Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Cdkl2'

440365

Institutional Source

Beutler Lab

Gene Symbol

Cdkl2

Ensembl Gene

ENSMUSG00000029403

Gene Name

cyclin-dependent kinase-like 2 (CDC2-related kinase)

Synonyms

5330436L21Rik, KKIAMRE, Kkm

MMRRC Submission

043287-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92006074-92043883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92033742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 127 (I127V)

Ref Sequence

ENSEMBL: ENSMUSP00000108768 (fasta)

Gene Model

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

AlphaFold

Q9QUK0

Predicted Effect

probably benign
Transcript: ENSMUST00000069937
AA Change: I127V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
AA Change: I127V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000086978
AA Change: I127V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: I127V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113140
AA Change: I127V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: I127V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113143
AA Change: I127V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
AA Change: I127V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201357

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,944,982	Q448*	probably null	Het
Abca5	A	G	11: 110,301,536	Y717H	probably benign	Het
Abcg2	T	A	6: 58,672,056	D295E	probably damaging	Het
Accsl	C	T	2: 93,869,025	E7K	probably benign	Het
Acvr2b	A	G	9: 119,428,309	Y152C	probably damaging	Het
Akap13	A	G	7: 75,704,372	E1747G	probably damaging	Het
Arpp19	C	T	9: 75,037,933		probably benign	Het
Atp10d	A	G	5: 72,288,219	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,886,385		probably benign	Het
Bms1	C	A	6: 118,388,825	M1133I	probably benign	Het
Bysl	A	C	17: 47,602,723	D259E	probably benign	Het
Capn1	A	T	19: 6,014,442	V9E	probably benign	Het
Cyp2c38	G	A	19: 39,438,306	Q184*	probably null	Het
Cypt12	C	T	3: 17,948,585	R41C	probably benign	Het
Fat2	T	C	11: 55,282,481	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,511,018	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,956,686	C148R	probably damaging	Het
Gpd1	A	T	15: 99,722,058	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,130,945	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,163,456	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,201,301	T35A	probably benign	Het
Lgr6	T	C	1: 134,987,078	D644G	probably benign	Het
Lrrc6	A	T	15: 66,500,816		probably null	Het
Mdn1	C	T	4: 32,695,480	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,901,240	V221A	probably damaging	Het
Mrgprb4	A	G	7: 48,198,470	C237R	probably benign	Het
Myo1b	A	G	1: 51,797,528	M264T	probably damaging	Het
Naxd	A	G	8: 11,502,676	N32S	probably benign	Het
Nlrp12	A	T	7: 3,225,294	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Nuggc	A	T	14: 65,648,188	K755*	probably null	Het
Olfr1501	C	T	19: 13,838,337	V279M	possibly damaging	Het
Olfr332	T	C	11: 58,490,051	K235E	probably damaging	Het
Pik3ca	G	A	3: 32,461,560	R794Q	probably damaging	Het
Pnp2	A	G	14: 50,956,192		probably null	Het
Ric3	G	A	7: 109,038,820	T242I	probably damaging	Het
Rnf213	G	A	11: 119,436,629	R1814K	probably benign	Het
Rnf213	A	C	11: 119,436,905	Q1906P	probably damaging	Het
Rufy2	T	A	10: 62,997,954	I265N	probably damaging	Het
Scap	G	T	9: 110,380,594	G744C	probably damaging	Het
Serpinb3c	T	C	1: 107,275,014	Q88R	possibly damaging	Het
Sf3b1	T	C	1: 54,997,193	D907G	probably damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,554,216	L749F	possibly damaging	Het
Smtn	T	G	11: 3,517,829		probably null	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Sptbn5	G	A	2: 120,057,404		probably benign	Het
Stam	G	T	2: 14,117,427	M112I	probably damaging	Het
Tex35	C	T	1: 157,100,224	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394	E157G	probably damaging	Het
Traf6	G	A	2: 101,696,909	V335M	probably benign	Het
Ubr5	T	A	15: 37,983,996	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,954,429	H605R	probably damaging	Het

Other mutations in Cdkl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Cdkl2	APN	5	92017377	splice site	probably null
IGL02481:Cdkl2	APN	5	92037271	missense	probably damaging	1.00
IGL02943:Cdkl2	APN	5	92037244	missense	possibly damaging	0.81
IGL03187:Cdkl2	APN	5	92017380	critical splice donor site	probably null
IGL03251:Cdkl2	APN	5	92033726	missense	probably damaging	1.00
R0422:Cdkl2	UTSW	5	92020312	missense	probably benign	0.02
R0616:Cdkl2	UTSW	5	92009004	missense	probably benign	0.12
R0764:Cdkl2	UTSW	5	92020277	missense	probably benign	0.00
R1023:Cdkl2	UTSW	5	92039286	missense	possibly damaging	0.58
R2338:Cdkl2	UTSW	5	92033679	missense	possibly damaging	0.92
R2497:Cdkl2	UTSW	5	92008998	missense	probably benign	0.44
R3926:Cdkl2	UTSW	5	92033139	missense	possibly damaging	0.62
R4444:Cdkl2	UTSW	5	92020309	missense	probably benign	0.10
R4445:Cdkl2	UTSW	5	92020309	missense	probably benign	0.10
R4446:Cdkl2	UTSW	5	92020309	missense	probably benign	0.10
R4647:Cdkl2	UTSW	5	92017213	missense	probably damaging	0.99
R4664:Cdkl2	UTSW	5	92037265	missense	probably damaging	0.99
R5478:Cdkl2	UTSW	5	92039249	nonsense	probably null
R6446:Cdkl2	UTSW	5	92033217	missense	probably damaging	1.00
R7051:Cdkl2	UTSW	5	92033225	missense	probably damaging	0.99
R7096:Cdkl2	UTSW	5	92033184	nonsense	probably null
R7388:Cdkl2	UTSW	5	92019459	missense	probably benign	0.01
R8871:Cdkl2	UTSW	5	92017130	missense	possibly damaging	0.67
R8993:Cdkl2	UTSW	5	92022151	missense	probably damaging	0.99
R9323:Cdkl2	UTSW	5	92020248	missense	probably benign	0.23
R9768:Cdkl2	UTSW	5	92017385	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTCAAAGAGCAGGCGTCAC -3'
(R):5'- ACTGAAAGTTGATCTGTTGGCTAG -3'

Sequencing Primer
(F):5'- CAGGCGTCACTCCTGCC -3'
(R):5'- GGCTAGTTTAACAGATGCTTGAAAC -3'

Posted On

2016-11-08