Incidental Mutation 'R6810:Cdk2'
ID 533768
Institutional Source Beutler Lab
Gene Symbol Cdk2
Ensembl Gene ENSMUSG00000025358
Gene Name cyclin dependent kinase 2
Synonyms A630093N05Rik
MMRRC Submission 044923-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R6810 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128533808-128540900 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128535456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 274 (V274A)
Ref Sequence ENSEMBL: ENSMUSP00000026416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000727] [ENSMUST00000026415] [ENSMUST00000026416] [ENSMUST00000217836]
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: V226A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026415
Gene: ENSMUSG00000025358
AA Change: V226A

DomainStartEndE-ValueType
S_TKc 4 286 2.89e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000026416
AA Change: V274A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000026416
Gene: ENSMUSG00000025358
AA Change: V274A

DomainStartEndE-ValueType
S_TKc 4 334 5.37e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217836
Meta Mutation Damage Score 0.0613 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 96% (53/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A T 8: 95,660,570 (GRCm39) T70S probably damaging Het
Adora1 T C 1: 134,161,777 (GRCm39) Y106C probably damaging Het
Aox3 T A 1: 58,180,590 (GRCm39) N250K probably benign Het
Ap2b1 A T 11: 83,226,317 (GRCm39) Y238F possibly damaging Het
Birc6 G A 17: 74,919,215 (GRCm39) S2015N possibly damaging Het
C7 A G 15: 5,037,136 (GRCm39) F581L probably damaging Het
Cd27 A T 6: 125,210,627 (GRCm39) H203Q probably damaging Het
Cenpe A G 3: 134,949,583 (GRCm39) T1351A probably benign Het
Chd7 T C 4: 8,839,523 (GRCm39) L1353P probably damaging Het
Dcc C T 18: 71,503,764 (GRCm39) V945M probably damaging Het
Dio1 A G 4: 107,154,922 (GRCm39) V118A probably damaging Het
Dst C T 1: 34,251,379 (GRCm39) T1818M probably damaging Het
Dthd1 T A 5: 62,971,672 (GRCm39) M165K probably benign Het
Eif5b A G 1: 38,085,741 (GRCm39) I929V probably benign Het
F5 T A 1: 164,014,471 (GRCm39) S581T probably damaging Het
Fanca A C 8: 124,013,216 (GRCm39) I761S probably damaging Het
Fat2 T C 11: 55,173,067 (GRCm39) T2549A possibly damaging Het
Fut2 A G 7: 45,299,929 (GRCm39) L281P probably damaging Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm5431 T C 11: 48,779,803 (GRCm39) D651G probably damaging Het
Hook3 A C 8: 26,522,450 (GRCm39) probably null Het
Ivd G T 2: 118,700,242 (GRCm39) V90L probably benign Het
Klhdc7b A G 15: 89,272,559 (GRCm39) Y1147C possibly damaging Het
Mlh1 G A 9: 111,070,626 (GRCm39) T363M possibly damaging Het
Ndufa3 A T 7: 3,622,476 (GRCm39) I45F probably damaging Het
Nell2 T C 15: 95,139,468 (GRCm39) D588G probably damaging Het
Nhlrc3 T C 3: 53,360,996 (GRCm39) N253S probably benign Het
Nlrp4c T A 7: 6,069,754 (GRCm39) F552I probably damaging Het
Or51g1 A C 7: 102,634,042 (GRCm39) S110A probably damaging Het
Or5j3 G A 2: 86,128,267 (GRCm39) A36T probably benign Het
Pcdhga12 T C 18: 37,900,232 (GRCm39) S355P probably benign Het
Pcdhga7 A T 18: 37,848,926 (GRCm39) Y311F probably benign Het
Phldb2 A G 16: 45,569,088 (GRCm39) probably null Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Plxna4 A G 6: 32,287,457 (GRCm39) V480A probably benign Het
Psrc1 A T 3: 108,292,664 (GRCm39) K152N possibly damaging Het
Ptcd3 A C 6: 71,862,516 (GRCm39) V473G probably damaging Het
Rab11fip1 ACTCT ACT 8: 27,642,760 (GRCm39) probably null Het
Semp2l2b C T 10: 21,942,616 (GRCm39) G455R probably damaging Het
Skint6 T C 4: 112,805,577 (GRCm39) probably null Het
Slc24a1 A G 9: 64,855,605 (GRCm39) V434A probably benign Het
Snd1 T A 6: 28,668,609 (GRCm39) V432E probably benign Het
Syne2 C T 12: 75,989,659 (GRCm39) T1847M probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tes C A 6: 17,104,651 (GRCm39) N377K probably benign Het
Tfip11 T A 5: 112,481,463 (GRCm39) I452N probably benign Het
Tgfbi T C 13: 56,785,016 (GRCm39) S658P probably benign Het
Tmx4 A C 2: 134,462,594 (GRCm39) D112E probably damaging Het
Tnn G T 1: 159,932,412 (GRCm39) D1367E probably damaging Het
Triobp A G 15: 78,850,815 (GRCm39) N323S possibly damaging Het
Usp40 T C 1: 87,908,755 (GRCm39) D582G probably benign Het
Vmn2r99 A G 17: 19,600,296 (GRCm39) K440R probably benign Het
Zfp707 T A 15: 75,846,748 (GRCm39) L193Q probably damaging Het
Zfp748 T C 13: 67,689,844 (GRCm39) Y472C 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
R5544:Cdk2 UTSW 10 128,535,008 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- AGAAAAGCTCCTCTCTGGGAAG -3'
(R):5'- TGACCGACCCCATGATAAGC -3'

Sequencing Primer
(F):5'- CTCCTCTCTGGGAAGTGGGAG -3'
(R):5'- GACCCCATGATAAGCCCTGG -3'
Posted On 2018-09-12