Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00536:Vdac2'

4227

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 #

IGL00536

Quality Score

Status

Chromosome

Chromosomal Location

21881629-21895947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21888511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 138 (G138S)

Ref Sequence

ENSEMBL: ENSMUSP00000152916 (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: G138S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022293
Gene: ENSMUSG00000021771
AA Change: G138S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Porin_3	15	75	1.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153320
AA Change: G138S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000115560
Gene: ENSMUSG00000021771
AA Change: G138S

Domain	Start	End	E-Value	Type
Pfam:Porin_3	15	201	1.6e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173456
AA Change: G126S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134023
Gene: ENSMUSG00000021771
AA Change: G126S

Domain	Start	End	E-Value	Type
Pfam:Porin_3	3	276	6.4e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172727
AA Change: G126S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771
AA Change: G126S

Domain	Start	End	E-Value	Type
Pfam:Porin_3	3	276	6.4e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224373
AA Change: G138S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	C	T	5: 99,370,242 (GRCm39)	C506Y	probably damaging	Het
Bahcc1	A	G	11: 120,175,871 (GRCm39)	E1899G	probably damaging	Het
Celsr3	C	T	9: 108,706,391 (GRCm39)	T958I	probably benign	Het
Dock11	T	C	X: 35,258,087 (GRCm39)	V644A	probably benign	Het
Dyrk2	C	A	10: 118,696,097 (GRCm39)	R387L	probably damaging	Het
Fam234b	A	G	6: 135,202,202 (GRCm39)	Y308C	probably damaging	Het
Ik	A	T	18: 36,889,921 (GRCm39)	R517*	probably null	Het
Lipo4	T	A	19: 33,493,086 (GRCm39)	Y49F	probably damaging	Het
Pura	G	A	18: 36,420,943 (GRCm39)	M243I	probably benign	Het
Rsph4a	T	C	10: 33,787,652 (GRCm39)		probably benign	Het
Scaf4	G	T	16: 90,054,250 (GRCm39)	P213Q	unknown	Het
Slc39a12	A	T	2: 14,400,879 (GRCm39)		probably benign	Het
Tex11	C	T	X: 100,076,165 (GRCm39)	C156Y	probably null	Het
Zan	C	T	5: 137,444,944 (GRCm39)	V1772I	unknown	Het
Zscan2	C	T	7: 80,525,164 (GRCm39)	T295M	probably damaging	Het

Other mutations in Vdac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Vdac2	APN	14	21,888,592 (GRCm39)	missense	possibly damaging	0.53
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
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

2012-04-20