Incidental Mutation 'R8225:Cdk6'
ID 636921
Institutional Source Beutler Lab
Gene Symbol Cdk6
Ensembl Gene ENSMUSG00000040274
Gene Name cyclin dependent kinase 6
Synonyms Crk2
MMRRC Submission 067642-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8225 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 3391485-3581008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 3440790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 115 (P115T)
Ref Sequence ENSEMBL: ENSMUSP00000037925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042410] [ENSMUST00000165117] [ENSMUST00000197385]
AlphaFold Q64261
Predicted Effect probably benign
Transcript: ENSMUST00000042410
AA Change: P115T

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037925
Gene: ENSMUSG00000040274
AA Change: P115T

DomainStartEndE-ValueType
S_TKc 13 300 4.26e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165117
AA Change: P115T

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126024
Gene: ENSMUSG00000040274
AA Change: P115T

DomainStartEndE-ValueType
S_TKc 13 300 4.26e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197385
SMART Domains Protein: ENSMUSP00000143492
Gene: ENSMUSG00000040274

DomainStartEndE-ValueType
Pfam:Pkinase 13 82 2.4e-11 PFAM
Pfam:Pkinase_Tyr 13 82 1.3e-5 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the cyclin dependent kinase family of proteins that play important roles in the progression and regulation of the cell cycle. The encoded protein binds to a D-type cyclin to form an active kinase complex to regulate progression through the G1 phase of the cell cycle. Mice lacking the encoded protein exhibit thymic and splenic hypoplasia, and hematopoietic defects such as reduced number of megakaryocytes and erythrocytes. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display hematopoietic abnormalities affecting spleen and thymus size. Female body weight and fertility are also reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,865,597 (GRCm39) N82S probably benign Het
Ago3 A T 4: 126,247,532 (GRCm39) L595Q probably damaging Het
Bpifc T C 10: 85,836,431 (GRCm39) T25A probably benign Het
Bsn T A 9: 107,984,305 (GRCm39) T478S Het
Cacna1d A G 14: 29,844,990 (GRCm39) V720A probably benign Het
Cd109 G T 9: 78,568,972 (GRCm39) K350N probably damaging Het
Clock T C 5: 76,389,759 (GRCm39) N363S probably damaging Het
Defa42 T C 8: 21,946,418 (GRCm39) D39G possibly damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dock10 T A 1: 80,481,447 (GRCm39) K517* probably null Het
Dynlt1a G T 17: 6,361,628 (GRCm39) Q71K probably damaging Het
Epb41l3 C T 17: 69,581,796 (GRCm39) T591I possibly damaging Het
Exosc10 G A 4: 148,649,661 (GRCm39) V364I possibly damaging Het
Fabp3-ps1 A G 10: 86,568,098 (GRCm39) I52T noncoding transcript Het
Fndc3a T C 14: 72,795,117 (GRCm39) Q766R probably benign Het
Gm10608 CACACACACAGA CA 9: 118,989,776 (GRCm39) probably null Het
Gm10645 C T 8: 83,892,467 (GRCm39) R80H unknown Het
Gpr146 A T 5: 139,378,371 (GRCm39) M58L probably benign Het
Gzf1 T A 2: 148,532,764 (GRCm39) F639L probably benign Het
Kars1 T C 8: 112,729,970 (GRCm39) I136V probably benign Het
Kcnj3 G A 2: 55,327,726 (GRCm39) V172M probably damaging Het
