Incidental Mutation 'R9635:Vdac3'
ID 725756
Institutional Source Beutler Lab
Gene Symbol Vdac3
Ensembl Gene ENSMUSG00000008892
Gene Name voltage-dependent anion channel 3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.510) question?
Stock # R9635 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 23067091-23083829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23077575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 37 (S37R)
Ref Sequence ENSEMBL: ENSMUSP00000136273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009036] [ENSMUST00000179233]
AlphaFold Q60931
Predicted Effect probably damaging
Transcript: ENSMUST00000009036
AA Change: S37R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000009036
Gene: ENSMUSG00000008892
AA Change: S37R

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 3.5e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179233
AA Change: S37R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136273
Gene: ENSMUSG00000008892
AA Change: S37R

DomainStartEndE-ValueType
Pfam:Porin_3 3 277 4.2e-85 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A T 5: 4,100,545 (GRCm39) T2736S probably benign Het
AW209491 T C 13: 14,811,957 (GRCm39) V270A probably benign Het
Best3 A T 10: 116,838,450 (GRCm39) K169N probably damaging Het
Cabyr A G 18: 12,883,816 (GRCm39) K101R probably damaging Het
Cfhr4 C T 1: 139,701,764 (GRCm39) V117I probably damaging Het
Chd5 A T 4: 152,461,079 (GRCm39) D1223V possibly damaging Het
Commd2 T C 3: 57,559,064 (GRCm39) D4G probably benign Het
Cox5b-ps T C 13: 21,685,294 (GRCm39) T99A probably benign Het
Cyp3a41a A T 5: 145,652,320 (GRCm39) F60I possibly damaging Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dnmbp C A 19: 43,855,974 (GRCm39) A261S probably benign Het
Fcgbp A C 7: 27,800,832 (GRCm39) T1293P probably benign Het
Gal3st2b A C 1: 93,868,777 (GRCm39) N336T probably benign Het
Gm10309 T C 17: 86,806,494 (GRCm39) T7A unknown Het
Gm10322 A T 10: 59,451,931 (GRCm39) H16L possibly damaging Het
Gpr17 A G 18: 32,080,199 (GRCm39) L288P probably damaging Het
Ighe T C 12: 113,235,899 (GRCm39) I142M Het
Lrrc7 T C 3: 157,946,138 (GRCm39) K187R probably benign Het
Lrrk2 T A 15: 91,696,527 (GRCm39) D2438E probably benign Het
Map3k20 G A 2: 72,232,403 (GRCm39) S353N possibly damaging Het
Moxd2 T A 6: 40,863,000 (GRCm39) D102V possibly damaging Het
Obscn T C 11: 58,972,686 (GRCm39) E2120G possibly damaging Het
Or4f4-ps1 T A 2: 111,330,267 (GRCm39) C223* probably null Het
Or5p79 A G 7: 108,221,654 (GRCm39) I212V probably benign Het
Or6c5c T C 10: 129,299,463 (GRCm39) V306A probably benign Het
Pcdhb5 A T 18: 37,454,510 (GRCm39) T297S probably benign Het
Pdcd2l A C 7: 33,892,356 (GRCm39) L171R possibly damaging Het
Ppp4r3b T C 11: 29,138,113 (GRCm39) S154P probably benign Het
Prc1 T G 7: 79,962,047 (GRCm39) M515R probably benign Het
Rbm34 A G 8: 127,696,872 (GRCm39) S77P probably damaging Het
Samsn1 T G 16: 75,673,457 (GRCm39) T140P probably damaging Het
Slc34a1 G A 13: 55,556,940 (GRCm39) V379M probably damaging Het
Stab2 T A 10: 86,686,651 (GRCm39) R2298* probably null Het
Trim10 G A 17: 37,187,890 (GRCm39) V369M probably damaging Het
Trpv6 T C 6: 41,599,901 (GRCm39) N585S possibly damaging Het
Ttn C T 2: 76,586,617 (GRCm39) D21765N possibly damaging Het
Ubxn6 A G 17: 56,376,189 (GRCm39) L349P probably damaging Het
Vmn1r124 G A 7: 20,993,720 (GRCm39) L275F probably benign Het
Wdr17 A T 8: 55,101,375 (GRCm39) I964N probably damaging Het
Zdhhc22 A G 12: 87,030,396 (GRCm39) F184S possibly damaging Het
Zfp512 A G 5: 31,623,669 (GRCm39) H124R probably benign Het
Zswim4 T C 8: 84,939,354 (GRCm39) T843A probably damaging Het
Other mutations in Vdac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Vdac3 APN 8 23,070,393 (GRCm39) missense possibly damaging 0.89
R0633:Vdac3 UTSW 8 23,070,404 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGAGATGCCTGGTACTCTTATG -3'
(R):5'- TCTTGTCTGATGAGAATACCATGTG -3'

Sequencing Primer
(F):5'- GAGATGCCTGGTACTCTTATGAAGAC -3'
(R):5'- CTGATGAGAATACCATGTGTTTTCC -3'
Posted On 2022-09-12