Incidental Mutation 'R9322:Cat'
ID 706251
Institutional Source Beutler Lab
Gene Symbol Cat
Ensembl Gene ENSMUSG00000027187
Gene Name catalase
Synonyms Cas1, Cs-1, Cas-1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9322 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 103284249-103315498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103303333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 148 (N148S)
Ref Sequence ENSEMBL: ENSMUSP00000028610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028610] [ENSMUST00000111168]
AlphaFold P24270
Predicted Effect probably damaging
Transcript: ENSMUST00000028610
AA Change: N148S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187
AA Change: N148S

DomainStartEndE-ValueType
Catalase 28 413 4.7e-285 SMART
Pfam:Catalase-rel 434 497 5.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111168
SMART Domains Protein: ENSMUSP00000106798
Gene: ENSMUSG00000027187

DomainStartEndE-ValueType
Catalase 28 176 2.33e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a generally normal phenotype although subtle abnormalities do occur in mitochondrial respiration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,192,331 (GRCm39) V727A probably damaging Het
Arhgef33 T A 17: 80,677,818 (GRCm39) L455* probably null Het
Arnt T C 3: 95,397,929 (GRCm39) S591P probably benign Het
Asic4 A G 1: 75,446,462 (GRCm39) M335V probably benign Het
Atp1a2 A G 1: 172,107,625 (GRCm39) S665P possibly damaging Het
Ccdc121rt3 T A 5: 112,503,272 (GRCm39) Y144F probably damaging Het
Ccdc9 T C 7: 16,012,360 (GRCm39) D274G probably damaging Het
Ciao3 G C 17: 25,998,548 (GRCm39) Q217H probably damaging Het
Csnk1g2 T C 10: 80,474,978 (GRCm39) Y332H probably damaging Het
Csrnp1 T C 9: 119,801,853 (GRCm39) E402G probably damaging Het
Dchs2 T A 3: 83,189,001 (GRCm39) I1455N possibly damaging Het
Dnah12 A T 14: 26,492,934 (GRCm39) I1232F possibly damaging Het
Dsn1 C T 2: 156,843,669 (GRCm39) V144I possibly damaging Het
Efcab3 A T 11: 104,765,199 (GRCm39) E2501V probably benign Het
Epha6 A T 16: 60,245,118 (GRCm39) S360R probably damaging Het
Fasl A T 1: 161,609,512 (GRCm39) L158Q probably damaging Het
Filip1 A T 9: 79,727,014 (GRCm39) V535E probably benign Het
Fmo5 A T 3: 97,546,190 (GRCm39) K168* probably null Het
Gm5157 T G 7: 20,919,431 (GRCm39) K37N probably benign Het
Grm8 T A 6: 27,363,728 (GRCm39) I596F possibly damaging Het
Il23a T C 10: 128,132,990 (GRCm39) E123G probably benign Het
Itpr2 T C 6: 146,226,587 (GRCm39) T1386A probably benign Het
Krt79 T A 15: 101,840,245 (GRCm39) Q317L possibly damaging Het
Lhx4 A G 1: 155,578,353 (GRCm39) I263T probably benign Het
Med4 T C 14: 73,747,601 (GRCm39) L34P probably damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Mief2 A T 11: 60,621,844 (GRCm39) H138L possibly damaging Het
Nat3 A T 8: 68,000,162 (GRCm39) K14* probably null Het
Nbeal1 T A 1: 60,297,818 (GRCm39) I1216N possibly damaging Het
Nlrp1b T C 11: 71,108,118 (GRCm39) E461G probably benign Het
