Incidental Mutation 'R2104:Cdk6'
ID 230770
Institutional Source Beutler Lab
Gene Symbol Cdk6
Ensembl Gene ENSMUSG00000040274
Gene Name cyclin dependent kinase 6
Synonyms Crk2
MMRRC Submission 040108-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2104 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 3391485-3581008 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 3394387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 7 (S7R)
Ref Sequence ENSEMBL: ENSMUSP00000142796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042410] [ENSMUST00000165117] [ENSMUST00000197385] [ENSMUST00000197607] [ENSMUST00000199156]
AlphaFold Q64261
Predicted Effect probably benign
Transcript: ENSMUST00000042410
AA Change: S7R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037925
Gene: ENSMUSG00000040274
AA Change: S7R

DomainStartEndE-ValueType
S_TKc 13 300 4.26e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165117
AA Change: S7R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126024
Gene: ENSMUSG00000040274
AA Change: S7R

DomainStartEndE-ValueType
S_TKc 13 300 4.26e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197385
AA Change: S7R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000143492
Gene: ENSMUSG00000040274
AA Change: S7R

DomainStartEndE-ValueType
Pfam:Pkinase 13 82 2.4e-11 PFAM
Pfam:Pkinase_Tyr 13 82 1.3e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197607
AA Change: S7R

