Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02481:Cdkl2'

295219

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdkl2

Ensembl Gene

ENSMUSG00000029403

Gene Name

cyclin dependent kinase like 2

Synonyms

KKIAMRE, 5330436L21Rik, Kkm

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

92153933-92191742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92185130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 87 (I87N)

Ref Sequence

ENSEMBL: ENSMUSP00000108768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069937] [ENSMUST00000086978] [ENSMUST00000113140] [ENSMUST00000113143]

AlphaFold

Q9QUK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000069937
AA Change: I87N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
AA Change: I87N

Domain	Start	End	E-Value	Type
S_TKc	4	289	2.79e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086978
AA Change: I87N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: I87N

Domain	Start	End	E-Value	Type
S_TKc	4	289	2.79e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113140
AA Change: I87N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: I87N

Domain	Start	End	E-Value	Type
S_TKc	4	289	2.79e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113143
AA Change: I87N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
AA Change: I87N

Domain	Start	End	E-Value	Type
S_TKc	4	289	2.79e-95	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201895

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,223,854 (GRCm39)	V117I	probably benign	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Clca3a2	G	A	3: 144,790,701 (GRCm39)	S457L	possibly damaging	Het
Crim1	C	T	17: 78,658,227 (GRCm39)	T702I	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dspp	A	G	5: 104,323,514 (GRCm39)	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,795,914 (GRCm39)		probably benign	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868 (GRCm39)	Y873H	probably damaging	Het
Gsr	T	C	8: 34,175,569 (GRCm39)		probably benign	Het
Gtf2h1	T	C	7: 46,454,417 (GRCm39)	L133P	probably damaging	Het
Ifna5	A	C	4: 88,754,327 (GRCm39)	E189A	probably benign	Het
Irx5	A	G	8: 93,087,307 (GRCm39)	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,779,727 (GRCm39)	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kif19a	A	G	11: 114,679,979 (GRCm39)	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Krt78	C	A	15: 101,856,853 (GRCm39)		probably benign	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Mcm9	A	G	10: 53,502,033 (GRCm39)	I184T	probably damaging	Het
Mlycd	G	A	8: 120,137,073 (GRCm39)	R431H	probably damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Myof	G	T	19: 37,926,361 (GRCm39)	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Nnat	T	C	2: 157,403,167 (GRCm39)	F36S	possibly damaging	Het
Nsd3	C	A	8: 26,181,143 (GRCm39)	P915T	probably damaging	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or10k2	A	C	8: 84,268,015 (GRCm39)	M81L	possibly damaging	Het
Or1n1	A	T	2: 36,749,830 (GRCm39)	C177S	probably damaging	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4l1	G	A	14: 50,166,164 (GRCm39)	T279I	probably damaging	Het
Pkd1l3	A	G	8: 110,341,414 (GRCm39)	N89S	unknown	Het
Pkd2	T	C	5: 104,634,636 (GRCm39)	F556L	probably damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Ralgps1	G	A	2: 33,230,741 (GRCm39)	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Slc47a2	A	G	11: 61,227,067 (GRCm39)	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,432,112 (GRCm39)	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het
Zfhx4	G	A	3: 5,476,903 (GRCm39)	E3148K	probably damaging	Het

Other mutations in Cdkl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Cdkl2	APN	5	92,165,236 (GRCm39)	splice site	probably null
IGL02943:Cdkl2	APN	5	92,185,103 (GRCm39)	missense	possibly damaging	0.81
IGL03187:Cdkl2	APN	5	92,165,239 (GRCm39)	critical splice donor site	probably null
IGL03251:Cdkl2	APN	5	92,181,585 (GRCm39)	missense	probably damaging	1.00
R0422:Cdkl2	UTSW	5	92,168,171 (GRCm39)	missense	probably benign	0.02
R0616:Cdkl2	UTSW	5	92,156,863 (GRCm39)	missense	probably benign	0.12
R0764:Cdkl2	UTSW	5	92,168,136 (GRCm39)	missense	probably benign	0.00
R1023:Cdkl2	UTSW	5	92,187,145 (GRCm39)	missense	possibly damaging	0.58
R2338:Cdkl2	UTSW	5	92,181,538 (GRCm39)	missense	possibly damaging	0.92
R2497:Cdkl2	UTSW	5	92,156,857 (GRCm39)	missense	probably benign	0.44
R3926:Cdkl2	UTSW	5	92,180,998 (GRCm39)	missense	possibly damaging	0.62
R4444:Cdkl2	UTSW	5	92,168,168 (GRCm39)	missense	probably benign	0.10
R4445:Cdkl2	UTSW	5	92,168,168 (GRCm39)	missense	probably benign	0.10
R4446:Cdkl2	UTSW	5	92,168,168 (GRCm39)	missense	probably benign	0.10
R4647:Cdkl2	UTSW	5	92,165,072 (GRCm39)	missense	probably damaging	0.99
R4664:Cdkl2	UTSW	5	92,185,124 (GRCm39)	missense	probably damaging	0.99
R5478:Cdkl2	UTSW	5	92,187,108 (GRCm39)	nonsense	probably null
R5636:Cdkl2	UTSW	5	92,181,601 (GRCm39)	missense	probably benign	0.01
R6446:Cdkl2	UTSW	5	92,181,076 (GRCm39)	missense	probably damaging	1.00
R7051:Cdkl2	UTSW	5	92,181,084 (GRCm39)	missense	probably damaging	0.99
R7096:Cdkl2	UTSW	5	92,181,043 (GRCm39)	nonsense	probably null
R7388:Cdkl2	UTSW	5	92,167,318 (GRCm39)	missense	probably benign	0.01
R8871:Cdkl2	UTSW	5	92,164,989 (GRCm39)	missense	possibly damaging	0.67
R8993:Cdkl2	UTSW	5	92,170,010 (GRCm39)	missense	probably damaging	0.99
R9323:Cdkl2	UTSW	5	92,168,107 (GRCm39)	missense	probably benign	0.23
R9768:Cdkl2	UTSW	5	92,165,244 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16