Incidental Mutation 'IGL03083:Vmn1r54'
ID 417941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r54
Ensembl Gene ENSMUSG00000047203
Gene Name vomeronasal 1 receptor 54
Synonyms V1ra9, VN7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03083
Quality Score
Status
Chromosome 6
Chromosomal Location 90246088-90247035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90246854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 256 (I256T)
Ref Sequence ENSEMBL: ENSMUSP00000154354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058039] [ENSMUST00000226921]
AlphaFold Q9EPB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000058039
AA Change: I256T

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063052
Gene: ENSMUSG00000047203
AA Change: I256T

DomainStartEndE-ValueType
Pfam:TAS2R 11 307 1.2e-11 PFAM
Pfam:V1R 38 301 5.5e-94 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000226921
AA Change: I256T

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Vmn1r54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01912:Vmn1r54 APN 6 90,246,442 (GRCm39) missense probably damaging 1.00
IGL02421:Vmn1r54 APN 6 90,246,133 (GRCm39) missense probably benign 0.01
IGL02535:Vmn1r54 APN 6 90,246,260 (GRCm39) missense possibly damaging 0.78
R0646:Vmn1r54 UTSW 6 90,246,635 (GRCm39) missense probably benign 0.00
R2047:Vmn1r54 UTSW 6 90,246,970 (GRCm39) missense probably damaging 1.00
R4409:Vmn1r54 UTSW 6 90,246,864 (GRCm39) nonsense probably null
R4467:Vmn1r54 UTSW 6 90,246,253 (GRCm39) missense probably damaging 1.00
R4812:Vmn1r54 UTSW 6 90,246,307 (GRCm39) missense probably benign 0.22
R5042:Vmn1r54 UTSW 6 90,246,422 (GRCm39) missense possibly damaging 0.53
R5555:Vmn1r54 UTSW 6 90,246,347 (GRCm39) missense probably benign 0.02
R6183:Vmn1r54 UTSW 6 90,246,272 (GRCm39) missense possibly damaging 0.61
R6393:Vmn1r54 UTSW 6 90,246,304 (GRCm39) missense probably benign 0.45
R7216:Vmn1r54 UTSW 6 90,246,647 (GRCm39) missense probably damaging 1.00
R7480:Vmn1r54 UTSW 6 90,246,160 (GRCm39) missense possibly damaging 0.58
R8413:Vmn1r54 UTSW 6 90,246,413 (GRCm39) missense probably damaging 1.00
R8995:Vmn1r54 UTSW 6 90,246,668 (GRCm39) missense probably benign 0.22
R9055:Vmn1r54 UTSW 6 90,246,100 (GRCm39) missense probably benign 0.24
R9383:Vmn1r54 UTSW 6 90,247,009 (GRCm39) missense probably benign 0.03
R9406:Vmn1r54 UTSW 6 90,246,092 (GRCm39) missense probably damaging 0.99
R9657:Vmn1r54 UTSW 6 90,246,984 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02