Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Clk2'

597916

Institutional Source

Beutler Lab

Gene Symbol

Clk2

Ensembl Gene

ENSMUSG00000068917

Gene Name

CDC-like kinase 2

Synonyms

MMRRC Submission

045818-MU

Accession Numbers

Essential gene?

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

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89072102-89084228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89074498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 53 (V53I)

Ref Sequence

ENSEMBL: ENSMUSP00000113390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090927] [ENSMUST00000121212] [ENSMUST00000121931] [ENSMUST00000128318] [ENSMUST00000148265] [ENSMUST00000152205]

AlphaFold

O35491

Predicted Effect

probably benign
Transcript: ENSMUST00000090927
AA Change: V53I

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
AA Change: V53I

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: ENSMUST00000121212
AA Change: V53I

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
AA Change: V53I

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 benign
Transcript: ENSMUST00000121931
AA Change: V53I

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
AA Change: V53I

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

possibly damaging
Transcript: ENSMUST00000128318
AA Change: V53I

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115761
Gene: ENSMUSG00000068917
AA Change: V53I

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
AA Change: V53I

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122634
Gene: ENSMUSG00000068917
AA Change: V53I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152205
AA Change: V53I

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122202
Gene: ENSMUSG00000068917
AA Change: V53I

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

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	G	14: 103,288,776 (GRCm39)	D95E	probably damaging	Het
Agpat4	A	G	17: 12,429,209 (GRCm39)	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,742,114 (GRCm39)	S653T	probably benign	Het
Aoc1l2	G	A	6: 48,909,620 (GRCm39)	V622I	probably benign	Het
Aox1	C	T	1: 58,388,263 (GRCm39)	P1124S	probably damaging	Het
Armh3	A	G	19: 45,928,882 (GRCm39)		probably null	Het
Atp4a	T	C	7: 30,419,461 (GRCm39)	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467 (GRCm38)	C718S	probably damaging	Het
Btbd2	T	A	10: 80,479,390 (GRCm39)	I516F	probably damaging	Het
Card6	A	G	15: 5,134,820 (GRCm39)	S128P	probably benign	Het
Cat	T	C	2: 103,287,203 (GRCm39)	K476E	probably benign	Het
Ccr9	A	T	9: 123,609,022 (GRCm39)	T235S	probably benign	Het
Cep55	T	G	19: 38,057,517 (GRCm39)		probably null	Het
Clec2e	A	G	6: 129,072,091 (GRCm39)	F96S	possibly damaging	Het
Clnk	T	C	5: 38,925,484 (GRCm39)	M106V	probably benign	Het
Col6a5	T	C	9: 105,808,523 (GRCm39)	I842V	unknown	Het
Csf1r	A	T	18: 61,243,572 (GRCm39)	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,770,725 (GRCm39)	N116K		Het
Dnaja4	A	G	9: 54,616,494 (GRCm39)	I166V	probably benign	Het
Dqx1	A	G	6: 83,038,013 (GRCm39)	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719 (GRCm39)	T1760A	probably benign	Het
Eea1	T	C	10: 95,864,301 (GRCm39)	V940A	probably benign	Het
Egr1	T	A	18: 34,996,598 (GRCm39)	V460E	probably damaging	Het
Eral1	A	G	11: 77,965,359 (GRCm39)	I352T	possibly damaging	Het
F2	T	C	2: 91,459,041 (GRCm39)	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,399,714 (GRCm39)	V463A	possibly damaging	Het
Fat1	T	A	8: 45,490,374 (GRCm39)	L3762H	probably damaging	Het
Fat1	T	C	8: 45,476,359 (GRCm39)	S1802P	probably damaging	Het
Fibp	A	T	19: 5,514,202 (GRCm39)	N296Y	probably benign	Het
