GRCm39) K135E possibly damaging Het
Iqub G A 6: 24,449,810 (GRCm39) A685V probably damaging Het
Jade3 T C X: 20,379,063 (GRCm39) V512A probably benign Het
Kif3a C A 11: 53,461,525 (GRCm39) P57T probably damaging Het
Kndc1 G T 7: 139,501,829 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Maged2 G T X: 149,592,755 (GRCm39) D343E probably benign Het
Magi2 T C 5: 19,883,707 (GRCm39) S120P probably damaging Het
Nxph3 A T 11: 95,401,656 (GRCm39) *253R probably null Het
Oog2 A T 4: 143,921,618 (GRCm39) H194L probably damaging Het
Pcbd2 T G 13: 55,880,764 (GRCm39) W7G probably benign Het
Pcdhb14 T G 18: 37,582,823 (GRCm39) L643R possibly damaging Het
Plch1 G T 3: 63,605,177 (GRCm39) probably null Het
Poln G T 5: 34,270,666 (GRCm39) S455* probably null Het
Ppp2r1a T C 17: 21,171,596 (GRCm39) probably benign Het
Rsu1 T G 2: 13,082,308 (GRCm39) probably benign Het
Serpina10 A T 12: 103,583,202 (GRCm39) M360K possibly damaging Het
Sox30 A T 11: 45,871,951 (GRCm39) K269* probably null Het
Thbs1 T C 2: 117,945,451 (GRCm39) V310A probably benign Het
Tie1 C A 4: 118,343,760 (GRCm39) E61* probably null Het
Tm2d1 G T 4: 98,268,911 (GRCm39) P62Q probably damaging Het
Tpp1 G T 7: 105,398,826 (GRCm39) P201Q probably damaging Het
Trim13 A G 14: 61,842,598 (GRCm39) E205G probably damaging Het
Other mutations in Glp1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Glp1r APN 17 31,120,891 (GRCm39) missense possibly damaging 0.96
IGL00516:Glp1r APN 17 31,144,532 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16