Incidental Mutation 'R5359:Cdk2'
ID 424249
Institutional Source Beutler Lab
Gene Symbol Cdk2
Ensembl Gene ENSMUSG00000025358
Gene Name cyclin dependent kinase 2
Synonyms A630093N05Rik
MMRRC Submission 042938-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R5359 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128533808-128540900 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 128539857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026415] [ENSMUST00000026415] [ENSMUST00000026416] [ENSMUST00000026416] [ENSMUST00000054125] [ENSMUST00000217836] [ENSMUST00000219157]
AlphaFold P97377
Predicted Effect silent
Transcript: ENSMUST00000026415
SMART Domains Protein: ENSMUSP00000026415
Gene: ENSMUSG00000025358

DomainStartEndE-ValueType
S_TKc 4 286 2.89e-111 SMART
Predicted Effect silent
Transcript: ENSMUST00000026415
SMART Domains Protein: ENSMUSP00000026415
Gene: ENSMUSG00000025358

DomainStartEndE-ValueType
S_TKc 4 286 2.89e-111 SMART
Predicted Effect silent
Transcript: ENSMUST00000026416
SMART Domains Protein: ENSMUSP00000026416
Gene: ENSMUSG00000025358

DomainStartEndE-ValueType
S_TKc 4 334 5.37e-97 SMART
Predicted Effect silent
Transcript: ENSMUST00000026416
SMART Domains Protein: ENSMUSP00000026416
Gene: ENSMUSG00000025358

DomainStartEndE-ValueType
S_TKc 4 334 5.37e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054125
SMART Domains Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 132 144 N/A INTRINSIC
PKD 228 310 3.17e-7 SMART
low complexity region 326 348 N/A INTRINSIC
low complexity region 377 396 N/A INTRINSIC
transmembrane domain 559 581 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219099
Predicted Effect probably benign
Transcript: ENSMUST00000219157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220407
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5b1 T A 19: 5,619,126 (GRCm39) I182N possibly damaging Het
Arap2 A T 5: 62,840,762 (GRCm39) C701* probably null Het
Bcr T A 10: 75,001,917 (GRCm39) F940L probably damaging Het
Cav2 A T 6: 17,287,064 (GRCm39) probably benign Het
Clic4 G A 4: 134,944,446 (GRCm39) A243V probably benign Het
Dap3 A T 3: 88,838,296 (GRCm39) V99D probably damaging Het
Dennd5a T C 7: 109,497,169 (GRCm39) E1110G probably damaging Het
Dhx30 T C 9: 109,922,203 (GRCm39) N160D probably damaging Het
Dnai7 T G 6: 145,142,618 (GRCm39) T120P probably damaging Het
Dock9 A G 14: 121,890,472 (GRCm39) M268T possibly damaging Het
Dspp T A 5: 104,323,752 (GRCm39) D298E probably damaging Het
Elane A G 10: 79,722,870 (GRCm39) E92G probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gbf1 T C 19: 46,272,164 (GRCm39) probably null Het
Gm1968 A T 16: 29,777,617 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,265,004 (GRCm39) V2729E probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Iqgap1 T C 7: 80,416,707 (GRCm39) T106A probably benign Het
Kcnj6 G C 16: 94,633,312 (GRCm39) Y248* probably null Het
Mllt3 A G 4: 87,759,164 (GRCm39) S295P probably benign Het
Or2w1b A C 13: 21,300,437 (GRCm39) T192P probably damaging Het
Pex11b G A 3: 96,551,229 (GRCm39) C224Y probably damaging Het
Pik3c2g A G 6: 139,599,121 (GRCm39) Y79C probably damaging Het
Plcz1 T C 6: 139,974,178 (GRCm39) Y88C probably damaging Het
Pole A G 5: 110,480,354 (GRCm39) N99S probably benign Het
Pyroxd1 T G 6: 142,307,717 (GRCm39) Y496D probably damaging Het
Rasef A G 4: 73,689,565 (GRCm39) L68P probably damaging Het
Rgs13 T A 1: 144,015,322 (GRCm39) M132L probably damaging Het
RP24-187P11.4 T G 9: 109,349,944 (GRCm39) noncoding transcript Het
Rsph4a A G 10: 33,784,232 (GRCm39) T285A probably benign Het
Ryr3 A T 2: 112,606,186 (GRCm39) probably null Het
Slc30a1 T A 1: 191,641,865 (GRCm39) *504R probably null Het
Spcs1 T C 14: 30,722,074 (GRCm39) R156G probably damaging Het
Supv3l1 A G 10: 62,268,178 (GRCm39) F556L probably damaging Het
Thumpd2 C T 17: 81,334,206 (GRCm39) V461M probably benign Het
Timm50 A G 7: 28,007,592 (GRCm39) L158P probably damaging Het
Tnrc6c T C 11: 117,649,731 (GRCm39) silent Het
Ttn G A 2: 76,726,147 (GRCm39) Q1807* probably null Het
Zdhhc14 A G 17: 5,543,821 (GRCm39) I34V probably benign Het
Zgrf1 T A 3: 127,394,814 (GRCm39) M506K possibly 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
R5544:Cdk2 UTSW 10 128,535,008 (GRCm39) missense probably benign 0.11
R6810:Cdk2 UTSW 10 128,535,456 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAGGTCCTGGTGCAGAAATTC -3'
(R):5'- CATTCACCTGGAGGCTCTTC -3'

Sequencing Primer
(F):5'- GTCCTGGTGCAGAAATTCAAAAAC -3'
(R):5'- CTTACCTTTCACTGGAAAAAGAGG -3'
Posted On 2016-08-04