Incidental Mutation 'R7254:Gipr'
ID 564132
Institutional Source Beutler Lab
Gene Symbol Gipr
Ensembl Gene ENSMUSG00000030406
Gene Name gastric inhibitory polypeptide receptor
Synonyms LOC381853, LOC232937, glucose-dependent insulinotropic polypeptide receptor
MMRRC Submission 045315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7254 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 18889986-18900052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18897538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 90 (V90E)
Ref Sequence ENSEMBL: ENSMUSP00000092384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094790] [ENSMUST00000206971]
AlphaFold Q0P543
Predicted Effect probably damaging
Transcript: ENSMUST00000094790
AA Change: V90E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092384
Gene: ENSMUSG00000030406
AA Change: V90E

signal peptide 1 18 N/A INTRINSIC
HormR 53 123 6.14e-23 SMART
Pfam:7tm_2 130 384 1.3e-81 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000206971
AA Change: C103S
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous inactivation of this gene results in mild glucose intolerance due to impaired glucose-stimulated insulin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A T 7: 43,147,623 (GRCm39) D249E probably damaging Het
Acacb A C 5: 114,347,812 (GRCm39) probably null Het
Adnp A G 2: 168,025,918 (GRCm39) V459A probably damaging Het
Arid3b T C 9: 57,704,037 (GRCm39) K304E probably damaging Het
Ash1l G T 3: 88,977,816 (GRCm39) R2713L probably damaging Het
Bmpr1a A C 14: 34,136,720 (GRCm39) D490E probably benign Het
Cacna1g A T 11: 94,323,393 (GRCm39) C1270* probably null Het
Cep295nl G T 11: 118,223,866 (GRCm39) P326Q probably damaging Het
Cfap100 T C 6: 90,383,043 (GRCm39) I377V unknown Het
Creb1 C T 1: 64,615,436 (GRCm39) Q223* probably null Het
Ctsc G A 7: 87,958,767 (GRCm39) G349D probably damaging Het
Ddx41 G A 13: 55,681,769 (GRCm39) R311* probably null Het
Dpcd A G 19: 45,565,473 (GRCm39) Q149R probably benign Het
Dse T A 10: 34,060,144 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,226,205 (GRCm39) probably benign Het
Eef2k C T 7: 120,488,488 (GRCm39) H458Y probably benign Het
Gm14412 A T 2: 177,009,189 (GRCm39) D22E probably damaging Het
Gm21886 A T 18: 80,132,950 (GRCm39) C69* probably null Het
Gm5114 G A 7: 39,058,390 (GRCm39) L410F probably benign Het
Gmip T A 8: 70,269,118 (GRCm39) probably null Het
Gtf2f1 T C 17: 57,314,101 (GRCm39) T128A possibly damaging Het
Hnrnpr A G 4: 136,059,886 (GRCm39) E330G possibly damaging Het
Hoxd9 T A 2: 74,528,718 (GRCm39) W107R probably damaging Het
Iars1 T C 13: 49,876,554 (GRCm39) probably null Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Ifi213 G T 1: 173,421,529 (GRCm39) P120Q probably damaging Het
Il6 A T 5: 30,219,906 (GRCm39) Q94L probably benign Het
Kcnab1 A G 3: 65,226,908 (GRCm39) S196G probably benign Het
Kcnv1 C T 15: 44,976,604 (GRCm39) V228I probably benign Het
Lars2 A G 9: 123,284,028 (GRCm39) T739A possibly damaging Het
Med13 T C 11: 86,210,661 (GRCm39) S494G probably benign Het
Mtrf1 GCCTTC GC 14: 79,660,931 (GRCm39) probably null Het
Myh9 T G 15: 77,650,024 (GRCm39) Q1646P probably damaging Het
Nif3l1 T A 1: 58,489,625 (GRCm39) S171R probably benign Het
