Sod2 - SNV Details



 Gene Information 
Gene Name Sod2
Old Gene Names for Sod2 Sod-2
Gene Description superoxide dismutase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:98352]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; neuron development; response to cold; removal of superoxide radicals; response to L-ascorbic acid; response to lipopolysaccharide; response to nutrient levels; response to zinc ion; iron ion homeostasis; intrinsic apoptotic signaling pathway in response to oxidative stress; oxygen binding; mitochondrial nucleoid; vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure; superoxide metabolic process; response to superoxide; respiratory electron transport chain; cytoplasm; regulation of blood pressure; metal ion binding; negative regulation of apoptotic process; response to oxidative stress; liver development; negative regulation of fibroblast proliferation; response to selenium ion; response to electrical stimulus; mitochondrion organization; response to radiation; response to hyperoxia; vasodilation; superoxide dismutase activity; DNA binding; response to axon injury; release of cytochrome c from mitochondria; oxygen homeostasis; response to activity; intrinsic apoptotic signaling pathway in response to DNA damage; hydrogen peroxide biosynthetic process; apoptotic mitochondrial changes; regulation of transcription from RNA polymerase II promoter; response to hypoxia; manganese ion binding; protein binding; response to reactive oxygen species; negative regulation of cell proliferation; negative regulation of fat cell differentiation; response to gamma radiation; response to magnetism; protein homotetramerization; post-embryonic development; extracellular vesicular exosome; hemopoiesis; aging; mitochondrial inner membrane; age-dependent response to reactive oxygen species; response to drug; detection of oxygen; response to silicon dioxide; superoxide anion generation; protein homooligomerization; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway; regulation of mitochondrial membrane potential; positive regulation of nitric oxide biosynthetic process; response to manganese ion; response to cadmium ion; regulation of catalytic activity; response to isolation stress; age-dependent response to oxidative stress; identical protein binding; response to hydrogen peroxide; negative regulation of neuron apoptotic process; heart development; erythrophore differentiation; locomotory behavior; glutathione metabolic process; hydrogen peroxide metabolic process; response to immobilization stress; cellular response to ethanol
Homolog in other species SOD2
Omim http://omim.org/entry/147460
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000006818
Chromosome 17
Coordinate 13,008,370     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 20
Allele Frequency
C:R0.50
A:V0.50
Amino Acid Change H->Q (Histidine -> Glutamine)
Sample ID IGL03170
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved