Incidental Mutation 'IGL03124:Vmn1r57'
ID410080
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r57
Ensembl Gene ENSMUSG00000091652
Gene Namevomeronasal 1 receptor 57
SynonymsGm7519
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL03124
Quality Score
Status
Chromosome7
Chromosomal Location5218493-5221736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5221022 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 182 (H182L)
Ref Sequence ENSEMBL: ENSMUSP00000153848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170780] [ENSMUST00000227798] [ENSMUST00000228062]
Predicted Effect possibly damaging
Transcript: ENSMUST00000170780
AA Change: H182L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131917
Gene: ENSMUSG00000091652
AA Change: H182L

DomainStartEndE-ValueType
Pfam:TAS2R 1 290 1.7e-12 PFAM
Pfam:7tm_1 20 279 1.8e-6 PFAM
Pfam:V1R 32 289 1.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000227798
AA Change: H182L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227864
Predicted Effect possibly damaging
Transcript: ENSMUST00000228062
AA Change: H182L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T C 4: 41,507,287 N170D possibly damaging Het
1700018B08Rik C A 8: 121,541,710 probably benign Het
4931414P19Rik A G 14: 54,595,139 V193A probably benign Het
Acap3 T C 4: 155,905,033 S645P probably benign Het
Alms1 A G 6: 85,678,419 I3316V probably benign Het
Apc T G 18: 34,299,985 H424Q probably damaging Het
BC003331 A G 1: 150,386,425 V88A probably benign Het
Camsap2 A T 1: 136,274,799 probably null Het
Car13 C T 3: 14,656,940 P182L possibly damaging Het
Ccdc87 T G 19: 4,841,054 S525A probably damaging Het
Ces1f T C 8: 93,275,384 N39D probably benign Het
Cyp2j13 C A 4: 96,061,922 A281S possibly damaging Het
Cyp4f15 G A 17: 32,685,812 probably null Het
Fam208b A T 13: 3,574,704 Y1749N probably benign Het
Fat4 C A 3: 38,981,552 R3118S possibly damaging Het
Glg1 C T 8: 111,200,171 V171M probably damaging Het
Hivep1 G T 13: 42,158,904 G1540V possibly damaging Het
Ighm T C 12: 113,421,638 D234G unknown Het
Igsf10 T C 3: 59,319,665 T2196A probably benign Het
Kctd19 T A 8: 105,387,070 Q657L possibly damaging Het
Klhl40 T A 9: 121,780,685 I512N probably damaging Het
Lima1 A T 15: 99,796,734 probably benign Het
Map2k4 A C 11: 65,690,791 I365S probably damaging Het
Mast4 T A 13: 102,738,245 K1346N probably damaging Het
Met T A 6: 17,492,078 F280I probably benign Het
Ncapg A G 5: 45,671,209 T101A probably benign Het
Nup214 T C 2: 31,996,440 F605L probably benign Het
Olfr291 T A 7: 84,856,723 M118K probably damaging Het
Olfr639 G T 7: 104,011,794 Q303K probably benign Het
Olfr873 T A 9: 20,301,163 M322K probably benign Het
Pck2 C T 14: 55,545,333 T373I probably damaging Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pecr A C 1: 72,277,340 S69A probably benign Het
Pitpnb A G 5: 111,330,830 E6G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plbd2 A T 5: 120,493,077 F212I possibly damaging Het
Rfk T A 19: 17,398,595 H84Q possibly damaging Het
Scp2 T A 4: 108,063,906 I36F probably damaging Het
Slc9a4 A G 1: 40,580,735 T74A probably damaging Het
St6galnac1 G A 11: 116,775,299 A35V probably benign Het
Tmem8 G A 17: 26,116,834 R65Q probably damaging Het
Trav17 T C 14: 53,806,649 V4A probably benign Het
Vwa8 A T 14: 79,058,815 probably benign Het
Zgpat A G 2: 181,366,180 Y170C probably benign Het
Other mutations in Vmn1r57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01770:Vmn1r57 APN 7 5220668 missense possibly damaging 0.61
R1779:Vmn1r57 UTSW 7 5220577 missense possibly damaging 0.89
R3025:Vmn1r57 UTSW 7 5220715 nonsense probably null
R3917:Vmn1r57 UTSW 7 5220631 missense probably damaging 1.00
R4093:Vmn1r57 UTSW 7 5220857 missense possibly damaging 0.80
R4552:Vmn1r57 UTSW 7 5220668 missense possibly damaging 0.61
R4628:Vmn1r57 UTSW 7 5220973 missense probably damaging 1.00
R5186:Vmn1r57 UTSW 7 5221108 missense probably benign 0.08
R5290:Vmn1r57 UTSW 7 5221320 missense probably damaging 1.00
R5559:Vmn1r57 UTSW 7 5220899 missense probably damaging 1.00
R6372:Vmn1r57 UTSW 7 5220827 missense possibly damaging 0.61
R7105:Vmn1r57 UTSW 7 5220500 missense probably damaging 1.00
R7220:Vmn1r57 UTSW 7 5220560 missense probably null 1.00
R7835:Vmn1r57 UTSW 7 5221139 missense probably benign 0.44
R7872:Vmn1r57 UTSW 7 5220614 missense possibly damaging 0.48
R7918:Vmn1r57 UTSW 7 5221139 missense probably benign 0.44
R7955:Vmn1r57 UTSW 7 5220614 missense possibly damaging 0.48
X0064:Vmn1r57 UTSW 7 5220761 missense probably damaging 1.00
Posted On2016-08-02