Mutagenetix > Incidental Mutation

Incidental Mutation 'R3899:Chek2'

308862

Institutional Source

Beutler Lab

Gene Symbol

Chek2

Ensembl Gene

ENSMUSG00000029521

Gene Name

checkpoint kinase 2

Synonyms

CHK2, Rad53

MMRRC Submission

040809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110987845-111022011 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 111013479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066160] [ENSMUST00000199937]

AlphaFold

Q9Z265

Predicted Effect

probably benign
Transcript: ENSMUST00000066160

SMART Domains

Protein: ENSMUSP00000066679
Gene: ENSMUSG00000029521

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	2	37	N/A	INTRINSIC
low complexity region	41	72	N/A	INTRINSIC
FHA	116	179	2.6e-5	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (62/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,399,157 (GRCm39)		probably benign	Het
Ahctf1	A	G	1: 179,605,345 (GRCm39)	S730P	possibly damaging	Het
Ankrd26	T	A	6: 118,526,389 (GRCm39)	R327S	probably benign	Het
Anpep	A	G	7: 79,488,973 (GRCm39)	S372P	probably benign	Het
Apob	A	T	12: 8,065,849 (GRCm39)	I4273F	possibly damaging	Het
Ascl1	G	T	10: 87,328,435 (GRCm39)	H172Q	probably benign	Het
Azi2	A	G	9: 117,876,571 (GRCm39)	Y29C	probably damaging	Het
Baz1a	A	G	12: 54,981,589 (GRCm39)	M355T	probably benign	Het
Brs3	G	A	X: 56,092,616 (GRCm39)	V367M	possibly damaging	Het
Ccdc33	T	C	9: 57,940,200 (GRCm39)	D524G	probably damaging	Het
Cd300lf	T	C	11: 115,015,177 (GRCm39)	T138A	probably damaging	Het
Cemip2	A	G	19: 21,829,598 (GRCm39)	T1236A	probably benign	Het
Ces1g	T	C	8: 94,029,678 (GRCm39)	Y518C	probably damaging	Het
Cherp	A	G	8: 73,223,780 (GRCm39)	I201T	possibly damaging	Het
Cntnap2	A	T	6: 45,968,837 (GRCm39)	H193L	probably benign	Het
Crim1	C	A	17: 78,588,783 (GRCm39)	T286N	probably benign	Het
Cwc27	T	A	13: 104,929,023 (GRCm39)	K307*	probably null	Het
Dbx2	T	C	15: 95,530,313 (GRCm39)	D218G	possibly damaging	Het
Dclk1	G	A	3: 55,154,750 (GRCm39)	R60Q	probably damaging	Het
Dnah17	A	T	11: 117,985,634 (GRCm39)	I1481N	possibly damaging	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dpp10	A	T	1: 123,281,286 (GRCm39)	W588R	probably damaging	Het
Epg5	G	A	18: 78,000,725 (GRCm39)	E554K	probably damaging	Het
Eya1	T	C	1: 14,340,971 (GRCm39)	T139A	probably benign	Het
Fchsd2	A	G	7: 100,841,006 (GRCm39)	K172E	possibly damaging	Het
Foxd3	A	G	4: 99,545,736 (GRCm39)	Y292C	unknown	Het
Gli1	C	T	10: 127,172,535 (GRCm39)	M202I	possibly damaging	Het
Gm973	T	C	1: 59,664,299 (GRCm39)	Y634H	probably benign	Het
Gpr132	G	T	12: 112,815,728 (GRCm39)	A366E	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	C	T	15: 65,902,372 (GRCm39)	M201I	probably benign	Het
Khdc3	T	C	9: 73,011,628 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,388,372 (GRCm39)	V2351A	unknown	Het
Mmrn2	G	T	14: 34,121,517 (GRCm39)		probably null	Het
Mtr	A	T	13: 12,231,735 (GRCm39)	N656K	probably benign	Het
Mtus1	T	C	8: 41,536,166 (GRCm39)	T517A	probably benign	Het
Osgep	G	C	14: 51,162,200 (GRCm39)	N12K	probably damaging	Het
Pcare	A	T	17: 72,057,155 (GRCm39)	C841S	probably benign	Het
Prdx3	T	A	19: 60,853,621 (GRCm39)	T235S	probably benign	Het
Rasa3	G	A	8: 13,628,635 (GRCm39)	H608Y	probably benign	Het
Rd3	T	C	1: 191,717,217 (GRCm39)	V114A	probably damaging	Het
Setd2	C	T	9: 110,421,586 (GRCm39)	R273W	probably damaging	Het
Slc24a1	A	T	9: 64,835,426 (GRCm39)	S900R	probably damaging	Het
Slc30a5	T	C	13: 100,954,655 (GRCm39)	M170V	probably benign	Het
Slc4a9	T	C	18: 36,668,616 (GRCm39)	V732A	probably benign	Het
Slc7a2	C	T	8: 41,358,590 (GRCm39)	T311M	possibly damaging	Het
Smarcc1	T	C	9: 109,947,586 (GRCm39)		probably benign	Het
Stk32b	A	G	5: 37,614,498 (GRCm39)	S337P	probably damaging	Het
Thop1	G	A	10: 80,916,278 (GRCm39)	G429S	probably damaging	Het
Timp2	C	T	11: 118,194,542 (GRCm39)	D139N	probably damaging	Het
Tmem45a	T	C	16: 56,627,101 (GRCm39)	E256G	probably damaging	Het
Tox4	T	A	14: 52,517,299 (GRCm39)	Y10N	probably damaging	Het
Trpm3	A	G	19: 22,878,524 (GRCm39)	M642V	possibly damaging	Het
Ttll10	T	C	4: 156,120,257 (GRCm39)	T508A	probably damaging	Het
Tut7	T	A	13: 59,937,069 (GRCm39)	K791*	probably null	Het
Ubash3b	C	T	9: 40,942,860 (GRCm39)	D211N	probably benign	Het
Usp36	T	A	11: 118,170,650 (GRCm39)	D28V	possibly damaging	Het
Vmn2r97	T	C	17: 19,167,873 (GRCm39)	I709T	probably damaging	Het
Zfp936	T	A	7: 42,839,158 (GRCm39)	N207K	possibly damaging	Het
Zfp946	T	G	17: 22,673,531 (GRCm39)	I95S	probably benign	Het
Zhx3	A	T	2: 160,622,371 (GRCm39)	S599T	possibly damaging	Het

Other mutations in Chek2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTCTAAGTGCTCAGGCCTGG -3'
(R):5'- CAGAAGTGGCTTGTATGCTCTG -3'

Sequencing Primer
(F):5'- TGCTGCTGCACCATATAGC -3'
(R):5'- GGAGTTCAGTAACTGCCCATTAG -3'

Posted On

2015-04-17