Incidental Mutation 'R1952:Vdac2'
ID 217410
Institutional Source Beutler Lab
Gene Symbol Vdac2
Ensembl Gene ENSMUSG00000021771
Gene Name voltage-dependent anion channel 2
Synonyms Vdac6
MMRRC Submission 039966-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # R1952 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 21881629-21895947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21887947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 85 (I85F)
Ref Sequence ENSEMBL: ENSMUSP00000134023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022293] [ENSMUST00000152562] [ENSMUST00000153320] [ENSMUST00000173456] [ENSMUST00000172727] [ENSMUST00000224373]
AlphaFold Q60930
Predicted Effect probably benign
Transcript: ENSMUST00000022293
AA Change: I97F

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022293
Gene: ENSMUSG00000021771
AA Change: I97F

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 probably benign
Transcript: ENSMUST00000153320
AA Change: I97F

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115560
Gene: ENSMUSG00000021771
AA Change: I97F

DomainStartEndE-ValueType
Pfam:Porin_3 15 201 1.6e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173456
AA Change: I85F

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134023
Gene: ENSMUSG00000021771
AA Change: I85F

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172727
AA Change: I85F

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771
AA Change: I85F

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224373
AA Change: I97F

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik A G 14: 32,110,293 (GRCm39) V6A possibly damaging Het
Accsl G T 2: 93,689,778 (GRCm39) H376Q probably damaging Het
Adgrg1 T C 8: 95,735,119 (GRCm39) probably null Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Ankrd12 T C 17: 66,338,566 (GRCm39) D128G probably damaging Het
Bcl2l14 A G 6: 134,409,329 (GRCm39) Y301C probably damaging Het
Camsap3 A G 8: 3,654,789 (GRCm39) T804A probably damaging Het
Capn11 A T 17: 45,953,885 (GRCm39) W154R probably damaging Het
Cd44 T A 2: 102,683,432 (GRCm39) T201S probably damaging Het
Cers4 G A 8: 4,573,461 (GRCm39) W319* probably null Het
Col27a1 T A 4: 63,202,130 (GRCm39) probably null Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dusp7 T A 9: 106,248,028 (GRCm39) C219S probably benign Het
Epha7 A G 4: 28,950,474 (GRCm39) N759S probably damaging Het
Fat1 T C 8: 45,486,963 (GRCm39) V3413A probably benign Het
Gls2 A G 10: 128,045,231 (GRCm39) H576R probably benign Het
Gm4884 G A 7: 40,693,671 (GRCm39) V547M probably benign Het
Hap1 A G 11: 100,243,105 (GRCm39) V174A probably damaging Het
Il12rb2 A G 6: 67,269,300 (GRCm39) S838P probably damaging Het
Ints8 T C 4: 11,221,150 (GRCm39) I742V probably benign Het
Katnal2 G T 18: 77,067,707 (GRCm39) S411R probably benign Het
Lrp1 A C 10: 127,403,300 (GRCm39) V2091G probably damaging Het
Mettl21c A T 1: 44,056,368 (GRCm39) D20E probably damaging Het
Mib1 A T 18: 10,812,077 (GRCm39) E991D possibly damaging Het
Mip T C 10: 128,061,772 (GRCm39) S8P possibly damaging Het
Mllt6 T C 11: 97,568,048 (GRCm39) S826P probably damaging Het
Mlst8 AT ATT 17: 24,696,987 (GRCm39) probably null Het
Myrfl C T 10: 116,658,716 (GRCm39) V414I probably benign Het
Nbeal1 T C 1: 60,273,999 (GRCm39) V409A probably damaging Het
Nin T A 12: 70,077,700 (GRCm39) Q1035L probably damaging Het
Nlgn1 T A 3: 25,490,464 (GRCm39) D421V probably damaging Het
Nlrp10 A G 7: 108,523,770 (GRCm39) V570A probably benign Het
Olfm3 A T 3: 114,895,589 (GRCm39) E157V probably null Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8g37 T C 9: 39,731,363 (GRCm39) S143P probably benign Het
Otud7a A G 7: 63,300,624 (GRCm39) D21G probably damaging Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pcf11 A T 7: 92,310,546 (GRCm39) S481T probably damaging Het
Prkab2 T C 3: 97,573,943 (GRCm39) V194A probably benign Het
Prl3a1 G A 13: 27,454,136 (GRCm39) G38E possibly damaging Het
Psmb8 T C 17: 34,419,884 (GRCm39) V246A probably damaging Het
Ptpn12 A T 5: 21,203,308 (GRCm39) V490E probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Qars1 G A 9: 108,390,380 (GRCm39) R427H probably benign Het
R3hdml T C 2: 163,340,216 (GRCm39) F128L probably benign Het
Rapgef4 A G 2: 72,038,471 (GRCm39) M541V probably benign Het
Rhbdf1 G A 11: 32,164,277 (GRCm39) R234* probably null Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Satb1 A T 17: 52,047,173 (GRCm39) L683Q probably damaging Het
Satb2 T C 1: 56,938,229 (GRCm39) T132A probably damaging Het
Sbspon A G 1: 15,930,519 (GRCm39) S156P probably damaging Het
Shb A T 4: 45,458,347 (GRCm39) probably null Het
She A G 3: 89,756,792 (GRCm39) K282R possibly damaging Het
Slc25a13 A G 6: 6,152,482 (GRCm39) L85P probably damaging Het
Slc7a13 A T 4: 19,841,578 (GRCm39) H475L probably benign Het
Sorl1 C T 9: 41,957,920 (GRCm39) V575I probably benign Het
Spag9 T A 11: 93,988,184 (GRCm39) C833S possibly damaging Het
Speer2 A C 16: 69,654,052 (GRCm39) N232K probably damaging Het
Syncrip A T 9: 88,358,927 (GRCm39) M194K probably damaging Het
Sytl3 A C 17: 6,995,732 (GRCm39) T171P probably damaging Het
Taar7f T A 10: 23,925,747 (GRCm39) Y114N probably damaging Het
Tamalin T C 15: 101,122,381 (GRCm39) Y67H probably benign Het
Tap1 C G 17: 34,412,481 (GRCm39) P506R probably damaging Het
Tle6 T C 10: 81,431,319 (GRCm39) D212G possibly damaging Het
Trim80 G T 11: 115,332,155 (GRCm39) E116* probably null Het
Ttll4 A G 1: 74,726,718 (GRCm39) R745G probably damaging Het
Vmn1r188 A G 13: 22,272,309 (GRCm39) R88G probably damaging Het
Washc2 T C 6: 116,232,052 (GRCm39) S821P possibly damaging Het
Wdhd1 T C 14: 47,507,647 (GRCm39) Y213C probably damaging Het
Wdr55 C A 18: 36,893,437 (GRCm39) P33Q probably damaging Het
Yrdc C T 4: 124,745,739 (GRCm39) A32V probably benign Het
Zfp608 T A 18: 55,030,851 (GRCm39) K1030* probably null Het
Zfp618 T A 4: 63,050,555 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCTGGGCAGTGGATTCTTC -3'
(R):5'- GCCTGTAAGCTCAATGCACAC -3'

Sequencing Primer
(F):5'- CTTCAGGCTTAGGAGAAGGTTC -3'
(R):5'- TGTAAGCTCAATGCACACCAAAC -3'
Posted On 2014-08-01