Incidental Mutation 'IGL03339:Vmn1r219'
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ID417133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r219
Ensembl Gene ENSMUSG00000061376
Gene Namevomeronasal 1 receptor 219
SynonymsV1rh13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL03339
Quality Score
Status
Chromosome13
Chromosomal Location23159312-23168154 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 23163410 bp
ZygosityHeterozygous
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]
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: 152,442,456 E323G probably damaging Het
A4gnt T C 9: 99,620,548 S254P probably damaging Het
Actn4 A G 7: 28,901,982 L447P probably damaging Het
Agbl2 C A 2: 90,797,563 S237R probably damaging Het
Apc G A 18: 34,298,474 D309N probably damaging Het
Arhgef3 A G 14: 27,401,857 M492V probably damaging Het
Atp10b T A 11: 43,230,615 M1035K probably null Het
Cfap69 T A 5: 5,586,436 probably benign Het
Ctf1 A G 7: 127,713,994 N24S probably benign Het
Cx3cr1 T A 9: 120,051,437 K300* probably null Het
Ddx25 A T 9: 35,542,003 Y484N probably damaging Het
Eif4g1 A G 16: 20,680,984 E506G possibly damaging Het
Ficd G T 5: 113,738,739 R325L probably benign Het
G6pc2 A G 2: 69,220,895 probably benign Het
Gm11168 C A 9: 3,004,767 P103T probably benign Het
Hbb-y A T 7: 103,852,769 H98Q probably damaging Het
Hmcn1 A G 1: 150,701,969 S2014P probably benign Het
Hoxc5 T C 15: 103,014,136 Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 probably benign Het
Ighg2c A C 12: 113,287,994 V171G unknown Het
Kctd13 A G 7: 126,945,018 D296G probably benign Het
Mfsd2b A C 12: 4,874,335 M1R probably null Het
Nipbl A G 15: 8,350,876 S811P probably benign Het
Olfr118 G A 17: 37,672,557 C178Y possibly damaging Het
Olfr119 G T 17: 37,700,791 M40I probably damaging Het
Olfr1484 T G 19: 13,586,075 M257R probably damaging Het
Olfr569 G A 7: 102,887,782 R124C probably benign Het
Pcolce2 T C 9: 95,678,340 probably benign Het
Pik3c2a G T 7: 116,418,021 T167K possibly damaging Het
Ppp1r18 A G 17: 35,868,046 D271G probably benign Het
Rnf213 T C 11: 119,443,004 I3013T probably damaging Het
Rock1 A T 18: 10,097,493 M765K probably benign Het
Sec16a T C 2: 26,435,933 Y1244C probably benign Het
Taar7d T C 10: 24,027,306 C29R possibly damaging Het
Tmem56 C T 3: 121,228,840 probably benign Het
Ttn A C 2: 76,741,920 F26210V probably damaging Het
Ube2b A T 11: 51,986,707 V145D probably damaging Het
Other mutations in Vmn1r219
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02517:Vmn1r219 APN 13 23163096 missense probably benign 0.01
R0662:Vmn1r219 UTSW 13 23163453 missense possibly damaging 0.51
R1144:Vmn1r219 UTSW 13 23163213 missense probably damaging 1.00
R4036:Vmn1r219 UTSW 13 23163102 missense probably benign 0.00
R4762:Vmn1r219 UTSW 13 23162829 nonsense probably null
R5311:Vmn1r219 UTSW 13 23162893 missense probably damaging 1.00
R6488:Vmn1r219 UTSW 13 23162965 missense probably benign 0.02
R7157:Vmn1r219 UTSW 13 23163355 missense probably damaging 1.00
R7305:Vmn1r219 UTSW 13 23163144 missense probably benign
R7875:Vmn1r219 UTSW 13 23163193 missense possibly damaging 0.58
Posted On2016-08-02