Or13n4 A G 7: 106,422,777 (GRCm39) *319Q probably null Het
Or1e1c A G 11: 73,266,201 (GRCm39) I212V probably benign Het
Or1r1 A G 11: 73,874,603 (GRCm39) V277A probably benign Het
Or51f23 A G 7: 102,452,765 (GRCm39) T27A probably benign Het
Or5b113 A T 19: 13,342,475 (GRCm39) D161V probably benign Het
Or6c5b T C 10: 129,245,649 (GRCm39) V138A probably benign Het
Or8c8 T C 9: 38,164,719 (GRCm39) M2T probably benign Het
Pak5 A T 2: 135,958,684 (GRCm39) S135T possibly damaging Het
Prr29 A T 11: 106,265,684 (GRCm39) M1L probably damaging Het
Ptpn13 T A 5: 103,742,502 (GRCm39) V2407E probably damaging Het
Ralgapa1 T A 12: 55,741,978 (GRCm39) H1310L probably damaging Het
Raph1 T C 1: 60,538,767 (GRCm39) S393G unknown Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Ror2 A G 13: 53,272,756 (GRCm39) I303T possibly damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn10a C T 9: 119,447,921 (GRCm39) D1378N probably damaging Het
Serpinc1 T A 1: 160,821,188 (GRCm39) C91S probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spata31d1e T C 13: 59,889,790 (GRCm39) I677V probably benign Het
Tada1 T A 1: 166,216,217 (GRCm39) C139* probably null Het
Tbr1 T A 2: 61,636,386 (GRCm39) V254E probably damaging Het
Timd4 A T 11: 46,734,016 (GRCm39) I340F probably benign Het
Tubb2a T C 13: 34,258,515 (GRCm39) Y425C probably damaging Het
Zfp292 A T 4: 34,819,476 (GRCm39) M287K probably damaging Het
Other mutations in Gipr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Gipr APN 7 18,893,431 (GRCm39) unclassified probably benign
IGL02214:Gipr APN 7 18,891,471 (GRCm39) missense possibly damaging 0.46
IGL02525:Gipr APN 7 18,893,690 (GRCm39) missense possibly damaging 0.64
IGL03163:Gipr APN 7 18,896,481 (GRCm39) nonsense probably null
PIT4449001:Gipr UTSW 7 18,894,543 (GRCm39) missense probably benign 0.05
PIT4480001:Gipr UTSW 7 18,896,859 (GRCm39) missense probably damaging 1.00
R1813:Gipr UTSW 7 18,897,996 (GRCm39) missense probably benign 0.02
R1896:Gipr UTSW 7 18,897,996 (GRCm39) missense probably benign 0.02
R3409:Gipr UTSW 7 18,893,719 (GRCm39) missense possibly damaging 0.74
R3949:Gipr UTSW 7 18,891,354 (GRCm39) missense probably benign 0.00
R4781:Gipr UTSW 7 18,891,300 (GRCm39) missense possibly damaging 0.95
R4841:Gipr UTSW 7 18,896,601 (GRCm39) missense probably damaging 1.00
R4842:Gipr UTSW 7 18,896,601 (GRCm39) missense probably damaging 1.00
R5087:Gipr UTSW 7 18,893,689 (GRCm39) missense probably damaging 1.00
R5297:Gipr UTSW 7 18,891,469 (GRCm39) missense probably damaging 1.00
R5480:Gipr UTSW 7 18,894,579 (GRCm39) missense probably damaging 1.00
R5763:Gipr UTSW 7 18,897,475 (GRCm39) missense probably damaging 0.99
R6957:Gipr UTSW 7 18,898,529 (GRCm39) missense probably benign 0.01
R7035:Gipr UTSW 7 18,896,809 (GRCm39) missense probably damaging 1.00
R7720:Gipr UTSW 7 18,896,884 (GRCm39) missense probably benign 0.02
R8234:Gipr UTSW 7 18,898,533 (GRCm39) missense unknown
R9098:Gipr UTSW 7 18,897,495 (GRCm39) missense unknown
R9372:Gipr UTSW 7 18,896,863 (GRCm39) missense probably benign 0.01
R9776:Gipr UTSW 7 18,891,487 (GRCm39) missense probably damaging 0.96
Z1177:Gipr UTSW 7 18,891,490 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-06-26