Incidental Mutation 'IGL00816:Gpr119'
ID 13515
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr119
Ensembl Gene ENSMUSG00000051209
Gene Name G-protein coupled receptor 119
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL00816
Quality Score
Status
Chromosome X
Chromosomal Location 47756856-47763355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47763047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 30 (L30P)
Ref Sequence ENSEMBL: ENSMUSP00000060591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053970]
AlphaFold Q7TQP3
Predicted Effect probably damaging
Transcript: ENSMUST00000053970
AA Change: L30P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060591
Gene: ENSMUSG00000051209
AA Change: L30P

DomainStartEndE-ValueType
Pfam:7tm_1 21 279 1.3e-34 PFAM
Pfam:7TM_GPCR_Srsx 38 294 1e-6 PFAM
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 member of the rhodopsin subfamily of G-protein-coupled receptors that is expressed in the pancreas and gastrointestinal tract. The encoded protein is activated by lipid amides including lysophosphatidylcholine and oleoylethanolamide and may be involved in glucose homeostasis. This protein is a potential drug target in the treatment of type 2 diabetes.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal growth and glucose homeostasis except lowered body weight when fed a low-fat diet and decreased insulin levels post-glucose load. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,545,322 (GRCm39) D5654E probably benign Het
Alg6 A G 4: 99,630,598 (GRCm39) S146G probably null Het
Anks1 T C 17: 28,278,367 (GRCm39) probably null Het
Bcor T C X: 11,904,059 (GRCm39) I1662V probably damaging Het
Bzw1 T C 1: 58,438,213 (GRCm39) F98L probably damaging Het
Cdc14b A G 13: 64,353,217 (GRCm39) V453A probably benign Het
Copg1 G T 6: 87,870,880 (GRCm39) A228S possibly damaging Het
D1Pas1 A G 1: 186,701,609 (GRCm39) I513V possibly damaging Het
Efemp1 G A 11: 28,876,223 (GRCm39) V463M probably benign Het
Ep400 T A 5: 110,883,356 (GRCm39) probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fgd3 A G 13: 49,418,262 (GRCm39) probably benign Het
Furin C A 7: 80,042,315 (GRCm39) G427W probably damaging Het
Glycam1 T G 15: 103,472,659 (GRCm39) D25A probably damaging Het
Gria1 T A 11: 57,208,568 (GRCm39) M752K possibly damaging Het
Mcph1 C T 8: 18,682,413 (GRCm39) P517S possibly damaging Het
Mug1 T A 6: 121,859,597 (GRCm39) Y1199N probably damaging Het
Myt1 A G 2: 181,449,308 (GRCm39) D663G probably damaging Het
Ppp1r1c A T 2: 79,540,241 (GRCm39) probably null Het
Rab1a C T 11: 20,174,727 (GRCm39) T100M possibly damaging Het
Rfx6 A G 10: 51,554,501 (GRCm39) K114R probably benign Het
Rmdn1 T C 4: 19,595,119 (GRCm39) V177A probably benign Het
Setd5 T G 6: 113,088,375 (GRCm39) L168V probably damaging Het
Slc25a10 A T 11: 120,385,976 (GRCm39) probably benign Het
Slc38a7 A T 8: 96,570,748 (GRCm39) I252N probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Taar8c A T 10: 23,977,173 (GRCm39) I213N probably damaging Het
Tagln3 A T 16: 45,544,556 (GRCm39) C38* probably null Het
Tmcc2 C A 1: 132,308,436 (GRCm39) A153S probably benign Het
Tuft1 A T 3: 94,523,138 (GRCm39) I291N probably damaging Het
Vmn2r10 T A 5: 109,150,451 (GRCm39) M198L possibly damaging Het
Vps13d T A 4: 144,882,564 (GRCm39) M1004L probably benign Het
Wfdc3 T C 2: 164,584,945 (GRCm39) probably benign Het
Wfikkn2 G A 11: 94,128,921 (GRCm39) Q407* probably null Het
Zfp106 T C 2: 120,357,329 (GRCm39) I1189V probably benign Het
Zic2 T A 14: 122,715,971 (GRCm39) C364* probably null Het
Other mutations in Gpr119
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Gpr119 APN X 47,762,125 (GRCm39) splice site probably benign
R8816:Gpr119 UTSW X 47,762,276 (GRCm39) missense possibly damaging 0.47
Posted On 2012-12-06