Incidental Mutation 'IGL02190:Gpr107'
ID283833
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 #IGL02190
Quality Score
Status
Chromosome2
Chromosomal Location31152316-31218775 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 31178320 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 265 (Y265N)
Ref Sequence ENSEMBL: ENSMUSP00000056739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056433]
Predicted Effect probably damaging
Transcript: ENSMUST00000056433
AA Change: Y265N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: Y265N

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: 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,140,724 probably benign Het
AI314180 A T 4: 58,800,190 S1838R probably benign Het
Ano1 T C 7: 144,618,883 E521G probably benign Het
As3mt A T 19: 46,719,945 I224F probably benign Het
Atp5j2 C A 5: 145,183,832 probably benign Het
Cacna1h A G 17: 25,433,026 V48A probably benign Het
Ctu2 T C 8: 122,481,658 probably benign Het
Efcab5 T C 11: 77,121,314 R841G probably benign Het
Erbb3 A T 10: 128,571,010 probably null Het
Fkbp15 G T 4: 62,304,822 P947T possibly damaging Het
Gabpb1 A G 2: 126,653,549 probably benign Het
Gcn1l1 G T 5: 115,614,124 V2100L probably damaging Het
Gemin5 A C 11: 58,134,842 V977G probably damaging Het
Gpx8 T C 13: 113,043,309 probably benign Het
H2-Eb2 A T 17: 34,334,374 N178I probably damaging Het
Ift172 C T 5: 31,254,458 V1587I possibly damaging Het
Lrrc45 A G 11: 120,718,508 T398A probably damaging Het
Mmrn1 G T 6: 60,987,193 V1059L probably benign Het
Morn5 A G 2: 36,079,515 D147G probably benign Het
Mphosph9 T C 5: 124,265,425 R847G possibly damaging Het
Nutm1 C T 2: 112,249,406 W721* probably null Het
Olfr1136 A G 2: 87,693,063 M273T probably benign Het
Olfr347 T C 2: 36,734,579 L86P probably benign Het
Olfr531 T C 7: 140,400,120 probably benign Het
Rgl3 A G 9: 21,981,708 F227L probably benign Het
Ropn1l G T 15: 31,443,341 L182I probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scgb1a1 A T 19: 9,087,867 L12Q probably damaging Het
Scp2 A G 4: 108,087,128 S237P probably benign Het
Skint5 T C 4: 113,940,765 Q207R possibly damaging Het
Slc16a5 A G 11: 115,462,609 M1V probably null Het
Tox2 G A 2: 163,323,006 R522H possibly damaging Het
Trip12 A T 1: 84,766,070 N505K probably damaging Het
Tuba1c G A 15: 99,037,989 D444N unknown Het
Vmn1r174 A G 7: 23,754,827 E306G unknown Het
Vmn2r111 A T 17: 22,570,773 F417L probably benign Het
Vmn2r15 A T 5: 109,293,374 M206K probably damaging Het
Vmn2r95 G T 17: 18,451,776 A592S probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null 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
IGL02176:Gpr107 APN 2 31168846 missense probably benign 0.01
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
R7946:Gpr107 UTSW 2 31188704 missense probably damaging 1.00
R8108:Gpr107 UTSW 2 31184869 missense probably damaging 1.00
R8518:Gpr107 UTSW 2 31176927 missense probably benign
Posted On2015-04-16