|Institutional Source||Beutler Lab|
|Gene Name||cathepsin B|
|Is this an essential gene?||Possibly non essential (E-score: 0.446)|
|Stock #||R7573 (G1)|
|Chromosomal Location||63122462-63145923 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 63138101 bp|
|Amino Acid Change||Valine to Alanine at position 172 (V172A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006235 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006235]|
|Predicted Effect||probably benign
AA Change: V172A
PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: V172A
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
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||
|Other mutations in Ctsb||
(F):5'- GGACAGTATATTCCCAGGGGAC -3'
(R):5'- AATGTCAGCTTGCAACCCC -3'
(F):5'- GGACCTTGGCATTTGTACCG -3'
(R):5'- AGACCATGTCTACATCCTGTGGG -3'