Mutagenetix > Incidental Mutation

Incidental Mutation 'R6223:Vdac2'

504161

Institutional Source

Beutler Lab

Gene Symbol

Vdac2

Ensembl Gene

ENSMUSG00000021771

Gene Name

voltage-dependent anion channel 2

Synonyms

Vdac6

MMRRC Submission

044354-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.479) question?

Stock #

R6223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21881629-21895947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21895246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 265 (G265R)

Ref Sequence

ENSEMBL: ENSMUSP00000134023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022293] [ENSMUST00000124549] [ENSMUST00000153320] [ENSMUST00000173456] [ENSMUST00000172727] [ENSMUST00000224373] [ENSMUST00000177527]

AlphaFold

Q60930

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022293
AA Change: G277R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022293
Gene: ENSMUSG00000021771
AA Change: G277R

Domain	Start	End	E-Value	Type
Pfam:Porin_3	15	288	4.5e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000022295

Predicted Effect

probably benign
Transcript: ENSMUST00000124549

SMART Domains

Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:Methyltransf_3	59	262	2.7e-58	PFAM
Pfam:Methyltransf_18	102	213	5.5e-9	PFAM
Pfam:Methyltransf_24	107	210	3.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152905

Predicted Effect

probably benign
Transcript: ENSMUST00000153320

SMART Domains

Protein: ENSMUSP00000115560
Gene: ENSMUSG00000021771

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173456
AA Change: G265R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134023
Gene: ENSMUSG00000021771
AA Change: G265R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172727
AA Change: G265R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771
AA Change: G265R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169054

Predicted Effect

probably benign
Transcript: ENSMUST00000224373

Predicted Effect

probably benign
Transcript: ENSMUST00000177527

SMART Domains

Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_3	1	200	1.6e-64	PFAM
Pfam:Methyltransf_18	40	150	4.2e-10	PFAM
Pfam:Methyltransf_24	45	148	1.1e-15	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,269,873 (GRCm39)	R8S	probably benign	Het
Abca8b	A	G	11: 109,868,672 (GRCm39)	V164A	probably benign	Het
Acadm	C	A	3: 153,644,186 (GRCm39)		probably null	Het
Ap3b2	G	A	7: 81,123,210 (GRCm39)	R435*	probably null	Het
Art2b	A	G	7: 101,229,158 (GRCm39)	F247S	possibly damaging	Het
C1rb	T	A	6: 124,551,539 (GRCm39)	D216E	probably benign	Het
Casz1	C	A	4: 149,017,840 (GRCm39)	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdc25a	C	A	9: 109,718,842 (GRCm39)	P409T	possibly damaging	Het
Cidea	A	C	18: 67,491,809 (GRCm39)	K23T	possibly damaging	Het
Clspn	T	A	4: 126,479,961 (GRCm39)	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,271,183 (GRCm39)	D385V	probably damaging	Het
Crat	C	T	2: 30,297,042 (GRCm39)	V304I	probably benign	Het
Cyp2d26	A	T	15: 82,675,918 (GRCm39)	W265R	probably benign	Het
Dock8	A	T	19: 25,138,416 (GRCm39)	Y1247F	probably benign	Het
Dync2i1	T	C	12: 116,221,078 (GRCm39)	D11G	possibly damaging	Het
Eed	A	G	7: 89,605,495 (GRCm39)	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbn1	C	T	2: 125,254,591 (GRCm39)	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,406,588 (GRCm39)	F684L	probably damaging	Het
Glrp1	G	A	1: 88,431,164 (GRCm39)	Q69*	probably null	Het
Gm29797	T	C	2: 181,300,850 (GRCm39)	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,275,797 (GRCm39)	R543K	probably benign	Het
Ifih1	T	C	2: 62,428,603 (GRCm39)	I891V	probably benign	Het
Ifnar2	C	T	16: 91,184,876 (GRCm39)	T89M	probably damaging	Het
Kat6a	C	A	8: 23,430,442 (GRCm39)	N1932K	unknown	Het
Mgat5	A	T	1: 127,310,716 (GRCm39)	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,956,159 (GRCm39)		probably null	Het
Myh3	G	T	11: 66,988,843 (GRCm39)	V1499L	probably benign	Het
Ncan	A	C	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Olfml3	G	A	3: 103,643,776 (GRCm39)	R202W	probably damaging	Het
Or2w4	G	A	13: 21,795,536 (GRCm39)	T201I	probably benign	Het
Or4e2	A	G	14: 52,688,136 (GRCm39)	R89G	probably benign	Het
Pcdh9	T	C	14: 93,253,169 (GRCm39)	K1131E	probably benign	Het
Pcolce	A	G	5: 137,603,561 (GRCm39)	M424T	probably damaging	Het
Pi16	C	A	17: 29,546,413 (GRCm39)	S397*	probably null	Het
Pi4ka	A	T	16: 17,175,435 (GRCm39)	Y464*	probably null	Het
Pik3c2b	T	A	1: 132,998,095 (GRCm39)	L324M	probably damaging	Het
Prdm2	T	C	4: 142,868,777 (GRCm39)	N179S	probably benign	Het
Prss56	C	T	1: 87,113,134 (GRCm39)	P183S	probably benign	Het
Prx	T	G	7: 27,216,261 (GRCm39)	M393R	probably damaging	Het
Qpctl	T	C	7: 18,877,134 (GRCm39)	D328G	probably damaging	Het
Qser1	A	G	2: 104,617,993 (GRCm39)	S940P	probably benign	Het
Rchy1	G	A	5: 92,105,826 (GRCm39)	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,665,868 (GRCm39)	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,444,086 (GRCm39)	V388A	probably benign	Het
Ssu2	G	T	6: 112,353,409 (GRCm39)	C238*	probably null	Het
Stub1	C	T	17: 26,051,787 (GRCm39)	G14D	probably damaging	Het
Tab1	T	A	15: 80,032,464 (GRCm39)	C24S	probably damaging	Het
Tdrd1	T	C	19: 56,854,282 (GRCm39)	V1076A	probably damaging	Het
Tex10	T	C	4: 48,468,525 (GRCm39)	R134G	probably damaging	Het
Tg	T	A	15: 66,579,771 (GRCm39)	N1525K	probably benign	Het
Tll2	G	A	19: 41,124,391 (GRCm39)	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,807,191 (GRCm39)	M1V	probably null	Het
Ttc7b	A	G	12: 100,353,368 (GRCm39)		probably null	Het
Ubb	A	G	11: 62,443,351 (GRCm39)	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,678,330 (GRCm39)	Y796*	probably null	Het
Vmn2r45	A	T	7: 8,486,301 (GRCm39)	V329E	probably benign	Het
Zbtb47	G	A	9: 121,592,853 (GRCm39)	R391Q	possibly 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
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
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
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'- TGCCCTCAGATGGTGTTGAC -3'
(R):5'- GAACCAGCCAACAGTGACTGTC -3'

Sequencing Primer
(F):5'- GGTGTTGACCATCAGTTTTTAGCACC -3'
(R):5'- GCTCTTGCTTCATCATCCTTTG -3'

Posted On

2018-02-28