Incidental Mutation 'PIT4449001:Gipr'
ID 555733
Institutional Source Beutler Lab
Gene Symbol Gipr
Ensembl Gene ENSMUSG00000030406
Gene Name gastric inhibitory polypeptide receptor
Synonyms LOC381853, LOC232937, glucose-dependent insulinotropic polypeptide receptor
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # PIT4449001 (G1)
Quality Score 174.009
Status Not validated
Chromosome 7
Chromosomal Location 18889986-18900052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18894543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 253 (R253H)
Ref Sequence ENSEMBL: ENSMUSP00000092384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094790] [ENSMUST00000206971]
AlphaFold Q0P543
Predicted Effect probably benign
Transcript: ENSMUST00000094790
AA Change: R253H

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000092384
Gene: ENSMUSG00000030406
AA Change: R253H

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 probably benign
Transcript: ENSMUST00000206971
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1b A G 8: 84,694,611 (GRCm39) N125S probably benign Het
BC048671 T A 6: 90,282,145 (GRCm39) L101I probably damaging Het
Camta1 A G 4: 151,216,043 (GRCm39) L959P probably benign Het
Cfap91 T C 16: 38,148,720 (GRCm39) E236G probably damaging Het
Cfh C A 1: 140,040,303 (GRCm39) V598F probably damaging Het
Cyp2j7 G T 4: 96,103,575 (GRCm39) T320K probably damaging Het
Ddr1 A G 17: 35,998,141 (GRCm39) I468T possibly damaging Het
Dhx15 A G 5: 52,318,300 (GRCm39) V510A probably damaging Het
Dpp4 T A 2: 62,186,988 (GRCm39) K507N probably benign Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gabbr1 G A 17: 37,367,242 (GRCm39) V373I probably damaging Het
Gak A T 5: 108,728,791 (GRCm39) S1049T probably benign Het
Gm3685 T A 14: 7,043,960 (GRCm38) M73L probably benign Het
Gm5168 C T X: 25,994,840 (GRCm39) R129Q probably null Het
Kcnh1 T A 1: 192,100,992 (GRCm39) V555D probably damaging Het
Kif26b T C 1: 178,745,651 (GRCm39) S1916P probably damaging Het
Lingo4 T C 3: 94,309,239 (GRCm39) V59A probably benign Het
Mroh8 T A 2: 157,067,454 (GRCm39) Q635L probably damaging Het
Msh6 T A 17: 88,293,616 (GRCm39) D790E probably damaging Het
Nrxn1 A T 17: 90,905,007 (GRCm39) W809R probably damaging Het
Or5ac19 C A 16: 59,089,493 (GRCm39) C179F probably damaging Het
Polr3d T C 14: 70,676,903 (GRCm39) H397R probably benign Het
Pwp2 G A 10: 78,014,304 (GRCm39) T432I probably benign Het
Rad21 G C 15: 51,836,639 (GRCm39) F177L probably benign Het
Rnf182 G A 13: 43,822,153 (GRCm39) V235I probably benign Het
Scn11a C T 9: 119,599,014 (GRCm39) C1172Y probably damaging Het
Sh2b3 A G 5: 121,966,742 (GRCm39) L124P possibly damaging Het
Six2 T C 17: 85,992,906 (GRCm39) N199S probably benign Het
Slc5a3 A G 16: 91,874,702 (GRCm39) D253G probably benign Het
Synm A G 7: 67,385,025 (GRCm39) M879T probably benign Het
Tasp1 A G 2: 139,752,455 (GRCm39) I328T possibly damaging Het
Tbrg4 T C 11: 6,569,689 (GRCm39) Q309R probably damaging Het
Tmtc2 A G 10: 105,139,465 (GRCm39) L687P probably damaging Het
Trgc3 A T 13: 19,447,532 (GRCm39) R162* probably null Het
Tufm T C 7: 126,086,621 (GRCm39) M1T probably null Het
Vmn2r116 A C 17: 23,607,921 (GRCm39) L496F probably benign Het
Vmn2r75 C T 7: 85,814,791 (GRCm39) C234Y probably damaging Het
Wars2 G T 3: 99,112,595 (GRCm39) V162L possibly damaging Het
Zc3h11a A T 1: 133,552,349 (GRCm39) V586D probably benign Het
Zdhhc5 A T 2: 84,520,571 (GRCm39) N535K probably damaging Het
Zfp52 T C 17: 21,777,478 (GRCm39) Y38H probably damaging Het
Zfp729b T C 13: 67,739,542 (GRCm39) M908V probably benign Het
Zfp772 T C 7: 7,207,350 (GRCm39) I114V probably benign 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
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
R7254:Gipr UTSW 7 18,897,538 (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 2019-06-07