Incidental Mutation 'IGL00835:Ctsb'
ID12558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctsb
Ensembl Gene ENSMUSG00000021939
Gene Namecathepsin B
SynonymsCB
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.330) question?
Stock #IGL00835
Quality Score
Status
Chromosome14
Chromosomal Location63122462-63145923 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 63135650 bp
ZygosityHeterozygous
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]
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: 71,302,733 D1023G probably damaging Het
Agbl3 A G 6: 34,799,732 D391G probably damaging Het
Aggf1 C A 13: 95,362,477 V450F probably damaging Het
Alms1 A G 6: 85,622,134 Y1314C probably damaging Het
Arfgef3 A G 10: 18,661,358 F192L probably benign Het
Arnt A G 3: 95,490,340 D541G probably damaging Het
AU040320 A G 4: 126,757,071 probably null Het
Cep290 A T 10: 100,563,380 R2255* probably null Het
Creb3l4 T A 3: 90,241,987 H138L possibly damaging Het
Crispld2 G A 8: 120,010,648 R46H probably damaging Het
Crlf3 T C 11: 80,047,675 T379A probably benign Het
Etv2 A T 7: 30,633,667 D325E probably benign Het
Fggy T A 4: 95,837,628 I335N possibly damaging Het
Fkbp1b C T 12: 4,833,726 G90S probably damaging Het
Glra3 A G 8: 55,940,977 probably benign Het
Gpatch8 C A 11: 102,478,549 A1388S probably damaging Het
Grin2b T A 6: 135,733,570 S993C probably damaging Het
Gsg1 A T 6: 135,244,092 M103K possibly damaging Het
Il12rb2 A T 6: 67,360,567 V110D probably damaging Het
Kat8 A G 7: 127,920,504 D174G probably damaging Het
Krt82 A T 15: 101,543,378 I334N probably damaging Het
Lrrfip1 C T 1: 91,115,418 T515I possibly damaging Het
Lrrtm2 T A 18: 35,214,239 L3F probably benign Het
Man1c1 T A 4: 134,564,532 Q575L probably damaging Het
Panx1 A G 9: 15,007,844 S240P probably damaging Het
Phldb2 G A 16: 45,751,456 T1191I probably damaging Het
Plb1 G A 5: 32,364,172 E1456K unknown Het
Prtn3 A G 10: 79,881,052 T84A probably benign Het
R3hdm1 T C 1: 128,235,632 probably benign Het
Sirpa G A 2: 129,609,183 C121Y probably damaging Het
Slc9a3 C A 13: 74,160,302 H475N probably benign Het
Smgc A T 15: 91,844,420 D121V probably damaging Het
Spata16 A T 3: 26,924,262 E459V probably damaging Het
Sult2a4 T A 7: 13,909,789 E284D probably benign Het
Tbc1d32 A G 10: 56,089,846 probably benign Het
Thsd7a A C 6: 12,554,934 V317G probably damaging Het
Trh T C 6: 92,242,789 E182G probably benign Het
Tsc1 A G 2: 28,672,466 D368G possibly damaging Het
Ttc39d T G 17: 80,216,526 C205G probably damaging Het
Unc79 T G 12: 103,141,890 probably benign Het
Vps13d A T 4: 145,160,652 D724E probably damaging Het
Zc3h14 T A 12: 98,747,524 probably null Het
Zfp507 G T 7: 35,776,038 H917N probably damaging Het
Other mutations in Ctsb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Ctsb APN 14 63138410 missense probably null 1.00
IGL03011:Ctsb APN 14 63133357 missense probably benign 0.13
R0001:Ctsb UTSW 14 63135622 missense probably benign 0.00
R1226:Ctsb UTSW 14 63141740 missense probably damaging 1.00
R1241:Ctsb UTSW 14 63139104 missense probably benign 0.28
R1533:Ctsb UTSW 14 63139095 missense probably damaging 1.00
R4179:Ctsb UTSW 14 63133452 missense probably benign 0.01
R6042:Ctsb UTSW 14 63141856 missense probably damaging 1.00
R6396:Ctsb UTSW 14 63138101 missense probably benign 0.04
R7422:Ctsb UTSW 14 63142303 missense probably benign 0.00
R7472:Ctsb UTSW 14 63138101 missense probably benign 0.04
R7573:Ctsb UTSW 14 63138101 missense probably benign 0.04
R7721:Ctsb UTSW 14 63133316 splice site probably benign
Posted On2012-12-06