Incidental Mutation 'R1023:Cdkl2'
ID 94615
Institutional Source Beutler Lab
Gene Symbol Cdkl2
Ensembl Gene ENSMUSG00000029403
Gene Name cyclin dependent kinase like 2
Synonyms KKIAMRE, 5330436L21Rik, Kkm
MMRRC Submission 039125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1023 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 92153933-92191742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92187145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 40 (D40E)
Ref Sequence ENSEMBL: ENSMUSP00000108768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069937] [ENSMUST00000086978] [ENSMUST00000113140] [ENSMUST00000113143]
AlphaFold Q9QUK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000069937
AA Change: D40E

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063617
Gene: ENSMUSG00000029403
AA Change: D40E

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000086978
AA Change: D40E

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084199
Gene: ENSMUSG00000029403
AA Change: D40E

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113140
AA Change: D40E

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108765
Gene: ENSMUSG00000029403
AA Change: D40E

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113143
AA Change: D40E

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108768
Gene: ENSMUSG00000029403
AA Change: D40E

DomainStartEndE-ValueType
S_TKc 4 289 2.79e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201895
Meta Mutation Damage Score 0.0739 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,772,632 (GRCm39) A607V probably damaging Het
4930523C07Rik A G 1: 159,905,057 (GRCm39) probably benign Het
Ap3d1 A T 10: 80,550,092 (GRCm39) L713Q probably damaging Het
Baz2a A G 10: 127,957,676 (GRCm39) T1010A possibly damaging Het
Cdh15 T C 8: 123,591,939 (GRCm39) I608T probably damaging Het
Col9a2 G A 4: 120,901,207 (GRCm39) G118R unknown Het
Cryge C A 1: 65,089,945 (GRCm39) C79F probably damaging Het
Dapk1 T C 13: 60,878,799 (GRCm39) L596P probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Dync2i1 T C 12: 116,196,277 (GRCm39) E490G probably damaging Het
Enam A G 5: 88,649,826 (GRCm39) Q445R probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnpat A T 8: 125,597,519 (GRCm39) D27V probably benign Het
Htr5a A T 5: 28,047,996 (GRCm39) T184S possibly damaging Het
Lap3 C T 5: 45,652,553 (GRCm39) P50S probably benign Het
Mamdc2 A T 19: 23,288,271 (GRCm39) M589K probably damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mef2b C T 8: 70,618,247 (GRCm39) P109L possibly damaging Het
Meltf T A 16: 31,703,778 (GRCm39) F168L probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nup205 T A 6: 35,211,641 (GRCm39) F1661I probably damaging Het
Or11h4b A T 14: 50,918,473 (GRCm39) L206H probably damaging Het
Or5h19 A T 16: 58,856,178 (GRCm39) N307K probably benign Het
Plac8 A T 5: 100,704,447 (GRCm39) D83E probably benign Het
Pnpt1 T C 11: 29,091,328 (GRCm39) probably benign Het
Pold2 G T 11: 5,825,140 (GRCm39) Q86K probably benign Het
Ptprt A G 2: 161,400,863 (GRCm39) L1057P probably damaging Het
Rev3l A G 10: 39,708,635 (GRCm39) H2284R probably damaging Het
Scart1 T A 7: 139,804,376 (GRCm39) C484S possibly damaging Het
Skint6 A C 4: 113,095,300 (GRCm39) S120A probably benign Het
Slc1a7 G A 4: 107,864,770 (GRCm39) V270M probably damaging Het
Spata2 A G 2: 167,327,142 (GRCm39) M85T probably benign Het
Taf1b G T 12: 24,559,558 (GRCm39) probably benign Het
Tert A G 13: 73,790,178 (GRCm39) N844S probably benign Het
Thrap3 G A 4: 126,073,882 (GRCm39) S288L possibly damaging Het
Ubap2l A G 3: 89,955,180 (GRCm39) probably benign Het
Ubtf T C 11: 102,202,276 (GRCm39) E197G possibly damaging Het
Usp20 G T 2: 30,897,825 (GRCm39) G216W probably damaging Het
Yy1 T A 12: 108,759,457 (GRCm39) V40E unknown Het
Zfp335 G A 2: 164,734,505 (GRCm39) H1254Y possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- catctctccagccccTGGATTTTC -3'
(R):5'- CCATGCTTTGGTTTCCACAGCAAG -3'

Sequencing Primer
(F):5'- acacatatactacacacattcacac -3'
(R):5'- TGGTTTCCACAGCAAGAAAAATTCC -3'
Posted On 2014-01-05