|Institutional Source||Beutler Lab|
|Gene Name||caspase 2|
|Synonyms||Nedd2, Caspase-2, Ich-1|
|Is this an essential gene?||Possibly non essential (E-score: 0.321)|
|Stock #||R7141 (G1)|
|Chromosomal Location||42264985-42282508 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 42280395 bp|
|Amino Acid Change||Phenylalanine to Serine at position 426 (F426S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031895 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031895] [ENSMUST00000156829]|
|Predicted Effect||possibly damaging
AA Change: F426S
PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: F426S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0957|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: This gene encodes the evolutionarily ancient and most conserved member of the cysteine proteases that plays important role in stress-induced apoptosis, DNA repair and tumor suppression. Mice lacking the encoded protein develop normally but display cell type-specific apoptotic defects. Germ cells and oocytes from such mice were found to be resistant to cell death after treatment with chemotherapeutic drugs. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal apoptosis. Apoptosis is reduced in the female germline, but is increased in sympathetic neurons during development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Casp2||
(F):5'- AGGTAAGTCCGTTCCAGCTG -3'
(R):5'- CTGGGAGAATCTCATATCCCTGAG -3'
(F):5'- GTTCCAGCTGCCTCCACAAG -3'
(R):5'- GAGGGTAGACAGAACAAAAACCATTC -3'