Incidental Mutation 'R4748:Chek2'
ID 357280
Institutional Source Beutler Lab
Gene Symbol Chek2
Ensembl Gene ENSMUSG00000029521
Gene Name checkpoint kinase 2
Synonyms Rad53, CHK2
MMRRC Submission 042030-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4748 (G1)
Quality Score 200
Status Not validated
Chromosome 5
Chromosomal Location 110839979-110874145 bp(+) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 110855839 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066160] [ENSMUST00000199937]
AlphaFold Q9Z265
Predicted Effect probably null
Transcript: ENSMUST00000066160
SMART Domains Protein: ENSMUSP00000066679
Gene: ENSMUSG00000029521

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: ENSMUST00000199937
SMART Domains Protein: ENSMUSP00000143558
Gene: ENSMUSG00000029521

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,856,656 (GRCm38) E54D possibly damaging Het
4933415F23Rik T C 1: 23,101,870 (GRCm38) E121G probably damaging Het
Abcb6 C A 1: 75,177,358 (GRCm38) G367W probably damaging Het
Asprv1 A G 6: 86,628,423 (GRCm38) M84V probably damaging Het
Aspscr1 T C 11: 120,701,507 (GRCm38) V291A probably damaging Het
B4galnt4 T C 7: 141,071,720 (GRCm38) F980L probably damaging Het
Bpi G A 2: 158,272,021 (GRCm38) V280I possibly damaging Het
Bptf T C 11: 107,095,880 (GRCm38) D581G probably damaging Het
Cap2 T A 13: 46,639,826 (GRCm38) Y223N possibly damaging Het
Ccdc141 A C 2: 77,057,980 (GRCm38) I480M possibly damaging Het
Ccnh T A 13: 85,189,639 (GRCm38) V35E probably benign Het
Cd6 G T 19: 10,794,225 (GRCm38) S433* probably null Het
Ceacam10 A C 7: 24,781,052 (GRCm38) I83L probably benign Het
Chia1 A T 3: 106,122,449 (GRCm38) D73V probably damaging Het
Commd2 G A 3: 57,646,794 (GRCm38) T162I probably benign Het
Creb3l3 C T 10: 81,086,047 (GRCm38) A316T probably benign Het
Cul4a A G 8: 13,123,526 (GRCm38) K1R probably benign Het
Cyp2c23 T C 19: 44,016,737 (GRCm38) probably null Het
D630045J12Rik T C 6: 38,196,841 (GRCm38) T131A possibly damaging Het
Dctn4 A C 18: 60,550,236 (GRCm38) K295N probably damaging Het
Dnah1 A G 14: 31,319,945 (GRCm38) V23A probably benign Het
Dync1i1 A G 6: 5,767,048 (GRCm38) K91E possibly damaging Het
Dzip1l A G 9: 99,642,651 (GRCm38) D275G probably damaging Het
Enam C A 5: 88,501,543 (GRCm38) P304T probably damaging Het
Enpep A G 3: 129,332,163 (GRCm38) Y107H probably damaging Het
Exd2 T C 12: 80,480,576 (GRCm38) L27P probably damaging Het
Fam135b T A 15: 71,464,055 (GRCm38) D430V probably benign Het
Fam222b C T 11: 78,154,603 (GRCm38) T202I possibly damaging Het
Fmod T A 1: 134,041,174 (GRCm38) N317K probably damaging Het
Frem2 A G 3: 53,541,093 (GRCm38) F2301L probably damaging Het
Frem3 T C 8: 80,611,459 (GRCm38) F127S probably damaging Het
Gbp7 A G 3: 142,538,087 (GRCm38) S132G probably benign Het
Gm4787 A G 12: 81,378,056 (GRCm38) C443R probably damaging Het
Grik2 T C 10: 49,535,341 (GRCm38) M5V possibly damaging Het
Helb T C 10: 120,084,849 (GRCm38) D1063G probably benign Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Krt90 G A 15: 101,555,333 (GRCm38) L429F probably damaging Het
Lrr1 C A 12: 69,174,462 (GRCm38) T126K probably benign Het
Mgat4e C A 1: 134,542,028 (GRCm38) D93Y probably damaging Het
Mllt3 A T 4: 87,840,781 (GRCm38) S343R possibly damaging Het
Mms19 T A 19: 41,944,558 (GRCm38) S1031C probably damaging Het
Mtrf1 C T 14: 79,411,650 (GRCm38) H237Y probably damaging Het
Nckap1l T A 15: 103,473,056 (GRCm38) L408Q probably damaging Het
Oit3 A T 10: 59,424,082 (GRCm38) C500S probably damaging Het
Olfr1163 T A 2: 88,070,612 (GRCm38) I257L probably benign Het
Olfr1238 C T 2: 89,406,255 (GRCm38) V275I probably benign Het
Olfr273 A G 4: 52,856,076 (GRCm38) S146P possibly damaging Het
Olfr738 T G 14: 50,413,876 (GRCm38) L111V possibly damaging Het
Otud7a T C 7: 63,735,915 (GRCm38) S376P possibly damaging Het
Pabpc2 A T 18: 39,774,269 (GRCm38) K196* probably null Het
Paqr8 T A 1: 20,935,413 (GRCm38) C264S probably benign Het
Pgm2 T A 4: 99,981,979 (GRCm38) F459Y probably benign Het
Phip C A 9: 82,908,869 (GRCm38) V675L probably benign Het
Pnma1 T G 12: 84,147,723 (GRCm38) T69P probably benign Het
