Incidental Mutation 'IGL01072:Vmn1r214'
ID52533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r214
Ensembl Gene ENSMUSG00000061829
Gene Namevomeronasal 1 receptor 214
SynonymsV1rh5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01072
Quality Score
Status
Chromosome13
Chromosomal Location23030418-23037957 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23035130 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 265 (Y265H)
Ref Sequence ENSEMBL: ENSMUSP00000153823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074252] [ENSMUST00000227236] [ENSMUST00000227652]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074252
AA Change: Y265H

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073868
Gene: ENSMUSG00000061829
AA Change: Y265H

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
Pfam:TAS2R 42 346 7.5e-9 PFAM
Pfam:V1R 75 337 5.3e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000227236
AA Change: Y265H

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227652
AA Change: Y265H

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc65 A T 15: 98,708,396 M1L unknown Het
Cyp3a44 T C 5: 145,791,628 D262G probably benign Het
Dmbt1 C T 7: 131,085,368 probably benign Het
Dnmt3l A G 10: 78,052,771 N169S probably benign Het
Fam129b T C 2: 32,912,415 probably benign Het
Fbxw26 A T 9: 109,723,837 F290I probably damaging Het
Foxj3 A G 4: 119,610,029 M190V probably benign Het
Gm7275 T C 16: 48,074,156 noncoding transcript Het
Ly75 T A 2: 60,354,496 D438V probably damaging Het
Lzts3 T C 2: 130,635,445 E475G probably damaging Het
Mon2 A T 10: 123,010,539 Y1375* probably null Het
Ndufc2 T A 7: 97,400,283 V32D probably damaging Het
Nf2 A C 11: 4,789,713 L431R probably null Het
Ptpn9 C T 9: 57,036,703 T287I possibly damaging Het
Rictor A G 15: 6,789,562 D1422G probably damaging Het
Rpp40 C A 13: 35,902,034 G115C probably damaging Het
Rps6ka5 A G 12: 100,573,898 V522A probably benign Het
Scgb1b24 A T 7: 33,744,009 D31V probably damaging Het
Trrap C A 5: 144,784,255 probably benign Het
Other mutations in Vmn1r214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Vmn1r214 APN 13 23034492 missense probably benign 0.00
IGL02000:Vmn1r214 APN 13 23035100 missense possibly damaging 0.90
R0115:Vmn1r214 UTSW 13 23035294 nonsense probably null
R0468:Vmn1r214 UTSW 13 23035253 missense probably benign 0.04
R0481:Vmn1r214 UTSW 13 23035294 nonsense probably null
R0574:Vmn1r214 UTSW 13 23034493 missense probably benign 0.19
R0686:Vmn1r214 UTSW 13 23034792 missense probably damaging 1.00
R1931:Vmn1r214 UTSW 13 23035324 missense possibly damaging 0.46
R3893:Vmn1r214 UTSW 13 23034641 missense probably benign 0.00
R4013:Vmn1r214 UTSW 13 23035350 missense probably benign 0.21
R4014:Vmn1r214 UTSW 13 23035350 missense probably benign 0.21
R4015:Vmn1r214 UTSW 13 23035350 missense probably benign 0.21
R4670:Vmn1r214 UTSW 13 23034971 missense probably benign 0.01
R5091:Vmn1r214 UTSW 13 23035401 missense possibly damaging 0.46
R5817:Vmn1r214 UTSW 13 23035321 missense probably damaging 0.98
R6504:Vmn1r214 UTSW 13 23035440 makesense probably null
R7096:Vmn1r214 UTSW 13 23035026 missense probably damaging 1.00
R7141:Vmn1r214 UTSW 13 23034669 missense probably benign 0.41
R7293:Vmn1r214 UTSW 13 23034669 missense probably benign 0.41
R7759:Vmn1r214 UTSW 13 23034461 missense not run
X0002:Vmn1r214 UTSW 13 23034801 missense probably damaging 0.98
Z1176:Vmn1r214 UTSW 13 23034495 missense possibly damaging 0.87
Posted On2013-06-21