Incidental Mutation 'R5358:Chek2'
ID 424158
Institutional Source Beutler Lab
Gene Symbol Chek2
Ensembl Gene ENSMUSG00000029521
Gene Name checkpoint kinase 2
Synonyms CHK2, Rad53
MMRRC Submission 042937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5358 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 110987845-111022011 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 110989148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056937] [ENSMUST00000066160] [ENSMUST00000145318] [ENSMUST00000198373] [ENSMUST00000199937] [ENSMUST00000200172]
AlphaFold Q9Z265
Predicted Effect probably benign
Transcript: ENSMUST00000056937
SMART Domains Protein: ENSMUSP00000062811
Gene: ENSMUSG00000043510

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
DnaJ 70 135 6.53e-3 SMART
Pfam:HSCB_C 156 228 9.4e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000066160
AA Change: S24P
SMART Domains Protein: ENSMUSP00000066679
Gene: ENSMUSG00000029521
AA Change: S24P

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 probably benign
Transcript: ENSMUST00000144850
Predicted Effect probably benign
Transcript: ENSMUST00000145318
SMART Domains Protein: ENSMUSP00000120926
Gene: ENSMUSG00000043510

DomainStartEndE-ValueType
DnaJ 19 84 6.53e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000198373
AA Change: S24P
Predicted Effect unknown
Transcript: ENSMUST00000199937
AA Change: S24P
SMART Domains Protein: ENSMUSP00000143558
Gene: ENSMUSG00000029521
AA Change: S24P

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
Predicted Effect unknown
Transcript: ENSMUST00000200172
AA Change: S24P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200630
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,849,165 (GRCm39) V1842A probably damaging Het
Abi3 A T 11: 95,732,934 (GRCm39) F13L probably benign Het
Adgre4 A G 17: 56,125,758 (GRCm39) K538R probably benign Het
Bcas3 C T 11: 85,342,581 (GRCm39) H191Y probably benign Het
Bicdl2 A G 17: 23,886,538 (GRCm39) T376A probably benign Het
Ceacam18 C A 7: 43,286,497 (GRCm39) N123K possibly damaging Het
Celsr3 C T 9: 108,709,224 (GRCm39) R1357C possibly damaging Het
Chmp7 A G 14: 69,958,684 (GRCm39) V210A probably benign Het
Chrm2 A G 6: 36,500,290 (GRCm39) K49R probably damaging Het
Ciao2b T C 8: 105,368,282 (GRCm39) N14S probably damaging Het
Daam1 T A 12: 71,999,233 (GRCm39) L623* probably null Het
Ddx31 T A 2: 28,753,782 (GRCm39) C448S probably damaging Het
Dnah7a A G 1: 53,586,331 (GRCm39) S1507P probably damaging Het
Dnah8 C A 17: 30,965,928 (GRCm39) T2420K probably damaging Het
Dyrk3 C T 1: 131,057,432 (GRCm39) R247H probably damaging Het
Exoc4 A G 6: 33,242,934 (GRCm39) E49G probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxj3 A G 4: 119,476,596 (GRCm39) E258G probably damaging Het
Gata4 C T 14: 63,478,075 (GRCm39) A175T probably benign Het
Helz2 C T 2: 180,877,321 (GRCm39) E1106K probably damaging Het
Hip1 G T 5: 135,465,252 (GRCm39) S385R probably benign Het
Igsf9 C T 1: 172,312,078 (GRCm39) T8I probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Katnal2 A G 18: 77,105,190 (GRCm39) Y86H possibly damaging Het
Kcnh6 A T 11: 105,918,417 (GRCm39) I756F possibly damaging Het
Kdm5b C T 1: 134,535,432 (GRCm39) R570* probably null Het
Kif16b T A 2: 142,582,889 (GRCm39) R545S probably damaging Het
Kif21b T A 1: 136,100,030 (GRCm39) I1528N possibly damaging Het
Kmt2a T C 9: 44,730,571 (GRCm39) probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mknk2 T C 10: 80,507,597 (GRCm39) T60A probably benign Het
Ncoa6 T C 2: 155,248,907 (GRCm39) K1466E probably damaging Het
Ntsr2 A C 12: 16,704,083 (GRCm39) T109P probably damaging Het
Nup214 C A 2: 31,907,158 (GRCm39) S995Y unknown Het
Or2a5 A T 6: 42,873,454 (GRCm39) Q23L probably benign Het
Pclo T A 5: 14,762,750 (GRCm39) L456* probably null Het
Pde5a A G 3: 122,541,825 (GRCm39) D105G probably damaging Het
Pik3c3 C A 18: 30,456,597 (GRCm39) P709H probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rab3c T C 13: 110,198,497 (GRCm39) N179S possibly damaging Het
Setdb2 T A 14: 59,646,885 (GRCm39) R559S probably benign Het
Sf3b1 A G 1: 55,042,469 (GRCm39) Y474H probably benign Het
Slc6a6 G T 6: 91,712,155 (GRCm39) W228L probably benign Het
Slc8a2 T G 7: 15,891,228 (GRCm39) I750S probably damaging Het
Slco2b1 T A 7: 99,309,251 (GRCm39) I194L unknown Het
Smarcd1 C T 15: 99,601,128 (GRCm39) Q45* probably null Het
Srcap T G 7: 127,139,492 (GRCm39) L1271R probably damaging Het
Srsf12 A T 4: 33,209,330 (GRCm39) N9Y probably damaging Het
St7 T C 6: 17,819,317 (GRCm39) S74P probably damaging Het
Stxbp5l T A 16: 36,994,688 (GRCm39) E739V probably damaging Het
Sun3 T A 11: 8,981,496 (GRCm39) Q36L possibly damaging Het
Tbc1d32 T C 10: 56,047,033 (GRCm39) H545R possibly damaging Het
Tcp11 A T 17: 28,296,994 (GRCm39) C133S probably benign Het
Tm6sf2 T C 8: 70,526,939 (GRCm39) V36A possibly damaging Het
Tmem108 T C 9: 103,376,717 (GRCm39) Y244C probably damaging Het
Tra2a A T 6: 49,227,949 (GRCm39) probably benign Het
Trpm3 A T 19: 22,903,332 (GRCm39) I1031F probably damaging Het
Ttll3 A G 6: 113,378,292 (GRCm39) K381E probably benign Het
Uaca T C 9: 60,778,430 (GRCm39) V937A probably benign Het
Umod C T 7: 119,071,577 (GRCm39) G388D probably damaging Het
Vmn2r90 G A 17: 17,924,412 (GRCm39) probably null Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp644 G A 5: 106,783,541 (GRCm39) T1002I probably damaging Het
Zfp738 A G 13: 67,819,131 (GRCm39) Y287H probably damaging Het
Zfyve16 T C 13: 92,644,771 (GRCm39) T1144A probably benign Het
Zgrf1 T C 3: 127,361,352 (GRCm39) probably null 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
R5582:Chek2 UTSW 5 111,015,901 (GRCm39) missense probably damaging 0.96
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'- AGCCACATGACTAATTTTGGGTAG -3'
(R):5'- TCCTGGGTAGACACTGTCTC -3'

Sequencing Primer
(F):5'- GTTATAGGAAACCTCGAGCTGCC -3'
(R):5'- TAGACACTGTCTCCAGCGAG -3'
Posted On 2016-08-04