Incidental Mutation 'R0646:Sod3'
ID 57140
Institutional Source Beutler Lab
Gene Symbol Sod3
Ensembl Gene ENSMUSG00000072941
Gene Name superoxide dismutase 3, extracellular
Synonyms EC-SOD
MMRRC Submission 038831-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0646 (G1)
Quality Score 220
Status Validated
Chromosome 5
Chromosomal Location 52521146-52527080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52525421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 40 (D40V)
Ref Sequence ENSEMBL: ENSMUSP00000098768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101208]
AlphaFold O09164
Predicted Effect probably benign
Transcript: ENSMUST00000101208
AA Change: D40V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000098768
Gene: ENSMUSG00000072941
AA Change: D40V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Sod_Cu 85 224 1.5e-32 PFAM
low complexity region 233 251 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (123/130)
MGI Phenotype 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
Total: 125 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik C T 7: 29,260,710 (GRCm39) noncoding transcript Het
Abcb11 A G 2: 69,115,627 (GRCm39) I579T probably damaging Het
Abcc9 T C 6: 142,627,830 (GRCm39) N400S probably benign Het
Adarb2 T C 13: 8,781,855 (GRCm39) L577P probably damaging Het
Agt A C 8: 125,283,852 (GRCm39) N422K probably damaging Het
Ahnak A T 19: 8,990,766 (GRCm39) K4017* probably null Het
Akap13 C A 7: 75,397,494 (GRCm39) Q2575K probably damaging Het
Aldh3a2 A T 11: 61,144,541 (GRCm39) I339K probably damaging Het
Alox15 G T 11: 70,236,450 (GRCm39) Y483* probably null Het
Ampd1 A T 3: 103,006,913 (GRCm39) I713F probably damaging Het
Amph A T 13: 19,297,286 (GRCm39) E344V possibly damaging Het
Arhgef18 T C 8: 3,436,959 (GRCm39) Y250H probably damaging Het
Arid5b A G 10: 67,932,807 (GRCm39) S1032P probably damaging Het
Armc8 C A 9: 99,387,741 (GRCm39) L393F probably damaging Het
Bpnt1 A G 1: 185,077,623 (GRCm39) probably null Het
Cachd1 G A 4: 100,845,418 (GRCm39) R970H probably damaging Het
Cd207 T C 6: 83,652,738 (GRCm39) T131A probably benign Het
Cd83 G A 13: 43,951,009 (GRCm39) V54I probably benign Het
Cfap43 T C 19: 47,752,115 (GRCm39) K1086E probably benign Het
Cfap65 A T 1: 74,941,328 (GRCm39) V1837E probably benign Het
Clcnka T A 4: 141,123,917 (GRCm39) H89L probably benign Het
Cnga4 T C 7: 105,054,182 (GRCm39) I50T possibly damaging Het
Cog5 A G 12: 31,887,358 (GRCm39) probably benign Het
Col11a2 T A 17: 34,278,322 (GRCm39) probably null Het
Col28a1 T G 6: 8,175,291 (GRCm39) I186L possibly damaging Het
Col4a2 T A 8: 11,481,252 (GRCm39) M808K probably benign Het
Copb2 A G 9: 98,445,528 (GRCm39) probably benign Het
Dbnl G A 11: 5,745,441 (GRCm39) probably benign Het
Dbx2 T C 15: 95,552,493 (GRCm39) T51A possibly damaging Het
Dcp1a A T 14: 30,224,842 (GRCm39) M123L probably damaging Het
Ddx42 T A 11: 106,123,659 (GRCm39) F217I probably benign Het
Dlc1 T C 8: 37,325,205 (GRCm39) T367A probably benign Het
Dmgdh A T 13: 93,888,863 (GRCm39) T834S probably benign Het
Dnah8 T C 17: 30,903,147 (GRCm39) S929P probably damaging Het
Dnase1l2 C A 17: 24,660,056 (GRCm39) V271L possibly damaging Het
