Incidental Mutation 'R8929:Sod2'
ID 679768
Institutional Source Beutler Lab
Gene Symbol Sod2
Ensembl Gene ENSMUSG00000006818
Gene Name superoxide dismutase 2, mitochondrial
Synonyms Sod-2, manganese superoxide dismutase, manganese SOD, MnSOD
MMRRC Submission 068773-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8929 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 13226726-13237006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13233974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 195 (N195K)
Ref Sequence ENSEMBL: ENSMUSP00000007012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007012]
AlphaFold P09671
Predicted Effect probably damaging
Transcript: ENSMUST00000007012
AA Change: N195K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007012
Gene: ENSMUSG00000006818
AA Change: N195K

DomainStartEndE-ValueType
Pfam:Sod_Fe_N 25 106 1e-34 PFAM
Pfam:Sod_Fe_C 113 216 8.1e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
MGI Phenotype 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
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1 A G 2: 179,814,730 (GRCm39) K99E unknown Het
Agxt2 C A 15: 10,393,830 (GRCm39) L375I probably benign Het
Akap13 T C 7: 75,258,752 (GRCm39) S459P probably benign Het
Arfgef3 T A 10: 18,479,203 (GRCm39) T1471S probably damaging Het
Atxn2l C G 7: 126,092,928 (GRCm39) probably benign Het
Azi2 C A 9: 117,879,044 (GRCm39) T141K probably damaging Het
B4galt6 A G 18: 20,821,422 (GRCm39) S369P possibly damaging Het
BC051019 C T 7: 109,315,233 (GRCm39) E341K probably damaging Het
Bdh1 G A 16: 31,275,712 (GRCm39) D278N probably benign Het
Cdh1 ACTCGAAATGATGTGGCTC ACTC 8: 107,392,870 (GRCm39) probably benign Het
Cdipt T G 7: 126,578,825 (GRCm39) D205E probably damaging Het
Clec4b1 G T 6: 123,046,728 (GRCm39) probably null Het
Clip4 T C 17: 72,138,203 (GRCm39) L467S probably damaging Het
Cndp2 A G 18: 84,693,298 (GRCm39) I154T probably benign Het
Cyp2j5 T C 4: 96,546,977 (GRCm39) N179S possibly damaging Het
Dpf1 A T 7: 29,009,174 (GRCm39) I100F probably benign Het
Dppa5a A G 9: 78,275,165 (GRCm39) S46P probably benign Het
Epyc A G 10: 97,511,607 (GRCm39) D200G probably benign Het
Ern2 C T 7: 121,769,363 (GRCm39) A888T probably benign Het
Fndc3b C T 3: 27,596,253 (GRCm39) S112N probably damaging Het
Fras1 T C 5: 96,917,366 (GRCm39) V3462A probably damaging Het
Fstl5 T C 3: 76,615,138 (GRCm39) I733T probably damaging Het
Gdf3 C T 6: 122,586,756 (GRCm39) R57Q Het
Grwd1 A T 7: 45,480,056 (GRCm39) D50E probably damaging Het
Hgf G T 5: 16,798,988 (GRCm39) D339Y probably benign Het
Kat7 T C 11: 95,196,982 (GRCm39) D19G probably damaging Het
Lefty1 A G 1: 180,765,290 (GRCm39) E286G probably damaging Het
Lrriq3 T C 3: 154,893,819 (GRCm39) F507L probably damaging Het
Mcm4 T A 16: 15,448,289 (GRCm39) T423S probably benign Het
Metap1 T C 3: 138,174,643 (GRCm39) K247E probably benign Het
Muc4 T G 16: 32,575,285 (GRCm39) I1290S probably benign Het
