Mutagenetix > Incidental Mutation

Incidental Mutation 'R2497:Cdkl2'

251044

Institutional Source

Beutler Lab

Gene Symbol

Cdkl2

Ensembl Gene

ENSMUSG00000029403

Gene Name

cyclin dependent kinase like 2

Synonyms

KKIAMRE, 5330436L21Rik, Kkm

MMRRC Submission

040411-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92153933-92191742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92156857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 566 (H566L)

Ref Sequence

ENSEMBL: ENSMUSP00000108765 (fasta)

Gene Model

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

AlphaFold

Q9QUK0

Predicted Effect

probably benign
Transcript: ENSMUST00000069937

SMART Domains

Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403

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

Predicted Effect

probably benign
Transcript: ENSMUST00000086978
AA Change: H566L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: H566L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113140
AA Change: H566L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: H566L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113143

SMART Domains

Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136037

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (60/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,612 (GRCm38)	V295A	probably benign	Het
Agrn	T	C	4: 156,258,268 (GRCm39)	E959G	probably benign	Het
Aqp5	T	C	15: 99,489,180 (GRCm39)	F10L	possibly damaging	Het
Arhgap39	C	A	15: 76,609,585 (GRCm39)	V1025L	probably damaging	Het
Atg4d	C	T	9: 21,184,682 (GRCm39)	R459*	probably null	Het
Atp11b	A	G	3: 35,909,294 (GRCm39)	S1163G	probably damaging	Het
Atp13a5	G	T	16: 29,157,889 (GRCm39)	S173*	probably null	Het
Atp6v1g2	T	A	17: 35,455,762 (GRCm39)	I8N	probably damaging	Het
Ccdc77	C	T	6: 120,302,433 (GRCm39)	G430R	possibly damaging	Het
Cdc34b	A	G	11: 94,633,207 (GRCm39)	T136A	probably benign	Het
Cdkal1	A	G	13: 29,658,524 (GRCm39)	S23P	unknown	Het
Cers6	T	C	2: 68,901,790 (GRCm39)		probably benign	Het
Cfap251	T	C	5: 123,421,432 (GRCm39)	V98A	probably damaging	Het
Clspn	A	G	4: 126,466,140 (GRCm39)	T557A	possibly damaging	Het
Cmya5	T	C	13: 93,234,513 (GRCm39)	T192A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah17	T	G	11: 117,977,850 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,960,339 (GRCm39)	Q2239*	probably null	Het
Dscaml1	T	C	9: 45,656,376 (GRCm39)	V1572A	probably benign	Het
Elfn2	C	G	15: 78,558,464 (GRCm39)	E28Q	probably damaging	Het
Enam	T	A	5: 88,650,553 (GRCm39)	N687K	probably benign	Het
Flywch1	G	A	17: 23,974,685 (GRCm39)	R652W	probably benign	Het
Gm5612	T	C	9: 18,338,975 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Mmp3	A	G	9: 7,450,131 (GRCm39)	T288A	probably benign	Het
Mtmr4	T	A	11: 87,491,649 (GRCm39)	F168L	probably damaging	Het
Mtres1	T	C	10: 43,401,263 (GRCm39)		probably benign	Het
Myo1d	T	A	11: 80,565,647 (GRCm39)	N393Y	probably damaging	Het
Nacc2	A	T	2: 25,979,580 (GRCm39)	Y285*	probably null	Het
Nf1	G	T	11: 79,334,710 (GRCm39)	G844V	probably damaging	Het
Nox4	T	A	7: 86,945,084 (GRCm39)	Y113*	probably null	Het
Pcdha3	T	C	18: 37,080,556 (GRCm39)	C433R	probably benign	Het
Pde6c	A	G	19: 38,142,142 (GRCm39)	I358V	probably damaging	Het
Pdgfrb	A	T	18: 61,211,700 (GRCm39)	D819V	possibly damaging	Het
Phf3	C	A	1: 30,869,095 (GRCm39)	R651L	probably damaging	Het
Prrx1	A	G	1: 163,075,834 (GRCm39)	V244A	possibly damaging	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rab27a	T	C	9: 72,992,263 (GRCm39)	L97P	probably damaging	Het
Rnf20	G	A	4: 49,652,676 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,447,958 (GRCm39)	N259S	probably benign	Het
Serpinb9d	T	C	13: 33,380,500 (GRCm39)	S129P	probably damaging	Het
Slc1a4	T	C	11: 20,282,620 (GRCm39)		probably benign	Het
Smyd2	T	A	1: 189,617,534 (GRCm39)	N300I	possibly damaging	Het
Snd1	A	G	6: 28,888,078 (GRCm39)	I875V	probably benign	Het
Ssh1	T	C	5: 114,096,919 (GRCm39)	N174S	probably damaging	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Tanc2	T	C	11: 105,564,319 (GRCm39)		probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tpcn1	C	T	5: 120,677,063 (GRCm39)		probably null	Het
Unc45b	A	T	11: 82,827,269 (GRCm39)	I699F	probably damaging	Het
Uspl1	C	T	5: 149,124,664 (GRCm39)	P27L	probably damaging	Het
Ylpm1	C	G	12: 85,043,535 (GRCm39)	P91R	probably damaging	Het
Zdhhc23	G	A	16: 43,794,278 (GRCm39)	T132M	probably damaging	Het
Zfp148	T	C	16: 33,316,755 (GRCm39)	Y434H	probably damaging	Het
Zhx2	T	C	15: 57,686,551 (GRCm39)	V640A	possibly 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
IGL02481:Cdkl2	APN	5	92,185,130 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTACAGGGGAAAGACTAATCCT -3'
(R):5'- GGGGCCTCTTACTTCATCCT -3'

Sequencing Primer
(F):5'- TGAAGACAGACATGTTCCCCTGG -3'
(R):5'- TCATCCTTTTTCATGAAAGCAATTC -3'

Posted On

2014-12-04