|Institutional Source||Beutler Lab|
|Gene Name||cathepsin K|
|Synonyms||Cat K, catK|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5990 (G1)|
|Chromosomal Location||95499256-95509362 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 95501456 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 77 (H77L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015664 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015664] [ENSMUST00000090804] [ENSMUST00000107161]|
AA Change: H77L
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: H77L
|Meta Mutation Damage Score||0.2389|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
FUNCTION: This gene encodes a member of the cathepsin family of cysteine proteases that is highly expressed in osteoclasts and is involved in the degradation of collagen and other matrix proteins in bone. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme. Mice lacking the encoded protein exhibit phenotypic features of pycnodysostosis such as increased bone density and bone deformity, which become progressively more pronounced with age. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene survive well and are fertile. They have osteopetrosis, reduced levels of thyroxine and increased pulmonary fibrosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctsk||
(F):5'- TCTTAAGAGTCTATGGTTTCCCAG -3'
(R):5'- CTGGGGTATAGAGAGTGTCATTAC -3'
(F):5'- AGTCTATGGTTTCCCAGTTAGATTG -3'
(R):5'- AGAGAGTGTCATTACTGTAGGATC -3'