Kcnk10 A G 12: 98,406,849 (GRCm39) probably null Het
Nagpa C A 16: 5,016,724 (GRCm39) D334Y probably damaging Het
Nsun2 T C 13: 69,760,493 (GRCm39) I57T possibly damaging Het
Or5b107 A T 19: 13,142,507 (GRCm39) N43I probably damaging Het
Pax8 A T 2: 24,312,983 (GRCm39) L432Q probably damaging Het
Plxna4 A G 6: 32,139,038 (GRCm39) L1710P probably damaging Het
Prdm16 A G 4: 154,439,702 (GRCm39) probably null Het
Qrich2 A G 11: 116,344,894 (GRCm39) L1721P probably damaging Het
Sbsn TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG 7: 30,451,419 (GRCm39) probably benign Het
Sbsn T C 7: 30,451,869 (GRCm39) F295L probably benign Het
Slc4a7 C T 14: 14,738,224 (GRCm38) R153* probably null Het
Sult6b2 A T 6: 142,750,055 (GRCm39) M21K probably benign Het
Swt1 A C 1: 151,297,859 (GRCm39) S23A possibly damaging Het
Synm A C 7: 67,408,797 (GRCm39) S194A probably benign Het
Sytl2 G A 7: 90,024,725 (GRCm39) A238T probably benign Het
Tax1bp1 G A 6: 52,721,340 (GRCm39) probably null Het
Tfr2 G A 5: 137,569,725 (GRCm39) A74T possibly damaging Het
Tns1 G A 1: 74,025,046 (GRCm39) T389I probably damaging Het
Trpm2 C T 10: 77,783,807 (GRCm39) R222Q probably damaging Het
Trpm4 A G 7: 44,954,758 (GRCm39) C1094R probably benign Het
Ube2q2l A T 6: 136,378,110 (GRCm39) L240Q probably damaging Het
Uty T C Y: 1,158,634 (GRCm39) S471G probably benign Het
Vipr1 A T 9: 121,471,915 (GRCm39) M1L possibly damaging Het
Vps13b A G 15: 35,794,528 (GRCm39) R2313G probably damaging Het
Xrn1 T A 9: 95,917,720 (GRCm39) C1301S probably benign Het
Ythdc1 A T 5: 86,964,796 (GRCm39) S164C possibly damaging Het
Ythdc1 G T 5: 86,964,797 (GRCm39) S164I possibly damaging Het
Zbtb9 T A 17: 27,193,759 (GRCm39) I388N probably damaging Het
Zfp521 T C 18: 13,978,359 (GRCm39) I685V probably benign Het
Other mutations in Cdk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:Cdk6 UTSW 5 3,394,211 (GRCm39) start gained probably benign
R0583:Cdk6 UTSW 5 3,523,183 (GRCm39) missense probably damaging 0.99
R1474:Cdk6 UTSW 5 3,523,217 (GRCm39) missense probably benign 0.23
R1538:Cdk6 UTSW 5 3,570,675 (GRCm39) missense probably benign 0.02
R2104:Cdk6 UTSW 5 3,394,387 (GRCm39) missense probably benign 0.16
R3029:Cdk6 UTSW 5 3,440,817 (GRCm39) critical splice donor site probably null
R4886:Cdk6 UTSW 5 3,394,444 (GRCm39) missense possibly damaging 0.82
R4939:Cdk6 UTSW 5 3,394,377 (GRCm39) missense probably null 0.99
R5421:Cdk6 UTSW 5 3,523,120 (GRCm39) missense probably damaging 1.00
R5583:Cdk6 UTSW 5 3,394,436 (GRCm39) missense probably damaging 1.00
R6247:Cdk6 UTSW 5 3,394,553 (GRCm39) splice site probably null
R7014:Cdk6 UTSW 5 3,523,152 (GRCm39) missense probably damaging 1.00
R7102:Cdk6 UTSW 5 3,570,709 (GRCm39) missense probably damaging 1.00
R7288:Cdk6 UTSW 5 3,479,001 (GRCm39) missense probably benign
R8204:Cdk6 UTSW 5 3,394,461 (GRCm39) missense probably damaging 1.00
R8261:Cdk6 UTSW 5 3,440,685 (GRCm39) missense probably benign 0.02
Z1176:Cdk6 UTSW 5 3,440,694 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- CGCATGCGTTACTACTTGAC -3'
(R):5'- GGACTACAACCCCACTCTTTG -3'

Sequencing Primer
(F):5'- GCATGCGTTACTACTTGACTTATTTC -3'
(R):5'- CTTTGAAGATCCCACTTAACAGAGG -3'
Posted On 2020-07-13