Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00941:Clk2'

27113

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clk2

Ensembl Gene

ENSMUSG00000068917

Gene Name

CDC-like kinase 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

89072102-89084228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89082729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 393 (M393V)

Ref Sequence

ENSEMBL: ENSMUSP00000113861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029684] [ENSMUST00000090927] [ENSMUST00000098941] [ENSMUST00000120697] [ENSMUST00000121212] [ENSMUST00000121931] [ENSMUST00000128318] [ENSMUST00000148265]

AlphaFold

O35491

Predicted Effect

probably benign
Transcript: ENSMUST00000029684

SMART Domains

Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049

Domain	Start	End	E-Value	Type
low complexity region	49	69	N/A	INTRINSIC
coiled coil region	89	127	N/A	INTRINSIC
Pfam:SCAMP	133	310	1.5e-76	PFAM
low complexity region	329	348	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000090927
AA Change: M391V

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

SMART Domains

Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
AA Change: M391V

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	72	N/A	INTRINSIC
low complexity region	105	137	N/A	INTRINSIC
S_TKc	161	477	1.46e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098941

SMART Domains

Protein: ENSMUSP00000096540
Gene: ENSMUSG00000028049

Domain	Start	End	E-Value	Type
low complexity region	49	69	N/A	INTRINSIC
coiled coil region	89	127	N/A	INTRINSIC
Pfam:SCAMP	133	229	5.5e-46	PFAM
Pfam:SCAMP	227	276	2.2e-11	PFAM
low complexity region	295	314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120697

SMART Domains

Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049

Domain	Start	End	E-Value	Type
low complexity region	50	70	N/A	INTRINSIC
coiled coil region	90	128	N/A	INTRINSIC
Pfam:SCAMP	135	310	1.1e-67	PFAM
low complexity region	330	349	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121212
AA Change: M392V

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

SMART Domains

Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
AA Change: M392V

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	73	N/A	INTRINSIC
low complexity region	106	138	N/A	INTRINSIC
S_TKc	162	478	1.46e-75	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121931
AA Change: M393V

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

SMART Domains

Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
AA Change: M393V

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	73	N/A	INTRINSIC
low complexity region	106	142	N/A	INTRINSIC
S_TKc	163	479	1.46e-75	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139221

Predicted Effect

probably benign
Transcript: ENSMUST00000128318

SMART Domains

Protein: ENSMUSP00000115761
Gene: ENSMUSG00000068917

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	73	N/A	INTRINSIC
low complexity region	103	133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148265

SMART Domains

Protein: ENSMUSP00000122634
Gene: ENSMUSG00000068917

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	73	N/A	INTRINSIC
low complexity region	106	138	N/A	INTRINSIC
Pfam:Pkinase	162	249	7.4e-12	PFAM

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 encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a conditional allele activated in the liver exhibit decreased hepatic fatty acid oxidation and ketogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Targeted, other(1) Gene trapped(11)

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,536,104 (GRCm39)	I521S	probably damaging	Het
Ace	A	T	11: 105,870,376 (GRCm39)	K265I	probably benign	Het
Acss3	A	G	10: 106,889,187 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,153,082 (GRCm39)	Y215H	probably damaging	Het
Cyc1	A	G	15: 76,229,365 (GRCm39)	I242V	probably benign	Het
Evpl	G	A	11: 116,118,727 (GRCm39)	L657F	probably benign	Het
Fbxw10	G	A	11: 62,764,327 (GRCm39)	V675M	probably damaging	Het
Fgf21	A	G	7: 45,264,597 (GRCm39)	V45A	probably damaging	Het
Gm5134	T	C	10: 75,836,255 (GRCm39)	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,208,749 (GRCm39)		probably benign	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna12	A	T	4: 88,521,551 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,389,856 (GRCm39)	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,307,794 (GRCm39)	V73I	probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Mical2	T	C	7: 111,920,652 (GRCm39)		probably benign	Het
Mllt1	A	T	17: 57,202,086 (GRCm39)	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,501,740 (GRCm39)	H141L	probably benign	Het
Septin4	G	T	11: 87,480,599 (GRCm39)	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,270,727 (GRCm39)	F550L	probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Stk36	T	A	1: 74,663,093 (GRCm39)	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,471,808 (GRCm39)	A415T	probably benign	Het
Zfp839	C	A	12: 110,827,382 (GRCm39)	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,705,573 (GRCm39)	G95W	probably damaging	Het

Other mutations in Clk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Clk2	APN	3	89,083,818 (GRCm39)	missense	probably damaging	0.99
IGL02342:Clk2	APN	3	89,082,998 (GRCm39)	missense	probably benign	0.00
IGL02387:Clk2	APN	3	89,083,698 (GRCm39)	unclassified	probably benign
IGL02553:Clk2	APN	3	89,083,020 (GRCm39)	missense	probably damaging	1.00
IGL02861:Clk2	APN	3	89,080,706 (GRCm39)	missense	probably damaging	0.99
3-1:Clk2	UTSW	3	89,077,655 (GRCm39)	missense	probably damaging	0.98
R1511:Clk2	UTSW	3	89,076,010 (GRCm39)	missense	probably damaging	1.00
R1892:Clk2	UTSW	3	89,082,502 (GRCm39)	missense	possibly damaging	0.48
R3796:Clk2	UTSW	3	89,082,996 (GRCm39)	missense	probably benign
R3844:Clk2	UTSW	3	89,077,710 (GRCm39)	missense	probably benign	0.06
R4737:Clk2	UTSW	3	89,076,016 (GRCm39)	missense	probably benign	0.44
R5138:Clk2	UTSW	3	89,082,806 (GRCm39)	unclassified	probably benign
R5413:Clk2	UTSW	3	89,080,785 (GRCm39)	missense	probably benign	0.22
R5447:Clk2	UTSW	3	89,074,498 (GRCm39)	missense	possibly damaging	0.92
R5538:Clk2	UTSW	3	89,082,962 (GRCm39)	missense	probably damaging	0.99
R6128:Clk2	UTSW	3	89,081,531 (GRCm39)	missense	probably damaging	1.00
R7346:Clk2	UTSW	3	89,080,852 (GRCm39)	critical splice donor site	probably null
R7578:Clk2	UTSW	3	89,083,807 (GRCm39)	missense	probably benign
R7762:Clk2	UTSW	3	89,074,498 (GRCm39)	missense	probably benign	0.13
R7894:Clk2	UTSW	3	89,076,201 (GRCm39)	missense	possibly damaging	0.95
R8248:Clk2	UTSW	3	89,080,811 (GRCm39)	missense	probably damaging	1.00
R8295:Clk2	UTSW	3	89,080,766 (GRCm39)	missense	probably damaging	1.00
R8819:Clk2	UTSW	3	89,082,730 (GRCm39)	missense	probably damaging	1.00
R8820:Clk2	UTSW	3	89,082,730 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17