Incidental Mutation 'IGL00330:Cdkl2'
ID5590
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 #IGL00330
Quality Score
Status
Chromosome5
Chromosomal Location92006074-92043883 bp(-) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) C to T at 92017377 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T G 1: 193,174,779 D146E probably benign Het
Alpi A T 1: 87,099,720 L308Q probably damaging Het
Bhmt2 A T 13: 93,666,771 probably benign Het
Bsn T C 9: 108,115,340 E1071G probably damaging Het
Car3 A T 3: 14,868,379 N128Y probably benign Het
Cul9 T C 17: 46,510,841 probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fam208b A G 13: 3,574,832 F1706S probably benign Het
Gm5771 T C 6: 41,394,773 L51P probably damaging Het
Gpr149 T G 3: 62,530,673 I688L probably damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Kif19a G A 11: 114,779,585 G107D probably damaging Het
Loxhd1 A C 18: 77,395,450 R1242S probably damaging Het
Ms4a6c T C 19: 11,478,312 Y162H probably benign Het
Msrb2 G T 2: 19,371,699 R6L unknown Het
Mum1l1 A G X: 139,235,694 D327G probably damaging Het
Myh2 A G 11: 67,193,440 N1630D probably benign Het
Myrf A G 19: 10,224,513 V200A probably benign Het
Ncor2 A G 5: 125,042,743 probably null Het
Nrg1 T A 8: 31,818,089 Q621L probably damaging Het
Olfr1350 A T 7: 6,570,668 I226F possibly damaging Het
Olfr745 G A 14: 50,643,168 A296T probably benign Het
Pfkp A G 13: 6,619,550 F211S probably damaging Het
Prame T C X: 135,614,509 N273S probably benign Het
Rnh1 G A 7: 141,166,731 A49V possibly damaging Het
Serhl C T 15: 83,104,373 S167F probably benign Het
Skint1 T C 4: 112,021,580 probably null Het
Taar7b A C 10: 24,000,842 I302L probably benign Het
Zfp106 G A 2: 120,539,497 P15S probably benign Het
Zfp385b T C 2: 77,476,778 Q167R probably damaging Het
Zfp800 T A 6: 28,243,038 T643S probably benign Het
Other mutations in Cdkl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-04-20