|Institutional Source||Beutler Lab|
|Gene Name||checkpoint kinase 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7395 (G1)|
|Chromosomal Location||110839979-110874145 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||G to T at 110872108 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000066679 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066160] [ENSMUST00000199937]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (92/93)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous mutation of this gene does not increase tumor incidence. Cells from the thymus, central nervous system (CNS), hair follicles, and skin are resistant to ionizing radiation- and gamma irradiation-induced apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chek2||
(F):5'- AACAGCCAAGTCCCTTCATTAGG -3'
(R):5'- CTCTGTTGAGAGTCAATGCCC -3'
(F):5'- TGCTGTCAGGAAGGTAGCC -3'
(R):5'- GTTGAGAGTCAATGCCCTATCTCAG -3'