Incidental Mutation 'R4928:Ndufv2'
ID 381055
Institutional Source Beutler Lab
Gene Symbol Ndufv2
Ensembl Gene ENSMUSG00000024099
Gene Name NADH dehydrogenase (ubiquinone) flavoprotein 2
MMRRC Submission 042529-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4928 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 66078795-66101559 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 66092658 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024909] [ENSMUST00000138847] [ENSMUST00000143987] [ENSMUST00000147484]
AlphaFold Q9D6J6
Predicted Effect probably benign
Transcript: ENSMUST00000024909
SMART Domains Protein: ENSMUSP00000024909
Gene: ENSMUSG00000024099

Pfam:2Fe-2S_thioredx 1 112 1.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138847
SMART Domains Protein: ENSMUSP00000137940
Gene: ENSMUSG00000024099

Pfam:2Fe-2S_thioredx 1 59 8.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143987
SMART Domains Protein: ENSMUSP00000121557
Gene: ENSMUSG00000024099

low complexity region 4 15 N/A INTRINSIC
Pfam:2Fe-2S_thioredx 62 208 1.2e-68 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000147484
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 98% (123/126)
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530021J07Rik G T 7: 83,155,878 (GRCm38) noncoding transcript Het
Aasdh T A 5: 76,896,688 (GRCm38) K118N possibly damaging Het
Abca14 A T 7: 120,324,580 (GRCm38) N1620I possibly damaging Het
Acap1 A T 11: 69,885,815 (GRCm38) S149T possibly damaging Het
Adgre1 T A 17: 57,444,064 (GRCm38) Y579* probably null Het
AI314180 A G 4: 58,827,073 (GRCm38) V1020A probably damaging Het
Aifm3 T C 16: 17,500,432 (GRCm38) probably benign Het
Aldh16a1 A G 7: 45,141,961 (GRCm38) W107R probably damaging Het
Amer2 A T 14: 60,379,445 (GRCm38) H363L possibly damaging Het
Arhgap10 A G 8: 77,426,328 (GRCm38) probably null Het
Arhgef6 A T X: 57,234,878 (GRCm38) D742E probably damaging Het
Astn2 A T 4: 65,729,407 (GRCm38) N731K probably damaging Het
Atp1a2 T C 1: 172,278,387 (GRCm38) T904A possibly damaging Het
Atr C T 9: 95,907,299 (GRCm38) R1503W probably damaging Het
Cdh3 G T 8: 106,536,610 (GRCm38) R97L probably benign Het
Chst2 C T 9: 95,406,006 (GRCm38) V96I probably benign Het
Cit T A 5: 115,985,797 (GRCm38) N1464K probably benign Het
Col17a1 A T 19: 47,670,458 (GRCm38) probably null Het
Col4a3 G A 1: 82,710,977 (GRCm38) probably benign Het
Copz1 T A 15: 103,291,330 (GRCm38) S57R probably damaging Het
Cpped1 A T 16: 11,828,279 (GRCm38) F227Y probably damaging Het
Cyp2j12 A T 4: 96,102,151 (GRCm38) probably null Het
Dctn1 T A 6: 83,189,207 (GRCm38) I195N possibly damaging Het
Dhrs7b A G 11: 60,851,925 (GRCm38) I148V probably benign Het
Dnah17 T C 11: 118,027,433 (GRCm38) D4096G probably damaging Het
Dnajc13 T C 9: 104,233,638 (GRCm38) N145D possibly damaging Het
Ercc6l2 T C 13: 63,894,813 (GRCm38) probably benign Het
Fads6 T G 11: 115,296,561 (GRCm38) I103L probably benign Het
