Incidental Mutation 'IGL01912:Vmn1r54'
ID179831
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r54
Ensembl Gene ENSMUSG00000047203
Gene Namevomeronasal 1 receptor 54
SynonymsV1ra9, VN7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01912
Quality Score
Status
Chromosome6
Chromosomal Location90246300-90271213 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90269460 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 119 (S119P)
Ref Sequence ENSEMBL: ENSMUSP00000154354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058039] [ENSMUST00000226921]
Predicted Effect probably damaging
Transcript: ENSMUST00000058039
AA Change: S119P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063052
Gene: ENSMUSG00000047203
AA Change: S119P

DomainStartEndE-ValueType
Pfam:TAS2R 11 307 1.2e-11 PFAM
Pfam:V1R 38 301 5.5e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226921
AA Change: S119P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 46,120,510 D860E probably damaging Het
Actl11 C A 9: 107,929,645 P389Q probably damaging Het
Bsg G T 10: 79,710,140 G103W probably null Het
Camk2d T A 3: 126,810,632 probably null Het
Clcn7 T C 17: 25,153,009 probably benign Het
Dctd C T 8: 48,111,662 probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Esyt2 T C 12: 116,339,609 I289T probably damaging Het
Exoc6b A C 6: 84,625,174 C753G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3633 T C 14: 42,640,786 probably benign Het
Hrh3 A T 2: 180,101,376 V153D probably damaging Het
Krt77 T A 15: 101,863,851 probably benign Het
Nat3 T A 8: 67,547,746 C92* probably null Het
Nckap1l T A 15: 103,474,146 L525M probably benign Het
Nrp2 T A 1: 62,771,737 C646S probably damaging Het
Olfr512 T C 7: 108,714,258 Y290H possibly damaging Het
Olfr659 T C 7: 104,671,233 I177T possibly damaging Het
Olfr698 T A 7: 106,752,992 Y132F probably damaging Het
Orc1 T C 4: 108,590,744 Y63H probably damaging Het
Otud4 T C 8: 79,673,837 V1059A probably benign Het
Ptprm A G 17: 67,046,118 V235A probably benign Het
Rab3ip G T 10: 116,907,092 Q443K probably benign Het
Tnc C A 4: 64,008,740 D850Y probably damaging Het
Ubxn2b T A 4: 6,203,767 probably null Het
Vmn1r233 T A 17: 20,994,205 Y161F probably benign Het
Other mutations in Vmn1r54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02421:Vmn1r54 APN 6 90269151 missense probably benign 0.01
IGL02535:Vmn1r54 APN 6 90269278 missense possibly damaging 0.78
IGL03083:Vmn1r54 APN 6 90269872 missense possibly damaging 0.82
R0646:Vmn1r54 UTSW 6 90269653 missense probably benign 0.00
R2047:Vmn1r54 UTSW 6 90269988 missense probably damaging 1.00
R4409:Vmn1r54 UTSW 6 90269882 nonsense probably null
R4467:Vmn1r54 UTSW 6 90269271 missense probably damaging 1.00
R4812:Vmn1r54 UTSW 6 90269325 missense probably benign 0.22
R5042:Vmn1r54 UTSW 6 90269440 missense possibly damaging 0.53
R5555:Vmn1r54 UTSW 6 90269365 missense probably benign 0.02
R6183:Vmn1r54 UTSW 6 90269290 missense possibly damaging 0.61
R6393:Vmn1r54 UTSW 6 90269322 missense probably benign 0.45
R7216:Vmn1r54 UTSW 6 90269665 missense probably damaging 1.00
R7480:Vmn1r54 UTSW 6 90269178 missense possibly damaging 0.58
R8413:Vmn1r54 UTSW 6 90269431 missense probably damaging 1.00
Posted On2014-05-07