|Institutional Source||Beutler Lab|
|Gene Name||superoxide dismutase 3, extracellular|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3934 (G1)|
|Chromosomal Location||52363791-52371418 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 52368645 bp|
|Amino Acid Change||Serine to Proline at position 229 (S229P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000098768 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000101208]|
|Predicted Effect||probably benign
AA Change: S229P
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: S229P
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to hyperoxia, increased LPS-stimulated spleen production of TNF, and enhanced severity of collagen-induced arthritis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sod3||
(F):5'- ACTTTGGCAACTTCGTGGTG -3'
(R):5'- TGGGTTAACTAAGGTGTCCTGGAC -3'
(F):5'- AACTTCGTGGTGCGCAAC -3'
(R):5'- CATCTGGGGGCCATACAGAG -3'