Incidental Mutation 'IGL02421:Vmn1r54'
ID 292654
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 # IGL02421
Quality Score
Status
Chromosome 6
Chromosomal Location 90246088-90247035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90246133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 16 (A16T)
Ref Sequence ENSEMBL: ENSMUSP00000154354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058039] [ENSMUST00000226921]
AlphaFold Q9EPB8
Predicted Effect probably benign
Transcript: ENSMUST00000058039
AA Change: A16T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000063052
Gene: ENSMUSG00000047203
AA Change: A16T

DomainStartEndE-ValueType
Pfam:TAS2R 11 307 1.2e-11 PFAM
Pfam:V1R 38 301 5.5e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226921
AA Change: A16T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 154,892,672 (GRCm39) F117S probably damaging Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Acacb A G 5: 114,361,939 (GRCm39) T1394A probably benign Het
Adam19 A G 11: 46,028,380 (GRCm39) N671S probably damaging Het
Akap13 A T 7: 75,367,554 (GRCm39) N1815I possibly damaging Het
Aloxe3 A G 11: 69,020,872 (GRCm39) D199G possibly damaging Het
Ap1g2 G A 14: 55,339,859 (GRCm39) A440V probably damaging Het
Bmt2 G T 6: 13,628,841 (GRCm39) Q281K probably damaging Het
Celsr3 T C 9: 108,717,662 (GRCm39) F2243L probably damaging Het
Cenpb G A 2: 131,021,601 (GRCm39) R66C probably damaging Het
Chl1 A T 6: 103,694,541 (GRCm39) H1121L probably damaging Het
Cpb1 T C 3: 20,306,148 (GRCm39) Y344C probably damaging Het
Cspg5 T A 9: 110,076,460 (GRCm39) probably benign Het
Dnah11 T C 12: 118,150,637 (GRCm39) N374D probably damaging Het
Dnah3 A G 7: 119,550,215 (GRCm39) V3368A possibly damaging Het
Eml4 T C 17: 83,785,321 (GRCm39) S829P probably benign Het
Got2-ps1 T C 5: 138,362,811 (GRCm39) noncoding transcript Het
Hal T C 10: 93,339,335 (GRCm39) C475R probably damaging Het
Mapkbp1 C T 2: 119,850,136 (GRCm39) P806S possibly damaging Het
Mmrn1 A T 6: 60,921,806 (GRCm39) T88S probably benign Het
Napsa A G 7: 44,234,479 (GRCm39) H237R probably damaging Het
Opn5 C T 17: 42,907,446 (GRCm39) probably benign Het
Or1d2 T C 11: 74,256,017 (GRCm39) I174T probably damaging Het
Or4c110 T C 2: 88,831,688 (GRCm39) probably null Het
Or51f2 T C 7: 102,526,966 (GRCm39) I213T probably damaging Het
Or56b2 A G 7: 104,337,740 (GRCm39) N173D probably benign Het
Pira12 T C 7: 3,899,994 (GRCm39) N203D possibly damaging Het
Polb C T 8: 23,130,389 (GRCm39) G179D probably damaging Het
Primpol G T 8: 47,060,830 (GRCm39) probably benign Het
Prom2 T A 2: 127,373,802 (GRCm39) probably null Het
Psmb10 A G 8: 106,664,124 (GRCm39) probably null Het
Ranbp2 T G 10: 58,316,376 (GRCm39) S2365R probably damaging Het
Sgce G A 6: 4,694,187 (GRCm39) probably benign Het
Slc25a34 A G 4: 141,348,753 (GRCm39) V237A probably benign Het
Slc39a2 A T 14: 52,131,329 (GRCm39) T25S probably benign Het
Smarca4 T C 9: 21,550,535 (GRCm39) C423R probably damaging Het
Stt3b G A 9: 115,080,920 (GRCm39) probably benign Het
Tbl1xr1 A T 3: 22,257,327 (GRCm39) I397F probably damaging Het
Tie1 A G 4: 118,343,591 (GRCm39) V117A probably damaging Het
Tmc3 T C 7: 83,271,952 (GRCm39) F1035L probably benign Het
Trhde T A 10: 114,248,366 (GRCm39) K944N probably damaging Het
Washc4 T A 10: 83,415,414 (GRCm39) N801K probably damaging Het
Xylt2 A G 11: 94,558,588 (GRCm39) Y523H possibly damaging Het
Znfx1 T C 2: 166,902,000 (GRCm39) R5G probably damaging Het
Other mutations in Vmn1r54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01912:Vmn1r54 APN 6 90,246,442 (GRCm39) missense probably damaging 1.00
IGL02535:Vmn1r54 APN 6 90,246,260 (GRCm39) missense possibly damaging 0.78
IGL03083:Vmn1r54 APN 6 90,246,854 (GRCm39) missense possibly damaging 0.82
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 2015-04-16