Muc4 A T 16: 32,754,017 (GRCm38) T1298S possibly damaging Het
Nars1 G T 18: 64,644,895 (GRCm39) H82Q probably benign Het
Ncapg2 A T 12: 116,415,983 (GRCm39) E1121V probably damaging Het
Nebl C A 2: 17,397,991 (GRCm39) E481* probably null Het
Pdap1 T C 5: 145,069,672 (GRCm39) E111G probably damaging Het
Pds5b T C 5: 150,643,379 (GRCm39) F67S probably damaging Het
Pole T C 5: 110,445,654 (GRCm39) F510S probably damaging Het
Ptpn21 A T 12: 98,655,396 (GRCm39) Y524N probably damaging Het
Ptpn4 A T 1: 119,595,278 (GRCm39) M887K probably damaging Het
Sec24b T C 3: 129,803,507 (GRCm39) D414G possibly damaging Het
Sema5b C A 16: 35,467,737 (GRCm39) probably benign Het
Slain1 A T 14: 103,923,164 (GRCm39) T252S probably damaging Het
Slc36a3 A G 11: 55,028,137 (GRCm39) F164S probably damaging Het
Slc39a7 T C 17: 34,249,964 (GRCm39) H90R unknown Het
Slc44a4 A T 17: 35,136,508 (GRCm39) D58V probably damaging Het
Slc5a4a A G 10: 76,006,617 (GRCm39) T340A probably benign Het
Spart T C 3: 55,035,979 (GRCm39) S572P possibly damaging Het
Sytl2 C T 7: 90,024,810 (GRCm39) A266V probably benign Het
Tbx15 T A 3: 99,222,219 (GRCm39) D227E probably damaging Het
Tfap2a A G 13: 40,882,308 (GRCm39) V26A probably benign Het
Trank1 T A 9: 111,208,003 (GRCm39) F1749L possibly damaging Het
Trpc6 A G 9: 8,643,411 (GRCm39) probably benign Het
Ttn A T 2: 76,706,924 (GRCm39) I9089N unknown Het
Tut7 A G 13: 59,947,942 (GRCm39) V793A probably benign Het
Unc13a T C 8: 72,103,835 (GRCm39) T866A probably benign Het
Vmn1r212 T A 13: 23,067,494 (GRCm39) S280C possibly damaging Het
Vmn2r82 A G 10: 79,232,541 (GRCm39) T847A probably benign Het
Zer1 A G 2: 30,000,881 (GRCm39) L180P probably damaging Het
Zfp445 T G 9: 122,682,732 (GRCm39) Y403S probably benign Het
Other mutations in Sod2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Sod2 APN 17 13,232,464 (GRCm39) missense possibly damaging 0.83
IGL03170:Sod2 APN 17 13,227,257 (GRCm39) missense probably benign
R0735:Sod2 UTSW 17 13,229,451 (GRCm39) missense probably damaging 1.00
R1775:Sod2 UTSW 17 13,233,919 (GRCm39) missense probably damaging 0.96
R1909:Sod2 UTSW 17 13,234,056 (GRCm39) makesense probably null
R4928:Sod2 UTSW 17 13,227,073 (GRCm39) missense probably benign 0.30
R6083:Sod2 UTSW 17 13,226,918 (GRCm39) start gained probably benign
R6548:Sod2 UTSW 17 13,227,250 (GRCm39) missense probably benign 0.01
R6670:Sod2 UTSW 17 13,227,252 (GRCm39) missense possibly damaging 0.95
R7526:Sod2 UTSW 17 13,226,918 (GRCm39) start gained probably benign
R8816:Sod2 UTSW 17 13,227,253 (GRCm39) missense probably benign 0.08
R8931:Sod2 UTSW 17 13,227,193 (GRCm39) missense probably damaging 1.00
R9767:Sod2 UTSW 17 13,227,180 (GRCm39) missense probably benign 0.03
Z1088:Sod2 UTSW 17 13,232,425 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATCAGGGATTAAGCTTCTGTAG -3'
(R):5'- ACAGCACCCCAGTCATAGTG -3'

Sequencing Primer
(F):5'- AACTTGACCTTTCAGGGGC -3'
(R):5'- CAGTCATAGTGCTGCAATGC -3'
Posted On 2021-08-02