Incidental Mutation 'IGL02565:Ctsb'
ID 298774
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: 0.499) question?
Stock # IGL02565
Quality Score
Status
Chromosome 14
Chromosomal Location 63359911-63383372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 63375859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 198 (C198G)
Ref Sequence ENSEMBL: ENSMUSP00000006235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006235]
AlphaFold P10605
Predicted Effect probably null
Transcript: ENSMUST00000006235
AA Change: C198G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006235
Gene: ENSMUSG00000021939
AA Change: C198G

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,677 (GRCm39) S205R probably benign Het
Adora3 A G 3: 105,815,128 (GRCm39) T293A probably benign Het
App T C 16: 84,822,308 (GRCm39) probably null Het
Asap1 A G 15: 64,001,014 (GRCm39) probably benign Het
Brinp3 T A 1: 146,777,770 (GRCm39) V739E probably damaging Het
Bsn A G 9: 107,990,487 (GRCm39) V1755A probably damaging Het
Clmp A C 9: 40,683,711 (GRCm39) D147A probably damaging Het
Cntn5 A T 9: 10,145,343 (GRCm39) C122* probably null Het
Cyld A T 8: 89,467,919 (GRCm39) R702S probably damaging Het
Cyp4v3 A G 8: 45,773,674 (GRCm39) V165A possibly damaging Het
Dpy19l4 C A 4: 11,309,440 (GRCm39) V59F probably benign Het
Eml1 A T 12: 108,472,779 (GRCm39) T196S probably damaging Het
Fam111a T A 19: 12,564,318 (GRCm39) D22E probably damaging Het
Gigyf2 A G 1: 87,369,858 (GRCm39) H1150R probably damaging Het
Grk5 T G 19: 61,057,809 (GRCm39) F170V probably damaging Het
Heatr5a A C 12: 51,997,882 (GRCm39) V339G possibly damaging Het
Hgd T A 16: 37,435,749 (GRCm39) D153E possibly damaging Het
Ift70b A G 2: 75,768,247 (GRCm39) Y169H probably benign Het
Igdcc3 T A 9: 65,087,470 (GRCm39) L336Q probably damaging Het
Jph2 T C 2: 163,239,265 (GRCm39) E61G probably damaging Het
Ktn1 A T 14: 47,910,391 (GRCm39) probably benign Het
Lrch3 T A 16: 32,826,084 (GRCm39) D634E probably benign Het
Marchf6 T C 15: 31,490,712 (GRCm39) probably benign Het
Misp T A 10: 79,662,177 (GRCm39) I198N probably benign Het
Mmp14 C T 14: 54,678,014 (GRCm39) P545L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Muc5b T C 7: 141,411,604 (GRCm39) S1517P unknown Het
Nae1 A T 8: 105,237,841 (GRCm39) N518K probably damaging Het
Pglyrp4 A T 3: 90,642,794 (GRCm39) D225V probably benign Het
Pgpep1 A G 8: 71,105,119 (GRCm39) I47T probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnc1 G A 11: 107,187,059 (GRCm39) T88I probably damaging Het
Poldip2 T C 11: 78,408,678 (GRCm39) I181T probably damaging Het
Ppfia2 T C 10: 106,699,247 (GRCm39) probably null Het
Rasal1 A G 5: 120,814,845 (GRCm39) probably benign Het
Rbms1 A G 2: 60,590,123 (GRCm39) Y305H probably benign Het
Rnf123 A C 9: 107,929,411 (GRCm39) probably null Het
Sec14l3 G A 11: 4,026,237 (GRCm39) probably benign Het
Slc2a10 A C 2: 165,357,000 (GRCm39) D220A probably damaging Het
Slc38a8 T C 8: 120,212,300 (GRCm39) T348A probably damaging Het
Slc4a5 T C 6: 83,276,487 (GRCm39) V1104A probably benign Het
Snrpe T C 1: 133,536,704 (GRCm39) probably benign Het
Th C A 7: 142,453,647 (GRCm39) V18F probably damaging Het
Ubqln5 G A 7: 103,778,279 (GRCm39) Q182* probably null Het
Unc5c T C 3: 141,509,680 (GRCm39) V646A probably damaging Het
Wasf1 A G 10: 40,812,128 (GRCm39) N306D possibly damaging Het
Other mutations in Ctsb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Ctsb APN 14 63,373,099 (GRCm39) missense probably damaging 0.99
IGL03011:Ctsb APN 14 63,370,806 (GRCm39) missense probably benign 0.13
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 2015-04-16