Mutagenetix > Incidental Mutation

Incidental Mutation 'R6221:Vdac2'

504045

Institutional Source

Beutler Lab

Gene Symbol

Vdac2

Ensembl Gene

ENSMUSG00000021771

Gene Name

voltage-dependent anion channel 2

Synonyms

Vdac6

MMRRC Submission

044432-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R6221 (G1)

Quality Score

225.009

Status

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,874 (GRCm39)	M108V	probably benign	Het
Adgrl1	C	T	8: 84,664,316 (GRCm39)	Q1236*	probably null	Het
Adprhl1	T	C	8: 13,275,634 (GRCm39)	I375V	probably benign	Het
Bsn	A	G	9: 107,982,765 (GRCm39)	S3663P	unknown	Het
Cfap44	A	T	16: 44,257,549 (GRCm39)	Q1028L	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Col1a2	T	C	6: 4,539,490 (GRCm39)	S1253P	unknown	Het
Dkk3	A	G	7: 111,720,853 (GRCm39)	Y158H	probably damaging	Het
Dmxl1	A	G	18: 50,004,799 (GRCm39)	Y949C	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,152 (GRCm39)	Y164C	probably benign	Het
Evx1	T	A	6: 52,293,768 (GRCm39)	V312E	probably damaging	Het
Fam240b	T	C	13: 64,629,591 (GRCm39)	N75S	probably benign	Het
Fat2	A	G	11: 55,186,898 (GRCm39)		probably null	Het
Fbn1	G	T	2: 125,162,841 (GRCm39)	D2148E	probably benign	Het
Fzd4	A	G	7: 89,054,100 (GRCm39)	H69R	probably damaging	Het
Fzd6	T	C	15: 38,894,239 (GRCm39)	V135A	probably benign	Het
Gimap8	T	C	6: 48,635,876 (GRCm39)	L547S	probably damaging	Het
Gnrhr	G	A	5: 86,333,262 (GRCm39)	Q203*	probably null	Het
Gpaa1	T	G	15: 76,218,032 (GRCm39)	V341G	probably benign	Het
Grik3	T	A	4: 125,598,916 (GRCm39)	L828Q	probably damaging	Het
Heatr5b	T	C	17: 79,074,383 (GRCm39)	N1568S	probably benign	Het
Hpf1	T	A	8: 61,346,808 (GRCm39)	V41E	probably damaging	Het
Hsd3b1	A	T	3: 98,760,472 (GRCm39)	M173K	probably benign	Het
Hsd3b6	A	G	3: 98,713,849 (GRCm39)	I150T	probably benign	Het
Ica1	C	G	6: 8,644,181 (GRCm39)	L369F	possibly damaging	Het
Inf2	T	G	12: 112,570,179 (GRCm39)	S293A	possibly damaging	Het
Klra10	T	C	6: 130,246,235 (GRCm39)	T247A	probably benign	Het
Kpna1	G	A	16: 35,841,058 (GRCm39)	G91D	probably benign	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Ltb4r2	C	T	14: 55,999,540 (GRCm39)	R54W	probably damaging	Het
Mki67	A	G	7: 135,299,643 (GRCm39)	F1797S	probably benign	Het
Mlh3	C	A	12: 85,315,192 (GRCm39)	Q331H	possibly damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Odad1	T	C	7: 45,596,903 (GRCm39)	L410P	probably damaging	Het
Or5b124	T	A	19: 13,610,830 (GRCm39)	Y118*	probably null	Het
Oxct2b	T	C	4: 123,010,601 (GRCm39)	Y174H	probably damaging	Het
Pakap	C	T	4: 57,855,618 (GRCm39)	Q559*	probably null	Het
Pclo	G	A	5: 14,725,327 (GRCm39)	R1395Q	unknown	Het
Ppara	A	G	15: 85,661,881 (GRCm39)	I41V	probably benign	Het
Ppip5k2	A	T	1: 97,657,753 (GRCm39)	I766K	probably damaging	Het
Ppm1j	A	G	3: 104,693,092 (GRCm39)	N483S	possibly damaging	Het
Prex2	T	C	1: 11,336,236 (GRCm39)	I1478T	probably benign	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rsl1d1	A	G	16: 11,019,175 (GRCm39)	V121A	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Slc15a1	T	C	14: 121,702,316 (GRCm39)	Q610R	probably null	Het
Slc1a6	A	G	10: 78,635,910 (GRCm39)	E325G	probably damaging	Het
Slc7a13	A	G	4: 19,839,305 (GRCm39)	I303V	probably benign	Het
Smc3	T	A	19: 53,630,362 (GRCm39)	V1123E	probably damaging	Het
Smco1	G	A	16: 32,092,023 (GRCm39)	V34I	probably benign	Het
Spag1	A	G	15: 36,197,949 (GRCm39)	R304G	probably benign	Het
Spata31f1e	A	T	4: 42,793,153 (GRCm39)	N326K	probably benign	Het
Spta1	A	G	1: 174,009,342 (GRCm39)	D293G	probably damaging	Het
Sspo	C	A	6: 48,440,639 (GRCm39)	P1751Q	probably damaging	Het
Syt14	A	T	1: 192,612,908 (GRCm39)	Y631N	probably damaging	Het
Taar3	A	G	10: 23,825,970 (GRCm39)	N172S	possibly damaging	Het
Tank	A	G	2: 61,480,427 (GRCm39)	E321G	probably damaging	Het
Tcstv5	T	G	13: 120,411,534 (GRCm39)	H24P	probably damaging	Het
Thbs1	C	A	2: 117,950,478 (GRCm39)	L704M	probably damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Togaram1	A	T	12: 65,013,320 (GRCm39)	E190D	probably damaging	Het
Traf1	A	C	2: 34,838,313 (GRCm39)	V175G	probably benign	Het
Trib3	A	T	2: 152,180,528 (GRCm39)	C222S	probably damaging	Het
Tsen34	T	A	7: 3,698,543 (GRCm39)	I229N	probably damaging	Het
Ttc28	A	G	5: 111,419,114 (GRCm39)	D1370G	probably benign	Het
Ugt1a5	G	A	1: 88,093,964 (GRCm39)	R64H	probably benign	Het
Vdac3	A	G	8: 23,078,759 (GRCm39)	V17A	possibly damaging	Het
Yif1b	C	T	7: 28,945,207 (GRCm39)	T220I	possibly damaging	Het
Zfp846	T	G	9: 20,504,591 (GRCm39)	H150Q	possibly damaging	Het
Zwilch	A	T	9: 64,068,665 (GRCm39)	H181Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCCTCAGATGGTGTTGAC -3'
(R):5'- GAACCAGCCAACAGTGACTG -3'

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

Posted On

2018-02-28