Incidental Mutation 'R0633:Vdac3'
ID 58077
Institutional Source Beutler Lab
Gene Symbol Vdac3
Ensembl Gene ENSMUSG00000008892
Gene Name voltage-dependent anion channel 3
Synonyms
MMRRC Submission 038822-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.476) question?
Stock # R0633 (G1)
Quality Score 218
Status Not validated
Chromosome 8
Chromosomal Location 23067091-23083829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23070404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 168 (N168S)
Ref Sequence ENSEMBL: ENSMUSP00000009036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009036] [ENSMUST00000179233]
AlphaFold Q60931
Predicted Effect probably damaging
Transcript: ENSMUST00000009036
AA Change: N168S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009036
Gene: ENSMUSG00000008892
AA Change: N168S

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 3.5e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179233
AA Change: N169S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136273
Gene: ENSMUSG00000008892
AA Change: N169S

DomainStartEndE-ValueType
Pfam:Porin_3 3 277 4.2e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211222
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mutants are male sterile with reduced sperm motility and structural defects in the majority of axonemes in epididymal sperm. Mutants of both genders show deficits in behavioral tests measuring contextual or cued fear conditioning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 A T 9: 30,854,807 (GRCm39) R18S probably damaging Het
Adgb G A 10: 10,267,473 (GRCm39) A923V probably benign Het
Aldh1a3 A G 7: 66,049,970 (GRCm39) V416A probably damaging Het
Alox5 C T 6: 116,397,345 (GRCm39) G280R probably damaging Het
Anapc5 A T 5: 122,938,695 (GRCm39) Y360N probably damaging Het
Apbb1 C T 7: 105,208,170 (GRCm39) V685I probably damaging Het
Apc2 C A 10: 80,143,289 (GRCm39) A463E probably damaging Het
Arhgap21 C T 2: 20,860,198 (GRCm39) W1170* probably null Het
Atat1 G A 17: 36,212,315 (GRCm39) R305C probably damaging Het
Brd8dc A G 18: 34,719,319 (GRCm39) V167A possibly damaging Het
Cars2 T C 8: 11,600,511 (GRCm39) D56G probably benign Het
Ccdc202 T G 14: 96,119,379 (GRCm39) N45K probably damaging Het
Cdc42bpb T C 12: 111,311,989 (GRCm39) I108V probably damaging Het
Cftr T A 6: 18,305,979 (GRCm39) I1255K probably damaging Het
Ckap5 T C 2: 91,381,088 (GRCm39) L148P probably damaging Het
Cntn4 A G 6: 106,656,209 (GRCm39) probably null Het
Cpe G A 8: 65,062,237 (GRCm39) P273L probably damaging Het
Cpsf7 A G 19: 10,509,146 (GRCm39) D19G probably benign Het
Ddx25 C A 9: 35,457,268 (GRCm39) R349L probably damaging Het
Depdc7 T C 2: 104,553,226 (GRCm39) D446G probably benign Het
Det1 T A 7: 78,493,683 (GRCm39) N107I probably benign Het
Dock6 A T 9: 21,755,713 (GRCm39) D170E probably benign Het
Dvl1 C T 4: 155,942,752 (GRCm39) L673F probably damaging Het
Gucy1b1 A T 3: 81,952,767 (GRCm39) I222K probably benign Het
Hfm1 T C 5: 107,065,467 (GRCm39) T71A possibly damaging Het
Ikzf1 A G 11: 11,719,223 (GRCm39) E310G probably damaging Het
Impg1 T C 9: 80,301,437 (GRCm39) E163G possibly damaging Het
Itpr2 G T 6: 146,275,954 (GRCm39) H426Q probably damaging Het
Itpripl2 C T 7: 118,089,479 (GRCm39) G360D probably benign Het
Kif14 C T 1: 136,455,043 (GRCm39) R1572C probably damaging Het
L3mbtl3 A T 10: 26,178,583 (GRCm39) H568Q unknown Het
Lgi2 A G 5: 52,711,802 (GRCm39) Y173H probably damaging Het
Lpar5 A C 6: 125,058,954 (GRCm39) Y225S probably benign Het
Lpin3 A G 2: 160,745,894 (GRCm39) H675R probably damaging Het
