Incidental Mutation 'IGL02114:Vmn2r30'
ID280275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn2r30
Ensembl Gene ENSMUSG00000070847
Gene Namevomeronasal 2, receptor 30
SynonymsV2r15
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02114
Quality Score
Status
Chromosome7
Chromosomal Location7311333-7337609 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7337409 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 29 (I29V)
Ref Sequence ENSEMBL: ENSMUSP00000134223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072475] [ENSMUST00000174368] [ENSMUST00000210877]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072475
AA Change: I29V

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072296
Gene: ENSMUSG00000070847
AA Change: I29V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 160 469 2.1e-25 PFAM
Pfam:NCD3G 512 565 8.1e-21 PFAM
Pfam:7tm_3 598 833 2.1e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000174368
AA Change: I29V

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134223
Gene: ENSMUSG00000070847
AA Change: I29V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 155 468 1.5e-27 PFAM
Pfam:NCD3G 512 564 7.2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210877
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700084J12Rik C A 15: 33,405,698 probably benign Het
Akap3 T C 6: 126,865,996 V526A probably damaging Het
Ano6 C A 15: 95,943,460 S479R probably damaging Het
Aqp8 C A 7: 123,464,196 H90N probably damaging Het
Arih1 A T 9: 59,426,169 C229S probably damaging Het
Col6a6 C A 9: 105,767,199 probably null Het
Cp A G 3: 19,966,347 E168G probably benign Het
Creb5 C T 6: 53,604,458 probably benign Het
Cyp2c66 C A 19: 39,171,075 probably benign Het
Dcpp2 C A 17: 23,900,635 A141D possibly damaging Het
Dnah5 A G 15: 28,397,124 D3321G probably damaging Het
Ecsit T C 9: 22,078,144 probably benign Het
Gabra1 T C 11: 42,135,575 I297V probably damaging Het
Gja8 T C 3: 96,920,025 K107R probably benign Het
Gm16686 A T 4: 88,755,502 L30Q probably null Het
Gm4758 T A 16: 36,311,255 Y42* probably null Het
Hbp1 T C 12: 31,930,675 probably benign Het
Inhbc T C 10: 127,370,102 I99V probably benign Het
Kcne3 T A 7: 100,184,490 probably benign Het
Larp1 T C 11: 58,057,055 Y926H probably damaging Het
Lhfpl5 G T 17: 28,576,175 A59S possibly damaging Het
Mov10 T A 3: 104,795,318 probably benign Het
Myl12b A T 17: 70,977,169 N21K possibly damaging Het
Ncoa7 A T 10: 30,662,364 V675E probably damaging Het
Nt5c1b T C 12: 10,375,444 I255T probably damaging Het
Numa1 T A 7: 102,011,876 probably benign Het
Olfr273 T A 4: 52,856,144 Y123F probably damaging Het
Otop2 A T 11: 115,326,980 D214V possibly damaging Het
Plec C A 15: 76,173,548 G3928V probably damaging Het
Prkcz T C 4: 155,271,590 E176G probably damaging Het
Qdpr G A 5: 45,434,676 T106I possibly damaging Het
R3hdm2 T G 10: 127,484,109 M481R probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Skiv2l C T 17: 34,841,116 V145M probably damaging Het
Slx4ip T A 2: 137,000,200 V15D probably damaging Het
Stat4 T C 1: 52,102,865 S624P probably damaging Het
Tecpr2 T A 12: 110,968,887 L1380Q probably damaging Het
Traf2 T C 2: 25,524,992 I286V possibly damaging Het
Wdr43 A G 17: 71,652,848 Q561R probably benign Het
Zfp607b T A 7: 27,703,725 F535L probably benign Het
Other mutations in Vmn2r30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01797:Vmn2r30 APN 7 7334196 missense probably benign
IGL02429:Vmn2r30 APN 7 7334244 missense possibly damaging 0.95
IGL03214:Vmn2r30 APN 7 7334260 missense probably benign 0.00
R1723:Vmn2r30 UTSW 7 7334260 missense probably benign 0.00
R4472:Vmn2r30 UTSW 7 7317092 missense probably damaging 1.00
R5409:Vmn2r30 UTSW 7 7312548 missense probably damaging 1.00
R5979:Vmn2r30 UTSW 7 7312335 missense probably damaging 0.99
R6035:Vmn2r30 UTSW 7 7334351 missense probably benign 0.34
R6035:Vmn2r30 UTSW 7 7334351 missense probably benign 0.34
R6336:Vmn2r30 UTSW 7 7334308 missense probably benign 0.03
R6904:Vmn2r30 UTSW 7 7312548 missense probably damaging 1.00
R7124:Vmn2r30 UTSW 7 7334184 missense probably benign 0.05
V8831:Vmn2r30 UTSW 7 7334149 missense probably benign 0.00
Posted On2015-04-16