Incidental Mutation 'R9593:Cat'
ID 723080
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 # R9593 (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 103285433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 503 (E503G)
Ref Sequence ENSEMBL: ENSMUSP00000028610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028609] [ENSMUST00000028610] [ENSMUST00000111168] [ENSMUST00000164172]
AlphaFold P24270
Predicted Effect probably benign
Transcript: ENSMUST00000028609
SMART Domains Protein: ENSMUSP00000028609
Gene: ENSMUSG00000027186

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028610
AA Change: E503G

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187
AA Change: E503G

DomainStartEndE-ValueType
Catalase 28 413 4.7e-285 SMART
Pfam:Catalase-rel 434 497 5.8e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000111168
AA Change: E152G
SMART Domains Protein: ENSMUSP00000106798
Gene: ENSMUSG00000027187
AA Change: E152G

DomainStartEndE-ValueType
Catalase 28 176 2.33e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164172
SMART Domains Protein: ENSMUSP00000126941
Gene: ENSMUSG00000027186

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T A 1: 192,857,087 (GRCm39) D146E probably benign Het
Acaca C T 11: 84,271,339 (GRCm39) Q2058* probably null Het
Adam39 T A 8: 41,279,744 (GRCm39) C712S possibly damaging Het
Aipl1 T C 11: 71,921,161 (GRCm39) E219G probably benign Het
Ankrd24 A G 10: 81,475,898 (GRCm39) R301G unknown Het
Arhgef17 A G 7: 100,532,009 (GRCm39) F272L probably damaging Het
B3galt2 T A 1: 143,522,604 (GRCm39) Y247N probably damaging Het
Bltp1 T C 3: 37,002,090 (GRCm39) V1345A probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cemip2 T C 19: 21,803,453 (GRCm39) S829P probably damaging Het
Coro1b T A 19: 4,199,497 (GRCm39) V52E probably damaging Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dip2c T A 13: 9,704,683 (GRCm39) M1344K possibly damaging Het
Dnah5 A G 15: 28,236,774 (GRCm39) I367V probably benign Het
Dock2 T C 11: 34,178,607 (GRCm39) T1807A probably benign Het
Dusp10 T A 1: 183,806,643 (GRCm39) F459I probably damaging Het
Elac1 A T 18: 73,872,089 (GRCm39) L302Q probably benign Het
Entrep3 T A 3: 89,091,199 (GRCm39) S57T probably benign Het
Fdx2 A T 9: 20,979,097 (GRCm39) Y165N probably damaging Het
Gabra2 C T 5: 71,165,353 (GRCm39) V206I possibly damaging Het
Gabrg1 T C 5: 70,939,808 (GRCm39) E108G probably damaging Het
Gm29394 A G 15: 57,932,722 (GRCm39) L5P probably benign Het
Gnb1l C T 16: 18,362,914 (GRCm39) P101S probably benign Het
Hectd4 C A 5: 121,424,844 (GRCm39) S749* probably null Het
Hmcn2 A G 2: 31,244,742 (GRCm39) Y733C probably damaging Het
Inafm1 G A 7: 16,007,059 (GRCm39) L53F probably damaging Het
Iqgap3 G A 3: 88,011,657 (GRCm39) R814H probably damaging Het
Map3k19 A G 1: 127,778,163 (GRCm39) C21R probably benign Het
Maz A G 7: 126,624,924 (GRCm39) F199L probably damaging Het
Mis18bp1 A G 12: 65,187,628 (GRCm39) I825T probably damaging Het
Mpp3 T A 11: 101,907,506 (GRCm39) T211S possibly damaging Het
Mtrf1 T C 14: 79,656,664 (GRCm39) Y389H probably damaging Het
Myo3b G A 2: 70,075,648 (GRCm39) G579R probably benign Het
Nlrp4e T C 7: 23,020,197 (GRCm39) V228A probably benign Het
Npepps T A 11: 97,149,179 (GRCm39) probably null Het
Ntng1 A G 3: 109,842,224 (GRCm39) L183P probably damaging Het
Or8c16 A G 9: 38,130,868 (GRCm39) T247A probably benign Het
Pcdha4 A C 18: 37,086,740 (GRCm39) I308L probably benign Het
Pear1 G T 3: 87,658,480 (GRCm39) Q964K probably benign Het
Plekhg2 A T 7: 28,059,710 (GRCm39) D1182E possibly damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Ptpn13 T A 5: 103,674,998 (GRCm39) D658E possibly damaging Het
Ptprq T C 10: 107,524,254 (GRCm39) Y493C possibly damaging Het
Rnd1 A G 15: 98,570,526 (GRCm39) W107R probably damaging Het
Scn5a G A 9: 119,315,839 (GRCm39) T1623M probably damaging Het
Sec23b T C 2: 144,410,564 (GRCm39) I288T probably benign Het
Slfn14 T A 11: 83,174,733 (GRCm39) H86L probably benign Het
Smchd1 G A 17: 71,701,828 (GRCm39) H1055Y probably damaging Het
Sox13 G A 1: 133,316,214 (GRCm39) P243S probably damaging Het
St3gal6 C A 16: 58,305,136 (GRCm39) E109* probably null Het
Traf4 T C 11: 78,056,253 (GRCm39) D5G possibly damaging Het
Trank1 G T 9: 111,191,365 (GRCm39) C458F probably benign Het
Ttc41 T C 10: 86,549,049 (GRCm39) F81S probably benign Het
Tulp1 C T 17: 28,572,802 (GRCm39) W451* probably null Het
Tyms T C 5: 30,269,110 (GRCm39) I171V Het
Vmn2r115 T A 17: 23,578,184 (GRCm39) N552K probably damaging Het
Zfp710 T A 7: 79,730,909 (GRCm39) S29T possibly damaging 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
R9322:Cat UTSW 2 103,303,333 (GRCm39) missense probably damaging 1.00
R9561:Cat UTSW 2 103,307,250 (GRCm39) missense probably damaging 0.99
R9749:Cat UTSW 2 103,285,445 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTGAGTTAGGAACCTGGGATTTC -3'
(R):5'- GAAATGTCCTTCGTCCCCTG -3'

Sequencing Primer
(F):5'- CCATCCACTGTGAATGAATTCAGTG -3'
(R):5'- TCGTCCCCTGACCAGTAAG -3'
Posted On 2022-08-09