Incidental Mutation 'IGL02476:Vmn1r43'
ID294933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r43
Ensembl Gene ENSMUSG00000068231
Gene Namevomeronasal 1 receptor 43
SynonymsV1ra5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL02476
Quality Score
Status
Chromosome6
Chromosomal Location89858934-89876413 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89870061 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 148 (I148F)
Ref Sequence ENSEMBL: ENSMUSP00000154510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089418] [ENSMUST00000226741] [ENSMUST00000226983] [ENSMUST00000227279] [ENSMUST00000228709]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089418
AA Change: I148F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086839
Gene: ENSMUSG00000068231
AA Change: I148F

DomainStartEndE-ValueType
Pfam:V1R 54 318 2.9e-126 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226240
Predicted Effect possibly damaging
Transcript: ENSMUST00000226741
AA Change: I148F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226983
AA Change: I148F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000227279
Predicted Effect possibly damaging
Transcript: ENSMUST00000228709
AA Change: I148F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T A 1: 74,281,524 probably benign Het
Birc6 A G 17: 74,696,391 E4752G possibly damaging Het
Chd1 C T 17: 15,734,273 P468S probably damaging Het
Cnot3 A G 7: 3,658,068 D556G probably benign Het
Csnk1d A G 11: 120,972,512 Y201H probably damaging Het
Dhtkd1 A G 2: 5,930,906 S132P possibly damaging Het
Dhx58 G T 11: 100,702,264 Q206K probably benign Het
Dio1 C A 4: 107,292,377 V195F probably damaging Het
Dio3 T C 12: 110,279,482 V84A probably benign Het
Extl3 T C 14: 65,077,244 K163R probably benign Het
Fat2 A T 11: 55,311,124 S375T probably damaging Het
Fbrs A G 7: 127,487,669 D73G probably damaging Het
Fnip1 A G 11: 54,499,567 probably benign Het
Frmpd4 A G X: 167,497,855 V343A probably damaging Het
Gcc1 T C 6: 28,420,469 D283G probably benign Het
Ghr T C 15: 3,320,046 D550G probably damaging Het
Glycam1 G A 15: 103,562,880 probably benign Het
Gpatch8 A G 11: 102,478,591 S1374P probably damaging Het
Grm1 A T 10: 10,689,453 M1037K probably benign Het
Gtpbp3 T C 8: 71,492,598 L438P probably damaging Het
Ifi205 G T 1: 174,015,061 N356K probably damaging Het
Ifi206 A G 1: 173,481,566 L288P probably benign Het
Ift57 T C 16: 49,763,889 V291A probably benign Het
Kif13a A C 13: 46,785,296 C166G probably damaging Het
Lypd6 A G 2: 50,190,728 T143A possibly damaging Het
Mtus2 G A 5: 148,077,938 A514T probably benign Het
Neu2 T C 1: 87,596,952 W220R probably damaging Het
Notch3 T C 17: 32,158,638 S155G possibly damaging Het
Nrxn2 A G 19: 6,454,985 E286G probably damaging Het
Onecut3 A G 10: 80,513,890 E406G probably benign Het
Oog2 T A 4: 144,195,229 D236E probably benign Het
Pck1 A G 2: 173,158,282 H502R probably benign Het
Pld1 A G 3: 28,048,039 Y313C probably damaging Het
Rhox3f A T X: 37,581,539 probably benign Het
Rpl34 A G 3: 130,726,964 probably benign Het
Sema4c T C 1: 36,555,950 K31E probably damaging Het
Sept11 T C 5: 93,148,584 probably null Het
Slc4a9 T A 18: 36,535,445 probably null Het
Snrnp200 T A 2: 127,217,488 S434T probably benign Het
Snx13 A T 12: 35,086,941 I134F probably damaging Het
Syt2 T C 1: 134,747,631 S407P probably benign Het
Tbc1d19 T C 5: 53,889,413 probably null Het
Tbc1d32 G T 10: 56,198,542 Q192K possibly damaging Het
Ubr4 T A 4: 139,421,249 C1681* probably null Het
Vwa8 T C 14: 78,925,341 V187A possibly damaging Het
Wdr78 T A 4: 103,087,348 I3L possibly damaging Het
Other mutations in Vmn1r43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01748:Vmn1r43 APN 6 89870312 missense probably damaging 1.00
IGL02958:Vmn1r43 APN 6 89870049 missense probably benign 0.09
R0413:Vmn1r43 UTSW 6 89869848 missense probably damaging 1.00
R1662:Vmn1r43 UTSW 6 89869590 missense possibly damaging 0.76
R1668:Vmn1r43 UTSW 6 89869701 missense probably benign 0.01
R4419:Vmn1r43 UTSW 6 89869647 missense probably benign 0.01
R4719:Vmn1r43 UTSW 6 89869855 missense probably benign 0.02
R4798:Vmn1r43 UTSW 6 89869910 missense probably benign 0.01
R5520:Vmn1r43 UTSW 6 89869746 missense probably damaging 0.98
R5643:Vmn1r43 UTSW 6 89870372 missense probably damaging 1.00
R5644:Vmn1r43 UTSW 6 89870372 missense probably damaging 1.00
R5717:Vmn1r43 UTSW 6 89869923 missense probably damaging 1.00
R6647:Vmn1r43 UTSW 6 89869859 missense probably damaging 1.00
R6914:Vmn1r43 UTSW 6 89870337 missense probably benign 0.02
R6942:Vmn1r43 UTSW 6 89870337 missense probably benign 0.02
R7092:Vmn1r43 UTSW 6 89869903 missense probably benign 0.02
R7402:Vmn1r43 UTSW 6 89869821 missense probably benign 0.02
R7457:Vmn1r43 UTSW 6 89870190 missense probably damaging 0.98
X0020:Vmn1r43 UTSW 6 89870334 missense probably benign 0.00
Posted On2015-04-16