Incidental Mutation 'R9764:Ndufv2'
ID 733177
Institutional Source Beutler Lab
Gene Symbol Ndufv2
Ensembl Gene ENSMUSG00000024099
Gene Name NADH:ubiquinone oxidoreductase core subunit V2
Synonyms 2900010C23Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9764 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 66385790-66408554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66394503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 121 (Y121H)
Ref Sequence ENSEMBL: ENSMUSP00000121557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024909] [ENSMUST00000138847] [ENSMUST00000143987] [ENSMUST00000147484]
AlphaFold Q9D6J6
Predicted Effect probably damaging
Transcript: ENSMUST00000024909
AA Change: Y25H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024909
Gene: ENSMUSG00000024099
AA Change: Y25H

DomainStartEndE-ValueType
Pfam:2Fe-2S_thioredx 1 112 1.1e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138847
AA Change: Y25H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137940
Gene: ENSMUSG00000024099
AA Change: Y25H

DomainStartEndE-ValueType
Pfam:2Fe-2S_thioredx 1 59 8.9e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143987
AA Change: Y121H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121557
Gene: ENSMUSG00000024099
AA Change: Y121H

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:2Fe-2S_thioredx 62 208 1.2e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147484
AA Change: Y25H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,738 (GRCm39) T93A unknown Het
Adgrg6 T A 10: 14,302,515 (GRCm39) H938L probably benign Het
Aff1 A G 5: 103,997,365 (GRCm39) Y1153C probably damaging Het
Akr1c20 T A 13: 4,564,388 (GRCm39) I42L probably benign Het
Atad2b T A 12: 5,082,064 (GRCm39) N1324K probably benign Het
Aurka T A 2: 172,201,760 (GRCm39) I270F probably damaging Het
Camk2g A T 14: 20,815,498 (GRCm39) D189E probably damaging Het
Cc2d2b A G 19: 40,804,299 (GRCm39) D942G unknown Het
Ccnd1 A C 7: 144,491,770 (GRCm39) S90A probably benign Het
Cfap77 G T 2: 28,852,741 (GRCm39) T177K probably damaging Het
Chd9 A G 8: 91,721,220 (GRCm39) N1003D unknown Het
Chga C G 12: 102,525,613 (GRCm39) Q85E possibly damaging Het
Cnot1 T C 8: 96,496,209 (GRCm39) S322G probably benign Het
Cyp8b1 C A 9: 121,744,294 (GRCm39) S346I probably benign Het
Cysltr2 T A 14: 73,266,906 (GRCm39) H268L probably damaging Het
Dnah11 T C 12: 117,884,704 (GRCm39) T3783A probably benign Het
Dock3 C T 9: 106,959,713 (GRCm39) V109I probably benign Het
Dscc1 A G 15: 54,953,674 (GRCm39) C50R probably benign Het
Dtx3l T A 16: 35,753,277 (GRCm39) D443V probably damaging Het
Ephb6 A G 6: 41,592,911 (GRCm39) H383R probably benign Het
Fdft1 A G 14: 63,400,869 (GRCm39) I88T probably damaging Het
Fmo3 C A 1: 162,794,524 (GRCm39) W182L probably benign Het
Folh1 T A 7: 86,406,158 (GRCm39) Q305L probably benign Het
Gale C T 4: 135,692,975 (GRCm39) Q73* probably null Het
Gm9195 T C 14: 72,699,885 (GRCm39) M1154V unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gtsf1l T C 2: 162,929,052 (GRCm39) T144A probably benign Het
Itpkc T C 7: 26,927,222 (GRCm39) T231A probably benign Het
Kng2 C A 16: 22,822,737 (GRCm39) C205F probably damaging Het
Ldlrap1 T G 4: 134,476,661 (GRCm39) N244T probably benign Het
Lingo2 A G 4: 35,709,750 (GRCm39) F77L possibly damaging Het
Lpcat2b A T 5: 107,581,438 (GRCm39) T256S possibly damaging Het
Lrit2 A G 14: 36,790,936 (GRCm39) D205G probably damaging Het
Lrrc34 T C 3: 30,697,467 (GRCm39) D88G probably damaging Het
Macf1 T C 4: 123,366,136 (GRCm39) E2875G probably benign Het
Med13 G T 11: 86,177,345 (GRCm39) Q1584K possibly damaging Het
Naip5 C G 13: 100,367,269 (GRCm39) A276P probably damaging Het
Or4f52 T A 2: 111,061,521 (GRCm39) I206F probably damaging Het
Peg12 T C 7: 62,113,297 (GRCm39) T267A unknown Het
Pkig A G 2: 163,567,375 (GRCm39) probably null Het
Prkch C G 12: 73,747,078 (GRCm39) T319S probably benign Het
Rhobtb1 T C 10: 69,115,202 (GRCm39) S534P probably damaging Het
Riok2 A G 17: 17,607,814 (GRCm39) N454S probably benign Het
Ryr2 T A 13: 11,701,935 (GRCm39) K2907N possibly damaging Het
Sdc3 C T 4: 130,546,048 (GRCm39) P136S unknown Het
Slc37a3 G A 6: 39,322,844 (GRCm39) L371F probably damaging Het
Slc3a1 A T 17: 85,371,419 (GRCm39) H657L probably damaging Het
Slc7a13 T A 4: 19,819,033 (GRCm39) Y78N probably benign Het
Slfn8 G T 11: 82,907,838 (GRCm39) A235E probably damaging Het
Snap91 T A 9: 86,707,094 (GRCm39) D232V possibly damaging Het
Stap2 C A 17: 56,309,914 (GRCm39) S79I probably damaging Het
Stra6l T C 4: 45,884,602 (GRCm39) V544A probably damaging Het
Syn2 T C 6: 115,251,219 (GRCm39) probably null Het
Tctn1 G A 5: 122,388,527 (GRCm39) P284S possibly damaging Het
Terb2 G A 2: 122,018,475 (GRCm39) M77I probably benign Het
Trim80 G T 11: 115,338,757 (GRCm39) R529L possibly damaging Het
Washc2 T C 6: 116,186,048 (GRCm39) L86P possibly damaging Het
Zfp74 A T 7: 29,631,845 (GRCm39) F133Y probably benign Het
Zfp987 T A 4: 146,060,752 (GRCm39) N61K probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATGTATGGAGATGAAGCTTGCT -3'
(R):5'- GAACCATTTTGCCAGCCCAT -3'

Sequencing Primer
(F):5'- AGGTATCTCAAGACAGGGTTTC -3'
(R):5'- CAGGTGATGTGAACACTG -3'
Posted On 2022-11-14