Incidental Mutation 'IGL03270:Vmn1r46'
ID415215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r46
Ensembl Gene ENSMUSG00000061653
Gene Namevomeronasal 1 receptor 46
SynonymsV1rb8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL03270
Quality Score
Status
Chromosome6
Chromosomal Location89969313-89986721 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89976774 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 202 (S202T)
Ref Sequence ENSEMBL: ENSMUSP00000154175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075797] [ENSMUST00000205088] [ENSMUST00000226715] [ENSMUST00000228231] [ENSMUST00000228349] [ENSMUST00000228401]
Predicted Effect probably damaging
Transcript: ENSMUST00000075797
AA Change: S202T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075197
Gene: ENSMUSG00000061653
AA Change: S202T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 301 5.9e-132 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205088
AA Change: S202T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144888
Gene: ENSMUSG00000061653
AA Change: S202T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 301 5.9e-132 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226715
AA Change: S202T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000228231
AA Change: S202T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000228349
AA Change: S202T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000228401
AA Change: S202T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,609,727 probably null Het
Fcmr A T 1: 130,876,042 R194S possibly damaging Het
Fmo2 A G 1: 162,882,026 F264S probably damaging Het
Gfra2 A G 14: 70,925,904 D209G possibly damaging Het
Gm4951 A G 18: 60,245,476 K28E probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kifap3 T A 1: 163,848,733 M419K probably benign Het
Lgr6 A C 1: 134,997,704 I133S probably damaging Het
Med13l A C 5: 118,731,430 N811T probably damaging Het
Olfr1223 A G 2: 89,144,745 F93L probably damaging Het
Olfr420 T A 1: 174,159,553 M260K probably benign Het
Pappa2 T A 1: 158,765,067 D1580V possibly damaging Het
Ppp4r2 T G 6: 100,863,125 N72K probably damaging Het
Prr27 T C 5: 87,835,678 probably benign Het
Rad51d A G 11: 82,881,594 probably benign Het
Rel T C 11: 23,742,584 N483S probably benign Het
Scn9a A G 2: 66,484,014 F1776L probably damaging Het
Slco5a1 G A 1: 12,872,028 T798I probably benign Het
Ttn T C 2: 76,776,467 D18033G probably damaging Het
Vmn2r110 T G 17: 20,583,516 M266L probably benign Het
Vmn2r26 A T 6: 124,050,819 D506V probably benign Het
Zbtb1 T C 12: 76,385,515 S92P possibly damaging Het
Other mutations in Vmn1r46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Vmn1r46 APN 6 89976904 missense probably damaging 1.00
IGL02488:Vmn1r46 APN 6 89976981 missense probably benign 0.10
IGL03116:Vmn1r46 APN 6 89976916 missense probably benign 0.16
R0109:Vmn1r46 UTSW 6 89977062 missense probably benign 0.03
R0126:Vmn1r46 UTSW 6 89976953 missense probably benign
R0681:Vmn1r46 UTSW 6 89976964 missense probably damaging 1.00
R1501:Vmn1r46 UTSW 6 89976216 missense probably benign 0.03
R1717:Vmn1r46 UTSW 6 89976829 missense probably damaging 1.00
R1937:Vmn1r46 UTSW 6 89976734 missense probably benign 0.00
R4323:Vmn1r46 UTSW 6 89976367 missense probably benign 0.06
R5449:Vmn1r46 UTSW 6 89976361 missense probably benign 0.18
R6062:Vmn1r46 UTSW 6 89976259 missense possibly damaging 0.64
R6385:Vmn1r46 UTSW 6 89976445 missense probably damaging 0.99
R6431:Vmn1r46 UTSW 6 89976407 missense probably benign 0.13
R7126:Vmn1r46 UTSW 6 89976994 missense possibly damaging 0.79
R7391:Vmn1r46 UTSW 6 89976625 missense probably benign 0.23
Z1088:Vmn1r46 UTSW 6 89976741 missense probably damaging 1.00
Posted On2016-08-02