Incidental Mutation 'R9767:Sod2'
ID 733351
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9767 (G1)
Quality Score 167.009
Status Not validated
Chromosome 17
Chromosomal Location 13226726-13237006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13227180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 45 (Q45K)
Ref Sequence ENSEMBL: ENSMUSP00000007012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007012]
AlphaFold P09671
Predicted Effect probably benign
Transcript: ENSMUST00000007012
AA Change: Q45K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000007012
Gene: ENSMUSG00000006818
AA Change: Q45K

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A T 3: 151,207,394 (GRCm39) M314L probably benign Het
Ank3 T C 10: 69,823,799 (GRCm39) S41P probably damaging Het
Aox4 A C 1: 58,274,357 (GRCm39) N381T probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Bpifb6 G A 2: 153,751,148 (GRCm39) probably null Het
Cep350 A G 1: 155,739,018 (GRCm39) V2275A probably benign Het
Cntn4 G A 6: 106,655,395 (GRCm39) G831E probably benign Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dchs2 A G 3: 83,212,206 (GRCm39) I2002V probably benign Het
Dennd2a G A 6: 39,483,709 (GRCm39) R384C probably damaging Het
Dock1 A G 7: 134,342,796 (GRCm39) T136A possibly damaging Het
Eif2s2 A T 2: 154,730,125 (GRCm39) D57E probably benign Het
Eml2 C T 7: 18,920,083 (GRCm39) T129I probably benign Het
Flad1 A C 3: 89,310,718 (GRCm39) I443S probably benign Het
Glis1 A T 4: 107,491,794 (GRCm39) T741S probably benign Het
Gpr156 A G 16: 37,818,297 (GRCm39) Y331C probably damaging Het
Lrwd1 C T 5: 136,162,856 (GRCm39) V122M possibly damaging Het
Ndufs2 G T 1: 171,068,643 (GRCm39) P89Q probably damaging Het
Nkx1-2 C T 7: 132,199,402 (GRCm39) V120I probably benign Het
Or2t35 C T 14: 14,407,929 (GRCm38) R234W probably damaging Het
Or7a41 T C 10: 78,870,765 (GRCm39) L45P possibly damaging Het
Pcdhga3 T A 18: 37,808,096 (GRCm39) I183N probably benign Het
Pkhd1 T C 1: 20,484,636 (GRCm39) D1973G probably benign Het
Ppp1r3a A G 6: 14,718,101 (GRCm39) S938P probably benign Het
Prss27 G T 17: 24,257,283 (GRCm39) M1I probably null Het
Rai14 T C 15: 10,610,127 (GRCm39) T74A probably benign Het
Rcc2 C T 4: 140,435,331 (GRCm39) R117W probably damaging Het
Rpl31 T A 1: 39,410,189 (GRCm39) *130R probably null Het
Rplp0 T C 5: 115,699,563 (GRCm39) S213P probably benign Het
Sdcbp2 T C 2: 151,429,057 (GRCm39) I152T probably damaging Het
Senp3 T C 11: 69,569,013 (GRCm39) T383A possibly damaging Het
Speg A T 1: 75,403,825 (GRCm39) I2669F possibly damaging Het
Stat4 T G 1: 52,141,653 (GRCm39) F577V probably damaging Het
Tex9 C A 9: 72,368,518 (GRCm39) E377* probably null Het
Tmprss15 A T 16: 78,875,977 (GRCm39) V119D probably damaging Het
Unc79 T C 12: 103,079,234 (GRCm39) S1800P probably benign Het
Vldlr A G 19: 27,212,274 (GRCm39) D96G probably damaging Het
Vmn2r51 G T 7: 9,839,407 (GRCm39) N60K probably benign Het
Vps13b A G 15: 35,910,403 (GRCm39) D3389G probably damaging Het
Vps13d C T 4: 144,879,306 (GRCm39) E1506K Het
Zfp1 A G 8: 112,396,203 (GRCm39) N75D 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
R8929:Sod2 UTSW 17 13,233,974 (GRCm39) missense probably damaging 1.00
R8931:Sod2 UTSW 17 13,227,193 (GRCm39) missense probably damaging 1.00
Z1088:Sod2 UTSW 17 13,232,425 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAATAATGTTGTGTCGGGCG -3'
(R):5'- GAACCAACGGAGGTATTCCC -3'

Sequencing Primer
(F):5'- GTGCAGGTGAGCGGCAG -3'
(R):5'- GGTATTCCCCGGCATCGAAAC -3'
Posted On 2022-11-14