Incidental Mutation 'IGL03339:Vmn1r219'
ID 417133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r219
Ensembl Gene ENSMUSG00000061376
Gene Name vomeronasal 1 receptor 219
Synonyms V1rh13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL03339
Quality Score
Status
Chromosome 13
Chromosomal Location 23346813-23347751 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 23347580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 256 (S256R)
Ref Sequence ENSEMBL: ENSMUSP00000154240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076180] [ENSMUST00000226845] [ENSMUST00000227388] [ENSMUST00000228113] [ENSMUST00000228666]
AlphaFold Q8R271
Predicted Effect possibly damaging
Transcript: ENSMUST00000076180
AA Change: S256R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075537
Gene: ENSMUSG00000061376
AA Change: S256R

DomainStartEndE-ValueType
Pfam:TAS2R 2 301 3.4e-7 PFAM
Pfam:V1R 33 297 3e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000226845
AA Change: S256R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227388
AA Change: S256R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228113
AA Change: S256R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228666
AA Change: S256R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Other mutations in Vmn1r219
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02517:Vmn1r219 APN 13 23,347,266 (GRCm39) missense probably benign 0.01
R0662:Vmn1r219 UTSW 13 23,347,623 (GRCm39) missense possibly damaging 0.51
R1144:Vmn1r219 UTSW 13 23,347,383 (GRCm39) missense probably damaging 1.00
R4036:Vmn1r219 UTSW 13 23,347,272 (GRCm39) missense probably benign 0.00
R4762:Vmn1r219 UTSW 13 23,346,999 (GRCm39) nonsense probably null
R5311:Vmn1r219 UTSW 13 23,347,063 (GRCm39) missense probably damaging 1.00
R6488:Vmn1r219 UTSW 13 23,347,135 (GRCm39) missense probably benign 0.02
R7157:Vmn1r219 UTSW 13 23,347,525 (GRCm39) missense probably damaging 1.00
R7305:Vmn1r219 UTSW 13 23,347,314 (GRCm39) missense probably benign
R7875:Vmn1r219 UTSW 13 23,347,363 (GRCm39) missense possibly damaging 0.58
R8753:Vmn1r219 UTSW 13 23,347,191 (GRCm39) missense probably damaging 1.00
R9290:Vmn1r219 UTSW 13 23,347,399 (GRCm39) missense probably damaging 1.00
R9345:Vmn1r219 UTSW 13 23,346,769 (GRCm39) start gained probably benign
R9353:Vmn1r219 UTSW 13 23,346,902 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02