Incidental Mutation 'IGL02828:Vdac2'
ID 361276
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 # IGL02828
Quality Score
Status
Chromosome 14
Chromosomal Location 21881629-21895947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21893957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 249 (V249A)
Ref Sequence ENSEMBL: ENSMUSP00000022293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022293] [ENSMUST00000124549] [ENSMUST00000153320] [ENSMUST00000173456] [ENSMUST00000172727] [ENSMUST00000177527] [ENSMUST00000224373]
AlphaFold Q60930
Predicted Effect probably benign
Transcript: ENSMUST00000022293
AA Change: V249A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022293
Gene: ENSMUSG00000021771
AA Change: V249A

DomainStartEndE-ValueType
Pfam:Porin_3 15 288 4.5e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000022295
Predicted Effect probably benign
Transcript: ENSMUST00000124549
SMART Domains Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Methyltransf_3 59 262 2.7e-58 PFAM
Pfam:Methyltransf_18 102 213 5.5e-9 PFAM
Pfam:Methyltransf_24 107 210 3.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152905
Predicted Effect probably benign
Transcript: ENSMUST00000153320
SMART Domains Protein: ENSMUSP00000115560
Gene: ENSMUSG00000021771

DomainStartEndE-ValueType
Pfam:Porin_3 15 201 1.6e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173456
AA Change: V237A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134023
Gene: ENSMUSG00000021771
AA Change: V237A

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172727
AA Change: V237A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771
AA Change: V237A

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170150
Predicted Effect probably benign
Transcript: ENSMUST00000177527
SMART Domains Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773

DomainStartEndE-ValueType
Pfam:Methyltransf_3 1 200 1.6e-64 PFAM
Pfam:Methyltransf_18 40 150 4.2e-10 PFAM
Pfam:Methyltransf_24 45 148 1.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224373
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,871,720 (GRCm39) T86I probably damaging Het
Adam28 C T 14: 68,884,319 (GRCm39) S93N possibly damaging Het
Adamts6 T C 13: 104,433,978 (GRCm39) Y136H probably damaging Het
Ahdc1 A T 4: 132,790,232 (GRCm39) K491I possibly damaging Het
Alb C A 5: 90,615,247 (GRCm39) A253E probably benign Het
Asb18 A G 1: 89,923,932 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,718 (GRCm39) N1909K possibly damaging Het
Atosa G T 9: 74,913,714 (GRCm39) A123S probably damaging Het
Atp12a T A 14: 56,613,599 (GRCm39) V457D possibly damaging Het
Atxn7 G T 14: 14,090,056 (GRCm38) G334W probably damaging Het
Catsperb T A 12: 101,447,041 (GRCm39) I223K probably benign Het
Clec2h T A 6: 128,652,885 (GRCm39) H217Q probably benign Het
Col6a3 T C 1: 90,724,281 (GRCm39) E1416G probably damaging Het
Dcaf1 T A 9: 106,721,501 (GRCm39) probably benign Het
Ddr2 C T 1: 169,816,082 (GRCm39) A542T probably benign Het
Ebf3 T C 7: 136,909,247 (GRCm39) N174S probably damaging Het
Ecpas A G 4: 58,875,512 (GRCm39) S151P possibly damaging Het
Ephb2 A G 4: 136,498,461 (GRCm39) I206T probably benign Het
Fbxo39 T A 11: 72,208,041 (GRCm39) I131N possibly damaging Het
Fdxacb1 G A 9: 50,682,864 (GRCm39) V276I possibly damaging Het
Gpr146 A T 5: 139,378,576 (GRCm39) Y126F probably damaging Het
Hivep3 A T 4: 119,954,929 (GRCm39) K1082* probably null Het
Ifnar1 T A 16: 91,302,304 (GRCm39) probably null Het
Kap A G 6: 133,829,057 (GRCm39) V25A probably benign Het
Klhl2 C A 8: 65,232,791 (GRCm39) R162L probably damaging Het
Kmt2a A G 9: 44,733,244 (GRCm39) probably benign Het
Lrp4 A G 2: 91,305,639 (GRCm39) N303S probably benign Het
Mtpap A T 18: 4,386,207 (GRCm39) N276Y probably damaging Het
Nlrp5 G A 7: 23,120,885 (GRCm39) G684S possibly damaging Het
Or10g3b T C 14: 52,586,799 (GRCm39) R235G probably benign Het
Or14a256 A T 7: 86,265,277 (GRCm39) V192E possibly damaging Het
Pak2 A T 16: 31,840,674 (GRCm39) L469H probably damaging Het
Pcdhb15 T A 18: 37,606,903 (GRCm39) L45Q probably damaging Het
Pi4ka A T 16: 17,098,575 (GRCm39) probably benign Het
Picalm A G 7: 89,826,709 (GRCm39) T386A probably benign Het
Pkd1l2 T C 8: 117,756,298 (GRCm39) T1645A probably benign Het
Plekhm2 A T 4: 141,356,941 (GRCm39) V754E probably damaging Het
Pramel25 A T 4: 143,521,695 (GRCm39) D437V possibly damaging Het
Rbl1 T A 2: 157,041,384 (GRCm39) E81V probably damaging Het
Rbp4 C A 19: 38,106,717 (GRCm39) probably null Het
Rdh12 T C 12: 79,265,459 (GRCm39) V211A probably damaging Het
Ret G A 6: 118,153,168 (GRCm39) A500V probably benign Het
Rin1 T C 19: 5,103,118 (GRCm39) F469S possibly damaging Het
Rmc1 C A 18: 12,322,278 (GRCm39) A577D possibly damaging Het
Rsc1a1 G T 4: 141,411,479 (GRCm39) P478T probably damaging Het
Setd2 A T 9: 110,390,282 (GRCm39) Y1579F probably benign Het
Sh3bp5 A T 14: 31,156,106 (GRCm39) probably benign Het
Slc22a13 G T 9: 119,024,773 (GRCm39) L235I probably benign Het
Slc6a11 A T 6: 114,111,948 (GRCm39) T172S possibly damaging Het
Slitrk1 G T 14: 109,149,048 (GRCm39) S554R possibly damaging Het
Tg G A 15: 66,554,243 (GRCm39) G553S probably damaging Het
Tmem26 G A 10: 68,611,215 (GRCm39) probably null Het
Trpm2 A T 10: 77,754,820 (GRCm39) L1222Q probably benign Het
Vmn1r170 T C 7: 23,305,943 (GRCm39) V115A probably damaging Het
Vmn2r105 A G 17: 20,429,345 (GRCm39) V577A possibly damaging Het
Xpo1 A G 11: 23,232,593 (GRCm39) E371G probably damaging Het
Zfp106 A C 2: 120,362,178 (GRCm39) H980Q possibly damaging Het
Other mutations in Vdac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Vdac2 APN 14 21,888,592 (GRCm39) missense possibly damaging 0.53
IGL00536:Vdac2 APN 14 21,888,511 (GRCm39) missense probably benign 0.06
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 2015-12-18