Ptpn12 A T 5: 21,005,385 (GRCm38) C242* probably null Het
Rabep1 T A 11: 70,908,468 (GRCm38) V306E probably benign Het
Ros1 C T 10: 52,115,997 (GRCm38) D1377N probably benign Het
Ryr3 T C 2: 112,964,405 (GRCm38) T121A possibly damaging Het
Scaf11 G A 15: 96,420,421 (GRCm38) Q421* probably null Het
Shcbp1 G A 8: 4,744,512 (GRCm38) T427M probably damaging Het
Shprh G A 10: 11,170,476 (GRCm38) R979H probably damaging Het
Slc22a27 C T 19: 7,925,876 (GRCm38) C163Y probably benign Het
Slc27a1 C T 8: 71,580,809 (GRCm38) T310M possibly damaging Het
Slc27a1 A G 8: 71,580,675 (GRCm38) D287G probably damaging Het
Slc29a3 A G 10: 60,716,326 (GRCm38) V313A probably benign Het
Slc35f2 A T 9: 53,771,785 (GRCm38) M1L probably benign Het
Sltm G C 9: 70,581,365 (GRCm38) R599T probably damaging Het
Spic T A 10: 88,675,890 (GRCm38) Q168L probably damaging Het
Spink6 G A 18: 44,082,361 (GRCm38) probably null Het
Stac2 T C 11: 98,041,372 (GRCm38) E235G possibly damaging Het
Szt2 G A 4: 118,389,191 (GRCm38) Q957* probably null Het
Them7 A T 2: 105,378,646 (GRCm38) T104S possibly damaging Het
Tmed4 T A 11: 6,271,716 (GRCm38) I207F possibly damaging Het
Tmem248 A G 5: 130,236,890 (GRCm38) E178G probably benign Het
Tomm40l G A 1: 171,219,562 (GRCm38) R296* probably null Het
Trim80 C A 11: 115,448,138 (GRCm38) T598N possibly damaging Het
Trim9 T C 12: 70,248,273 (GRCm38) N688D probably damaging Het
Vil1 C T 1: 74,421,266 (GRCm38) A194V probably damaging Het
Vmn2r61 A T 7: 42,267,141 (GRCm38) M393L probably damaging Het
Vmn2r63 C T 7: 42,928,120 (GRCm38) M331I probably benign Het
Vps33b G T 7: 80,290,048 (GRCm38) A516S probably damaging Het
Wisp1 C A 15: 66,906,640 (GRCm38) Y103* probably null Het
Zc3h6 G A 2: 129,002,240 (GRCm38) G235R probably damaging Het
Zfp612 T A 8: 110,088,672 (GRCm38) D170E probably benign Het
Zfp746 A G 6: 48,064,556 (GRCm38) I412T probably benign Het
Other mutations in Chek2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Chek2 APN 5 110,848,670 (GRCm38) missense probably damaging 1.00
IGL01830:Chek2 APN 5 110,873,508 (GRCm38) missense probably benign
IGL01943:Chek2 APN 5 110,841,227 (GRCm38) unclassified probably benign
IGL02319:Chek2 APN 5 110,867,011 (GRCm38) missense possibly damaging 0.88
IGL03147:Chek2 UTSW 5 110,848,670 (GRCm38) missense probably damaging 1.00
PIT4520001:Chek2 UTSW 5 110,863,329 (GRCm38) missense probably damaging 1.00
R1484:Chek2 UTSW 5 110,848,687 (GRCm38) missense probably damaging 1.00
R1486:Chek2 UTSW 5 110,841,227 (GRCm38) unclassified probably benign
R1732:Chek2 UTSW 5 110,872,102 (GRCm38) missense probably benign 0.26
R2041:Chek2 UTSW 5 110,848,664 (GRCm38) missense probably damaging 1.00
R2071:Chek2 UTSW 5 110,841,246 (GRCm38) unclassified probably benign
R2873:Chek2 UTSW 5 110,863,336 (GRCm38) nonsense probably null
R2935:Chek2 UTSW 5 110,868,020 (GRCm38) missense probably damaging 1.00
R3899:Chek2 UTSW 5 110,865,613 (GRCm38) splice site probably benign
R4662:Chek2 UTSW 5 110,867,042 (GRCm38) missense probably damaging 1.00
R5358:Chek2 UTSW 5 110,841,282 (GRCm38) unclassified probably benign
R5582:Chek2 UTSW 5 110,868,035 (GRCm38) missense probably damaging 0.96
R5594:Chek2 UTSW 5 110,855,834 (GRCm38) critical splice donor site probably null
R6526:Chek2 UTSW 5 110,848,690 (GRCm38) missense probably damaging 1.00
R6972:Chek2 UTSW 5 110,855,839 (GRCm38) splice site probably null
R7232:Chek2 UTSW 5 110,860,915 (GRCm38) missense probably damaging 1.00
R7338:Chek2 UTSW 5 110,873,514 (GRCm38) missense probably benign
R7395:Chek2 UTSW 5 110,872,108 (GRCm38) critical splice donor site probably null
R7714:Chek2 UTSW 5 110,841,453 (GRCm38) missense probably benign 0.10
R7743:Chek2 UTSW 5 110,840,050 (GRCm38) critical splice donor site probably null
R8290:Chek2 UTSW 5 110,860,900 (GRCm38) missense possibly damaging 0.70
R8297:Chek2 UTSW 5 110,848,436 (GRCm38) missense probably damaging 1.00
R8719:Chek2 UTSW 5 110,867,042 (GRCm38) missense probably damaging 0.98
R8898:Chek2 UTSW 5 110,863,309 (GRCm38) missense probably benign 0.00
R8906:Chek2 UTSW 5 110,865,592 (GRCm38) utr 3 prime probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11