Incidental Mutation 'R1263:Gpr107'
ID 151642
Institutional Source Beutler Lab
Gene Symbol Gpr107
Ensembl Gene ENSMUSG00000000194
Gene Name G protein-coupled receptor 107
Synonyms
MMRRC Submission 039330-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1263 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 31042099-31106579 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 31068267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 243 (I243S)
Ref Sequence ENSEMBL: ENSMUSP00000056739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056433]
AlphaFold Q8BUV8
Predicted Effect possibly damaging
Transcript: ENSMUST00000056433
AA Change: I243S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: I243S

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A C 11: 109,832,433 (GRCm39) H1231Q possibly damaging Het
Acbd4 T A 11: 102,994,677 (GRCm39) probably null Het
Atp13a4 T A 16: 29,290,771 (GRCm39) Y226F possibly damaging Het
Brd3 A C 2: 27,352,534 (GRCm39) F132C probably damaging Het
Btaf1 A T 19: 36,933,924 (GRCm39) N184I probably benign Het
Ccdc180 A G 4: 45,903,887 (GRCm39) E351G possibly damaging Het
Ccdc185 A T 1: 182,574,918 (GRCm39) Y590* probably null Het
Chi3l1 G A 1: 134,116,980 (GRCm39) E315K probably benign Het
Col6a6 T A 9: 105,586,688 (GRCm39) M1778L probably benign Het
Cyp3a59 A C 5: 146,041,521 (GRCm39) Y355S probably damaging Het
Cyp4a31 A G 4: 115,431,908 (GRCm39) T396A probably benign Het
Dnaaf6rt A T 1: 31,262,296 (GRCm39) I93F probably damaging Het
Dnah6 A T 6: 73,121,948 (GRCm39) I1373N probably damaging Het
Dop1b C A 16: 93,574,274 (GRCm39) H1598N probably benign Het
Erich4 T A 7: 25,314,559 (GRCm39) K118M probably damaging Het
Gkap1 A T 13: 58,403,587 (GRCm39) V179E probably benign Het
Hs3st6 A G 17: 24,977,504 (GRCm39) N328S probably damaging Het
Kcnq5 A T 1: 21,549,602 (GRCm39) I375N probably damaging Het
Klhdc3 A T 17: 46,987,892 (GRCm39) H266Q probably benign Het
Krt71 C T 15: 101,643,901 (GRCm39) G446R probably damaging Het
L3mbtl2 A G 15: 81,567,169 (GRCm39) T423A probably benign Het
Mical3 T C 6: 120,929,430 (GRCm39) E1812G probably damaging Het
Nlrp1a A G 11: 70,987,948 (GRCm39) I1174T probably benign Het
Npas2 C A 1: 39,373,849 (GRCm39) Q450K possibly damaging Het
Nrp1 T A 8: 129,194,870 (GRCm39) I442N probably damaging Het
Or1j10 T A 2: 36,267,006 (GRCm39) S73T probably damaging Het
Or2y1 A T 11: 49,385,848 (GRCm39) M163L probably benign Het
Palld TGCGTAGCG TGCG 8: 61,966,491 (GRCm39) probably null Het
Pold3 T A 7: 99,768,890 (GRCm39) Q36L possibly damaging Het
Polg T C 7: 79,109,534 (GRCm39) T428A probably benign Het
Rfx7 T A 9: 72,484,329 (GRCm39) V57E possibly damaging Het
Rnf122 T G 8: 31,602,177 (GRCm39) M1R probably null Het
Sanbr A T 11: 23,570,278 (GRCm39) Y207* probably null Het
Scn10a T A 9: 119,446,799 (GRCm39) T1410S probably damaging Het
Serpinb13 T A 1: 106,928,466 (GRCm39) V362E probably damaging Het
Setdb1 T C 3: 95,234,922 (GRCm39) N927S probably damaging Het
Sft2d1 A G 17: 8,539,470 (GRCm39) K91R probably benign Het
Shprh A G 10: 11,035,274 (GRCm39) H327R probably damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Styxl1 G T 5: 135,782,737 (GRCm39) S117R probably damaging Het
Synj2 T C 17: 6,069,634 (GRCm39) F150L probably damaging Het
Tep1 C A 14: 51,082,970 (GRCm39) V1013L possibly damaging Het
Tgfbi T A 13: 56,778,468 (GRCm39) L413Q probably damaging Het
Tmc5 G A 7: 118,266,093 (GRCm39) R789Q probably damaging Het
Tonsl T A 15: 76,506,762 (GRCm39) I115F possibly damaging Het
Trim38 A G 13: 23,975,117 (GRCm39) Y352C probably damaging Het
Txnl4a T A 18: 80,250,536 (GRCm39) V44D probably benign Het
Vars2 A G 17: 35,972,501 (GRCm39) V39A probably damaging Het
Vmn2r105 A G 17: 20,428,584 (GRCm39) C831R probably damaging Het
Vmn2r26 T A 6: 124,027,667 (GRCm39) I469N probably benign Het
Vmn2r53 T C 7: 12,315,533 (GRCm39) Y762C probably benign Het
Vps13d T A 4: 144,896,918 (GRCm39) Q334L probably benign Het
Zfp277 A T 12: 40,414,164 (GRCm39) I227N probably damaging 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
IGL01138:Gpr107 APN 2 31,062,028 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- TGAGTACCTCACGGGACATCGATAG -3'
(R):5'- TGAAATCTTGCAGCTCTCCACACAC -3'

Sequencing Primer
(F):5'- CATCCTGAGGGTATGTGAACC -3'
(R):5'- ACTCAAGCACTTACCTTCTCTTACG -3'
Posted On 2014-01-29