Incidental Mutation 'IGL01138:Gpr107'
ID 50606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr107
Ensembl Gene ENSMUSG00000000194
Gene Name G protein-coupled receptor 107
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01138
Quality Score
Status
Chromosome 2
Chromosomal Location 31042099-31106579 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31062028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 152 (L152Q)
Ref Sequence ENSEMBL: ENSMUSP00000056739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056433]
AlphaFold Q8BUV8
Predicted Effect probably benign
Transcript: ENSMUST00000056433
AA Change: L152Q

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: L152Q

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
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgap44 A G 11: 64,932,275 (GRCm39) F215S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Coro1c G A 5: 113,990,222 (GRCm39) probably benign Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
Ermn G T 2: 57,942,707 (GRCm39) L8M possibly damaging Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Maml3 A G 3: 51,597,979 (GRCm39) S902P possibly damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Ncam2 T A 16: 81,314,467 (GRCm39) I481K probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Or13c7c A G 4: 43,835,617 (GRCm39) L291P probably damaging Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Shroom4 T C X: 6,497,257 (GRCm39) S806P probably damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc25a47 C T 12: 108,821,948 (GRCm39) R246C probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Gpr107
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Gpr107 APN 2 31,062,006 (GRCm39) missense probably benign 0.00
IGL00828:Gpr107 APN 2 31,067,795 (GRCm39) critical splice acceptor site probably null
IGL01589:Gpr107 APN 2 31,057,163 (GRCm39) splice site probably benign
IGL02164:Gpr107 APN 2 31,068,298 (GRCm39) nonsense probably null
IGL02176:Gpr107 APN 2 31,058,858 (GRCm39) missense probably benign 0.01
IGL02190:Gpr107 APN 2 31,068,332 (GRCm39) missense probably damaging 1.00
IGL02234:Gpr107 APN 2 31,067,845 (GRCm39) missense probably damaging 1.00
IGL02838:Gpr107 APN 2 31,104,329 (GRCm39) missense probably benign 0.01
PIT4142001:Gpr107 UTSW 2 31,057,083 (GRCm39) missense probably benign 0.18
R0613:Gpr107 UTSW 2 31,068,297 (GRCm39) missense probably damaging 1.00
R0630:Gpr107 UTSW 2 31,104,309 (GRCm39) missense possibly damaging 0.89
R0735:Gpr107 UTSW 2 31,062,006 (GRCm39) missense probably benign 0.00
R1263:Gpr107 UTSW 2 31,068,267 (GRCm39) missense possibly damaging 0.82
R1572:Gpr107 UTSW 2 31,057,037 (GRCm39) missense probably damaging 1.00
R1675:Gpr107 UTSW 2 31,057,063 (GRCm39) missense possibly damaging 0.77
R2421:Gpr107 UTSW 2 31,075,541 (GRCm39) missense probably damaging 1.00
R4569:Gpr107 UTSW 2 31,097,677 (GRCm39) splice site probably benign
R4647:Gpr107 UTSW 2 31,100,513 (GRCm39) missense probably damaging 1.00
R4656:Gpr107 UTSW 2 31,104,261 (GRCm39) missense probably damaging 1.00
R4844:Gpr107 UTSW 2 31,078,686 (GRCm39) splice site probably null
R5385:Gpr107 UTSW 2 31,104,263 (GRCm39) missense probably benign 0.01
R5416:Gpr107 UTSW 2 31,075,560 (GRCm39) missense probably damaging 1.00
R5562:Gpr107 UTSW 2 31,042,375 (GRCm39) missense probably damaging 1.00
R5564:Gpr107 UTSW 2 31,042,375 (GRCm39) missense probably damaging 1.00
R5652:Gpr107 UTSW 2 31,075,601 (GRCm39) missense probably benign 0.16
R6075:Gpr107 UTSW 2 31,042,384 (GRCm39) missense probably benign 0.05
R7186:Gpr107 UTSW 2 31,042,371 (GRCm39) start codon destroyed possibly damaging 0.59
R7511:Gpr107 UTSW 2 31,068,358 (GRCm39) missense probably benign 0.03
R7587:Gpr107 UTSW 2 31,058,838 (GRCm39) missense probably benign
R7946:Gpr107 UTSW 2 31,078,716 (GRCm39) missense probably damaging 1.00
R8108:Gpr107 UTSW 2 31,074,881 (GRCm39) missense probably damaging 1.00
R8518:Gpr107 UTSW 2 31,066,939 (GRCm39) missense probably benign
R9320:Gpr107 UTSW 2 31,078,728 (GRCm39) missense possibly damaging 0.93
R9661:Gpr107 UTSW 2 31,057,075 (GRCm39) missense probably benign 0.06
Posted On 2013-06-21