Incidental Mutation 'R1208:Vmn1r40'
ID 100518
Institutional Source Beutler Lab
Gene Symbol Vmn1r40
Ensembl Gene ENSMUSG00000096051
Gene Name vomeronasal 1 receptor 40
Synonyms V1rb7
MMRRC Submission 039277-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1208 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 89688243-89692117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89691326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 48 (I48V)
Ref Sequence ENSEMBL: ENSMUSP00000154581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075158] [ENSMUST00000226925] [ENSMUST00000227669] [ENSMUST00000228485] [ENSMUST00000228642]
AlphaFold Q9EQ46
Predicted Effect probably benign
Transcript: ENSMUST00000075158
AA Change: I48V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000074655
Gene: ENSMUSG00000096051
AA Change: I48V

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 302 3.4e-143 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226925
AA Change: I48V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000227669
Predicted Effect probably benign
Transcript: ENSMUST00000228485
Predicted Effect probably benign
Transcript: ENSMUST00000228642
AA Change: I48V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.8%
  • 10x: 91.7%
  • 20x: 74.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 C T 3: 59,772,715 (GRCm39) P73L probably benign Het
Atp13a3 A T 16: 30,173,065 (GRCm39) C271S probably benign Het
Ccl25 T A 8: 4,407,631 (GRCm39) S199T possibly damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cep104 A T 4: 154,069,836 (GRCm39) D270V probably damaging Het
Dnah5 T A 15: 28,327,877 (GRCm39) Y2084N probably damaging Het
Eftud2 A G 11: 102,755,592 (GRCm39) V214A probably benign Het
Epb41l4b C T 4: 57,077,252 (GRCm39) probably null Het
Golgb1 AAGAGAGAGAGAGAGA AAGAGAGAGAGAGA 16: 36,735,567 (GRCm39) probably null Het
Gys2 A G 6: 142,396,193 (GRCm39) probably null Het
Lig4 T C 8: 10,021,062 (GRCm39) E906G probably damaging Het
Mast3 G A 8: 71,240,916 (GRCm39) probably null Het
Mta2 G A 19: 8,928,381 (GRCm39) R560H probably damaging Het
Myom2 T C 8: 15,134,631 (GRCm39) L478P probably damaging Het
Neb A T 2: 52,193,912 (GRCm39) L673* probably null Het
Niban3 A T 8: 72,053,119 (GRCm39) T125S probably damaging Het
Or4c35 G A 2: 89,808,836 (GRCm39) C238Y probably damaging Het
Pdpk1 C A 17: 24,312,583 (GRCm39) probably null Het
Perm1 T C 4: 156,301,459 (GRCm39) M1T probably null Het
Pphln1 T C 15: 93,357,610 (GRCm39) W162R probably damaging Het
Ppp1r13b A G 12: 111,811,339 (GRCm39) V183A probably damaging Het
Recql5 T C 11: 115,783,982 (GRCm39) K951E probably damaging Het
Slc25a25 T C 2: 32,307,437 (GRCm39) E309G probably benign Het
Sycp2 A T 2: 177,998,421 (GRCm39) I1033N possibly damaging Het
Tbpl2 A T 2: 23,984,783 (GRCm39) N120K probably benign Het
Unc5b A T 10: 60,602,771 (GRCm39) L876Q probably damaging Het
Usp9y T C Y: 1,356,282 (GRCm39) T1140A probably benign Het
Zbbx T C 3: 74,945,299 (GRCm39) I708V possibly damaging Het
Zfp318 AGAAGA AGAAGAGGAAGA 17: 46,723,446 (GRCm39) probably benign 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
IGL03169:Vmn1r40 APN 6 89,692,005 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- GTTGGCATTTGTGAACAAGGCCATC -3'
(R):5'- TGCAGAAAACATGCTTGTCCTGGAG -3'

Sequencing Primer
(F):5'- GAAGAGTTTTCTCTTTTCTCCTCAGG -3'
(R):5'- CTTGTCCTGGAGTAACTCAGAG -3'
Posted On 2014-01-15