Incidental Mutation 'R5544:Cdk2'
ID 436158
Institutional Source Beutler Lab
Gene Symbol Cdk2
Ensembl Gene ENSMUSG00000025358
Gene Name cyclin dependent kinase 2
Synonyms A630093N05Rik
MMRRC Submission 043102-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R5544 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128533808-128540900 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 128535008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 336 (D336E)
Ref Sequence ENSEMBL: ENSMUSP00000026416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000727] [ENSMUST00000026415] [ENSMUST00000026416]
AlphaFold P97377
Predicted Effect probably benign
Transcript: ENSMUST00000000727
SMART Domains Protein: ENSMUSP00000000727
Gene: ENSMUSG00000000711

DomainStartEndE-ValueType
RAB 21 184 1.7e-90 SMART
low complexity region 204 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000026415
AA Change: D288E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026415
Gene: ENSMUSG00000025358
AA Change: D288E

DomainStartEndE-ValueType
S_TKc 4 286 2.89e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026416
AA Change: D336E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026416
Gene: ENSMUSG00000025358
AA Change: D336E

DomainStartEndE-ValueType
S_TKc 4 334 5.37e-97 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220407
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Reproductive system abnormalities are observed in mice homozygous for disruptions in this gene. Gametogenesis fails in both males and females, leading to atrophy of the testes and ovaries. Both sexes are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 G A 9: 30,863,999 (GRCm39) A372T probably damaging Het
Ap4m1 A G 5: 138,176,632 (GRCm39) T411A probably benign Het
Arid3b T A 9: 57,705,380 (GRCm39) K274* probably null Het
Bcan A G 3: 87,900,360 (GRCm39) probably null Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
C9 T A 15: 6,526,508 (GRCm39) V514D probably damaging Het
Corin A T 5: 72,462,357 (GRCm39) Y825* probably null Het
Cyp17a1 A G 19: 46,661,093 (GRCm39) Y64H probably damaging Het
Dock4 T G 12: 40,884,701 (GRCm39) I1735S possibly damaging Het
Dock7 T C 4: 98,855,494 (GRCm39) H1486R probably damaging Het
Fam171b C A 2: 83,685,871 (GRCm39) A185D possibly damaging Het
Fbxl13 A G 5: 21,729,489 (GRCm39) I441T probably damaging Het
Gm7347 T A 5: 26,260,016 (GRCm39) D178V possibly damaging Het
Greb1 C A 12: 16,723,797 (GRCm39) C1884F probably damaging Het
Kdr G A 5: 76,121,403 (GRCm39) R536* probably null Het
Lamc2 T C 1: 152,999,799 (GRCm39) T1187A possibly damaging Het
Mal T A 2: 127,476,937 (GRCm39) H142L probably damaging Het
Map4k2 A C 19: 6,395,944 (GRCm39) probably null Het
Morn4 T C 19: 42,064,686 (GRCm39) T101A possibly damaging Het
Neto2 A G 8: 86,374,506 (GRCm39) V241A possibly damaging Het
Nprl2 T C 9: 107,421,808 (GRCm39) V232A probably benign Het
Pcdhb13 T C 18: 37,576,573 (GRCm39) V317A possibly damaging Het
Pcdhb17 T A 18: 37,620,474 (GRCm39) C755S possibly damaging Het
Pgc A G 17: 48,043,429 (GRCm39) D259G probably benign Het
Ptprh C A 7: 4,583,909 (GRCm39) E228* probably null Het
R3hdml A G 2: 163,340,342 (GRCm39) T170A probably damaging Het
Retreg2 T G 1: 75,121,333 (GRCm39) *174G probably null Het
Rps6ka1 A G 4: 133,599,326 (GRCm39) S34P probably benign Het
Rptn A G 3: 93,305,780 (GRCm39) T1038A possibly damaging Het
Sel1l3 A T 5: 53,357,644 (GRCm39) V116D probably damaging Het
Sidt2 A T 9: 45,855,753 (GRCm39) Y509N probably damaging Het
Slc16a11 T A 11: 70,105,826 (GRCm39) probably null Het
Thsd7a G T 6: 12,379,470 (GRCm39) Q985K possibly damaging Het
Ttn T C 2: 76,556,882 (GRCm39) N30041S probably benign Het
Vmn1r231 A G 17: 21,110,840 (GRCm39) I25T probably damaging Het
Wdr81 T C 11: 75,332,623 (GRCm39) D1926G probably damaging Het
Other mutations in Cdk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Cdk2 APN 10 128,539,595 (GRCm39) missense probably damaging 0.96
R4650:Cdk2 UTSW 10 128,538,364 (GRCm39) missense probably damaging 1.00
R5359:Cdk2 UTSW 10 128,539,857 (GRCm39) unclassified probably benign
R6810:Cdk2 UTSW 10 128,535,456 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAAGCCGGGTTAAGTGCATC -3'
(R):5'- GGTAAGGAGAATACTGGTTCCC -3'

Sequencing Primer
(F):5'- AGCCGGGTTAAGTGCATCTAATG -3'
(R):5'- GGAGAATACTGGTTCCCAAGTTTC -3'
Posted On 2016-10-24