|Institutional Source||Beutler Lab|
|Gene Name||superoxide dismutase 2, mitochondrial|
|Synonyms||MnSOD, manganese superoxide dismutase, manganese SOD, Sod-2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6670 (G1)|
|Chromosomal Location||13007839-13018119 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 13008365 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 69 (Y69N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000007012 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000007012]|
|Predicted Effect||possibly damaging
AA Change: Y69N
PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: Y69N
|Meta Mutation Damage Score||0.3203|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mutations affect mitochondrial function. Null homozygotes die early with cardiomyopathy, tissue lipid accumulation, neurodegeneration, motor problems and/or metabolic acidosis depending on strain background. Heterozygotes show mitochondria and apoptosis defects with age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sod2||
(F):5'- CAATAATGTTGTGTCGGGCG -3'
(R):5'- CACAACAGTAAGGTCCGTCAAG -3'
(F):5'- TGTTCCTCTCAGCACGGG -3'
(R):5'- CAGTAAGGTCCGTCAAGTACTTTCG -3'