Incidental Mutation 'IGL03412:Vmn1r50'
ID 421821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r50
Ensembl Gene ENSMUSG00000094553
Gene Name vomeronasal 1 receptor 50
Synonyms V1rb1, VN2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL03412
Quality Score
Status
Chromosome 6
Chromosomal Location 90084257-90085189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90085007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 251 (Y251H)
Ref Sequence ENSEMBL: ENSMUSP00000154560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081706] [ENSMUST00000089417] [ENSMUST00000226577]
AlphaFold Q9EP51
Predicted Effect probably damaging
Transcript: ENSMUST00000081706
AA Change: Y251H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080407
Gene: ENSMUSG00000094553
AA Change: Y251H

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 302 1e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089417
AA Change: Y251H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100705
Gene: ENSMUSG00000094553
AA Change: Y251H

DomainStartEndE-ValueType
Pfam:V1R 39 303 9.8e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226577
AA Change: Y251H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,455,390 (GRCm39) R736* probably null Het
Agpat2 T C 2: 26,483,673 (GRCm39) T255A probably benign Het
Akap3 G A 6: 126,841,688 (GRCm39) M102I probably benign Het
Cd300lb C A 11: 114,819,206 (GRCm39) R5M probably damaging Het
Chrna5 A T 9: 54,911,719 (GRCm39) D69V probably damaging Het
Col9a1 G A 1: 24,249,508 (GRCm39) probably null Het
Dnajb12 A T 10: 59,725,895 (GRCm39) H60L probably benign Het
Dnal1 T A 12: 84,182,441 (GRCm39) M1K probably null Het
Exoc7 C T 11: 116,180,101 (GRCm39) V655M possibly damaging Het
Fastkd3 A G 13: 68,731,840 (GRCm39) R54G probably benign Het
Fbln2 G A 6: 91,248,763 (GRCm39) D1143N probably damaging Het
Flii C T 11: 60,613,466 (GRCm39) V174M probably damaging Het
Gtf2h4 T C 17: 35,979,375 (GRCm39) I388M probably damaging Het
Il20rb A G 9: 100,357,049 (GRCm39) V27A probably benign Het
Kidins220 T C 12: 25,049,344 (GRCm39) S320P probably damaging Het
Kif1b T C 4: 149,359,396 (GRCm39) S114G probably benign Het
Lama3 T C 18: 12,552,239 (GRCm39) V397A probably damaging Het
Man2a2 A T 7: 80,016,746 (GRCm39) V356D probably damaging Het
Mcpt9 T G 14: 56,265,484 (GRCm39) T72P probably damaging Het
Mmd T C 11: 90,148,429 (GRCm39) probably null Het
Mroh2b G A 15: 4,973,854 (GRCm39) R1124Q probably benign Het
Mvp T C 7: 126,592,735 (GRCm39) D392G probably damaging Het
Mycbpap T A 11: 94,398,927 (GRCm39) probably null Het
Myh2 A G 11: 67,080,395 (GRCm39) H1203R probably benign Het
Nbeal1 T A 1: 60,281,726 (GRCm39) C816* probably null Het
Or4a70 T A 2: 89,324,555 (GRCm39) I34F probably benign Het
Or5an6 A T 19: 12,371,743 (GRCm39) T39S probably damaging Het
Pcdh12 C T 18: 38,416,568 (GRCm39) V186M probably benign Het
Pik3c2a C T 7: 116,017,074 (GRCm39) E228K probably benign Het
Plcz1 A C 6: 139,961,823 (GRCm39) Y243D probably damaging Het
Rspo3 T A 10: 29,411,270 (GRCm39) I19F possibly damaging Het
Slc2a12 T C 10: 22,540,868 (GRCm39) L241P probably damaging Het
Slc4a10 G A 2: 62,080,887 (GRCm39) probably benign Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Sorcs2 T C 5: 36,203,848 (GRCm39) D549G probably damaging Het
Srsf12 G A 4: 33,230,929 (GRCm39) R141Q probably damaging Het
Stab1 T G 14: 30,876,364 (GRCm39) E908D probably benign Het
Stat6 A T 10: 127,494,074 (GRCm39) M634L probably benign Het
Tex21 A G 12: 76,291,780 (GRCm39) probably null Het
Tsc2 C A 17: 24,816,042 (GRCm39) R1715L probably damaging Het
Ttll4 A G 1: 74,726,480 (GRCm39) I693V probably benign Het
Vmn1r5 A T 6: 56,962,918 (GRCm39) M198L possibly damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Wdr3 G T 3: 100,059,293 (GRCm39) T342K probably benign Het
Zbtb44 A G 9: 30,964,763 (GRCm39) T58A probably benign Het
Zeb2 A G 2: 44,892,720 (GRCm39) probably benign Het
Zmym2 C T 14: 57,197,176 (GRCm39) Q1315* probably null Het
Zmym6 T C 4: 126,986,731 (GRCm39) I137T probably damaging Het
Other mutations in Vmn1r50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02177:Vmn1r50 APN 6 90,085,139 (GRCm39) missense probably benign
IGL02383:Vmn1r50 APN 6 90,084,461 (GRCm39) missense possibly damaging 0.66
IGL03304:Vmn1r50 APN 6 90,084,625 (GRCm39) missense probably damaging 0.97
R0032:Vmn1r50 UTSW 6 90,084,782 (GRCm39) missense probably damaging 0.98
R0504:Vmn1r50 UTSW 6 90,084,863 (GRCm39) missense probably damaging 1.00
R2191:Vmn1r50 UTSW 6 90,085,121 (GRCm39) missense probably benign 0.09
R3548:Vmn1r50 UTSW 6 90,084,476 (GRCm39) missense probably damaging 1.00
R4668:Vmn1r50 UTSW 6 90,084,513 (GRCm39) missense probably benign 0.44
R4763:Vmn1r50 UTSW 6 90,085,062 (GRCm39) missense probably benign 0.00
R5238:Vmn1r50 UTSW 6 90,084,465 (GRCm39) missense possibly damaging 0.60
R7002:Vmn1r50 UTSW 6 90,084,819 (GRCm39) missense probably benign
R7172:Vmn1r50 UTSW 6 90,084,386 (GRCm39) missense possibly damaging 0.89
R8459:Vmn1r50 UTSW 6 90,084,235 (GRCm39) start gained probably benign
R8478:Vmn1r50 UTSW 6 90,085,071 (GRCm39) missense probably benign 0.07
R8985:Vmn1r50 UTSW 6 90,085,017 (GRCm39) missense probably benign 0.26
R9096:Vmn1r50 UTSW 6 90,085,022 (GRCm39) missense probably benign 0.01
R9097:Vmn1r50 UTSW 6 90,085,022 (GRCm39) missense probably benign 0.01
Z1177:Vmn1r50 UTSW 6 90,084,951 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02