|Institutional Source||Beutler Lab|
|Gene Name||cathepsin E|
|Synonyms||CatE, C920004C08Rik, CE, A430072O03Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2198 (G1)|
|Chromosomal Location||131638306-131675505 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||T to G at 131672447 bp|
|Amino Acid Change||Tyrosine to Stop codon at position 311 (Y311*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000073072 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000073350] [ENSMUST00000112411]|
|Predicted Effect||probably null
AA Change: Y311*
AA Change: Y311*
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.618|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: This gene encodes a member of the peptidase A1 family of aspartate proteases and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. Homozygous knockout mice for this gene exhibit lysosomal storage disorder, impaired autophagy, mitochondrial abnormalities, dermatitis, and reduced weight gain in an obesity model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile, but develop skin lesions on the face, ears, neck and dorsal skin which are similar to those seen in human atopic dermatitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctse||
(F):5'- CACTGTGATGTTCTGCTCCG -3'
(R):5'- CTCATGTAGATGACTTTGAAGGGG -3'
(F):5'- ATAGTGGACACAGGGACCTCTCTC -3'
(R):5'- TGACTTTGAAGGGGGAAGTGGC -3'