Incidental Mutation 'R5416:Gpr107'
ID 427710
Institutional Source Beutler Lab
Gene Symbol Gpr107
Ensembl Gene ENSMUSG00000000194
Gene Name G protein-coupled receptor 107
Synonyms
MMRRC Submission 042985-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5416 (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 A at 31075560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 357 (I357N)
Ref Sequence ENSEMBL: ENSMUSP00000056739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056433]
AlphaFold Q8BUV8
Predicted Effect probably damaging
Transcript: ENSMUST00000056433
AA Change: I357N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: I357N

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Lung_7-TM_R 213 504 3e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172422
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,871,331 (GRCm39) E689D probably damaging Het
Acsl6 A G 11: 54,227,997 (GRCm39) E339G probably benign Het
Adcy3 G A 12: 4,259,308 (GRCm39) E861K probably damaging Het
Adrm1 C T 2: 179,817,930 (GRCm39) T394I probably benign Het
Adsl T A 15: 80,836,384 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,551 (GRCm39) C1854S probably damaging Het
C87436 A G 6: 86,442,832 (GRCm39) Y458C probably damaging Het
Cacna1e T C 1: 154,341,525 (GRCm39) D1161G probably damaging Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Ccr1 G T 9: 123,764,413 (GRCm39) P39H probably damaging Het
Cdh18 A G 15: 23,226,809 (GRCm39) Y90C probably damaging Het
Chadl T C 15: 81,578,100 (GRCm39) R510G probably benign Het
Clcnkb T C 4: 141,141,211 (GRCm39) T115A probably benign Het
Clptm1 C A 7: 19,367,741 (GRCm39) probably benign Het
Col24a1 A T 3: 145,020,786 (GRCm39) R386* probably null Het
Ctsj G T 13: 61,152,337 (GRCm39) L10M probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dhx40 T C 11: 86,688,517 (GRCm39) D302G probably benign Het
Edrf1 T C 7: 133,243,131 (GRCm39) F166L possibly damaging Het
Epha1 A T 6: 42,342,805 (GRCm39) M248K probably damaging Het
Evpl C A 11: 116,125,085 (GRCm39) V126L probably benign Het
Fam83d T C 2: 158,627,552 (GRCm39) C414R possibly damaging Het
Fat2 T C 11: 55,194,514 (GRCm39) N1175S possibly damaging Het
Fhad1 G A 4: 141,646,113 (GRCm39) T283I probably benign Het
Fuca1 A G 4: 135,650,291 (GRCm39) T121A probably damaging Het
Gm13941 A T 2: 110,925,079 (GRCm39) S175T unknown Het
Gpr161 T A 1: 165,149,030 (GRCm39) H466Q probably benign Het
Hsd3b5 A G 3: 98,526,466 (GRCm39) F327L probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Itgb7 A T 15: 102,125,744 (GRCm39) D628E probably benign Het
Nwd1 A G 8: 73,393,322 (GRCm39) D236G possibly damaging Het
Or56b2j C T 7: 104,352,923 (GRCm39) L50F probably benign Het
Or6d14 A T 6: 116,534,166 (GRCm39) Y260F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 A G 18: 37,490,008 (GRCm39) Y562C probably damaging Het
Phkg2 A G 7: 127,182,107 (GRCm39) H376R possibly damaging Het
Plxnc1 G A 10: 94,673,416 (GRCm39) T1018I probably damaging Het
Ppp6r1 A T 7: 4,642,747 (GRCm39) D532E possibly damaging Het
Prkdc T C 16: 15,623,814 (GRCm39) L3259P probably damaging Het
Prkg2 A T 5: 99,091,326 (GRCm39) D641E probably benign Het
Psg26 T C 7: 18,216,525 (GRCm39) T105A probably benign Het
Ptprs T C 17: 56,742,724 (GRCm39) T473A probably damaging Het
Pwp2 G T 10: 78,018,835 (GRCm39) N57K probably damaging Het
Rnf216 G T 5: 143,001,526 (GRCm39) C733* probably null Het
Serpina1f T A 12: 103,660,203 (GRCm39) K26N possibly damaging Het
Sez6l2 T A 7: 126,561,058 (GRCm39) C448S probably damaging Het
Slc28a3 A T 13: 58,724,607 (GRCm39) L216M probably damaging Het
Sorbs1 A G 19: 40,365,433 (GRCm39) S117P probably benign Het
Sorl1 A T 9: 41,913,932 (GRCm39) C1332* probably null Het
Specc1 T C 11: 62,009,735 (GRCm39) V497A probably benign Het
Tmem204 T C 17: 25,277,300 (GRCm39) E195G probably damaging Het
Tnfrsf13b T C 11: 61,037,849 (GRCm39) probably null Het
Ttll5 G A 12: 86,059,602 (GRCm39) V1250M possibly damaging Het
Ube4a G A 9: 44,852,476 (GRCm39) T681I probably damaging Het
Ubqln3 C T 7: 103,790,879 (GRCm39) V404I probably benign Het
Yeats2 T C 16: 20,030,319 (GRCm39) S919P probably benign Het
Zfp575 C T 7: 24,286,147 (GRCm39) G3D probably benign Het
Zfp644 C T 5: 106,766,294 (GRCm39) silent 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
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
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'- GGCTTACAAAGACACTAATGGCTA -3'
(R):5'- CCCACAATGATATCAGTTCAGGT -3'

Sequencing Primer
(F):5'- GCAATTCCAGAGGTCCTGAGTTC -3'
(R):5'- ATCAGTTCAGGTTCCCAAGTGAGC -3'
Posted On 2016-09-01