Incidental Mutation 'IGL01777:Vmn2r43'
ID154107
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn2r43
Ensembl Gene ENSMUSG00000053720
Gene Namevomeronasal 2, receptor 43
SynonymsEC2-V2R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.231) question?
Stock #IGL01777
Quality Score
Status
Chromosome7
Chromosomal Location8244348-8260599 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8255273 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 314 (I314V)
Ref Sequence ENSEMBL: ENSMUSP00000069647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066317]
Predicted Effect probably damaging
Transcript: ENSMUST00000066317
AA Change: I314V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069647
Gene: ENSMUSG00000053720
AA Change: I314V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 73 453 5.1e-35 PFAM
Pfam:NCD3G 496 549 7.7e-21 PFAM
Pfam:7tm_3 582 817 3e-56 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,784 V240A possibly damaging Het
Aftph A T 11: 20,726,554 C352S possibly damaging Het
Cand2 T C 6: 115,792,857 V876A probably damaging Het
Ccar1 T C 10: 62,780,577 I125V possibly damaging Het
Celsr3 A T 9: 108,835,942 M1858L probably benign Het
Csmd3 A T 15: 47,698,198 N2134K probably benign Het
Dhx29 A G 13: 112,930,872 I96V probably benign Het
Dst A G 1: 34,199,397 T3727A probably benign Het
Elavl4 T A 4: 110,206,661 probably null Het
Eno2 C T 6: 124,766,637 G113D probably damaging Het
Esf1 A C 2: 140,157,172 probably null Het
Frmd4b T C 6: 97,295,944 D783G probably benign Het
Gm13023 T G 4: 143,795,118 C435G possibly damaging Het
Grin2a C T 16: 9,644,130 V713I probably benign Het
Impa1 C T 3: 10,322,948 G138D probably damaging Het
Kcnt2 A G 1: 140,595,998 T1079A probably benign Het
Kmt2a A G 9: 44,849,005 S549P probably damaging Het
Magoh C A 4: 107,883,176 Q86K probably benign Het
Moxd1 C A 10: 24,252,596 T182K probably benign Het
Olfr476 A G 7: 107,967,502 Y35C probably damaging Het
Rab3b A T 4: 108,929,410 Q119L probably damaging Het
Snap47 T A 11: 59,421,651 probably null Het
Taar3 A G 10: 23,950,005 R150G probably benign Het
Tas2r102 C T 6: 132,762,852 T241I probably damaging Het
Tas2r114 C T 6: 131,689,701 W121* probably null Het
Trak1 G A 9: 121,431,560 probably null Het
Ubn1 T C 16: 5,072,149 V426A possibly damaging Het
Vmn1r40 T C 6: 89,714,222 L7P probably benign Het
Vrtn T G 12: 84,648,922 S149A probably benign Het
Other mutations in Vmn2r43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01756:Vmn2r43 APN 7 8255584 missense probably benign 0.00
IGL02096:Vmn2r43 APN 7 8257513 splice site probably benign
IGL02429:Vmn2r43 APN 7 8255552 missense probably benign 0.00
IGL03026:Vmn2r43 APN 7 8255097 missense probably benign 0.05
IGL03155:Vmn2r43 APN 7 8255069 missense possibly damaging 0.91
R1722:Vmn2r43 UTSW 7 8255068 missense probably damaging 0.99
R1813:Vmn2r43 UTSW 7 8255056 missense possibly damaging 0.81
R1896:Vmn2r43 UTSW 7 8255056 missense possibly damaging 0.81
R1975:Vmn2r43 UTSW 7 8255551 missense possibly damaging 0.91
R3951:Vmn2r43 UTSW 7 8255320 missense probably benign 0.00
R4658:Vmn2r43 UTSW 7 8255071 missense probably benign 0.01
R4879:Vmn2r43 UTSW 7 8255103 missense probably benign 0.01
R4896:Vmn2r43 UTSW 7 8244849 missense probably damaging 1.00
R5004:Vmn2r43 UTSW 7 8244849 missense probably damaging 1.00
R5041:Vmn2r43 UTSW 7 8244807 missense probably damaging 1.00
R5577:Vmn2r43 UTSW 7 8244812 missense probably damaging 1.00
R6073:Vmn2r43 UTSW 7 8255185 missense probably benign 0.13
R6133:Vmn2r43 UTSW 7 8244971 missense probably damaging 1.00
R6867:Vmn2r43 UTSW 7 8255126 missense probably benign 0.00
Posted On2014-02-04