Incidental Mutation 'R5582:Chek2'
ID 438496
Institutional Source Beutler Lab
Gene Symbol Chek2
Ensembl Gene ENSMUSG00000029521
Gene Name checkpoint kinase 2
Synonyms CHK2, Rad53
MMRRC Submission 043136-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5582 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110987845-111022011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111015901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 472 (V472A)
Ref Sequence ENSEMBL: ENSMUSP00000066679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066160] [ENSMUST00000199937]
AlphaFold Q9Z265
Predicted Effect probably damaging
Transcript: ENSMUST00000066160
AA Change: V472A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066679
Gene: ENSMUSG00000029521
AA Change: V472A

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
low complexity region 41 72 N/A INTRINSIC
FHA 116 179 5.14e-3 SMART
S_TKc 224 490 7.35e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196650
Predicted Effect probably benign
Transcript: ENSMUST00000199937
SMART Domains Protein: ENSMUSP00000143558
Gene: ENSMUSG00000029521

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
low complexity region 41 72 N/A INTRINSIC
FHA 116 179 2.6e-5 SMART
Meta Mutation Damage Score 0.1132 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (61/62)
MGI Phenotype 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
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,586,639 (GRCm39) probably null Het
Agxt2 A G 15: 10,399,245 (GRCm39) D444G probably damaging Het
Aldh1b1 G T 4: 45,802,750 (GRCm39) R96L probably damaging Het
Ank2 T C 3: 126,739,954 (GRCm39) probably benign Het
Apob A G 12: 8,060,788 (GRCm39) Y3090C probably damaging Het
Bbx A G 16: 50,043,719 (GRCm39) S647P probably damaging Het
Brinp2 T C 1: 158,076,979 (GRCm39) Y372C probably damaging Het
Btaf1 T C 19: 36,965,573 (GRCm39) probably null Het
Cdk5rap1 T A 2: 154,187,894 (GRCm39) E477D probably benign Het
Cfap65 G A 1: 74,946,677 (GRCm39) probably benign Het
Chdh A G 14: 29,758,816 (GRCm39) Y587C probably damaging Het
Clasrp A C 7: 19,320,781 (GRCm39) I326S probably damaging Het
Clic6 A T 16: 92,296,342 (GRCm39) Q334L possibly damaging Het
Cyp2d11 A T 15: 82,276,319 (GRCm39) probably null Het
Entpd7 T C 19: 43,693,433 (GRCm39) I171T probably damaging Het
Fosl1 T C 19: 5,505,295 (GRCm39) probably benign Het
Gm6124 A G 7: 38,869,622 (GRCm39) noncoding transcript Het
H3f3a A T 1: 180,637,650 (GRCm39) probably benign Het
Hs1bp3 AGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGAGGAGGAGGAGGAGGAGGAGGAGG 12: 8,374,048 (GRCm39) probably benign Het
Idh2 CCAGGGC CC 7: 79,748,087 (GRCm39) probably null Het
Igkv3-7 A G 6: 70,584,990 (GRCm39) Y110C probably damaging Het
Ints9 C T 14: 65,266,345 (GRCm39) T399M possibly damaging Het
Kctd19 G A 8: 106,135,075 (GRCm39) T62M probably damaging Het
Lsmem1 A G 12: 40,230,643 (GRCm39) probably null Het
Obscn T C 11: 58,990,802 (GRCm39) probably null Het
Or11h23 T C 14: 50,948,425 (GRCm39) Y213H probably damaging Het
Or1j12 T C 2: 36,343,233 (GRCm39) I212T probably benign Het
Otop3 T A 11: 115,230,165 (GRCm39) M14K unknown Het
Pibf1 C T 14: 99,374,566 (GRCm39) A335V possibly damaging Het
Pkd1l2 A T 8: 117,767,522 (GRCm39) L1256* probably null Het
Plbd2 T C 5: 120,631,171 (GRCm39) E202G probably benign Het
Ppp1r37 A G 7: 19,266,219 (GRCm39) S516P probably damaging Het
Ppt2 G A 17: 34,836,373 (GRCm39) T229M probably damaging Het
Prr14 A T 7: 127,075,569 (GRCm39) I526F probably damaging Het
Scel T C 14: 103,820,575 (GRCm39) probably benign Het
