Incidental Mutation 'IGL03169:Vmn1r40'
ID 411746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r40
Ensembl Gene ENSMUSG00000096051
Gene Name vomeronasal 1 receptor 40
Synonyms V1rb7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL03169
Quality Score
Status
Chromosome 6
Chromosomal Location 89688243-89692117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89692005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 274 (Q274L)
Ref Sequence ENSEMBL: ENSMUSP00000154581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075158] [ENSMUST00000226925] [ENSMUST00000227669] [ENSMUST00000228485] [ENSMUST00000228642]
AlphaFold Q9EQ46
Predicted Effect probably damaging
Transcript: ENSMUST00000075158
AA Change: Q274L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074655
Gene: ENSMUSG00000096051
AA Change: Q274L

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 302 3.4e-143 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226925
AA Change: Q274L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000227669
AA Change: Q91L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000228485
AA Change: Q91L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000228642
AA Change: Q274L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 84,658,624 (GRCm39) I548F probably damaging Het
Adgrv1 T A 13: 81,652,019 (GRCm39) Q2995L probably damaging Het
Capn9 T C 8: 125,332,616 (GRCm39) I485T probably damaging Het
Ccdc17 T A 4: 116,454,957 (GRCm39) I197N probably damaging Het
Chl1 T A 6: 103,642,928 (GRCm39) L222Q probably damaging Het
Ctla4 T C 1: 60,953,764 (GRCm39) probably benign Het
Cyp2d12 T C 15: 82,443,492 (GRCm39) S485P probably benign Het
Ddx50 A T 10: 62,457,166 (GRCm39) probably null Het
Dlgap4 C A 2: 156,552,938 (GRCm39) probably null Het
Dpysl4 G A 7: 138,679,826 (GRCm39) probably null Het
Erbin T C 13: 103,977,740 (GRCm39) M606V possibly damaging Het
Fat4 T G 3: 39,011,547 (GRCm39) S2216A probably benign Het
Frem2 T C 3: 53,429,713 (GRCm39) N2779S probably benign Het
Fut1 T C 7: 45,268,457 (GRCm39) V82A probably benign Het
Gnb1l C T 16: 18,359,205 (GRCm39) A2V probably damaging Het
Hdac1 C T 4: 129,412,624 (GRCm39) E327K probably null Het
Hdlbp A G 1: 93,344,309 (GRCm39) V819A possibly damaging Het
Ift122 T C 6: 115,882,922 (GRCm39) probably benign Het
Iqgap2 T C 13: 95,867,785 (GRCm39) probably null Het
Kntc1 T C 5: 123,913,884 (GRCm39) V613A possibly damaging Het
Lamb1 T C 12: 31,373,645 (GRCm39) V1458A probably damaging Het
Lef1 A G 3: 130,988,312 (GRCm39) K265R probably damaging Het
Lrp2 T C 2: 69,353,538 (GRCm39) D574G probably damaging Het
Mterf2 C T 10: 84,956,324 (GRCm39) R100H probably benign Het
Nr1d2 C T 14: 18,216,703 (GRCm38) R155Q probably damaging Het
Obscn T C 11: 58,964,122 (GRCm39) T3304A probably damaging Het
Or2j3 G T 17: 38,615,992 (GRCm39) S120Y probably damaging Het
Or4a78 A G 2: 89,497,831 (GRCm39) I133T possibly damaging Het
Os9 G A 10: 126,934,463 (GRCm39) T391M probably benign Het
Parp6 C A 9: 59,557,300 (GRCm39) Y131* probably null Het
Plxdc1 T C 11: 97,823,146 (GRCm39) E358G possibly damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Ptprc A T 1: 138,041,357 (GRCm39) S167R probably benign Het
Rad54l2 T C 9: 106,596,263 (GRCm39) D225G probably benign Het
Rgs7 T C 1: 175,098,401 (GRCm39) I53V possibly damaging Het
Rpa1 T C 11: 75,192,183 (GRCm39) D607G probably damaging Het
Shisa5 T A 9: 108,885,560 (GRCm39) H213Q probably damaging Het
Syncrip A G 9: 88,338,496 (GRCm39) probably benign Het
Taf4b T G 18: 14,954,592 (GRCm39) V556G probably damaging Het
Tgif1 A C 17: 71,151,836 (GRCm39) S258R possibly damaging Het
Tmem106a T C 11: 101,481,284 (GRCm39) probably benign Het
Vmn1r113 A T 7: 20,522,012 (GRCm39) H268L probably benign Het
Wdr70 A C 15: 7,913,821 (GRCm39) I609M possibly damaging Het
Wdr91 G A 6: 34,882,426 (GRCm39) S241L possibly damaging Het
Zfyve9 T C 4: 108,553,022 (GRCm39) Y713C probably damaging Het
Other mutations in Vmn1r40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Vmn1r40 APN 6 89,691,578 (GRCm39) missense probably damaging 0.99
IGL01432:Vmn1r40 APN 6 89,691,201 (GRCm39) missense probably benign
IGL01777:Vmn1r40 APN 6 89,691,204 (GRCm39) missense probably benign 0.38
IGL01834:Vmn1r40 APN 6 89,691,554 (GRCm39) missense possibly damaging 0.62
IGL01908:Vmn1r40 APN 6 89,691,285 (GRCm39) missense probably benign 0.00
IGL01908:Vmn1r40 APN 6 89,691,291 (GRCm39) missense probably damaging 0.97
IGL01999:Vmn1r40 APN 6 89,691,948 (GRCm39) missense probably benign 0.00
IGL02728:Vmn1r40 APN 6 89,691,998 (GRCm39) missense probably benign 0.05
R0448:Vmn1r40 UTSW 6 89,691,642 (GRCm39) missense probably benign 0.23
R0971:Vmn1r40 UTSW 6 89,691,272 (GRCm39) missense probably benign 0.00
R1208:Vmn1r40 UTSW 6 89,691,326 (GRCm39) missense probably benign 0.13
R1208:Vmn1r40 UTSW 6 89,691,326 (GRCm39) missense probably benign 0.13
R1448:Vmn1r40 UTSW 6 89,691,558 (GRCm39) missense probably damaging 1.00
R1739:Vmn1r40 UTSW 6 89,691,297 (GRCm39) missense probably benign 0.00
R2170:Vmn1r40 UTSW 6 89,691,957 (GRCm39) missense probably benign 0.11
R3151:Vmn1r40 UTSW 6 89,691,548 (GRCm39) missense probably benign 0.01
R3804:Vmn1r40 UTSW 6 89,691,991 (GRCm39) missense probably benign 0.29
R5098:Vmn1r40 UTSW 6 89,691,930 (GRCm39) missense probably damaging 1.00
R6015:Vmn1r40 UTSW 6 89,691,588 (GRCm39) missense probably damaging 1.00
R7216:Vmn1r40 UTSW 6 89,691,606 (GRCm39) missense not run
R7555:Vmn1r40 UTSW 6 89,692,026 (GRCm39) missense probably damaging 1.00
R7591:Vmn1r40 UTSW 6 89,691,755 (GRCm39) missense probably benign 0.00
R9056:Vmn1r40 UTSW 6 89,691,198 (GRCm39) missense probably benign 0.14
R9286:Vmn1r40 UTSW 6 89,692,079 (GRCm39) missense probably benign 0.03
R9344:Vmn1r40 UTSW 6 89,691,235 (GRCm39) missense probably benign 0.00
R9449:Vmn1r40 UTSW 6 89,691,854 (GRCm39) missense probably benign 0.39
Posted On 2016-08-02