Figla	A	G	6: 85,994,308 (GRCm39)	M28V	probably benign	Het
Foxd3	C	A	4: 99,545,362 (GRCm39)	Y167*	probably null	Het
Gm17019	T	A	5: 15,081,006 (GRCm39)	H145L	probably benign	Het
Gm48552	C	T	10: 81,226,269 (GRCm39)	P18L	probably damaging	Het
H2-Q6	A	G	17: 35,647,077 (GRCm39)	N283S	probably benign	Het
Hrh2	T	A	13: 54,368,058 (GRCm39)	C11*	probably null	Het
Hrnr	G	T	3: 93,239,506 (GRCm39)	G3248V	unknown	Het
Iapp	C	A	6: 142,249,122 (GRCm39)	N58K	possibly damaging	Het
Itga5	T	C	15: 103,258,184 (GRCm39)	N837S	probably benign	Het
Klhl35	C	A	7: 99,117,647 (GRCm39)	H64N	probably benign	Het
Lcor	T	C	19: 41,572,106 (GRCm39)	L287S	probably benign	Het
Lrba	T	A	3: 86,439,508 (GRCm39)	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421 (GRCm39)	I3276T	probably benign	Het
Mlh3	G	T	12: 85,315,058 (GRCm39)	T376K	possibly damaging	Het
Muc21	G	A	17: 35,932,977 (GRCm39)	T403I	unknown	Het
Nbea	A	T	3: 55,557,126 (GRCm39)	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,663,630 (GRCm39)	G763D	probably damaging	Het
Ntf5	C	A	7: 45,065,243 (GRCm39)	A125E	probably damaging	Het
Obsl1	A	T	1: 75,480,167 (GRCm39)	C460S	probably benign	Het
Or1j19	A	T	2: 36,677,022 (GRCm39)	I162F	probably benign	Het
Or1s2	A	T	19: 13,758,650 (GRCm39)	R223W	probably damaging	Het
Or2g7	G	A	17: 38,378,566 (GRCm39)	C168Y	probably damaging	Het
Or2y10	T	A	11: 49,455,588 (GRCm39)	I280N	possibly damaging	Het
Or4b1b	T	A	2: 90,126,975 (GRCm39)	K77*	probably null	Het
Or6c33	A	G	10: 129,853,050 (GRCm39)		probably benign	Het
Or8d1b	G	A	9: 38,887,490 (GRCm39)	V173I	probably benign	Het
Orai3	G	A	7: 127,372,743 (GRCm39)	G130S	unknown	Het
Pcdhb12	T	G	18: 37,568,977 (GRCm39)	V41G	probably damaging	Het
Plec	A	T	15: 76,067,823 (GRCm39)	L1194Q	unknown	Het
Pml	C	A	9: 58,127,456 (GRCm39)	C763F	probably damaging	Het
Prdm15	T	A	16: 97,619,473 (GRCm39)	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,415,906 (GRCm39)	T473N	probably benign	Het
Sbno1	T	A	5: 124,512,729 (GRCm39)	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,610,113 (GRCm39)	D269N	probably damaging	Het
Serpina9	A	T	12: 103,967,575 (GRCm39)	F273L	probably damaging	Het
Sgms2	T	A	3: 131,116,898 (GRCm39)	Y319F	probably benign	Het
Sgo2b	A	T	8: 64,379,531 (GRCm39)	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,236,754 (GRCm39)		probably null	Het
Shh	T	G	5: 28,671,664 (GRCm39)	K33T	probably benign	Het
Slc5a9	A	G	4: 111,747,371 (GRCm39)	Y339H	probably damaging	Het
Spice1	T	A	16: 44,190,864 (GRCm39)		probably null	Het
Tbx2	A	G	11: 85,726,727 (GRCm39)	E257G	probably damaging	Het
Tenm2	G	A	11: 35,914,133 (GRCm39)	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 51,018,575 (GRCm39)	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,631,760 (GRCm39)	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,975,411 (GRCm39)	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,150 (GRCm39)	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,145,048 (GRCm39)	K711N	probably benign	Het
Vcan	G	T	13: 89,841,056 (GRCm39)	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,371,845 (GRCm39)	A125E	probably damaging	Het
Vti1b	A	T	12: 79,211,720 (GRCm39)		probably null	Het
Vwa3b	A	C	1: 37,163,126 (GRCm39)	D583A	probably damaging	Het
Zfp638	T	C	6: 83,953,254 (GRCm39)	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,315,409 (GRCm39)	F1356I	probably benign	Het

Other mutations in Clk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Clk2	APN	3	89,082,729 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGCATTCCACGAGAACG -3'
(R):5'- ACAATGCCTGGTGGGTACAG -3'

Sequencing Primer
(F):5'- CATTCCACGAGAACGGTTATG -3'
(R):5'- GTCTCATTATGTAGACCAGGCTGAC -3'

Posted On

2019-11-26