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000199156
AA Change: S7R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,383,527 (GRCm39) V563I probably benign Het
Amer3 T C 1: 34,627,759 (GRCm39) V666A probably benign Het
Ankrd16 A G 2: 11,784,711 (GRCm39) probably benign Het
Ankub1 G T 3: 57,580,296 (GRCm39) C120* probably null Het
Arhgap31 T C 16: 38,445,941 (GRCm39) I135V probably benign Het
Atp2c2 G A 8: 120,476,584 (GRCm39) G633D probably benign Het
Camta1 T A 4: 151,537,751 (GRCm39) Q143L probably damaging Het
Casp8ap2 T C 4: 32,644,727 (GRCm39) S1267P probably benign Het
Ccn4 A G 15: 66,791,176 (GRCm39) E326G probably benign Het
Cdh1 T A 8: 107,380,391 (GRCm39) probably benign Het
Cdhr4 C A 9: 107,873,460 (GRCm39) D397E probably damaging Het
Cert1 T A 13: 96,771,394 (GRCm39) N550K probably damaging Het
Cilp2 C A 8: 70,335,442 (GRCm39) E519* probably null Het
Clybl A G 14: 122,548,718 (GRCm39) Y40C probably damaging Het
Ctnnal1 T C 4: 56,812,329 (GRCm39) *732W probably null Het
Ctns A T 11: 73,083,907 (GRCm39) S38R probably benign Het
Cwh43 A T 5: 73,578,873 (GRCm39) K293N possibly damaging Het
Dcaf5 G T 12: 80,385,635 (GRCm39) D830E probably benign Het
Dmxl2 A G 9: 54,322,848 (GRCm39) V1512A probably damaging Het
Dnah9 A T 11: 65,951,950 (GRCm39) C1850S probably damaging Het
Dpp8 C T 9: 64,981,849 (GRCm39) probably null Het
Enam A T 5: 88,649,646 (GRCm39) Q385L probably damaging Het
Etv3 A G 3: 87,443,369 (GRCm39) T318A possibly damaging Het
Exd2 T G 12: 80,543,575 (GRCm39) I586S probably benign Het
Fat3 A G 9: 15,909,813 (GRCm39) V2063A possibly damaging Het
Fezf1 A G 6: 23,247,331 (GRCm39) F248S possibly damaging Het
Flnc T C 6: 29,450,734 (GRCm39) probably null Het
Foxc2 A G 8: 121,844,819 (GRCm39) Y489C probably damaging Het
Gfm2 A G 13: 97,308,028 (GRCm39) E540G probably damaging Het
Hrg T C 16: 22,774,949 (GRCm39) I193T probably benign Het
Ifih1 G A 2: 62,440,889 (GRCm39) Q426* probably null Het
Ifit1bl2 T A 19: 34,596,920 (GRCm39) D232V probably benign Het
Igf2bp1 A G 11: 95,866,122 (GRCm39) V122A probably damaging Het
Inpp1 T G 1: 52,838,577 (GRCm39) Q24P probably damaging Het
Kifc2 A G 15: 76,545,454 (GRCm39) D67G probably damaging Het
Lrrc43 G A 5: 123,639,177 (GRCm39) G402D probably benign Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mab21l3 G T 3: 101,730,744 (GRCm39) A165D probably benign Het
Mcub T A 3: 129,712,337 (GRCm39) R179S probably benign Het
Mdfi G C 17: 48,135,562 (GRCm39) A56G possibly damaging Het
Mdn1 A T 4: 32,743,843 (GRCm39) probably null Het
Meox2 A G 12: 37,217,476 (GRCm39) T226A probably damaging Het
Mipol1 A G 12: 57,352,842 (GRCm39) probably null Het
Mms22l T G 4: 24,591,084 (GRCm39) N1018K probably benign Het
Mn1 T C 5: 111,602,617 (GRCm39) I1285T possibly damaging Het
Muc20 T G 16: 32,614,547 (GRCm39) S277R probably damaging Het
Muc6 C A 7: 141,213,991 (GRCm39) V2845L probably benign Het
Mup5 C A 4: 61,751,962 (GRCm39) G96C probably damaging Het
Neb T A 2: 52,146,826 (GRCm39) M2813L probably benign Het
Neb C A 2: 52,161,570 (GRCm39) R2074L probably damaging Het
Oasl2 A T 5: 115,049,063 (GRCm39) K168* probably null Het
Or6c5 T C 10: 129,074,368 (GRCm39) S117P probably damaging Het
P2rx2 C T 5: 110,489,007 (GRCm39) D203N probably damaging Het
Ptprg T C 14: 11,952,897 (GRCm38) probably null Het
Rims4 C T 2: 163,706,785 (GRCm39) probably null Het
Rtn4ip1 T A 10: 43,808,402 (GRCm39) W60R probably benign Het
Sccpdh T C 1: 179,498,162 (GRCm39) S69P probably benign Het
Serpina3b T A 12: 104,105,069 (GRCm39) I415N probably benign Het
Slc22a4 T C 11: 53,874,436 (GRCm39) probably benign Het
Slc4a5 G A 6: 83,274,360 (GRCm39) A1076T probably benign Het
Slit1 T C 19: 41,590,686 (GRCm39) K1329E possibly damaging Het
Synj2bp A C 12: 81,548,826 (GRCm39) F138V probably benign Het
Taar7a T C 10: 23,868,959 (GRCm39) I141V probably damaging Het
Tas1r3 T C 4: 155,946,588 (GRCm39) E339G probably benign Het
Tep1 A G 14: 51,088,037 (GRCm39) probably benign Het
Tgds A T 14: 118,359,149 (GRCm39) Y146* probably null Het
Tgm3 G A 2: 129,879,403 (GRCm39) V332I probably benign Het
Tnnt2 A G 1: 135,771,547 (GRCm39) probably benign Het
Top1 T A 2: 160,546,739 (GRCm39) Y340N probably damaging Het
Topbp1 T C 9: 103,195,181 (GRCm39) probably benign Het
Tpst1 A G 5: 130,131,202 (GRCm39) N224S probably benign Het
Traf4 A G 11: 78,050,840 (GRCm39) F439L probably damaging Het
Trim58 A G 11: 58,533,964 (GRCm39) probably benign Het
Tspan31 T C 10: 126,904,004 (GRCm39) N205S probably damaging Het
Ube3a T A 7: 58,926,225 (GRCm39) N334K possibly damaging Het
Ugt2a3 A T 5: 87,477,541 (GRCm39) probably null Het
Vwf G A 6: 125,623,293 (GRCm39) V1797I probably benign Het
Wdr81 G T 11: 75,343,809 (GRCm39) P486Q probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Yipf7 T A 5: 69,678,462 (GRCm39) N56I possibly damaging Het
Zfp523 A T 17: 28,414,190 (GRCm39) T75S 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
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
R8225:Cdk6 UTSW 5 3,440,790 (GRCm39) missense probably benign 0.23
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'- ACTATGTAATCGCTGCGGAG -3'
(R):5'- ACTCTTAACTTTAGTTGGGCCACC -3'

Sequencing Primer
(F):5'- CTCGGCTAGGCGGAGTTTC -3'
(R):5'- AAGGTCTCCAGGTGCCTCAG -3'
Posted On 2014-09-18