Incidental Mutation 'R0735:Sod2'
ID 68253
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 038916-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0735 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 13226726-13237006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13229451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 91 (N91Y)
Ref Sequence ENSEMBL: ENSMUSP00000007012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007012]
AlphaFold P09671
Predicted Effect probably damaging
Transcript: ENSMUST00000007012
AA Change: N91Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007012
Gene: ENSMUSG00000006818
AA Change: N91Y

DomainStartEndE-ValueType
Pfam:Sod_Fe_N 25 106 1e-34 PFAM
Pfam:Sod_Fe_C 113 216 8.1e-41 PFAM
Meta Mutation Damage Score 0.9614 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 91.8%
Validation Efficiency 95% (73/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T A 14: 29,711,669 (GRCm39) M405K probably benign Het
Adam10 G A 9: 70,655,533 (GRCm39) V334I possibly damaging Het
Adgra2 G T 8: 27,607,346 (GRCm39) G686C probably damaging Het
Akap11 A T 14: 78,747,518 (GRCm39) I1623N probably damaging Het
Astn1 A T 1: 158,299,959 (GRCm39) T100S possibly damaging Het
B3galt1 A C 2: 67,948,923 (GRCm39) I213L possibly damaging Het
B4galnt4 A G 7: 140,644,236 (GRCm39) K101E probably benign Het
Brd10 A T 19: 29,695,038 (GRCm39) I1552K possibly damaging Het
Camsap2 A G 1: 136,220,626 (GRCm39) S324P probably damaging Het
Chrnb4 A G 9: 54,951,084 (GRCm39) S60P probably damaging Het
Cpne1 A G 2: 155,920,670 (GRCm39) probably null Het
Cubn G A 2: 13,496,500 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cxcl15 T C 5: 90,949,153 (GRCm39) M106T probably benign Het
Cyp2c23 A T 19: 44,005,249 (GRCm39) M140K probably damaging Het
Dgke A G 11: 88,950,901 (GRCm39) F104S probably benign Het
Dhx36 T A 3: 62,380,150 (GRCm39) M849L probably benign Het
Dnah7a C T 1: 53,583,670 (GRCm39) E1522K possibly damaging Het
Edil3 G T 13: 89,325,297 (GRCm39) V219F probably damaging Het
Egln1 A G 8: 125,675,234 (GRCm39) V187A possibly damaging Het
Fam193a T C 5: 34,596,722 (GRCm39) I455T possibly damaging Het
Fdft1 A T 14: 63,400,869 (GRCm39) I88N probably damaging Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Frs2 T A 10: 116,910,487 (GRCm39) S292C probably damaging Het
Gpr107 T A 2: 31,062,006 (GRCm39) F145I probably benign Het
Gpr153 T A 4: 152,363,830 (GRCm39) C83* probably null Het
H2-Q7 T G 17: 35,659,162 (GRCm39) probably null Het
Hsp90b1 A T 10: 86,531,612 (GRCm39) probably benign Het
Kcnk1 C A 8: 126,752,028 (GRCm39) N211K probably damaging Het
Klb T C 5: 65,537,070 (GRCm39) V800A probably benign Het
Lat2 T C 5: 134,635,637 (GRCm39) Y59C probably damaging Het
Mlkl A T 8: 112,054,433 (GRCm39) probably benign Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mtbp T A 15: 55,426,338 (GRCm39) C93* probably null Het
Myo7a A G 7: 97,730,387 (GRCm39) probably benign Het
Myt1 G A 2: 181,449,180 (GRCm39) probably benign Het
Ogfrl1 T C 1: 23,414,835 (GRCm39) Q224R possibly damaging Het
Or10j2 A G 1: 173,098,569 (GRCm39) T276A probably benign Het
Or56b2 A T 7: 104,338,026 (GRCm39) H268L probably damaging Het
Osbpl2 A G 2: 179,792,083 (GRCm39) probably benign Het
Pira13 T C 7: 3,824,781 (GRCm39) T533A possibly damaging Het
Plb1 C T 5: 32,442,264 (GRCm39) T252M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn T C 6: 92,166,674 (GRCm39) T657A probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rps6kb2 C A 19: 4,207,882 (GRCm39) S348I probably benign Het
Rsrp1 C T 4: 134,651,568 (GRCm39) R111W unknown Het
Ryr3 T C 2: 112,563,327 (GRCm39) T2933A probably benign Het
Scara5 A G 14: 65,968,468 (GRCm39) D247G possibly damaging Het
Slc7a11 C T 3: 50,378,545 (GRCm39) S231N probably benign Het
Spesp1 A T 9: 62,179,967 (GRCm39) S314T probably benign Het
St3gal1 C A 15: 66,985,536 (GRCm39) M39I probably benign Het
Stat6 A T 10: 127,494,110 (GRCm39) I646F probably damaging Het
Tdrd1 A T 19: 56,854,410 (GRCm39) K1119* probably null Het
Thbs2 A G 17: 14,900,077 (GRCm39) I600T probably benign Het
Tor1a A G 2: 30,853,850 (GRCm39) V160A probably damaging Het
Trdmt1 T G 2: 13,528,249 (GRCm39) D104A probably benign Het
Trim58 T C 11: 58,542,219 (GRCm39) V393A probably benign Het
Trip4 C T 9: 65,792,200 (GRCm39) probably benign Het
Trip6 T C 5: 137,309,083 (GRCm39) E341G probably benign Het
Ttn T A 2: 76,545,539 (GRCm39) I32595F probably damaging Het
Ubr4 T A 4: 139,155,339 (GRCm39) probably null Het
Ush2a G A 1: 188,596,890 (GRCm39) V3877I probably benign Het
Vmn1r29 G T 6: 58,284,717 (GRCm39) G146C probably damaging Het
Vmn2r53 A G 7: 12,315,707 (GRCm39) V704A probably benign Het
Vmn2r7 C T 3: 64,623,788 (GRCm39) M268I probably benign Het
Wnt7b G A 15: 85,421,696 (GRCm39) T248M probably damaging Het
Xab2 G A 8: 3,663,649 (GRCm39) P394S possibly damaging Het
Zfp663 A G 2: 165,200,995 (GRCm39) V13A 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
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
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'- TGAAGCAGGGGAATAGCCCAGT -3'
(R):5'- GGCAGTCAATAGGTACATACTTTGGCAT -3'

Sequencing Primer
(F):5'- GTGACATCTGGCATCTAGAAAAC -3'
(R):5'- tcacaaccacccgtaatgag -3'
Posted On 2013-09-03