Incidental Mutation 'IGL03187:Cdkl2'
ID412505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkl2
Ensembl Gene ENSMUSG00000029403
Gene Namecyclin-dependent kinase-like 2 (CDC2-related kinase)
Synonyms5330436L21Rik, KKIAMRE, Kkm
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03187
Quality Score
Status
Chromosome5
Chromosomal Location92006074-92043883 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 92017380 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069937] [ENSMUST00000086978] [ENSMUST00000113140] [ENSMUST00000113143]
Predicted Effect probably null
Transcript: ENSMUST00000069937
SMART Domains Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably null
Transcript: ENSMUST00000086978
SMART Domains Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113140
SMART Domains Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113143
SMART Domains Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136037
Predicted Effect probably benign
Transcript: ENSMUST00000201357
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 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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbx G A 16: 50,274,563 T130I probably damaging Het
Clrn1 A G 3: 58,846,433 V169A probably damaging Het
Erbb3 A G 10: 128,572,594 probably benign Het
Gucy2g A C 19: 55,231,052 I379M possibly damaging Het
Hps5 A T 7: 46,773,207 L533Q probably damaging Het
Kansl1l T A 1: 66,725,903 K749N probably damaging Het
Krt6b G T 15: 101,679,957 F89L probably benign Het
Myh1 T C 11: 67,206,525 F439L possibly damaging Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Nhej1 A G 1: 74,968,261 S111P possibly damaging Het
Olfr728 G T 14: 50,139,800 P280T probably damaging Het
Pcdh15 G A 10: 74,355,874 V601M probably damaging Het
Ripor3 A G 2: 167,985,668 V621A possibly damaging Het
Smarca2 A G 19: 26,672,824 N732S probably damaging Het
Stx18 G A 5: 38,126,983 E170K possibly damaging Het
Syde1 A T 10: 78,589,109 I356N possibly damaging Het
Tex2 C T 11: 106,568,077 probably benign Het
Vmn2r50 T G 7: 10,037,441 T778P probably damaging Het
Zfp709 T G 8: 71,889,282 I184S probably benign Het
Other mutations in Cdkl2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5636:Cdkl2 UTSW 5 92033742 missense probably benign 0.01
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
Posted On2016-08-02