Incidental Mutation 'IGL01293:Vmn1r49'
ID 72964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r49
Ensembl Gene ENSMUSG00000095932
Gene Name vomeronasal 1, receptor 49
Synonyms V1rb2, VRi2, V1r5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL01293
Quality Score
Status
Chromosome 6
Chromosomal Location 90049068-90050000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90049394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 203 (S203T)
Ref Sequence ENSEMBL: ENSMUSP00000154456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071865] [ENSMUST00000203791] [ENSMUST00000226368]
AlphaFold Q9WUF1
Predicted Effect probably damaging
Transcript: ENSMUST00000071865
AA Change: S203T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071762
Gene: ENSMUSG00000095932
AA Change: S203T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 302 5e-165 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203791
AA Change: S203T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145107
Gene: ENSMUSG00000095932
AA Change: S203T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:V1R 38 302 5e-165 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226368
AA Change: S203T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a non-functional knock-in allele display abnormal patterns of axonal projections in the accessory olfactory bulb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Vmn1r49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03230:Vmn1r49 APN 6 90,049,650 (GRCm39) missense probably damaging 1.00
IGL03308:Vmn1r49 APN 6 90,049,341 (GRCm39) missense possibly damaging 0.67
R0517:Vmn1r49 UTSW 6 90,049,720 (GRCm39) missense probably damaging 0.98
R0638:Vmn1r49 UTSW 6 90,049,648 (GRCm39) missense possibly damaging 0.95
R1498:Vmn1r49 UTSW 6 90,049,298 (GRCm39) missense probably damaging 1.00
R1649:Vmn1r49 UTSW 6 90,049,623 (GRCm39) missense possibly damaging 0.66
R1668:Vmn1r49 UTSW 6 90,049,764 (GRCm39) missense probably benign 0.07
R1816:Vmn1r49 UTSW 6 90,049,785 (GRCm39) missense possibly damaging 0.93
R2071:Vmn1r49 UTSW 6 90,049,184 (GRCm39) missense probably benign 0.00
R2155:Vmn1r49 UTSW 6 90,049,441 (GRCm39) missense probably damaging 0.99
R2274:Vmn1r49 UTSW 6 90,049,126 (GRCm39) missense probably benign 0.23
R4222:Vmn1r49 UTSW 6 90,049,228 (GRCm39) missense probably benign 0.06
R4614:Vmn1r49 UTSW 6 90,049,534 (GRCm39) missense probably benign 0.00
R4797:Vmn1r49 UTSW 6 90,049,612 (GRCm39) missense probably benign 0.13
R4978:Vmn1r49 UTSW 6 90,049,872 (GRCm39) missense probably benign 0.30
R5227:Vmn1r49 UTSW 6 90,049,753 (GRCm39) missense probably benign 0.00
R5959:Vmn1r49 UTSW 6 90,049,786 (GRCm39) missense probably damaging 1.00
R6741:Vmn1r49 UTSW 6 90,049,195 (GRCm39) missense probably benign 0.19
R6744:Vmn1r49 UTSW 6 90,049,184 (GRCm39) missense probably benign 0.00
R7173:Vmn1r49 UTSW 6 90,049,250 (GRCm39) missense possibly damaging 0.96
R7457:Vmn1r49 UTSW 6 90,049,534 (GRCm39) missense probably benign 0.00
R7573:Vmn1r49 UTSW 6 90,049,843 (GRCm39) missense probably benign 0.06
R8360:Vmn1r49 UTSW 6 90,049,991 (GRCm39) missense probably benign 0.06
R8399:Vmn1r49 UTSW 6 90,049,689 (GRCm39) nonsense probably null
R9560:Vmn1r49 UTSW 6 90,049,382 (GRCm39) missense probably benign 0.03
Posted On 2013-10-07