Incidental Mutation 'IGL02488:Vmn1r46'
ID295501
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: 0.053) question?
Stock #IGL02488
Quality Score
Status
Chromosome6
Chromosomal Location89969313-89986721 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89976981 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 271 (C271S)
Ref Sequence ENSEMBL: ENSMUSP00000154175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075797] [ENSMUST00000205088] [ENSMUST00000226715] [ENSMUST00000228231] [ENSMUST00000228349] [ENSMUST00000228401]
Predicted Effect probably benign
Transcript: ENSMUST00000075797
AA Change: C271S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000075197
Gene: ENSMUSG00000061653
AA Change: C271S

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 301 5.9e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205088
AA Change: C271S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144888
Gene: ENSMUSG00000061653
AA Change: C271S

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 301 5.9e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226715
AA Change: C271S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000228231
AA Change: C271S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000228349
AA Change: C271S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000228401
AA Change: C271S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Vmn1r46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Vmn1r46 APN 6 89976904 missense probably damaging 1.00
IGL03116:Vmn1r46 APN 6 89976916 missense probably benign 0.16
IGL03270:Vmn1r46 APN 6 89976774 missense probably damaging 1.00
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 On2015-04-16