Mutagenetix > Incidental Mutation

Incidental Mutation 'R8993:Cdkl2'

684534

Institutional Source

Beutler Lab

Gene Symbol

Cdkl2

Ensembl Gene

ENSMUSG00000029403

Gene Name

cyclin dependent kinase like 2

Synonyms

KKIAMRE, 5330436L21Rik, Kkm

MMRRC Submission

068824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92153933-92191742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92170010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 324 (K324N)

Ref Sequence

ENSEMBL: ENSMUSP00000084199 (fasta)

Gene Model

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

AlphaFold

Q9QUK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000069937
AA Change: K324N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
AA Change: K324N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086978
AA Change: K324N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: K324N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113140
AA Change: K324N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: K324N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113143
AA Change: K324N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
AA Change: K324N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201357

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,841,842 (GRCm39)	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,615,491 (GRCm39)	E155*	probably null	Het
Acaa1a	A	T	9: 119,178,418 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,008,835 (GRCm39)	E864G	probably null	Het
Adcy4	T	C	14: 56,016,156 (GRCm39)	D387G	probably damaging	Het
Ank1	C	T	8: 23,588,955 (GRCm39)	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,371,495 (GRCm39)	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,355,525 (GRCm39)	Y699F	probably benign	Het
BB014433	C	T	8: 15,092,101 (GRCm39)	V251M	probably damaging	Het
Bcan	G	A	3: 87,901,529 (GRCm39)	A391V	probably benign	Het
Bod1l	A	C	5: 41,974,210 (GRCm39)	V2368G	probably benign	Het
Braf	A	G	6: 39,639,085 (GRCm39)	V222A	probably damaging	Het
Cd33	G	T	7: 43,182,871 (GRCm39)		probably benign	Het
Celf6	A	T	9: 59,510,154 (GRCm39)	T199S	probably damaging	Het
Cmtm4	A	C	8: 105,081,798 (GRCm39)	D196E	probably benign	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451 (GRCm39)	P921H	unknown	Het
Crmp1	T	C	5: 37,399,490 (GRCm39)	M1T	probably null	Het
Dnah7a	A	T	1: 53,543,262 (GRCm39)	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,551,888 (GRCm39)	T650K	probably benign	Het
Eif1ad15	A	G	12: 88,288,170 (GRCm39)	F28L	probably benign	Het
Fam24a	A	G	7: 130,938,269 (GRCm39)	D53G	probably benign	Het
Foxa2	A	T	2: 147,886,626 (GRCm39)	M69K	probably benign	Het
Gatad2a	T	A	8: 70,362,585 (GRCm39)	H601L	probably damaging	Het
Gimap4	A	C	6: 48,667,539 (GRCm39)	D98A	probably damaging	Het
Gm14295	G	T	2: 176,501,623 (GRCm39)	R371L	possibly damaging	Het
Golim4	G	T	3: 75,785,435 (GRCm39)	A652E	probably benign	Het
Grid1	A	G	14: 34,748,899 (GRCm39)	I240V	probably benign	Het
Iqsec3	T	A	6: 121,390,272 (GRCm39)	T400S	unknown	Het
Itk	G	A	11: 46,225,735 (GRCm39)	R539C	probably damaging	Het
Kif27	T	A	13: 58,473,912 (GRCm39)	D695V	possibly damaging	Het
Krt79	T	C	15: 101,839,441 (GRCm39)		probably benign	Het
Lama2	C	A	10: 27,298,710 (GRCm39)	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,696,392 (GRCm39)	E552D	possibly damaging	Het
Mpp3	A	G	11: 101,891,491 (GRCm39)	I549T	probably benign	Het
Nat1	T	C	8: 67,944,394 (GRCm39)	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,983 (GRCm39)	K69*	probably null	Het
Nlrx1	G	T	9: 44,168,238 (GRCm39)		probably benign	Het
Pde1b	C	A	15: 103,429,852 (GRCm39)	A115E	probably benign	Het
Pde4dip	A	G	3: 97,673,810 (GRCm39)	Y369H	probably damaging	Het
Pnpla7	A	G	2: 24,943,431 (GRCm39)	Y1286C	possibly damaging	Het
Poglut2	G	T	1: 44,151,924 (GRCm39)	L322I	possibly damaging	Het
Pramel5	T	C	4: 143,999,529 (GRCm39)	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,607,386 (GRCm39)	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,357,918 (GRCm39)	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,022,369 (GRCm39)	E568V	probably benign	Het
Slc6a18	T	A	13: 73,816,390 (GRCm39)	I330F	probably benign	Het
Spesp1	T	C	9: 62,180,552 (GRCm39)	T119A	possibly damaging	Het
Sypl1	G	A	12: 33,025,662 (GRCm39)	S242N	probably benign	Het
Tbx18	G	A	9: 87,612,770 (GRCm39)	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,113,956 (GRCm39)	D263V	probably damaging	Het
Trbv21	T	C	6: 41,179,924 (GRCm39)	I80T	probably damaging	Het
Ttc3	T	A	16: 94,228,667 (GRCm39)	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,707,813 (GRCm39)	D498G	possibly damaging	Het
Ttn	T	C	2: 76,583,714 (GRCm39)	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,321,637 (GRCm39)	S388R		Het
Vmn2r118	A	T	17: 55,917,835 (GRCm39)	L226I	possibly damaging	Het
Wdr46	A	G	17: 34,168,156 (GRCm39)	H576R	probably benign	Het
Zfp426	A	G	9: 20,386,296 (GRCm39)	F62L	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
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
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
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'- TGCAACCAAGTTGACAGTTAAC -3'
(R):5'- AGGAACTAGTCATCTGGGATGG -3'

Sequencing Primer
(F):5'- GGACTAAGATTTGATTGCCAGCACC -3'
(R):5'- ACTAGTCATCTGGGATGGGATTTTTC -3'

Posted On

2021-10-11