Incidental Mutation 'R0765:Ndufv2'
ID 72632
Institutional Source Beutler Lab
Gene Symbol Ndufv2
Ensembl Gene ENSMUSG00000024099
Gene Name NADH:ubiquinone oxidoreductase core subunit V2
Synonyms 2900010C23Rik
MMRRC Submission 038945-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0765 (G1)
Quality Score 164
Status Validated
Chromosome 17
Chromosomal Location 66385790-66408554 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 66408073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024909] [ENSMUST00000143987] [ENSMUST00000147484]
AlphaFold Q9D6J6
Predicted Effect probably benign
Transcript: ENSMUST00000024909
SMART Domains Protein: ENSMUSP00000024909
Gene: ENSMUSG00000024099

DomainStartEndE-ValueType
Pfam:2Fe-2S_thioredx 1 112 1.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143987
SMART Domains Protein: ENSMUSP00000121557
Gene: ENSMUSG00000024099

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:2Fe-2S_thioredx 62 208 1.2e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147484
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.7%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,320,827 (GRCm39) V425D probably benign Het
Ano9 T G 7: 140,687,097 (GRCm39) I381L probably damaging Het
Apob C T 12: 8,066,518 (GRCm39) L4496F probably benign Het
Arhgef38 C T 3: 132,822,344 (GRCm39) E724K probably damaging Het
Atp8b4 T A 2: 126,214,070 (GRCm39) probably null Het
Baiap2l1 G T 5: 144,214,513 (GRCm39) P394T probably damaging Het
Btbd8 T A 5: 107,654,800 (GRCm39) D354E probably benign Het
Cnbp C A 6: 87,822,155 (GRCm39) C122F probably damaging Het
Col3a1 A G 1: 45,375,811 (GRCm39) probably benign Het
Colq T G 14: 31,247,994 (GRCm39) D408A possibly damaging Het
Cuzd1 A T 7: 130,917,824 (GRCm39) S259T probably benign Het
Cyp3a57 A G 5: 145,327,220 (GRCm39) probably benign Het
Dbn1 C A 13: 55,630,107 (GRCm39) V112F probably damaging Het
Dcc T A 18: 71,496,061 (GRCm39) D1028V probably damaging Het
Dnajb11 T C 16: 22,681,318 (GRCm39) V32A probably damaging Het
Dsg4 G A 18: 20,587,703 (GRCm39) probably benign Het
Dyrk1b C T 7: 27,885,136 (GRCm39) probably benign Het
Ebf1 T A 11: 44,759,987 (GRCm39) M208K probably damaging Het
Efhc1 A G 1: 21,048,876 (GRCm39) I430V probably benign Het
Elovl2 T C 13: 41,340,942 (GRCm39) Y181C probably benign Het
Fras1 A G 5: 96,700,655 (GRCm39) Q225R probably benign Het
Frmd3 G A 4: 74,080,004 (GRCm39) R332Q probably damaging Het
Glg1 A G 8: 111,886,429 (GRCm39) probably null Het
Hmcn1 G A 1: 150,684,538 (GRCm39) T344M probably damaging Het
Il1rap T G 16: 26,529,382 (GRCm39) probably null Het
Klra1 A T 6: 130,356,055 (GRCm39) probably benign Het
Larp7 C A 3: 127,339,814 (GRCm39) K289N probably damaging Het
Lgr6 C A 1: 134,921,624 (GRCm39) G240V probably benign Het
Lrp10 G T 14: 54,705,547 (GRCm39) D246Y probably damaging Het
Map3k20 G A 2: 72,202,269 (GRCm39) V167I probably damaging Het
Med23 T C 10: 24,776,608 (GRCm39) S347P probably damaging Het
Mybph T C 1: 134,125,234 (GRCm39) V254A possibly damaging Het
Nuf2 A T 1: 169,350,505 (GRCm39) probably benign Het
Nup210l T C 3: 90,027,184 (GRCm39) Y189H probably damaging Het
Or4c52 G A 2: 89,846,014 (GRCm39) V247I probably benign Het
Or51t4 C T 7: 102,597,939 (GRCm39) T79I probably damaging Het
Or5m13 T C 2: 85,749,049 (GRCm39) L260P probably damaging Het
Pdgfra C A 5: 75,348,648 (GRCm39) probably benign Het
Phlpp1 T C 1: 106,320,013 (GRCm39) L1336P probably damaging Het
Prpf38b T C 3: 108,818,734 (GRCm39) T9A possibly damaging Het
Rnf213 G A 11: 119,313,921 (GRCm39) probably null Het
Saal1 A T 7: 46,349,071 (GRCm39) V281E possibly damaging Het
Slc17a3 C T 13: 24,030,879 (GRCm39) Q186* probably null Het
Slc6a2 A G 8: 93,715,659 (GRCm39) T266A probably damaging Het
Snai2 T C 16: 14,524,668 (GRCm39) V58A possibly damaging Het
Srfbp1 T C 18: 52,623,507 (GRCm39) probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tesk1 C T 4: 43,446,706 (GRCm39) P365S possibly damaging Het
Tmem127 C A 2: 127,099,069 (GRCm39) T201K probably damaging Het
Trim17 T G 11: 58,862,195 (GRCm39) V409G possibly damaging Het
Trim43c C T 9: 88,723,969 (GRCm39) T165I probably benign Het
Ush2a C A 1: 188,680,771 (GRCm39) F4916L possibly damaging Het
Vmn1r89 A G 7: 12,953,467 (GRCm39) M68V probably benign Het
Vmn2r105 C T 17: 20,447,973 (GRCm39) E284K probably benign Het
Vmn2r105 T C 17: 20,448,119 (GRCm39) D235G probably damaging Het
Vmn2r-ps134 C T 17: 23,665,015 (GRCm39) noncoding transcript Het
Zdbf2 G A 1: 63,344,882 (GRCm39) S1087N possibly damaging Het
Zfp534 G A 4: 147,758,693 (GRCm39) P659S probably damaging Het
Other mutations in Ndufv2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Ndufv2 APN 17 66,396,466 (GRCm39) missense possibly damaging 0.95
IGL02445:Ndufv2 APN 17 66,387,889 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CAGTGCGGTTACTCGTGCTACTAC -3'
(R):5'- TAGCTTTTAGTCCTCGGAGACCCC -3'

Sequencing Primer
(F):5'- GTGCTACTACTATTCTCTCACGG -3'
(R):5'- TAGGCGCTGGACAGGTC -3'
Posted On 2013-09-30