Or11h23 C A 14: 50,948,507 (GRCm39) T240N probably damaging Het
Or5aq7 T C 2: 86,938,561 (GRCm39) T57A probably damaging Het
Or5p4 C T 7: 107,680,727 (GRCm39) T242M probably damaging Het
Pdha2 C A 3: 140,916,550 (GRCm39) M319I probably benign Het
Pik3r2 A G 8: 71,227,494 (GRCm39) V43A possibly damaging Het
Psd T A 19: 46,301,880 (GRCm39) E902V probably damaging Het
Psme3 A C 11: 101,211,437 (GRCm39) H198P probably damaging Het
Rlbp1 T C 7: 79,027,003 (GRCm39) D219G possibly damaging Het
Scn1b C A 7: 30,824,517 (GRCm39) W57L probably damaging Het
Sfrp2 T C 3: 83,674,006 (GRCm39) I53T probably damaging Het
Skic2 T C 17: 35,066,439 (GRCm39) probably null Het
Slc18a3 A G 14: 32,185,282 (GRCm39) I367T probably benign Het
Slc44a2 A T 9: 21,258,246 (GRCm39) R499W probably damaging Het
St18 A G 1: 6,865,747 (GRCm39) D75G probably benign Het
Trim67 C A 8: 125,549,967 (GRCm39) Y532* probably null Het
Ttc16 C T 2: 32,664,952 (GRCm39) probably benign Het
Usp7 A T 16: 8,517,124 (GRCm39) S487T probably damaging Het
Vmn2r104 T C 17: 20,263,087 (GRCm39) T125A probably benign Het
Vmn2r70 T C 7: 85,208,498 (GRCm39) T660A possibly damaging Het
Zer1 A T 2: 30,000,923 (GRCm39) V166D probably benign Het
Other mutations in Cat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02989:Cat APN 2 103,303,318 (GRCm39) missense probably damaging 1.00
PIT4696001:Cat UTSW 2 103,302,157 (GRCm39) missense probably damaging 0.99
R1968:Cat UTSW 2 103,315,334 (GRCm39) missense probably benign 0.01
R2103:Cat UTSW 2 103,293,660 (GRCm39) missense probably damaging 1.00
R2655:Cat UTSW 2 103,302,191 (GRCm39) missense probably damaging 1.00
R3037:Cat UTSW 2 103,298,122 (GRCm39) missense probably benign 0.07
R5287:Cat UTSW 2 103,304,705 (GRCm39) missense probably damaging 1.00
R5527:Cat UTSW 2 103,303,318 (GRCm39) missense probably damaging 1.00
R5694:Cat UTSW 2 103,303,339 (GRCm39) missense probably damaging 1.00
R6089:Cat UTSW 2 103,303,296 (GRCm39) missense probably null 0.48
R6177:Cat UTSW 2 103,303,420 (GRCm39) missense probably damaging 1.00
R6281:Cat UTSW 2 103,302,114 (GRCm39) missense probably damaging 1.00
R6294:Cat UTSW 2 103,290,640 (GRCm39) missense probably benign
R7058:Cat UTSW 2 103,304,698 (GRCm39) missense probably benign 0.31
R7274:Cat UTSW 2 103,307,235 (GRCm39) missense probably benign 0.07
R7347:Cat UTSW 2 103,293,643 (GRCm39) missense probably benign
R7654:Cat UTSW 2 103,290,709 (GRCm39) missense probably damaging 1.00
R7762:Cat UTSW 2 103,287,203 (GRCm39) missense probably benign
R8497:Cat UTSW 2 103,287,221 (GRCm39) missense probably damaging 0.96
R9201:Cat UTSW 2 103,304,754 (GRCm39) missense possibly damaging 0.64
R9561:Cat UTSW 2 103,307,250 (GRCm39) missense probably damaging 0.99
R9593:Cat UTSW 2 103,285,433 (GRCm39) missense probably benign 0.10
R9749:Cat UTSW 2 103,285,445 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGACAAATCTAAGGCCAATGGT -3'
(R):5'- AGATGCTAGGTTTCTCTGTGATT -3'

Sequencing Primer
(F):5'- TGGACTGAACCTCTGCAACTGTAAG -3'
(R):5'- TTTATGGTTTCTTGAATGCAATATGC -3'
Posted On 2022-04-18