Incidental Mutation 'IGL00828:Gpr107'
ID11084
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 #IGL00828
Quality Score
Status
Chromosome2
Chromosomal Location31152316-31218775 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 31177783 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056433]
Predicted Effect probably null
Transcript: ENSMUST00000056433
SMART Domains Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194

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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,488,119 I372F possibly damaging Het
Dcaf6 G A 1: 165,338,347 probably benign Het
Dph7 A T 2: 24,971,643 Q356L probably benign Het
Kmt2a T C 9: 44,820,776 probably benign Het
Pign A T 1: 105,554,120 Y816N probably damaging Het
Slc17a5 G A 9: 78,578,551 A84V probably benign Het
Trim6 A G 7: 104,230,743 T230A probably benign Het
Usp40 G A 1: 87,978,306 probably benign Het
Zfp980 A T 4: 145,701,991 H430L probably benign Het
Zmpste24 G A 4: 121,074,520 R303C possibly damaging Het
Other mutations in Gpr107
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Gpr107 APN 2 31171994 missense probably benign 0.00
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
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
Posted On2012-12-06