Incidental Mutation 'IGL00330:Cdkl2'
ID 5590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkl2
Ensembl Gene ENSMUSG00000029403
Gene Name cyclin dependent kinase like 2
Synonyms KKIAMRE, 5330436L21Rik, Kkm
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00330
Quality Score
Status
Chromosome 5
Chromosomal Location 92153933-92191742 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 92165236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069937] [ENSMUST00000086978] [ENSMUST00000113140] [ENSMUST00000113143]
AlphaFold Q9QUK0
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: 192,857,087 (GRCm39) D146E probably benign Het
Alpi A T 1: 87,027,442 (GRCm39) L308Q probably damaging Het
Bhmt2 A T 13: 93,803,279 (GRCm39) probably benign Het
Bsn T C 9: 107,992,539 (GRCm39) E1071G probably damaging Het
Car3 A T 3: 14,933,439 (GRCm39) N128Y probably benign Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cul9 T C 17: 46,821,767 (GRCm39) probably benign Het
Gpr149 T G 3: 62,438,094 (GRCm39) I688L probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Kif19a G A 11: 114,670,411 (GRCm39) G107D probably damaging Het
Loxhd1 A C 18: 77,483,146 (GRCm39) R1242S probably damaging Het
Ms4a6c T C 19: 11,455,676 (GRCm39) Y162H probably benign Het
Msrb2 G T 2: 19,376,510 (GRCm39) R6L unknown Het
Myh2 A G 11: 67,084,266 (GRCm39) N1630D probably benign Het
Myrf A G 19: 10,201,877 (GRCm39) V200A probably benign Het
Ncor2 A G 5: 125,119,807 (GRCm39) probably null Het
Nrg1 T A 8: 32,308,117 (GRCm39) Q621L probably damaging Het
Or11h6 G A 14: 50,880,625 (GRCm39) A296T probably benign Het
Or5bw2 A T 7: 6,573,667 (GRCm39) I226F possibly damaging Het
Pfkp A G 13: 6,669,586 (GRCm39) F211S probably damaging Het
Pramex1 T C X: 134,515,258 (GRCm39) N273S probably benign Het
Prss1l T C 6: 41,371,707 (GRCm39) L51P probably damaging Het
Pwwp3b A G X: 138,136,443 (GRCm39) D327G probably damaging Het
Rnh1 G A 7: 140,746,644 (GRCm39) A49V possibly damaging Het
Serhl C T 15: 82,988,574 (GRCm39) S167F probably benign Het
Skint1 T C 4: 111,878,777 (GRCm39) probably null Het
Taar7b A C 10: 23,876,740 (GRCm39) I302L probably benign Het
Tasor2 A G 13: 3,624,832 (GRCm39) F1706S probably benign Het
Zfp106 G A 2: 120,369,978 (GRCm39) P15S probably benign Het
Zfp385b T C 2: 77,307,122 (GRCm39) Q167R probably damaging Het
Zfp800 T A 6: 28,243,037 (GRCm39) T643S probably benign Het
Other mutations in Cdkl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Cdkl2 APN 5 92,185,130 (GRCm39) missense probably damaging 1.00
IGL02943:Cdkl2 APN 5 92,185,103 (GRCm39) missense possibly damaging 0.81
IGL03187:Cdkl2 APN 5 92,165,239 (GRCm39) critical splice donor site probably null
IGL03251:Cdkl2 APN 5 92,181,585 (GRCm39) missense probably damaging 1.00
R0422:Cdkl2 UTSW 5 92,168,171 (GRCm39) missense probably benign 0.02
R0616:Cdkl2 UTSW 5 92,156,863 (GRCm39) missense probably benign 0.12
R0764:Cdkl2 UTSW 5 92,168,136 (GRCm39) missense probably benign 0.00
R1023:Cdkl2 UTSW 5 92,187,145 (GRCm39) missense possibly damaging 0.58
R2338:Cdkl2 UTSW 5 92,181,538 (GRCm39) missense possibly damaging 0.92
R2497:Cdkl2 UTSW 5 92,156,857 (GRCm39) missense probably benign 0.44
R3926:Cdkl2 UTSW 5 92,180,998 (GRCm39) missense possibly damaging 0.62
R4444:Cdkl2 UTSW 5 92,168,168 (GRCm39) missense probably benign 0.10
R4445:Cdkl2 UTSW 5 92,168,168 (GRCm39) missense probably benign 0.10
R4446:Cdkl2 UTSW 5 92,168,168 (GRCm39) missense probably benign 0.10
R4647:Cdkl2 UTSW 5 92,165,072 (GRCm39) missense probably damaging 0.99
R4664:Cdkl2 UTSW 5 92,185,124 (GRCm39) missense probably damaging 0.99
R5478:Cdkl2 UTSW 5 92,187,108 (GRCm39) nonsense probably null
R5636:Cdkl2 UTSW 5 92,181,601 (GRCm39) missense probably benign 0.01
R6446:Cdkl2 UTSW 5 92,181,076 (GRCm39) missense probably damaging 1.00
R7051:Cdkl2 UTSW 5 92,181,084 (GRCm39) missense probably damaging 0.99
R7096:Cdkl2 UTSW 5 92,181,043 (GRCm39) nonsense probably null
R7388:Cdkl2 UTSW 5 92,167,318 (GRCm39) missense probably benign 0.01
R8871:Cdkl2 UTSW 5 92,164,989 (GRCm39) missense possibly damaging 0.67
R8993:Cdkl2 UTSW 5 92,170,010 (GRCm39) missense probably damaging 0.99
R9323:Cdkl2 UTSW 5 92,168,107 (GRCm39) missense probably benign 0.23
R9768:Cdkl2 UTSW 5 92,165,244 (GRCm39) missense probably benign 0.01
Posted On 2012-04-20