Incidental Mutation 'IGL03250:Vmn1r70'
ID414526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r70
Ensembl Gene ENSMUSG00000045340
Gene Namevomeronasal 1 receptor 70
SynonymsV1rl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL03250
Quality Score
Status
Chromosome7
Chromosomal Location10631532-10636530 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 10634281 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 232 (T232I)
Ref Sequence ENSEMBL: ENSMUSP00000154041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055847] [ENSMUST00000226255] [ENSMUST00000228090]
Predicted Effect probably damaging
Transcript: ENSMUST00000055847
AA Change: T232I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054445
Gene: ENSMUSG00000045340
AA Change: T232I

DomainStartEndE-ValueType
Pfam:TAS2R 1 292 2.6e-9 PFAM
Pfam:V1R 33 295 3.1e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226182
Predicted Effect probably damaging
Transcript: ENSMUST00000226255
AA Change: T232I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000228090
AA Change: T213I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik T C 3: 91,090,408 probably benign Het
Bnipl C T 3: 95,244,139 probably benign Het
Calb2 G T 8: 110,143,107 L265I probably benign Het
Cdhr4 C T 9: 107,996,659 R442C probably damaging Het
Cep192 T C 18: 67,807,355 V131A probably benign Het
Ctnnal1 G T 4: 56,812,356 N723K probably benign Het
Dclre1b T C 3: 103,804,064 probably null Het
Hdac4 A C 1: 91,934,600 probably null Het
Mms19 A T 19: 41,954,464 probably null Het
Myh7 A T 14: 54,992,247 M113K probably damaging Het
Pkdrej T C 15: 85,821,355 T127A possibly damaging Het
Plekhm3 A G 1: 64,938,047 V88A possibly damaging Het
Slc17a5 A G 9: 78,578,564 S80P probably damaging Het
Suclg1 A G 6: 73,270,992 N232S probably benign Het
Upk1a A T 7: 30,606,978 V121E possibly damaging Het
Vmn2r4 G A 3: 64,406,642 T306I probably damaging Het
Wdfy4 A T 14: 32,977,167 M2524K probably damaging Het
Wdr6 A G 9: 108,573,197 V1044A possibly damaging Het
Zfp809 A G 9: 22,238,635 T143A possibly damaging Het
Other mutations in Vmn1r70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03092:Vmn1r70 APN 7 10634259 missense probably benign 0.23
R0375:Vmn1r70 UTSW 7 10634060 missense probably damaging 1.00
R0482:Vmn1r70 UTSW 7 10634277 missense probably damaging 1.00
R0497:Vmn1r70 UTSW 7 10634026 missense probably benign 0.19
R1964:Vmn1r70 UTSW 7 10633810 missense possibly damaging 0.88
R2067:Vmn1r70 UTSW 7 10634337 missense possibly damaging 0.61
R3807:Vmn1r70 UTSW 7 10633788 missense probably benign 0.01
R4573:Vmn1r70 UTSW 7 10633629 splice site probably null
R5070:Vmn1r70 UTSW 7 10634398 missense probably benign 0.04
R5442:Vmn1r70 UTSW 7 10633950 missense possibly damaging 0.69
R5558:Vmn1r70 UTSW 7 10634475 missense probably benign 0.01
R6036:Vmn1r70 UTSW 7 10633903 missense probably damaging 1.00
R6036:Vmn1r70 UTSW 7 10633903 missense probably damaging 1.00
R6189:Vmn1r70 UTSW 7 10633671 missense probably benign 0.04
R6976:Vmn1r70 UTSW 7 10634044 missense probably benign 0.02
R7571:Vmn1r70 UTSW 7 10633944 missense probably benign 0.00
X0020:Vmn1r70 UTSW 7 10633590 missense probably benign
Posted On2016-08-02