|Institutional Source||Beutler Lab|
|Gene Name||granzyme B|
|Synonyms||Ctla1, Ctla-1, CCP1, GZB, CCP-1/C11|
|Essential gene?||Probably non essential (E-score: 0.133)|
|Stock #||R8701 (G1)|
|Chromosomal Location||56258838-56262260 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 56260360 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 141 (V141E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015581 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015581]|
AA Change: V141E
PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: V141E
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Mice lacking a functional copy of this gene exhibit impaired immune cell-mediated cytolysis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a null allele show impaired CTL and NK cell cytolysis, and enhanced clearance of allogeneic and syngeneic tumor cells. Homozygotes for another null allele have defective CTL cytolysis and show impaired clearance of allogeneic tumor cells only if the selection cassette is retained. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gzmb||
(F):5'- AAGGAAGCACGTTTGGTCTTTG -3'
(R):5'- TGCTGCTAAAGGTGAGACC -3'
(F):5'- GGGTCCCCCGCACATATCTG -3'
(R):5'- CTGTCTTGGTCCACGGACTG -3'