Fam189a1 G T 7: 64,759,368 (GRCm38) S426* probably null Het
Fat4 T G 3: 39,010,465 (GRCm38) Y4857D probably damaging Het
Fbxl14 T A 6: 119,480,710 (GRCm38) L284Q probably damaging Het
Fkbp9 T C 6: 56,849,670 (GRCm38) V85A possibly damaging Het
Galnt13 T A 2: 54,516,565 (GRCm38) V9E probably damaging Het
Gm14412 A T 2: 177,314,580 (GRCm38) S507R probably benign Het
Gm15142 T A X: 154,638,419 (GRCm38) noncoding transcript Het
Gm4787 T C 12: 81,378,838 (GRCm38) E182G probably benign Het
Gm6811 C A 17: 21,094,631 (GRCm38) noncoding transcript Het
Gm9791 A T 3: 34,005,069 (GRCm38) noncoding transcript Het
Hoxb7 A T 11: 96,289,510 (GRCm38) probably null Het
Ift122 T A 6: 115,915,858 (GRCm38) probably benign Het
Krt28 C T 11: 99,374,632 (GRCm38) V70I probably benign Het
Lig1 T C 7: 13,298,738 (GRCm38) S459P probably damaging Het
Lrfn3 C T 7: 30,360,623 (GRCm38) R59H possibly damaging Het
Mavs T C 2: 131,246,743 (GRCm38) V489A probably benign Het
Mcm8 C T 2: 132,839,479 (GRCm38) P625L probably benign Het
Megf10 G T 18: 57,240,673 (GRCm38) R181L probably benign Het
Mgrn1 G A 16: 4,927,862 (GRCm38) G440D probably benign Het
Mllt3 T C 4: 87,782,405 (GRCm38) probably null Het
Muc5ac T A 7: 141,817,902 (GRCm38) Y2613* probably null Het
Myh14 C T 7: 44,635,502 (GRCm38) G662S probably benign Het
Myod1 T A 7: 46,377,050 (GRCm38) N126K probably damaging Het
Nae1 A T 8: 104,516,142 (GRCm38) H439Q possibly damaging Het
Narf T A 11: 121,244,939 (GRCm38) V136E possibly damaging Het
Ncapd3 T A 9: 27,071,735 (GRCm38) C926* probably null Het
Neb T C 2: 52,212,975 (GRCm38) S449G possibly damaging Het
Nek10 C T 14: 14,930,577 (GRCm38) P698L probably damaging Het
Nox3 T A 17: 3,635,275 (GRCm38) E566V probably null Het
Oas1a C T 5: 120,905,724 (GRCm38) R115H probably benign Het
Olfr1076 T A 2: 86,509,125 (GRCm38) L222H probably damaging Het
Olfr1130 C A 2: 87,608,143 (GRCm38) L252I probably benign Het
Olfr1152 A G 2: 87,868,230 (GRCm38) M80V probably benign Het
Olfr65 A G 7: 103,906,672 (GRCm38) T78A probably damaging Het
Pbld2 A G 10: 63,047,999 (GRCm38) H142R probably damaging Het
Pcdha4 C T 18: 36,954,816 (GRCm38) T684M probably benign Het
Phc3 G T 3: 30,950,919 (GRCm38) T175N probably damaging Het
Pigs G T 11: 78,329,002 (GRCm38) V68L probably damaging Het
Pik3c2g T A 6: 139,967,802 (GRCm38) D857E possibly damaging Het
Pitpnm3 G A 11: 72,063,172 (GRCm38) P550S probably damaging Het
Pla2g15 G A 8: 106,163,218 (GRCm38) W374* probably null Het
Ptpn14 G A 1: 189,822,642 (GRCm38) C133Y probably damaging Het
Ptpn20 A G 14: 33,614,489 (GRCm38) N95S probably benign Het
Ptrh2 G T 11: 86,690,036 (GRCm38) V160F probably damaging Het
Rapgef3 T C 15: 97,757,375 (GRCm38) D486G probably damaging Het
Rev3l T G 10: 39,823,985 (GRCm38) S1493A probably benign Het
Rgs9 T A 11: 109,225,744 (GRCm38) D411V probably benign Het
Rgsl1 A T 1: 153,793,768 (GRCm38) Y291N probably damaging Het
Rprd2 A G 3: 95,764,537 (GRCm38) Y1185H probably damaging Het
