|Institutional Source||Beutler Lab|
|Gene Name||NADH dehydrogenase (ubiquinone) flavoprotein 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4928 (G1)|
|Chromosomal Location||66078795-66101559 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||C to A at 66092658 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000115317 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024909] [ENSMUST00000138847] [ENSMUST00000143987] [ENSMUST00000147484]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||98% (123/126)|
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||
|Other mutations in Ndufv2||
(F):5'- GTGTCACAGCTATGCACAAATAGTC -3'
(R):5'- GCACTTAGTCTCTCTGGTAGCC -3'
(F):5'- GATAGAGTCTCTATATGTAGCCCAAG -3'
(R):5'- TGGTAGCCAGTCCCATGCTTG -3'