Lrp2 C A 2: 69,278,464 (GRCm39) G3963V probably damaging Het
Man1a2 G T 3: 100,591,891 (GRCm39) D13E possibly damaging Het
Map1a T C 2: 121,138,495 (GRCm39) V2753A probably damaging Het
Mitf C A 6: 97,980,865 (GRCm39) N97K probably damaging Het
Msh2 A G 17: 87,980,238 (GRCm39) probably null Het
Msr1 T C 8: 40,073,041 (GRCm39) E170G probably damaging Het
Myrip C A 9: 120,217,302 (GRCm39) R79S probably damaging Het
Nek10 G A 14: 14,857,782 (GRCm38) probably null Het
Neto1 C T 18: 86,422,854 (GRCm39) R104* probably null Het
Nom1 A C 5: 29,656,098 (GRCm39) K821T probably damaging Het
Nrxn1 A G 17: 91,011,609 (GRCm39) V340A probably damaging Het
Nxpe4 A T 9: 48,307,897 (GRCm39) I334F probably benign Het
Or1e23 A G 11: 73,407,753 (GRCm39) S91P probably benign Het
Or2ag1 T C 7: 106,313,184 (GRCm39) K235E probably benign Het
Or4a74 T C 2: 89,439,718 (GRCm39) M243V probably benign Het
Or5al7 T A 2: 85,992,435 (GRCm39) N286I probably damaging Het
Or5b124 T C 19: 13,610,700 (GRCm39) V75A probably damaging Het
Or8k27 C T 2: 86,275,473 (GRCm39) M284I probably benign Het
Padi4 A G 4: 140,484,896 (GRCm39) S322P probably damaging Het
Peli3 A G 19: 4,991,810 (GRCm39) Y44H probably damaging Het
Prdm4 A G 10: 85,743,767 (GRCm39) S163P probably damaging Het
Prom2 T C 2: 127,381,445 (GRCm39) D227G probably benign Het
Ptgfr C T 3: 151,507,400 (GRCm39) R321H probably benign Het
Resf1 A T 6: 149,227,199 (GRCm39) I82L probably benign Het
Rgs3 G A 4: 62,544,143 (GRCm39) R136H probably damaging Het
Rgsl1 T G 1: 153,719,853 (GRCm39) N3T possibly damaging Het
Rif1 T C 2: 52,002,575 (GRCm39) S2010P probably benign Het
Rngtt T C 4: 33,368,690 (GRCm39) F408L probably damaging Het
Rtn3 T G 19: 7,434,958 (GRCm39) T326P probably benign Het
Slc18b1 A C 10: 23,681,936 (GRCm39) M167L probably benign Het
Slc22a26 A G 19: 7,765,575 (GRCm39) probably null Het
Slitrk6 T C 14: 110,989,317 (GRCm39) D130G probably damaging Het
Snap47 A G 11: 59,319,439 (GRCm39) V233A probably benign Het
Sumf1 A C 6: 108,121,632 (GRCm39) Y158D probably damaging Het
Tbc1d15 A T 10: 115,056,215 (GRCm39) H252Q probably benign Het
Thsd7b T C 1: 130,116,263 (GRCm39) S1339P possibly damaging Het
Tmem45a2 T C 16: 56,869,777 (GRCm39) I56V probably benign Het
Ttc21b A G 2: 66,066,577 (GRCm39) S359P probably benign Het
Ttc27 T C 17: 75,036,972 (GRCm39) I215T probably benign Het
Ttn C T 2: 76,554,539 (GRCm39) V30759I possibly damaging Het
Wdr7 T C 18: 63,998,371 (GRCm39) V1106A probably benign Het
Wrap73 T A 4: 154,226,948 (GRCm39) F16Y probably damaging Het
Zfat C A 15: 68,052,652 (GRCm39) D381Y probably damaging Het
Other mutations in Vdac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Vdac3 APN 8 23,070,393 (GRCm39) missense possibly damaging 0.89
R1860:Vdac3 UTSW 8 23,070,515 (GRCm39) missense possibly damaging 0.87
R1861:Vdac3 UTSW 8 23,070,515 (GRCm39) missense possibly damaging 0.87
R1865:Vdac3 UTSW 8 23,070,553 (GRCm39) nonsense probably null
R3777:Vdac3 UTSW 8 23,070,525 (GRCm39) missense probably benign 0.01
R6221:Vdac3 UTSW 8 23,078,759 (GRCm39) missense possibly damaging 0.62
R6821:Vdac3 UTSW 8 23,070,491 (GRCm39) missense probably damaging 1.00
R7882:Vdac3 UTSW 8 23,069,073 (GRCm39) missense probably damaging 1.00
R9304:Vdac3 UTSW 8 23,070,568 (GRCm39) missense probably damaging 0.98
R9635:Vdac3 UTSW 8 23,077,575 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCTGACAATGCACTGCTGACG -3'
(R):5'- TCTGGGGAGGGTCTGACTTTACAC -3'

Sequencing Primer
(F):5'- ATGCACTGCTGACGGTGAG -3'
(R):5'- GGTCTGACTTTACACCTCAGAGTAG -3'
Posted On 2013-07-11