Incidental Mutation 'IGL02469:Vmn1r47'
ID 294647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r47
Ensembl Gene ENSMUSG00000060724
Gene Name vomeronasal 1 receptor 47
Synonyms V1ra4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02469
Quality Score
Status
Chromosome 6
Chromosomal Location 89998870-89999802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89999435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 189 (L189P)
Ref Sequence ENSEMBL: ENSMUSP00000154134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074881] [ENSMUST00000227229] [ENSMUST00000227811] [ENSMUST00000228680]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074881
AA Change: L189P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074422
Gene: ENSMUSG00000060724
AA Change: L189P

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 302 5.8e-128 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227229
AA Change: L189P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000227811
AA Change: L189P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000228680
AA Change: L189P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,645,074 (GRCm39) Q975L probably damaging Het
Acad10 T C 5: 121,783,522 (GRCm39) Y301C probably damaging Het
Akr7a5 T A 4: 139,041,492 (GRCm39) S134T probably damaging Het
Aldh4a1 C T 4: 139,375,472 (GRCm39) T527I probably damaging Het
Atf2 A G 2: 73,676,676 (GRCm39) V146A probably damaging Het
C2cd6 A T 1: 59,036,640 (GRCm39) probably benign Het
Caml T C 13: 55,776,390 (GRCm39) S210P probably damaging Het
Casp1 A C 9: 5,303,105 (GRCm39) R186S probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr1 T A 14: 36,807,557 (GRCm39) Q361L possibly damaging Het
Chrna3 T A 9: 54,923,290 (GRCm39) T173S probably benign Het
Commd6 A G 14: 101,874,463 (GRCm39) V47A probably damaging Het
Dmrtc2 T C 7: 24,572,138 (GRCm39) probably benign Het
Dock3 T C 9: 106,863,215 (GRCm39) D721G probably damaging Het
Dpp10 T C 1: 123,339,532 (GRCm39) S332G probably benign Het
Dst A G 1: 34,227,909 (GRCm39) E1834G probably damaging Het
Espl1 T A 15: 102,222,460 (GRCm39) L1034Q probably damaging Het
Gtf2ird2 C T 5: 134,220,088 (GRCm39) T22M probably damaging Het
Hyal2 T C 9: 107,449,411 (GRCm39) L389P probably damaging Het
Lipa T C 19: 34,471,435 (GRCm39) D380G probably damaging Het
Marchf5 T G 19: 37,194,674 (GRCm39) W111G probably damaging Het
Or8h7 T C 2: 86,721,499 (GRCm39) T7A possibly damaging Het
Pfkfb2 A T 1: 130,627,774 (GRCm39) I391N probably damaging Het
Sec31a T C 5: 100,533,114 (GRCm39) S544G probably benign Het
Slc26a9 A G 1: 131,690,674 (GRCm39) K530E probably damaging Het
Spaca3 G A 11: 80,754,911 (GRCm39) probably null Het
Syne3 T C 12: 104,920,565 (GRCm39) S544G probably benign Het
Tctn3 T C 19: 40,585,967 (GRCm39) E526G probably benign Het
Tll1 A T 8: 64,523,314 (GRCm39) I466K probably benign Het
Ttbk1 A G 17: 46,781,556 (GRCm39) V399A possibly damaging Het
Vmn2r100 T A 17: 19,751,547 (GRCm39) L530* probably null Het
Yipf3 T C 17: 46,561,384 (GRCm39) probably null Het
Other mutations in Vmn1r47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02161:Vmn1r47 APN 6 89,999,298 (GRCm39) nonsense probably null
R0335:Vmn1r47 UTSW 6 89,999,641 (GRCm39) missense probably damaging 1.00
R0627:Vmn1r47 UTSW 6 89,999,788 (GRCm39) missense probably null 0.01
R0846:Vmn1r47 UTSW 6 89,999,657 (GRCm39) missense probably benign 0.06
R4993:Vmn1r47 UTSW 6 89,999,740 (GRCm39) missense possibly damaging 0.79
R5270:Vmn1r47 UTSW 6 89,999,525 (GRCm39) missense probably damaging 0.99
R5450:Vmn1r47 UTSW 6 89,999,195 (GRCm39) missense probably damaging 1.00
R5742:Vmn1r47 UTSW 6 89,999,500 (GRCm39) missense probably damaging 1.00
R6163:Vmn1r47 UTSW 6 89,999,773 (GRCm39) missense probably damaging 0.99
R7180:Vmn1r47 UTSW 6 89,999,335 (GRCm39) missense probably damaging 1.00
R7325:Vmn1r47 UTSW 6 89,999,254 (GRCm39) missense probably benign 0.00
R9470:Vmn1r47 UTSW 6 89,999,777 (GRCm39) missense probably null 0.76
Posted On 2015-04-16