Incidental Mutation 'IGL03083:Vmn1r54'
ID417941
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: 0.058) question?
Stock #IGL03083
Quality Score
Status
Chromosome6
Chromosomal Location90246300-90271213 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90269872 bp
ZygosityHeterozygous
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]
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: 122,138,612 probably null Het
Acadsb A C 7: 131,441,193 probably benign Het
Ankk1 A G 9: 49,421,866 L106P probably benign Het
Ankrd24 G A 10: 81,638,649 A72T probably benign Het
Ankrd35 A T 3: 96,684,801 Q801L probably damaging Het
Avil A G 10: 127,016,324 I659M probably benign Het
Ccnc A G 4: 21,742,683 D170G possibly damaging Het
Cfap57 T C 4: 118,584,739 K711E probably damaging Het
Dctn1 T C 6: 83,197,484 probably benign Het
Dpp6 T C 5: 27,709,550 probably null Het
Efhb A T 17: 53,399,059 W817R probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fer1l4 A G 2: 156,039,366 probably benign Het
Fgf8 T C 19: 45,737,228 N137S probably damaging Het
Fndc3b T C 3: 27,467,427 D533G probably benign Het
Fshb A G 2: 107,057,467 V69A probably benign Het
Galnt7 A T 8: 57,526,189 H633Q probably damaging Het
Gm5458 A G 14: 19,602,383 probably null Het
Hfe2 T A 3: 96,528,606 D393E probably benign Het
Hpca A C 4: 129,118,526 F72L probably damaging Het
Inpp5d A T 1: 87,711,141 D552V probably damaging Het
Lepr C T 4: 101,814,679 Q967* probably null Het
Lgr5 A G 10: 115,453,032 V497A probably benign Het
Matr3 A G 18: 35,572,418 K132R probably damaging Het
Mib1 T G 18: 10,752,029 probably null Het
Mios T A 6: 8,215,156 N117K probably damaging Het
Nab1 T C 1: 52,490,270 D156G probably benign Het
Nfxl1 C T 5: 72,540,662 probably benign Het
Nutm2 G A 13: 50,467,444 G15E probably damaging Het
Oca2 A G 7: 56,295,484 H280R probably benign Het
Olfr118 C A 17: 37,672,660 C212* probably null Het
Olfr464 T C 11: 87,914,088 I273V probably benign Het
P2ry1 A G 3: 61,004,315 T292A probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pidd1 A G 7: 141,440,456 probably null Het
Pitpnm2 T C 5: 124,133,382 E376G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2a T C 11: 69,745,046 probably null Het
Sbno2 A T 10: 80,057,534 M1311K probably damaging Het
Senp7 A G 16: 56,171,865 N701S probably benign Het
Sirpa T A 2: 129,629,928 I211N probably damaging Het
Slc9a4 A G 1: 40,629,402 E735G probably benign Het
Sorbs1 C T 19: 40,314,376 M790I probably damaging Het
Sult1e1 T A 5: 87,590,124 M33L probably benign Het
Tapbpl G A 6: 125,228,228 probably null Het
Top1 A G 2: 160,703,578 T289A probably damaging Het
Trim58 T A 11: 58,651,390 M392K probably benign Het
Uaca A G 9: 60,863,663 I371V probably benign Het
Wdr19 T C 5: 65,230,976 I668T probably benign Het
Other mutations in Vmn1r54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01912:Vmn1r54 APN 6 90269460 missense probably damaging 1.00
IGL02421:Vmn1r54 APN 6 90269151 missense probably benign 0.01
IGL02535:Vmn1r54 APN 6 90269278 missense possibly damaging 0.78
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
Posted On2016-08-02