Incidental Mutation 'IGL02176:Gpr107'
ID283126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr107
Ensembl Gene ENSMUSG00000000194
Gene NameG protein-coupled receptor 107
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02176
Quality Score
Status
Chromosome2
Chromosomal Location31152316-31218775 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 31168846 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 116 (V116D)
Ref Sequence ENSEMBL: ENSMUSP00000056739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056433]
Predicted Effect probably benign
Transcript: ENSMUST00000056433
AA Change: V116D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: V116D

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Lung_7-TM_R 213 504 3e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172422
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G T 10: 20,970,916 R415L probably benign Het
Ankle1 C A 8: 71,406,259 H45Q probably damaging Het
Anks1b A T 10: 90,042,668 H113L probably damaging Het
Arhgap33 T A 7: 30,524,051 H851L possibly damaging Het
Atp12a C T 14: 56,387,179 S972L probably damaging Het
Atrip T C 9: 109,067,046 D301G probably benign Het
Bckdk A G 7: 127,906,373 T223A probably benign Het
C3 C A 17: 57,226,337 probably benign Het
C8g A G 2: 25,499,110 S154P probably damaging Het
Casz1 A G 4: 148,934,619 D459G probably damaging Het
Cdca7 A G 2: 72,484,644 T293A probably damaging Het
Cmya5 T A 13: 93,090,150 D2810V probably damaging Het
CN725425 G A 15: 91,245,821 V296I probably benign Het
Col17a1 A G 19: 47,651,219 M1077T probably benign Het
Ddhd1 A T 14: 45,616,600 H426Q probably damaging Het
Dpp6 C T 5: 27,723,577 T799M probably damaging Het
Efs C T 14: 54,921,042 G53D probably damaging Het
Fer1l4 A G 2: 156,048,451 V221A probably benign Het
Gabre G A X: 72,274,653 Q17* probably null Het
Gpld1 T C 13: 24,984,209 probably null Het
Huwe1 T C X: 151,903,968 S2283P possibly damaging Het
Ksr1 A G 11: 79,020,791 S722P probably benign Het
Lmbrd2 A G 15: 9,182,574 E532G probably damaging Het
Lrfn1 T C 7: 28,458,686 probably benign Het
Lrrc4c A G 2: 97,630,253 D408G probably damaging Het
Mbp A G 18: 82,554,545 E122G probably damaging Het
Myo9a T A 9: 59,870,553 D1197E probably benign Het
Ncor1 A T 11: 62,329,659 probably benign Het
Olfr1390 A G 11: 49,341,306 Y258C probably benign Het
Pdcd1lg2 A G 19: 29,437,332 E53G probably benign Het
Phex G T X: 157,268,493 A469E probably damaging Het
Pigo A G 4: 43,019,352 S957P probably benign Het
Ppargc1b C A 18: 61,310,874 R422I probably damaging Het
Ppargc1b T A 18: 61,310,875 R406* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Thnsl1 G T 2: 21,211,854 A140S possibly damaging Het
Tm9sf3 A G 19: 41,246,637 probably benign Het
Tma7 T A 9: 109,082,085 probably benign Het
Tmtc2 T G 10: 105,348,493 S514R probably benign Het
Unc79 G A 12: 102,998,747 probably null Het
Wdr89 A T 12: 75,633,123 I119N probably damaging Het
Wiz C A 17: 32,356,902 R843S probably damaging Het
Zfp275 T A X: 73,353,283 S12T probably damaging Het
Other mutations in Gpr107
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Gpr107 APN 2 31171994 missense probably benign 0.00
IGL00828:Gpr107 APN 2 31177783 critical splice acceptor site probably null
IGL01138:Gpr107 APN 2 31172016 missense probably benign 0.06
IGL01589:Gpr107 APN 2 31167151 splice site probably benign
IGL02164:Gpr107 APN 2 31178286 nonsense probably null
IGL02190:Gpr107 APN 2 31178320 missense probably damaging 1.00
IGL02234:Gpr107 APN 2 31177833 missense probably damaging 1.00
IGL02838:Gpr107 APN 2 31214317 missense probably benign 0.01
PIT4142001:Gpr107 UTSW 2 31167071 missense probably benign 0.18
R0613:Gpr107 UTSW 2 31178285 missense probably damaging 1.00
R0630:Gpr107 UTSW 2 31214297 missense possibly damaging 0.89
R0735:Gpr107 UTSW 2 31171994 missense probably benign 0.00
R1263:Gpr107 UTSW 2 31178255 missense possibly damaging 0.82
R1572:Gpr107 UTSW 2 31167025 missense probably damaging 1.00
R1675:Gpr107 UTSW 2 31167051 missense possibly damaging 0.77
R2421:Gpr107 UTSW 2 31185529 missense probably damaging 1.00
R4569:Gpr107 UTSW 2 31207665 splice site probably benign
R4647:Gpr107 UTSW 2 31210501 missense probably damaging 1.00
R4656:Gpr107 UTSW 2 31214249 missense probably damaging 1.00
R4844:Gpr107 UTSW 2 31188674 splice site probably null
R5385:Gpr107 UTSW 2 31214251 missense probably benign 0.01
R5416:Gpr107 UTSW 2 31185548 missense probably damaging 1.00
R5562:Gpr107 UTSW 2 31152363 missense probably damaging 1.00
R5564:Gpr107 UTSW 2 31152363 missense probably damaging 1.00
R5652:Gpr107 UTSW 2 31185589 missense probably benign 0.16
R6075:Gpr107 UTSW 2 31152372 missense probably benign 0.05
R7186:Gpr107 UTSW 2 31152359 start codon destroyed possibly damaging 0.59
R7511:Gpr107 UTSW 2 31178346 missense probably benign 0.03
R7587:Gpr107 UTSW 2 31168826 missense probably benign
Posted On2015-04-16