Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02445:Ndufv2'

293574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ndufv2

Ensembl Gene

ENSMUSG00000024099

Gene Name

NADH:ubiquinone oxidoreductase core subunit V2

Synonyms

2900010C23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

66385790-66408554 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 66387889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024909] [ENSMUST00000038116] [ENSMUST00000143987] [ENSMUST00000150766]

AlphaFold

Q9D6J6

Predicted Effect

probably benign
Transcript: ENSMUST00000024909

SMART Domains

Protein: ENSMUSP00000024909
Gene: ENSMUSG00000024099

Domain	Start	End	E-Value	Type
Pfam:2Fe-2S_thioredx	1	112	1.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038116

SMART Domains

Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647

Domain	Start	End	E-Value	Type
low complexity region	102	119	N/A	INTRINSIC
ANK	184	213	8.78e-6	SMART
ANK	217	246	1.76e-5	SMART
ANK	250	279	7.64e-6	SMART
low complexity region	292	300	N/A	INTRINSIC
low complexity region	358	369	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC
coiled coil region	459	497	N/A	INTRINSIC
coiled coil region	639	676	N/A	INTRINSIC
coiled coil region	725	752	N/A	INTRINSIC
low complexity region	824	844	N/A	INTRINSIC
low complexity region	933	951	N/A	INTRINSIC
low complexity region	999	1018	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
low complexity region	1182	1197	N/A	INTRINSIC
low complexity region	1771	1783	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143516

Predicted Effect

probably benign
Transcript: ENSMUST00000143987

SMART Domains

Protein: ENSMUSP00000121557
Gene: ENSMUSG00000024099

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:2Fe-2S_thioredx	62	208	1.2e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150766

SMART Domains

Protein: ENSMUSP00000114237
Gene: ENSMUSG00000034647

Domain	Start	End	E-Value	Type
low complexity region	78	98	N/A	INTRINSIC
ANK	161	190	8.78e-6	SMART
ANK	194	223	1.76e-5	SMART
ANK	227	256	7.64e-6	SMART
low complexity region	269	277	N/A	INTRINSIC
low complexity region	335	346	N/A	INTRINSIC
low complexity region	380	393	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. This gene is a core subunit and is conserved in prokaryotes and eukaryotes. The bovine ortholog of this protein has been characterized and is reported to contain an iron-sulfur cluster, which may be involved in electron transfer. In humans mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a transposon induced allele may exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,383,198 (GRCm39)	T2127M	probably damaging	Het
Acp2	A	G	2: 91,036,606 (GRCm39)	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,798 (GRCm39)	L801P	probably damaging	Het
Adcy10	T	G	1: 165,398,313 (GRCm39)	V1470G	possibly damaging	Het
Ankar	T	G	1: 72,705,524 (GRCm39)	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,274,318 (GRCm39)	Y531C	probably benign	Het
Atm	T	C	9: 53,365,630 (GRCm39)	I2590V	probably benign	Het
Brme1	T	A	8: 84,886,137 (GRCm39)	M31K	probably benign	Het
Cblb	T	C	16: 51,986,668 (GRCm39)	L485P	probably damaging	Het
Col4a1	T	C	8: 11,283,911 (GRCm39)		probably benign	Het
Coprs	T	C	8: 13,935,797 (GRCm39)	K74R	possibly damaging	Het
Cul3	A	T	1: 80,281,886 (GRCm39)	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,033,463 (GRCm39)	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,735,456 (GRCm39)	V402L	probably damaging	Het
Disc1	T	A	8: 125,875,142 (GRCm39)		probably benign	Het
Dsg4	C	T	18: 20,579,307 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,963 (GRCm39)	Y442S	probably damaging	Het
Dtl	C	T	1: 191,290,172 (GRCm39)		probably null	Het
Ezh1	A	C	11: 101,101,513 (GRCm39)	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481 (GRCm39)	G100D	probably damaging	Het
Herc1	T	A	9: 66,340,764 (GRCm39)	H1704Q	possibly damaging	Het
Itprid2	G	A	2: 79,487,842 (GRCm39)	E642K	probably damaging	Het
Kif26a	T	C	12: 112,140,177 (GRCm39)	S469P	probably damaging	Het
Lefty1	T	C	1: 180,765,242 (GRCm39)	M270T	probably benign	Het
Nap1l3	A	T	X: 121,305,752 (GRCm39)	V322D	probably damaging	Het
Or14j5	A	T	17: 38,162,008 (GRCm39)	H175L	probably damaging	Het
Or4p18	G	A	2: 88,232,456 (GRCm39)	T274I	possibly damaging	Het
Or8b55	T	C	9: 38,726,901 (GRCm39)	I34T	possibly damaging	Het
Otol1	A	T	3: 69,935,367 (GRCm39)	D453V	probably damaging	Het
Papolb	G	A	5: 142,514,480 (GRCm39)	H388Y	probably benign	Het
Ppp1r10	A	G	17: 36,237,094 (GRCm39)	E128G	probably damaging	Het
Prss12	T	A	3: 123,280,669 (GRCm39)	D451E	probably damaging	Het
Psmc1	T	C	12: 100,081,087 (GRCm39)		probably benign	Het
Pygo1	T	A	9: 72,833,222 (GRCm39)	I10N	probably benign	Het
Rab31	C	T	17: 66,028,998 (GRCm39)		probably null	Het
Ret	G	A	6: 118,158,860 (GRCm39)	T184I	probably damaging	Het
Rhd	A	T	4: 134,611,481 (GRCm39)	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,834,682 (GRCm39)		probably benign	Het
Sec16a	A	G	2: 26,312,052 (GRCm39)	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,507,051 (GRCm39)	D335E	possibly damaging	Het
Taf6	A	G	5: 138,182,756 (GRCm39)		probably benign	Het
Tnk2	T	C	16: 32,494,408 (GRCm39)	V442A	probably benign	Het
Virma	A	G	4: 11,527,029 (GRCm39)	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,452,848 (GRCm39)	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,227,393 (GRCm39)		noncoding transcript	Het
Zfp473	A	G	7: 44,383,107 (GRCm39)	C408R	probably damaging	Het

Other mutations in Ndufv2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01651:Ndufv2	APN	17	66,396,466 (GRCm39)	missense	possibly damaging	0.95
IGL03293:Ndufv2	APN	17	66,390,444 (GRCm39)	nonsense	probably null
golden_loop	UTSW	17	66,408,073 (GRCm39)	intron	probably benign
R0326:Ndufv2	UTSW	17	66,387,816 (GRCm39)	missense	probably damaging	1.00
R0765:Ndufv2	UTSW	17	66,408,073 (GRCm39)	intron	probably benign
R1800:Ndufv2	UTSW	17	66,390,481 (GRCm39)	missense	probably damaging	1.00
R4928:Ndufv2	UTSW	17	66,399,653 (GRCm39)	splice site	probably null
R5217:Ndufv2	UTSW	17	66,394,424 (GRCm39)	missense	probably damaging	1.00
R7475:Ndufv2	UTSW	17	66,394,532 (GRCm39)	missense	possibly damaging	0.93
R9061:Ndufv2	UTSW	17	66,390,475 (GRCm39)	missense	probably damaging	1.00
R9653:Ndufv2	UTSW	17	66,396,251 (GRCm39)	nonsense	probably null
R9764:Ndufv2	UTSW	17	66,394,503 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16