Incidental Mutation 'IGL00835:Ctsb'
ID 12558
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 # IGL00835
Quality Score
Status
Chromosome 14
Chromosomal Location 63359911-63383372 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63373099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 85 (D85E)
Ref Sequence ENSEMBL: ENSMUSP00000006235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006235]
AlphaFold P10605
Predicted Effect probably damaging
Transcript: ENSMUST00000006235
AA Change: D85E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006235
Gene: ENSMUSG00000021939
AA Change: D85E

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,341,892 (GRCm39) D1023G probably damaging Het
Agbl3 A G 6: 34,776,667 (GRCm39) D391G probably damaging Het
Aggf1 C A 13: 95,498,985 (GRCm39) V450F probably damaging Het
Alms1 A G 6: 85,599,116 (GRCm39) Y1314C probably damaging Het
Arfgef3 A G 10: 18,537,106 (GRCm39) F192L probably benign Het
Arnt A G 3: 95,397,651 (GRCm39) D541G probably damaging Het
AU040320 A G 4: 126,650,864 (GRCm39) probably null Het
Cep290 A T 10: 100,399,242 (GRCm39) R2255* probably null Het
Creb3l4 T A 3: 90,149,294 (GRCm39) H138L possibly damaging Het
Crispld2 G A 8: 120,737,387 (GRCm39) R46H probably damaging Het
Crlf3 T C 11: 79,938,501 (GRCm39) T379A probably benign Het
Etv2 A T 7: 30,333,092 (GRCm39) D325E probably benign Het
Fggy T A 4: 95,725,865 (GRCm39) I335N possibly damaging Het
Fkbp1b C T 12: 4,883,726 (GRCm39) G90S probably damaging Het
Glra3 A G 8: 56,394,012 (GRCm39) probably benign Het
Gpatch8 C A 11: 102,369,375 (GRCm39) A1388S probably damaging Het
Grin2b T A 6: 135,710,568 (GRCm39) S993C probably damaging Het
Gsg1 A T 6: 135,221,090 (GRCm39) M103K possibly damaging Het
Il12rb2 A T 6: 67,337,551 (GRCm39) V110D probably damaging Het
Kat8 A G 7: 127,519,676 (GRCm39) D174G probably damaging Het
Krt82 A T 15: 101,451,813 (GRCm39) I334N probably damaging Het
Lrrfip1 C T 1: 91,043,140 (GRCm39) T515I possibly damaging Het
Lrrtm2 T A 18: 35,347,292 (GRCm39) L3F probably benign Het
Man1c1 T A 4: 134,291,843 (GRCm39) Q575L probably damaging Het
Panx1 A G 9: 14,919,140 (GRCm39) S240P probably damaging Het
Phldb2 G A 16: 45,571,819 (GRCm39) T1191I probably damaging Het
Plb1 G A 5: 32,521,516 (GRCm39) E1456K unknown Het
Prtn3 A G 10: 79,716,886 (GRCm39) T84A probably benign Het
R3hdm1 T C 1: 128,163,369 (GRCm39) probably benign Het
Sirpa G A 2: 129,451,103 (GRCm39) C121Y probably damaging Het
Slc9a3 C A 13: 74,308,421 (GRCm39) H475N probably benign Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Spata16 A T 3: 26,978,411 (GRCm39) E459V probably damaging Het
Sult2a4 T A 7: 13,643,714 (GRCm39) E284D probably benign Het
Tbc1d32 A G 10: 55,965,942 (GRCm39) probably benign Het
Thsd7a A C 6: 12,554,933 (GRCm39) V317G probably damaging Het
Trh T C 6: 92,219,770 (GRCm39) E182G probably benign Het
Tsc1 A G 2: 28,562,478 (GRCm39) D368G possibly damaging Het
Ttc39d T G 17: 80,523,955 (GRCm39) C205G probably damaging Het
Unc79 T G 12: 103,108,149 (GRCm39) probably benign Het
Vps13d A T 4: 144,887,222 (GRCm39) D724E probably damaging Het
Zc3h14 T A 12: 98,713,783 (GRCm39) probably null Het
Zfp507 G T 7: 35,475,463 (GRCm39) H917N probably damaging Het
Other mutations in Ctsb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Ctsb APN 14 63,375,859 (GRCm39) missense probably null 1.00
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 2012-12-06