Dsc1 T C 18: 20,229,114 (GRCm39) Y392C probably damaging Het
Edn1 T C 13: 42,458,718 (GRCm39) probably benign Het
Efcab3 G A 11: 104,611,327 (GRCm39) D390N probably benign Het
Eps8l3 T C 3: 107,792,126 (GRCm39) L351P probably damaging Het
F12 G A 13: 55,570,296 (GRCm39) probably benign Het
Fam47e T C 5: 92,726,317 (GRCm39) probably benign Het
Fcrl5 C A 3: 87,349,320 (GRCm39) Q32K probably benign Het
Fndc1 C T 17: 7,960,505 (GRCm39) V1637I possibly damaging Het
Foxg1 G T 12: 49,431,350 (GRCm39) probably benign Het
Frrs1 A T 3: 116,696,070 (GRCm39) I530F possibly damaging Het
Galnt5 A T 2: 57,889,097 (GRCm39) K232N probably benign Het
Ggt5 G A 10: 75,438,482 (GRCm39) V68M probably damaging Het
Gm16519 T C 17: 71,236,101 (GRCm39) C17R probably benign Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Gm9631 T G 11: 121,836,455 (GRCm39) D28A probably damaging Het
Gpx2 T C 12: 76,842,087 (GRCm39) I21M probably benign Het
H2-Q2 T G 17: 35,564,661 (GRCm39) D354E probably damaging Het
Icam2 A T 11: 106,271,717 (GRCm39) I71K probably damaging Het
Il12a T C 3: 68,605,223 (GRCm39) probably benign Het
Insm2 C G 12: 55,647,225 (GRCm39) A323G probably benign Het
Itga1 T C 13: 115,104,835 (GRCm39) T1064A probably benign Het
Itgad T A 7: 127,773,176 (GRCm39) V11E possibly damaging Het
Kctd15 C T 7: 34,344,306 (GRCm39) S115N probably damaging Het
Klra5 A G 6: 129,880,527 (GRCm39) W124R probably damaging Het
Kng2 T A 16: 22,806,486 (GRCm39) D571V probably benign Het
Kpna6 A T 4: 129,544,583 (GRCm39) F380I probably benign Het
Lipo3 A T 19: 33,762,169 (GRCm39) Y109* probably null Het
Lrrc37 T A 11: 103,503,986 (GRCm39) K485* probably null Het
Man2a2 T C 7: 80,012,945 (GRCm39) H540R possibly damaging Het
Map2k4 T C 11: 65,603,101 (GRCm39) E188G probably damaging Het
Mast4 T C 13: 102,895,252 (GRCm39) probably benign Het
Mbtd1 A G 11: 93,796,038 (GRCm39) D25G probably damaging Het
Med13 T A 11: 86,221,915 (GRCm39) Q238L possibly damaging Het
Mmachc A G 4: 116,560,851 (GRCm39) Y215H probably damaging Het
Mtor T A 4: 148,568,811 (GRCm39) Y1110* probably null Het
Nek2 A G 1: 191,554,331 (GRCm39) N57D probably damaging Het
Nek7 ACCCC ACCC 1: 138,443,431 (GRCm39) probably null Het
Neo1 G T 9: 58,838,317 (GRCm39) T489K probably damaging Het
Neu1 T A 17: 35,153,736 (GRCm39) Y387N probably damaging Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nle1 G A 11: 82,795,671 (GRCm39) L259F probably damaging Het
Nrde2 G A 12: 100,110,105 (GRCm39) Q309* probably null Het
Nufip2 C T 11: 77,577,279 (GRCm39) H76Y probably benign Het
Or10ak16 A C 4: 118,750,687 (GRCm39) T136P probably damaging Het
Or2y13 A T 11: 49,415,405 (GRCm39) N285I probably damaging Het
Or4k6 A T 14: 50,476,096 (GRCm39) I82N probably damaging Het
Or52e18 A T 7: 104,609,018 (GRCm39) I307N probably benign Het
Or52r1c T C 7: 102,735,358 (GRCm39) F206S probably damaging Het
Or9s18 A T 13: 65,300,877 (GRCm39) I280F probably damaging Het
Pcdhb5 A G 18: 37,454,675 (GRCm39) T352A probably benign Het
Pcdhb7 A T 18: 37,476,442 (GRCm39) D526V probably damaging Het
Phkg1 A T 5: 129,893,394 (GRCm39) probably null Het
Plg C T 17: 12,637,623 (GRCm39) T744M probably damaging Het
