Incidental Mutation 'R6548:Sod2'
ID 521415
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 044673-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6548 (G1)
Quality Score 209.009
Status Validated
Chromosome 17
Chromosomal Location 13226726-13237006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13227250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 68 (K68R)
Ref Sequence ENSEMBL: ENSMUSP00000007012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007012]
AlphaFold P09671
Predicted Effect probably benign
Transcript: ENSMUST00000007012
AA Change: K68R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000007012
Gene: ENSMUSG00000006818
AA Change: K68R

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: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 93% (38/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T C 10: 43,050,769 (GRCm39) L21P probably damaging Het
Ank3 C T 10: 69,728,240 (GRCm39) A642V probably damaging Het
Bap1 A G 14: 30,978,182 (GRCm39) N349S probably benign Het
Brca1 G T 11: 101,415,591 (GRCm39) Q32K probably damaging Het
Ccdc39 A T 3: 33,892,108 (GRCm39) N121K probably benign Het
Champ1 A T 8: 13,930,002 (GRCm39) N720I probably damaging Het
Chd3 T A 11: 69,252,886 (GRCm39) R216* probably null Het
D630003M21Rik A G 2: 158,047,619 (GRCm39) probably null Het
Exoc2 A T 13: 31,010,047 (GRCm39) V804E possibly damaging Het
Fcgbp A G 7: 27,791,343 (GRCm39) N868S probably benign Het
Gm10376 T C 14: 42,873,025 (GRCm39) M1V probably null Het
Gpc2 G A 5: 138,275,533 (GRCm39) probably null Het
Gpr37 G A 6: 25,688,812 (GRCm39) T95I probably benign Het
Ints3 G A 3: 90,299,431 (GRCm39) probably benign Het
Krt28 T C 11: 99,257,839 (GRCm39) E334G probably damaging Het
Lrrc75a T A 11: 62,496,921 (GRCm39) T214S probably damaging Het
Lyar A G 5: 38,385,202 (GRCm39) I81V probably benign Het
Mon2 A T 10: 122,871,998 (GRCm39) L342Q probably damaging Het
Mug2 C T 6: 122,024,401 (GRCm39) A491V probably damaging Het
Myh2 A G 11: 67,077,438 (GRCm39) T858A probably benign Het
Net1 C T 13: 3,936,074 (GRCm39) probably null Het
Or52s1 T A 7: 102,861,111 (GRCm39) Y4N probably benign Het
Or5p76 T C 7: 108,122,423 (GRCm39) T245A probably benign Het
Platr25 A T 13: 62,821,623 (GRCm39) I110N possibly damaging Het
Plk5 T A 10: 80,198,879 (GRCm39) L412H probably damaging Het
Rasal1 A T 5: 120,812,790 (GRCm39) T605S probably benign Het
Ryr2 T A 13: 11,683,707 (GRCm39) D3119V probably damaging Het
Serpina1a G T 12: 103,820,017 (GRCm39) H387N probably benign Het
Serpina1d G T 12: 103,733,811 (GRCm39) N164K probably damaging Het
Smurf1 A G 5: 144,836,307 (GRCm39) Y69H probably damaging Het
Ssbp2 A G 13: 91,687,470 (GRCm39) N51S possibly damaging Het
Tcl1b1 A G 12: 105,130,663 (GRCm39) R49G probably benign Het
Tgfb1 A G 7: 25,396,350 (GRCm39) I214M probably benign Het
Tln1 A G 4: 43,547,525 (GRCm39) I812T probably damaging Het
Topaz1 T A 9: 122,577,419 (GRCm39) C110S possibly damaging Het
Ubap2l A G 3: 89,930,867 (GRCm39) F393L probably damaging Het
Vmn1r62 G A 7: 5,678,769 (GRCm39) G150D probably damaging Het
Wdr24 C A 17: 26,046,899 (GRCm39) Q651K probably damaging Het
Wdr7 A G 18: 63,911,322 (GRCm39) T905A possibly damaging Het
Zfyve26 A G 12: 79,285,109 (GRCm39) F2382S probably damaging 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
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
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'- CAATAATGTTGTGTCGGGCG -3'
(R):5'- AAGGTCCGTCAAGTACTTTCG -3'

Sequencing Primer
(F):5'- TGTTCCTCTCAGCACGGG -3'
(R):5'- CCGTCAAGTACTTTCGTGAGGTC -3'
Posted On 2018-06-06