Incidental Mutation 'R5447:Clk2'
ID 429117
Institutional Source Beutler Lab
Gene Symbol Clk2
Ensembl Gene ENSMUSG00000068917
Gene Name CDC-like kinase 2
Synonyms
MMRRC Submission 043012-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R5447 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89072102-89084228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89074498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 53 (V53F)
Ref Sequence ENSEMBL: ENSMUSP00000122202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090927] [ENSMUST00000121212] [ENSMUST00000121931] [ENSMUST00000128318] [ENSMUST00000148265] [ENSMUST00000152205]
AlphaFold O35491
Predicted Effect possibly damaging
Transcript: ENSMUST00000090927
AA Change: V53F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
AA Change: V53F

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000121212
AA Change: V53F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
AA Change: V53F

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000121931
AA Change: V53F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
AA Change: V53F

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000128318
AA Change: V53F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000115761
Gene: ENSMUSG00000068917
AA Change: V53F

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000133323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138822
Predicted Effect possibly damaging
Transcript: ENSMUST00000148265
AA Change: V53F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122634
Gene: ENSMUSG00000068917
AA Change: V53F

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000152205
AA Change: V53F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122202
Gene: ENSMUSG00000068917
AA Change: V53F

DomainStartEndE-ValueType
low complexity region 24 50 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153255
Meta Mutation Damage Score 0.0690 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (71/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,891,061 (GRCm39) I479V probably damaging Het
Adam30 A G 3: 98,068,659 (GRCm39) D164G probably benign Het
Adgrl3 T A 5: 81,613,188 (GRCm39) probably benign Het
Adrb1 T C 19: 56,711,519 (GRCm39) I239T probably benign Het
Albfm1 C A 5: 90,732,169 (GRCm39) A458E probably damaging Het
B4galnt3 T C 6: 120,192,018 (GRCm39) T572A probably benign Het
Baz2b T C 2: 59,744,332 (GRCm39) E1391G probably damaging Het
BC016579 A G 16: 45,469,252 (GRCm39) V72A probably benign Het
Btnl10 A T 11: 58,813,144 (GRCm39) I258F probably benign Het
Cdh5 A T 8: 104,855,994 (GRCm39) D309V probably damaging Het
Cdhr2 A G 13: 54,881,063 (GRCm39) D1042G probably damaging Het
Cyfip2 T C 11: 46,182,413 (GRCm39) D15G possibly damaging Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Dmbt1 A G 7: 130,721,240 (GRCm39) Y1836C probably damaging Het
Dysf T C 6: 84,172,245 (GRCm39) F1905L probably damaging Het
E130114P18Rik A G 4: 97,578,955 (GRCm39) S7P unknown Het
Fam110a T C 2: 151,812,629 (GRCm39) E47G probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Helb T A 10: 119,938,806 (GRCm39) D556V possibly damaging Het
Hoxd4 A G 2: 74,557,687 (GRCm39) E22G probably damaging Het
Hsd17b8 A T 17: 34,245,886 (GRCm39) V202D probably damaging Het
Il1rl2 T G 1: 40,368,316 (GRCm39) I162R probably damaging Het
Lhfpl5 A G 17: 28,795,071 (GRCm39) T33A probably damaging Het
Mapk8ip3 G A 17: 25,118,163 (GRCm39) A1283V probably benign Het
Mettl13 A G 1: 162,363,449 (GRCm39) V227A probably benign Het
Mmgt2 T A 11: 62,555,824 (GRCm39) C57* probably null Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Mylk2 T C 2: 152,754,430 (GRCm39) S175P probably damaging Het
Neu4 C T 1: 93,950,140 (GRCm39) T33M probably damaging Het
Nfs1 C T 2: 155,984,056 (GRCm39) R107H probably benign Het
Nfxl1 C T 5: 72,686,512 (GRCm39) R563Q probably benign Het
Nid1 A G 13: 13,612,495 (GRCm39) D70G probably benign Het
Nup160 C A 2: 90,555,959 (GRCm39) Q1220K possibly damaging Het
Or1ad8 G A 11: 50,898,170 (GRCm39) V124M possibly damaging Het
Or1e22 A G 11: 73,377,002 (GRCm39) V216A probably benign Het
Or52s6 A C 7: 103,092,147 (GRCm39) M61R probably damaging Het
Or5k8 A T 16: 58,644,846 (GRCm39) C75* probably null Het
Pdgfrb T A 18: 61,201,180 (GRCm39) V422E probably damaging Het
Pear1 G A 3: 87,666,449 (GRCm39) R85C probably damaging Het
Pkhd1 T A 1: 20,309,609 (GRCm39) M2780L probably benign Het
Ppp4r4 T C 12: 103,550,410 (GRCm39) V62A possibly damaging Het
Prol1 C T 5: 88,476,125 (GRCm39) P172S unknown Het
Proz A G 8: 13,122,578 (GRCm39) I231V probably benign Het
Ptch1 T G 13: 63,675,059 (GRCm39) M718L probably benign Het
Ptprs A G 17: 56,736,128 (GRCm39) C102R possibly damaging Het
Robo2 A T 16: 73,770,654 (GRCm39) Y490* probably null Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Skint6 T A 4: 112,963,106 (GRCm39) S442C probably benign Het
Snw1 T C 12: 87,502,485 (GRCm39) E303G probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Stk10 C T 11: 32,554,166 (GRCm39) Q618* probably null Het
Tmc3 A T 7: 83,271,569 (GRCm39) E907V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn T A 2: 76,729,451 (GRCm39) probably benign Het
Vps39 T C 2: 120,183,413 (GRCm39) D19G probably benign Het
Zan T C 5: 137,470,453 (GRCm39) S229G probably damaging Het
Zfp141 A T 7: 42,124,983 (GRCm39) C496* probably null Het
Zgrf1 T C 3: 127,356,768 (GRCm39) S665P possibly damaging Het
Other mutations in Clk2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGAGGCATTCCACGAGAACG -3'
(R):5'- ACAATGCCTGGTGGGTACAG -3'

Sequencing Primer
(F):5'- CATTCCACGAGAACGGTTATG -3'
(R):5'- GTCTCATTATGTAGACCAGGCTGAC -3'
Posted On 2016-09-06