Incidental Mutation 'R3777:Vdac3'
ID 271841
Institutional Source Beutler Lab
Gene Symbol Vdac3
Ensembl Gene ENSMUSG00000008892
Gene Name voltage-dependent anion channel 3
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.510) question?
Stock # R3777 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 23067091-23083829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23070525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 128 (N128D)
Ref Sequence ENSEMBL: ENSMUSP00000009036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009036] [ENSMUST00000179233]
AlphaFold Q60931
Predicted Effect probably benign
Transcript: ENSMUST00000009036
AA Change: N128D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000009036
Gene: ENSMUSG00000008892
AA Change: N128D

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 3.5e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179233
AA Change: N129D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000136273
Gene: ENSMUSG00000008892
AA Change: N129D

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dsg1b G A 18: 20,532,644 (GRCm39) V563I probably damaging Het
Elovl4 ACT A 9: 83,667,201 (GRCm39) probably null Het
Erp27 A T 6: 136,896,901 (GRCm39) N100K possibly damaging Het
Fam171b T A 2: 83,708,605 (GRCm39) I369K probably benign Het
Fmn1 A G 2: 113,195,467 (GRCm39) E389G unknown Het
Gm14569 T A X: 35,696,085 (GRCm39) M875L probably benign Het
Gm5819 A G 18: 8,694,429 (GRCm39) E118G probably damaging Het
Grip1 G A 10: 119,821,535 (GRCm39) probably null Het
Heatr1 C A 13: 12,428,229 (GRCm39) L789I possibly damaging Het
Hsd17b1 T C 11: 100,969,529 (GRCm39) S59P probably damaging Het
Ighv1-72 A T 12: 115,721,636 (GRCm39) S107T probably damaging Het
Inpp4b T A 8: 82,768,621 (GRCm39) V710D possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Larp4 T A 15: 99,888,238 (GRCm39) W92R probably damaging Het
Man2b2 T C 5: 36,972,871 (GRCm39) N548D probably benign Het
Mfsd4b2 A G 10: 39,797,527 (GRCm39) I276T possibly damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Myl12a G T 17: 71,301,631 (GRCm39) H165Q possibly damaging Het
Myo18b T A 5: 112,905,462 (GRCm39) E2045D probably damaging Het
Mypn T C 10: 62,983,761 (GRCm39) T496A possibly damaging Het
Ncoa7 A G 10: 30,565,752 (GRCm39) Y632H probably damaging Het
Or13c3 A T 4: 52,855,636 (GRCm39) N292K probably damaging Het
Or2d4 A T 7: 106,543,519 (GRCm39) S230T probably benign Het
Or4b13 T C 2: 90,082,969 (GRCm39) Y121C probably damaging Het
Or5p52 C A 7: 107,501,954 (GRCm39) A10E probably benign Het
Or8g33 A T 9: 39,337,901 (GRCm39) S155R possibly damaging Het
Pik3c2g A T 6: 139,599,385 (GRCm39) Y167F probably damaging Het
Pik3cg A C 12: 32,244,708 (GRCm39) C915W probably damaging Het
Ppfibp2 A G 7: 107,328,396 (GRCm39) T476A probably benign Het
Rapgef1 C T 2: 29,609,701 (GRCm39) H675Y possibly damaging Het
Rpn2 T A 2: 157,141,477 (GRCm39) V263D probably damaging Het
Rps13 A G 7: 115,933,160 (GRCm39) L16P probably damaging Het
Rsph14 C G 10: 74,793,419 (GRCm39) Q360H possibly damaging Het
Rsph14 T G 10: 74,793,420 (GRCm39) Q360P possibly damaging Het
Semp2l2b T C 10: 21,942,861 (GRCm39) E373G probably damaging Het
Smarcc2 G A 10: 128,318,812 (GRCm39) probably null Het
Sp8 G T 12: 118,812,750 (GRCm39) V202L possibly damaging Het
Spag9 G A 11: 93,989,852 (GRCm39) probably null Het
Svil A G 18: 5,090,855 (GRCm39) N915S probably damaging Het
Syt17 A G 7: 118,033,180 (GRCm39) L215P probably damaging Het
Tle6 G T 10: 81,431,987 (GRCm39) P86T probably benign Het
Tph2 T C 10: 114,915,910 (GRCm39) D421G probably benign Het
Trpm2 A C 10: 77,771,824 (GRCm39) L605R probably benign Het
Vat1l T C 8: 114,963,540 (GRCm39) probably null Het
Vegfb G A 19: 6,964,767 (GRCm39) probably benign Het
Zfp808 T A 13: 62,319,717 (GRCm39) N315K 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
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'- TGGCACTAAAGACGCAATGAAC -3'
(R):5'- CACACTTGCATCCTAAGAGTTG -3'

Sequencing Primer
(F):5'- GCAATGAACACTCACACGTG -3'
(R):5'- CACTTGCATCCTAAGAGTTGTATTTG -3'
Posted On 2015-03-25