Plxnd1 A C 6: 115,935,660 (GRCm39) probably benign Het
Poglut1 A T 16: 38,349,837 (GRCm39) I312N probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ppt1 A G 4: 122,737,892 (GRCm39) M77V probably benign Het
Pramel26 A C 4: 143,539,155 (GRCm39) S113A possibly damaging Het
Pramel5 G T 4: 143,998,190 (GRCm39) T351N probably damaging Het
Psmb4 G A 3: 94,792,275 (GRCm39) R216C probably benign Het
Ptprd T C 4: 76,002,640 (GRCm39) T699A probably damaging Het
Retreg3 A T 11: 100,989,455 (GRCm39) probably benign Het
Sanbr C T 11: 23,525,491 (GRCm39) R716H probably damaging Het
Scaper G A 9: 55,665,340 (GRCm39) A389V probably damaging Het
Serinc5 G A 13: 92,825,245 (GRCm39) D225N possibly damaging Het
Slco1a1 T G 6: 141,871,480 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorcs3 C A 19: 48,194,734 (GRCm39) A39E probably benign Het
Spon1 A T 7: 113,639,056 (GRCm39) T761S probably benign Het
Syde2 A G 3: 145,720,004 (GRCm39) probably null Het
Synm T A 7: 67,408,916 (GRCm39) D154V probably benign Het
Synpo2 T C 3: 122,908,098 (GRCm39) E406G probably damaging Het
Tcea3 T A 4: 135,975,382 (GRCm39) L8* probably null Het
Tec G A 5: 72,980,840 (GRCm39) L33F probably damaging Het
Tex15 T A 8: 34,072,354 (GRCm39) S2634T possibly damaging Het
Tg T A 15: 66,601,475 (GRCm39) Y162N probably damaging Het
Tmem8b G A 4: 43,690,123 (GRCm39) V853I probably benign Het
Togaram1 A G 12: 65,068,240 (GRCm39) K1748E probably damaging Het
Ttn T C 2: 76,728,822 (GRCm39) probably benign Het
Usp36 C T 11: 118,163,847 (GRCm39) D234N probably damaging Het
Usp40 G A 1: 87,906,244 (GRCm39) P664S probably benign Het
Vmn1r54 T A 6: 90,246,635 (GRCm39) L183H probably benign Het
Vmn1r58 T G 7: 5,413,676 (GRCm39) I185L probably benign Het
Wnt8a A T 18: 34,680,618 (GRCm39) R328W probably benign Het
Yars1 A G 4: 129,107,732 (GRCm39) probably benign Het
Zbtb49 A C 5: 38,358,018 (GRCm39) M745R probably damaging Het
Zeb1 T G 18: 5,759,027 (GRCm39) F162V probably damaging Het
Zfp369 A T 13: 65,445,362 (GRCm39) H835L probably damaging Het
Zic5 A G 14: 122,701,351 (GRCm39) V460A unknown Het
Zp3 A G 5: 136,013,210 (GRCm39) N181D possibly damaging Het
Other mutations in Sod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Sod3 APN 5 52,525,540 (GRCm39) nonsense probably null
IGL02894:Sod3 APN 5 52,525,348 (GRCm39) missense possibly damaging 0.70
R1822:Sod3 UTSW 5 52,525,504 (GRCm39) missense probably benign 0.07
R1823:Sod3 UTSW 5 52,525,504 (GRCm39) missense probably benign 0.07
R1824:Sod3 UTSW 5 52,525,504 (GRCm39) missense probably benign 0.07
R3872:Sod3 UTSW 5 52,525,631 (GRCm39) missense probably damaging 0.98
R3934:Sod3 UTSW 5 52,525,987 (GRCm39) missense probably benign 0.00
R4969:Sod3 UTSW 5 52,525,736 (GRCm39) missense probably damaging 1.00
R6899:Sod3 UTSW 5 52,526,050 (GRCm39) missense unknown
R7773:Sod3 UTSW 5 52,525,643 (GRCm39) missense possibly damaging 0.94
R8964:Sod3 UTSW 5 52,525,696 (GRCm39) missense probably damaging 1.00
R9779:Sod3 UTSW 5 52,525,435 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- GGACATTCCACAGGTGCAGAGAAC -3'
(R):5'- ACCACGAAGTTGCCAAAGTCGC -3'

Sequencing Primer
(F):5'- CAGGTGCAGAGAACCTCAGC -3'
(R):5'- CACCTCCATCGGGTTGTAGTG -3'
Posted On 2013-07-11