Rpusd3 A G 6: 113,416,206 (GRCm38) probably benign Het
Scnn1a T C 6: 125,322,173 (GRCm38) I72T probably damaging Het
Sdk1 A T 5: 141,857,003 (GRCm38) probably benign Het
Sfmbt2 T C 2: 10,445,745 (GRCm38) L277P probably benign Het
Sgf29 A G 7: 126,664,982 (GRCm38) E73G probably damaging Het
Slc12a6 T A 2: 112,352,961 (GRCm38) F764L probably damaging Het
Slc4a2 T C 5: 24,435,342 (GRCm38) probably null Het
Slc9a3 T G 13: 74,157,719 (GRCm38) V285G probably damaging Het
Slc9c1 A G 16: 45,575,409 (GRCm38) T608A probably benign Het
Slfnl1 C T 4: 120,535,685 (GRCm38) R325C probably damaging Het
Smarcad1 T A 6: 65,074,914 (GRCm38) F344I probably benign Het
Snrnp70 A T 7: 45,377,281 (GRCm38) probably null Het
Sod2 C T 17: 13,008,186 (GRCm38) T9M probably benign Het
Spag5 T A 11: 78,314,373 (GRCm38) S633T probably damaging Het
Spta1 A T 1: 174,191,056 (GRCm38) I531L probably benign Het
Stra8 A G 6: 34,933,156 (GRCm38) E60G probably benign Het
Sult2a3 T A 7: 14,111,557 (GRCm38) I126F probably benign Het
Syt1 T C 10: 108,504,512 (GRCm38) H315R possibly damaging Het
Tanc2 T C 11: 105,867,762 (GRCm38) L783P probably damaging Het
Thbs2 C T 17: 14,678,900 (GRCm38) C646Y probably damaging Het
Ticam2 T A 18: 46,560,922 (GRCm38) K33* probably null Het
Trim17 T C 11: 58,954,301 (GRCm38) probably benign Het
Tsr1 G A 11: 74,907,879 (GRCm38) M691I probably benign Het
Ttn T A 2: 76,762,419 (GRCm38) I20790F probably damaging Het
Tubb2b A T 13: 34,128,185 (GRCm38) Y208* probably null Het
Ubr1 T A 2: 120,914,938 (GRCm38) I890F probably damaging Het
Usp54 T C 14: 20,562,192 (GRCm38) E852G probably damaging Het
Vmn2r78 T C 7: 86,954,627 (GRCm38) V671A probably damaging Het
Wipi1 T C 11: 109,579,649 (GRCm38) K315E probably benign Het
Xrn2 T C 2: 147,051,718 (GRCm38) V735A possibly damaging Het
Zdbf2 T A 1: 63,308,814 (GRCm38) D2117E possibly damaging Het
Zfp287 A T 11: 62,714,136 (GRCm38) C648* probably null Het
Zfp369 A G 13: 65,296,800 (GRCm38) T586A possibly damaging Het
Other mutations in Ndufv2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Ndufv2 APN 17 66,089,471 (GRCm38) missense possibly damaging 0.95
IGL02445:Ndufv2 APN 17 66,080,894 (GRCm38) unclassified probably benign
IGL03293:Ndufv2 APN 17 66,083,449 (GRCm38) nonsense probably null
golden_loop UTSW 17 66,101,078 (GRCm38) intron probably benign
R0326:Ndufv2 UTSW 17 66,080,821 (GRCm38) missense probably damaging 1.00
R0765:Ndufv2 UTSW 17 66,101,078 (GRCm38) intron probably benign
R1800:Ndufv2 UTSW 17 66,083,486 (GRCm38) missense probably damaging 1.00
R5217:Ndufv2 UTSW 17 66,087,429 (GRCm38) missense probably damaging 1.00
R7475:Ndufv2 UTSW 17 66,087,537 (GRCm38) missense possibly damaging 0.93
R9061:Ndufv2 UTSW 17 66,083,480 (GRCm38) missense probably damaging 1.00
R9653:Ndufv2 UTSW 17 66,089,256 (GRCm38) nonsense probably null
R9764:Ndufv2 UTSW 17 66,087,508 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-15