Scn9a A T 2: 66,395,373 (GRCm39) probably benign Het
Senp6 T A 9: 79,997,158 (GRCm39) D57E possibly damaging Het
Setd5 T C 6: 113,091,886 (GRCm39) Y217H probably damaging Het
Sgcg T C 14: 61,462,754 (GRCm39) T198A probably damaging Het
Sipa1 C T 19: 5,704,729 (GRCm39) G622D probably benign Het
Slc27a2 C T 2: 126,406,610 (GRCm39) A98V probably damaging Het
Slitrk3 G T 3: 72,957,737 (GRCm39) P345Q probably benign Het
Slx4 T C 16: 3,803,652 (GRCm39) D1054G possibly damaging Het
Sned1 A T 1: 93,210,083 (GRCm39) T898S probably damaging Het
Tg C T 15: 66,565,284 (GRCm39) P1209S probably damaging Het
Tmem63b C A 17: 45,978,689 (GRCm39) V294L probably benign Het
Tnks G A 8: 35,408,015 (GRCm39) R238C probably benign Het
Tsn G A 1: 118,232,944 (GRCm39) T120I probably damaging Het
Txnrd1 T A 10: 82,731,814 (GRCm39) F479I possibly damaging Het
Ubr1 T C 2: 120,745,888 (GRCm39) M849V probably benign Het
Usp13 T C 3: 32,965,738 (GRCm39) S574P probably damaging Het
Vmn1r69 A G 7: 10,314,435 (GRCm39) Y20H probably damaging Het
Zfp1001 T C 2: 150,204,972 (GRCm39) probably benign Het
Zfp780b T A 7: 27,664,252 (GRCm39) N101I probably damaging Het
Other mutations in Chek2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Chek2 APN 5 110,996,536 (GRCm39) missense probably damaging 1.00
IGL01830:Chek2 APN 5 111,021,374 (GRCm39) missense probably benign
IGL01943:Chek2 APN 5 110,989,093 (GRCm39) unclassified probably benign
IGL02319:Chek2 APN 5 111,014,877 (GRCm39) missense possibly damaging 0.88
IGL03147:Chek2 UTSW 5 110,996,536 (GRCm39) missense probably damaging 1.00
PIT4520001:Chek2 UTSW 5 111,011,195 (GRCm39) missense probably damaging 1.00
R1484:Chek2 UTSW 5 110,996,553 (GRCm39) missense probably damaging 1.00
R1486:Chek2 UTSW 5 110,989,093 (GRCm39) unclassified probably benign
R1732:Chek2 UTSW 5 111,019,968 (GRCm39) missense probably benign 0.26
R2041:Chek2 UTSW 5 110,996,530 (GRCm39) missense probably damaging 1.00
R2071:Chek2 UTSW 5 110,989,112 (GRCm39) unclassified probably benign
R2873:Chek2 UTSW 5 111,011,202 (GRCm39) nonsense probably null
R2935:Chek2 UTSW 5 111,015,886 (GRCm39) missense probably damaging 1.00
R3899:Chek2 UTSW 5 111,013,479 (GRCm39) splice site probably benign
R4662:Chek2 UTSW 5 111,014,908 (GRCm39) missense probably damaging 1.00
R4748:Chek2 UTSW 5 111,003,705 (GRCm39) splice site probably null
R5358:Chek2 UTSW 5 110,989,148 (GRCm39) unclassified probably benign
R5594:Chek2 UTSW 5 111,003,700 (GRCm39) critical splice donor site probably null
R6526:Chek2 UTSW 5 110,996,556 (GRCm39) missense probably damaging 1.00
R6972:Chek2 UTSW 5 111,003,705 (GRCm39) splice site probably null
R7232:Chek2 UTSW 5 111,008,781 (GRCm39) missense probably damaging 1.00
R7338:Chek2 UTSW 5 111,021,380 (GRCm39) missense probably benign
R7395:Chek2 UTSW 5 111,019,974 (GRCm39) critical splice donor site probably null
R7714:Chek2 UTSW 5 110,989,319 (GRCm39) missense probably benign 0.10
R7743:Chek2 UTSW 5 110,987,916 (GRCm39) critical splice donor site probably null
R8290:Chek2 UTSW 5 111,008,766 (GRCm39) missense possibly damaging 0.70
R8297:Chek2 UTSW 5 110,996,302 (GRCm39) missense probably damaging 1.00
R8719:Chek2 UTSW 5 111,014,908 (GRCm39) missense probably damaging 0.98
R8898:Chek2 UTSW 5 111,011,175 (GRCm39) missense probably benign 0.00
R8906:Chek2 UTSW 5 111,013,458 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- AGGGCTTTCTCCATCCAATCAG -3'
(R):5'- GCATGGAAAGAGCTGACACC -3'

Sequencing Primer
(F):5'- ATCCAATCAGCTTGTCCCATG -3'
(R):5'- CGCGAGTGTGTACTGATTAAAAAC -3'
Posted On 2016-10-26