Incidental Mutation 'IGL03011:Ctsb'
ID 407790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsb
Ensembl Gene ENSMUSG00000021939
Gene Name cathepsin B
Synonyms CB
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # IGL03011
Quality Score
Status
Chromosome 14
Chromosomal Location 63359911-63383372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63370806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 6 (I6N)
Ref Sequence ENSEMBL: ENSMUSP00000006235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006235]
AlphaFold P10605
Predicted Effect probably benign
Transcript: ENSMUST00000006235
AA Change: I6N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000006235
Gene: ENSMUSG00000021939
AA Change: I6N

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Propeptide_C1 26 65 5.4e-22 PFAM
Pept_C1 80 329 1.12e-97 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225540
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the peptidase C1 family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to generate the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. Homozygous knockout mice for this gene exhibit reduced pancreatic damage following induced pancreatitis and reduced hepatocyte apoptosis in a model of liver injury. Pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations are born normal without gross abnormalities. Homozygous mutant has resistance to induced pancreatitis. In combination with Ctsltm1Cptr, double homozygous mutant shows postnatal lethality due to wide neuronal degeneration in brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Apob C A 12: 8,047,883 (GRCm39) P941Q probably damaging Het
Armc9 T A 1: 86,127,638 (GRCm39) probably null Het
Arpc5l T C 2: 38,903,730 (GRCm39) probably benign Het
Atg2b C A 12: 105,592,621 (GRCm39) D1745Y probably damaging Het
Atp9a A G 2: 168,494,552 (GRCm39) V651A probably damaging Het
Ccnyl1 T C 1: 64,747,631 (GRCm39) I148T possibly damaging Het
Cfap95 T A 19: 23,630,017 (GRCm39) D25V unknown Het
Chrna6 A T 8: 27,903,682 (GRCm39) W17R possibly damaging Het
Cpne1 G A 2: 155,919,917 (GRCm39) H244Y probably damaging Het
Cpxm2 A G 7: 131,650,807 (GRCm39) Y618H possibly damaging Het
Csf1r T C 18: 61,243,473 (GRCm39) I163T probably benign Het
Ctdsp1 T C 1: 74,434,606 (GRCm39) probably benign Het
Dcbld1 A G 10: 52,160,244 (GRCm39) N44S probably damaging Het
Dnah11 C T 12: 117,976,112 (GRCm39) C2769Y probably benign Het
Efemp2 C A 19: 5,530,093 (GRCm39) Q187K probably damaging Het
Elavl3 A T 9: 21,947,612 (GRCm39) I109N probably damaging Het
Elovl5 G T 9: 77,890,066 (GRCm39) K292N probably benign Het
Epb41 G T 4: 131,731,105 (GRCm39) P1T probably damaging Het
Gm44865 G T 7: 108,165,007 (GRCm39) probably benign Het
Gnat2 C A 3: 108,007,368 (GRCm39) T262K probably damaging Het
Katnip T C 7: 125,451,174 (GRCm39) C1102R probably benign Het
Kmt2e A T 5: 23,702,540 (GRCm39) I951F probably damaging Het
Large2 T C 2: 92,197,927 (GRCm39) H258R probably damaging Het
Lnx1 G A 5: 74,846,420 (GRCm39) P10L probably benign Het
Lrp6 G A 6: 134,497,380 (GRCm39) S209L possibly damaging Het
Mc3r A G 2: 172,091,716 (GRCm39) I313V probably benign Het
Med1 T C 11: 98,051,859 (GRCm39) D468G possibly damaging Het
Mlxip T C 5: 123,584,014 (GRCm39) S526P probably benign Het
Myo15a T C 11: 60,400,357 (GRCm39) probably benign Het
Nedd1 T C 10: 92,525,503 (GRCm39) D602G possibly damaging Het
Nol7 C T 13: 43,554,769 (GRCm39) probably benign Het
Or8c10 T C 9: 38,279,364 (GRCm39) I174T possibly damaging Het
Piezo2 T C 18: 63,257,731 (GRCm39) D329G probably benign Het
Pkia G T 3: 7,507,142 (GRCm39) E75* probably null Het
Pramel26 A C 4: 143,538,330 (GRCm39) F214V possibly damaging Het
Ptpn14 A T 1: 189,571,754 (GRCm39) T282S probably damaging Het
Ptprg C T 14: 12,219,029 (GRCm38) P408S probably damaging Het
Rpa2 A G 4: 132,502,358 (GRCm39) I147V probably benign Het
Serpina12 T C 12: 103,997,397 (GRCm39) T375A possibly damaging Het
Serpinb11 T A 1: 107,307,546 (GRCm39) S326T probably damaging Het
Slc18a1 T C 8: 69,491,515 (GRCm39) T500A probably benign Het
Tapt1 A G 5: 44,350,529 (GRCm39) F247L possibly damaging Het
Trav8d-2 A G 14: 53,280,218 (GRCm39) I69M possibly damaging Het
Other mutations in Ctsb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Ctsb APN 14 63,373,099 (GRCm39) missense probably damaging 0.99
IGL02565:Ctsb APN 14 63,375,859 (GRCm39) missense probably null 1.00
R0001:Ctsb UTSW 14 63,373,071 (GRCm39) missense probably benign 0.00
R1226:Ctsb UTSW 14 63,379,189 (GRCm39) missense probably damaging 1.00
R1241:Ctsb UTSW 14 63,376,553 (GRCm39) missense probably benign 0.28
R1533:Ctsb UTSW 14 63,376,544 (GRCm39) missense probably damaging 1.00
R4179:Ctsb UTSW 14 63,370,901 (GRCm39) missense probably benign 0.01
R6042:Ctsb UTSW 14 63,379,305 (GRCm39) missense probably damaging 1.00
R6396:Ctsb UTSW 14 63,375,550 (GRCm39) missense probably benign 0.04
R7422:Ctsb UTSW 14 63,379,752 (GRCm39) missense probably benign 0.00
R7472:Ctsb UTSW 14 63,375,550 (GRCm39) missense probably benign 0.04
R7573:Ctsb UTSW 14 63,375,550 (GRCm39) missense probably benign 0.04
R7721:Ctsb UTSW 14 63,370,765 (GRCm39) splice site probably benign
R8498:Ctsb UTSW 14 63,370,881 (GRCm39) missense probably benign 0.13
R9184:Ctsb UTSW 14 63,375,544 (GRCm39) missense probably damaging 1.00
R9229:Ctsb UTSW 14 63,373,112 (GRCm39) missense probably damaging 1.00
R9287:Ctsb UTSW 14 63,370,875 (GRCm39) missense probably benign 0.41
R9472:Ctsb UTSW 14 63,379,186 (GRCm39) missense probably damaging 1.00
R9665:Ctsb UTSW 14 63,370,917 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02