Incidental Mutation 'IGL00156:Vdac2'
ID 990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vdac2
Ensembl Gene ENSMUSG00000021771
Gene Name voltage-dependent anion channel 2
Synonyms Vdac6
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # IGL00156
Quality Score
Status
Chromosome 14
Chromosomal Location 21881629-21895947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21888592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 165 (Y165H)
Ref Sequence ENSEMBL: ENSMUSP00000115560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022293] [ENSMUST00000152562] [ENSMUST00000153320] [ENSMUST00000173456] [ENSMUST00000172727] [ENSMUST00000224373]
AlphaFold Q60930
Predicted Effect possibly damaging
Transcript: ENSMUST00000022293
AA Change: Y165H

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022293
Gene: ENSMUSG00000021771
AA Change: Y165H

DomainStartEndE-ValueType
Pfam:Porin_3 15 288 4.5e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147715
Predicted Effect probably benign
Transcript: ENSMUST00000152562
SMART Domains Protein: ENSMUSP00000123032
Gene: ENSMUSG00000021771

DomainStartEndE-ValueType
Pfam:Porin_3 15 75 1.7e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153320
AA Change: Y165H

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115560
Gene: ENSMUSG00000021771
AA Change: Y165H

DomainStartEndE-ValueType
Pfam:Porin_3 15 201 1.6e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173456
AA Change: Y153H

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134023
Gene: ENSMUSG00000021771
AA Change: Y153H

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172727
AA Change: Y153H

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771
AA Change: Y153H

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000224373
AA Change: Y165H

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein is also thought to be involved in the mitochondrial apoptotic pathway via regulation of BCL2-antagonist/killer 1 protein activity. Pseudogenes have been identified on chromosomes 1, 2, 12 and 21, and alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,856,353 (GRCm39) probably null Het
Adamts19 T A 18: 59,157,537 (GRCm39) V943E probably damaging Het
C530025M09Rik C A 2: 149,672,646 (GRCm39) probably benign Het
Cep192 T G 18: 67,953,407 (GRCm39) W475G probably damaging Het
Col28a1 T C 6: 8,014,795 (GRCm39) Y870C probably damaging Het
Cyp2a22 A T 7: 26,637,163 (GRCm39) M207K probably benign Het
Dpm1 A G 2: 168,052,495 (GRCm39) V247A probably benign Het
Glt1d1 T C 5: 127,709,349 (GRCm39) M1T probably null Het
Gm9507 A T 10: 77,647,114 (GRCm39) C188* probably null Het
Hectd4 T C 5: 121,501,933 (GRCm39) V4222A possibly damaging Het
Igkv3-3 T A 6: 70,664,397 (GRCm39) S80T possibly damaging Het
Lrrc49 T C 9: 60,508,603 (GRCm39) K520E probably damaging Het
Ltbp1 A T 17: 75,692,155 (GRCm39) Y1273F probably damaging Het
Lyst T A 13: 13,823,463 (GRCm39) H1478Q probably benign Het
Mre11a A G 9: 14,736,504 (GRCm39) D518G probably benign Het
Or1e22 T A 11: 73,377,398 (GRCm39) N84I probably benign Het
Or4a71 C T 2: 89,358,551 (GRCm39) D68N probably damaging Het
Or7e168 T C 9: 19,719,692 (GRCm39) I26T probably benign Het
Pkd1l1 T A 11: 8,900,515 (GRCm39) S9C probably damaging Het
Prrc2b A G 2: 32,098,731 (GRCm39) H681R probably damaging Het
Rapgef1 A G 2: 29,612,281 (GRCm39) S644G probably benign Het
Sgce T A 6: 4,689,750 (GRCm39) H361L probably damaging Het
Specc1 G T 11: 62,008,835 (GRCm39) W117L probably benign Het
Srrm4 A G 5: 116,584,616 (GRCm39) S485P possibly damaging Het
Traf2 G T 2: 25,410,463 (GRCm39) Y395* probably null Het
Trf A G 9: 103,098,156 (GRCm39) I34T probably benign Het
Wwp1 T C 4: 19,650,360 (GRCm39) T269A probably benign Het
Other mutations in Vdac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Vdac2 APN 14 21,888,511 (GRCm39) missense probably benign 0.06
IGL02828:Vdac2 APN 14 21,893,957 (GRCm39) missense probably benign 0.11
R1171:Vdac2 UTSW 14 21,887,879 (GRCm39) missense probably damaging 1.00
R1503:Vdac2 UTSW 14 21,887,945 (GRCm39) missense probably damaging 0.96
R1952:Vdac2 UTSW 14 21,887,947 (GRCm39) missense possibly damaging 0.71
R6221:Vdac2 UTSW 14 21,895,246 (GRCm39) missense possibly damaging 0.94
R6223:Vdac2 UTSW 14 21,895,246 (GRCm39) missense possibly damaging 0.94
R8491:Vdac2 UTSW 14 21,887,838 (GRCm39) missense possibly damaging 0.54
R9288:Vdac2 UTSW 14 21,881,962 (GRCm39) missense probably benign
Z1177:Vdac2 UTSW 14 21,881,969 (GRCm39) missense possibly damaging 0.73
Posted On 2011-07-12