Incidental Mutation 'IGL03251:Cdkl2'
ID 414928
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 # IGL03251
Quality Score
Status
Chromosome 5
Chromosomal Location 92153933-92191742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92181585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 132 (I132T)
Ref Sequence ENSEMBL: ENSMUSP00000108768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069937] [ENSMUST00000086978] [ENSMUST00000113140] [ENSMUST00000113143]
AlphaFold Q9QUK0
Predicted Effect probably damaging
Transcript: ENSMUST00000069937
AA Change: I132T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
AA Change: I132T

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000086978
AA Change: I132T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: I132T

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113140
AA Change: I132T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: I132T

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113143
AA Change: I132T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
AA Change: I132T

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,631,661 (GRCm39) probably benign Het
Ckap4 A T 10: 84,364,469 (GRCm39) I198N probably damaging Het
Col6a3 C T 1: 90,737,898 (GRCm39) R600H probably damaging Het
Dnah7a A G 1: 53,686,433 (GRCm39) I239T probably benign Het
Ei24 A G 9: 36,691,405 (GRCm39) *359R probably null Het
Elk3 A T 10: 93,090,683 (GRCm39) probably null Het
Eps8l2 T A 7: 140,922,875 (GRCm39) M46K probably damaging Het
Frem2 G T 3: 53,479,729 (GRCm39) T1988N probably benign Het
Gm5431 T C 11: 48,785,548 (GRCm39) K276E probably benign Het
Gm8220 T A 14: 44,525,729 (GRCm39) C133S possibly damaging Het
Hectd2 T C 19: 36,562,926 (GRCm39) L168P probably damaging Het
Hydin A T 8: 111,217,228 (GRCm39) D1372V probably damaging Het
Isl1 T C 13: 116,441,985 (GRCm39) S83G probably benign Het
Lrp1b A G 2: 40,490,279 (GRCm39) I107T probably benign Het
Mlc1 A T 15: 88,858,934 (GRCm39) V117D possibly damaging Het
Ndc1 A G 4: 107,237,856 (GRCm39) E220G possibly damaging Het
Nlrp4b T A 7: 10,448,427 (GRCm39) M210K probably benign Het
Or2z8 A T 8: 72,811,920 (GRCm39) Y132F probably damaging Het
Plch1 T C 3: 63,691,423 (GRCm39) E60G possibly damaging Het
Pld1 G A 3: 28,142,814 (GRCm39) R674H probably benign Het
Ppp1r13l G A 7: 19,102,794 (GRCm39) probably benign Het
Ppp2cb A T 8: 34,100,679 (GRCm39) probably benign Het
Rchy1 G T 5: 92,110,502 (GRCm39) A26D probably benign Het
Rrm1 T C 7: 102,106,413 (GRCm39) F311L probably damaging Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Slc24a4 T C 12: 102,189,084 (GRCm39) L173P probably damaging Het
Srgap1 T C 10: 121,640,826 (GRCm39) probably null Het
Tube1 T A 10: 39,010,977 (GRCm39) probably benign Het
Utp20 C T 10: 88,653,188 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,405,120 (GRCm39) probably benign Het
Other mutations in Cdkl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Cdkl2 APN 5 92,165,236 (GRCm39) splice site probably null
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
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 2016-08-02