Incidental Mutation 'IGL01721:Vmn1r52'
ID 105103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r52
Ensembl Gene ENSMUSG00000060816
Gene Name vomeronasal 1 receptor 52
Synonyms V1ra7, VN3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01721
Quality Score
Status
Chromosome 6
Chromosomal Location 90155698-90156627 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90155905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 70 (T70A)
Ref Sequence ENSEMBL: ENSMUSP00000154275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079832] [ENSMUST00000226520] [ENSMUST00000227100] [ENSMUST00000227578] [ENSMUST00000227893] [ENSMUST00000228385] [ENSMUST00000228394] [ENSMUST00000228665]
AlphaFold Q9EP79
Predicted Effect probably benign
Transcript: ENSMUST00000079832
AA Change: T70A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078760
Gene: ENSMUSG00000060816
AA Change: T70A

DomainStartEndE-ValueType
Pfam:V1R 38 302 1e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204789
Predicted Effect probably benign
Transcript: ENSMUST00000226520
AA Change: T70A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227100
Predicted Effect probably benign
Transcript: ENSMUST00000227578
Predicted Effect probably benign
Transcript: ENSMUST00000227893
AA Change: T70A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228385
Predicted Effect probably benign
Transcript: ENSMUST00000228394
AA Change: T70A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228665
AA Change: T70A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,023,453 (GRCm39) M51V possibly damaging Het
Acad8 A G 9: 26,903,563 (GRCm39) probably benign Het
Atp2a2 A G 5: 122,638,855 (GRCm39) V53A possibly damaging Het
Bicra T C 7: 15,722,624 (GRCm39) T298A probably benign Het
Ccdc185 C T 1: 182,576,543 (GRCm39) E49K possibly damaging Het
Cfhr2 A G 1: 139,741,352 (GRCm39) S208P probably benign Het
Chd1 T C 17: 15,990,430 (GRCm39) Y1661H probably damaging Het
Cntnap5a A G 1: 116,085,367 (GRCm39) H435R probably benign Het
Cog8 A G 8: 107,780,697 (GRCm39) V187A probably benign Het
Col24a1 A G 3: 145,244,322 (GRCm39) H1532R probably benign Het
Dpp6 A G 5: 27,836,518 (GRCm39) Y336C probably damaging Het
Drosha T A 15: 12,846,198 (GRCm39) Y444* probably null Het
Egf A T 3: 129,491,371 (GRCm39) C374* probably null Het
Eif2b3 C T 4: 116,916,001 (GRCm39) H203Y probably damaging Het
Erbb4 A G 1: 68,293,722 (GRCm39) V723A possibly damaging Het
Fbxo21 T C 5: 118,126,855 (GRCm39) I202T probably benign Het
Gbp6 T C 5: 105,422,073 (GRCm39) M544V probably benign Het
Gm10750 T C 2: 148,857,964 (GRCm39) T96A unknown Het
Gm8232 A T 14: 44,674,640 (GRCm39) probably null Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Gsdma3 T C 11: 98,528,782 (GRCm39) V412A possibly damaging Het
Hs6st1 A T 1: 36,108,016 (GRCm39) H93L probably damaging Het
Hsf2 G A 10: 57,372,277 (GRCm39) E77K probably benign Het
Ing3 T A 6: 21,968,879 (GRCm39) probably benign Het
Ints6 T C 14: 62,951,188 (GRCm39) I280M probably damaging Het
Kazn C A 4: 141,886,354 (GRCm39) probably null Het
Klhl20 T C 1: 160,923,157 (GRCm39) Y13C probably damaging Het
Krtap26-1 G A 16: 88,444,060 (GRCm39) P187L probably damaging Het
Mga T A 2: 119,765,720 (GRCm39) I1329K probably damaging Het
Mindy4 A G 6: 55,200,984 (GRCm39) D223G probably damaging Het
Ncor2 T C 5: 125,128,001 (GRCm39) E124G probably damaging Het
Nfat5 G A 8: 108,071,611 (GRCm39) probably null Het
Nkain1 A G 4: 130,532,134 (GRCm38) F184L probably benign Het
Or8k25 T C 2: 86,243,677 (GRCm39) T240A probably damaging Het
Rars1 A T 11: 35,719,491 (GRCm39) F110L probably damaging Het
Rfx6 A C 10: 51,599,173 (GRCm39) K509N probably damaging Het
Serpinb2 T C 1: 107,443,333 (GRCm39) L44P probably damaging Het
Sin3a G A 9: 57,002,609 (GRCm39) R167Q probably damaging Het
Sos2 T A 12: 69,650,641 (GRCm39) T809S probably damaging Het
Stard9 A G 2: 120,533,811 (GRCm39) E3356G probably damaging Het
Other mutations in Vmn1r52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02102:Vmn1r52 APN 6 90,156,189 (GRCm39) missense possibly damaging 0.92
IGL02583:Vmn1r52 APN 6 90,156,126 (GRCm39) nonsense probably null
IGL02938:Vmn1r52 APN 6 90,156,295 (GRCm39) missense possibly damaging 0.58
R0233:Vmn1r52 UTSW 6 90,156,593 (GRCm39) missense possibly damaging 0.96
R0233:Vmn1r52 UTSW 6 90,156,593 (GRCm39) missense possibly damaging 0.96
R0904:Vmn1r52 UTSW 6 90,156,446 (GRCm39) missense probably damaging 0.98
R2190:Vmn1r52 UTSW 6 90,156,151 (GRCm39) missense probably benign 0.12
R4184:Vmn1r52 UTSW 6 90,156,219 (GRCm39) missense probably benign 0.00
R4906:Vmn1r52 UTSW 6 90,155,930 (GRCm39) missense possibly damaging 0.63
R5475:Vmn1r52 UTSW 6 90,155,894 (GRCm39) missense probably benign 0.04
R5689:Vmn1r52 UTSW 6 90,156,232 (GRCm39) missense possibly damaging 0.95
R5740:Vmn1r52 UTSW 6 90,156,176 (GRCm39) missense probably benign 0.02
R7263:Vmn1r52 UTSW 6 90,156,535 (GRCm39) missense probably benign 0.00
R7337:Vmn1r52 UTSW 6 90,156,605 (GRCm39) missense probably benign 0.31
R7374:Vmn1r52 UTSW 6 90,156,118 (GRCm39) missense probably benign 0.08
R8161:Vmn1r52 UTSW 6 90,156,239 (GRCm39) missense possibly damaging 0.73
R8699:Vmn1r52 UTSW 6 90,155,742 (GRCm39) missense probably benign 0.02
R8747:Vmn1r52 UTSW 6 90,156,451 (GRCm39) missense probably benign 0.36
R9721:Vmn1r52 UTSW 6 90,156,008 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21