Incidental Mutation 'R2071:Chek2'
ID 227127
Institutional Source Beutler Lab
Gene Symbol Chek2
Ensembl Gene ENSMUSG00000029521
Gene Name checkpoint kinase 2
Synonyms CHK2, Rad53
MMRRC Submission 040076-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2071 (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 110989112 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: S12P
SMART Domains Protein: ENSMUSP00000066679
Gene: ENSMUSG00000029521
AA Change: S12P

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: S12P
Predicted Effect unknown
Transcript: ENSMUST00000199937
AA Change: S12P
SMART Domains Protein: ENSMUSP00000143558
Gene: ENSMUSG00000029521
AA Change: S12P

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: S12P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200630
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,474 (GRCm39) H283Q probably damaging Het
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Adam33 T C 2: 130,897,266 (GRCm39) T310A probably benign Het
Afm A G 5: 90,671,594 (GRCm39) D92G probably benign Het
Arg1 C T 10: 24,798,561 (GRCm39) A30T probably benign Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
Atg2a T C 19: 6,307,488 (GRCm39) V1474A probably benign Het
Atp12a A G 14: 56,603,466 (GRCm39) K24E probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cep295 T C 9: 15,252,860 (GRCm39) R323G probably damaging Het
Chga A T 12: 102,529,122 (GRCm39) K366N probably damaging Het
Chrm5 T C 2: 112,309,572 (GRCm39) K515E probably null Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Eif1ad8 T A 12: 87,563,822 (GRCm39) F52L probably benign Het
Fzd3 A G 14: 65,473,012 (GRCm39) F252S probably damaging Het
Gas2l2 T C 11: 83,312,775 (GRCm39) K846E probably benign Het
Gpatch11 T C 17: 79,148,514 (GRCm39) probably null Het
Gucy2g T A 19: 55,210,772 (GRCm39) Y661F possibly damaging Het
Hhip A G 8: 80,783,931 (GRCm39) F72L probably benign Het
Kat14 T C 2: 144,231,136 (GRCm39) L181P probably damaging Het
Kifc3 A T 8: 95,834,981 (GRCm39) probably null Het
Kntc1 G T 5: 123,932,340 (GRCm39) probably null Het
Man2b1 G T 8: 85,812,013 (GRCm39) V156L possibly damaging Het
Mast1 T C 8: 85,647,823 (GRCm39) D517G probably damaging Het
Mc1r T C 8: 124,135,108 (GRCm39) L287P possibly damaging Het
Mctp1 A T 13: 76,907,843 (GRCm39) E238V probably damaging Het
Mmp12 T A 9: 7,349,725 (GRCm39) I52N probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Nap1l1 C T 10: 111,328,761 (GRCm39) T230I possibly damaging Het
Niban1 T C 1: 151,512,181 (GRCm39) F28L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Nudt13 T A 14: 20,354,045 (GRCm39) D36E probably damaging Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pde10a A T 17: 9,180,827 (GRCm39) I754F probably benign Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Pgap6 T C 17: 26,341,017 (GRCm39) Y176H probably damaging Het
Polr1a T A 6: 71,953,058 (GRCm39) V567E possibly damaging Het
Pou3f2 A G 4: 22,488,076 (GRCm39) V19A probably benign Het
Pramel34 T G 5: 93,784,375 (GRCm39) Q363P probably damaging Het
Pth1r A G 9: 110,556,081 (GRCm39) I264T probably benign Het
Ptprn C A 1: 75,231,788 (GRCm39) G504C probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rev3l T A 10: 39,700,349 (GRCm39) D1615E probably benign Het
Rhob A G 12: 8,549,232 (GRCm39) M134T probably benign Het
Slc10a4 T C 5: 73,164,840 (GRCm39) L144P probably damaging Het
Slc45a3 T C 1: 131,905,370 (GRCm39) L131P probably damaging Het
Slf1 T A 13: 77,252,743 (GRCm39) E259D probably benign Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Sorl1 T C 9: 41,890,753 (GRCm39) D1922G possibly damaging Het
Spats2l T A 1: 57,979,623 (GRCm39) I243N possibly damaging Het
Specc1 A C 11: 62,008,701 (GRCm39) K152N probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tcstv2b A T 13: 120,373,836 (GRCm39) D151E probably benign Het
Tep1 T C 14: 51,091,739 (GRCm39) K601E probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ttc39d G A 17: 80,524,030 (GRCm39) G230R probably damaging Het
Tubb2b T A 13: 34,312,244 (GRCm39) Y183F probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Vcp A G 4: 42,995,894 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,658,995 (GRCm39) F70L probably benign Het
Vmn1r49 C T 6: 90,049,184 (GRCm39) V273I probably benign Het
Vmn2r103 A T 17: 20,014,056 (GRCm39) I283L probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfp408 A G 2: 91,476,363 (GRCm39) F364L probably damaging Het
Zfyve26 A G 12: 79,334,220 (GRCm39) L266P possibly 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
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
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'- GCCACATGACTAATTTTGGGTAGAG -3'
(R):5'- AGCTCAGAGTCCCAGAACTG -3'

Sequencing Primer
(F):5'- GTTATAGGAAACCTCGAGCTGCC -3'
(R):5'- CTGGAGTGCGAGGACTGG -3'
Posted On 2014-09-17