Incidental Mutation 'R6515:Cdk4'
ID 520619
Institutional Source Beutler Lab
Gene Symbol Cdk4
Ensembl Gene ENSMUSG00000006728
Gene Name cyclin dependent kinase 4
Synonyms Crk3, p34/cdk4
MMRRC Submission 044642-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R6515 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 126899404-126903157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126902052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 256 (P256S)
Ref Sequence ENSEMBL: ENSMUSP00000117234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006911] [ENSMUST00000060991] [ENSMUST00000120226] [ENSMUST00000125682] [ENSMUST00000133115] [ENSMUST00000142558]
AlphaFold P30285
Predicted Effect probably null
Transcript: ENSMUST00000006911
AA Change: P256S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728
AA Change: P256S

DomainStartEndE-ValueType
S_TKc 6 295 9.2e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060991
SMART Domains Protein: ENSMUSP00000057751
Gene: ENSMUSG00000006736

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 200 1.2e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120226
SMART Domains Protein: ENSMUSP00000112549
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
Pfam:Pkinase 6 103 6e-10 PFAM
low complexity region 121 138 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123456
Predicted Effect probably null
Transcript: ENSMUST00000125682
AA Change: P256S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728
AA Change: P256S

DomainStartEndE-ValueType
S_TKc 6 261 5.19e-72 SMART
Predicted Effect probably null
Transcript: ENSMUST00000133115
SMART Domains Protein: ENSMUSP00000122973
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
S_TKc 6 250 1.55e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217956
Predicted Effect probably benign
Transcript: ENSMUST00000142558
SMART Domains Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
Pfam:Pkinase 6 74 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218603
Meta Mutation Damage Score 0.1024 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have small size, insulin-deficient diabetes, sterility in females; near-sterility in males and impaired prolactin secretion due to hypoplastic pituitary development. Locomotor and endocrine gland defects are seen with some alleles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,592,044 (GRCm39) D102G probably damaging Het
Apcdd1 T A 18: 63,084,910 (GRCm39) M369K probably damaging Het
Atp4a A G 7: 30,411,903 (GRCm39) K46R possibly damaging Het
Bcl9l A G 9: 44,419,171 (GRCm39) probably null Het
Cabyr A G 18: 12,887,340 (GRCm39) S324G possibly damaging Het
Casp8ap2 A G 4: 32,646,423 (GRCm39) D1832G possibly damaging Het
Cnot6l C A 5: 96,309,537 (GRCm39) probably benign Het
Cox17 C A 16: 38,167,557 (GRCm39) A32E probably damaging Het
Cyp27b1 G T 10: 126,884,119 (GRCm39) probably benign Het
Enpp2 T A 15: 54,723,489 (GRCm39) N628I possibly damaging Het
Ggcx T C 6: 72,402,815 (GRCm39) C258R probably benign Het
Hbb-bh1 T C 7: 103,491,974 (GRCm39) D80G probably damaging Het
Hoxb5 A T 11: 96,195,908 (GRCm39) D252V probably damaging Het
Hspa4l A G 3: 40,736,014 (GRCm39) D545G possibly damaging Het
Hspa5 T A 2: 34,662,416 (GRCm39) V28E probably benign Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kif19b T C 5: 140,480,779 (GRCm39) S970P possibly damaging Het
Klra17 A T 6: 129,808,462 (GRCm39) I257N probably damaging Het
Megf6 C T 4: 154,343,376 (GRCm39) H662Y possibly damaging Het
Mfsd6 T C 1: 52,700,120 (GRCm39) K676R probably damaging Het
Nutm1 A C 2: 112,086,665 (GRCm39) L22R probably benign Het
Oas1f T C 5: 120,986,497 (GRCm39) V150A probably damaging Het
Or10ak13 T C 4: 118,639,467 (GRCm39) Y105C probably benign Het
Or4f62 T C 2: 111,986,710 (GRCm39) L138P probably benign Het
Pik3ap1 A G 19: 41,364,585 (GRCm39) Y45H probably benign Het
Pnlip T C 19: 58,661,547 (GRCm39) S79P probably damaging Het
Ppfia3 T C 7: 44,989,657 (GRCm39) D1185G possibly damaging Het
Pphln1-ps1 G A 16: 13,494,820 (GRCm39) probably benign Het
Rbm34 A T 8: 127,688,682 (GRCm39) S217T possibly damaging Het
Rbm44 T C 1: 91,092,860 (GRCm39) I820T probably damaging Het
Rnf151 A T 17: 24,935,391 (GRCm39) L180Q probably benign Het
Sec24d G A 3: 123,136,719 (GRCm39) R484Q possibly damaging Het
Spop C A 11: 95,376,761 (GRCm39) D271E possibly damaging Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Thap12 A G 7: 98,356,302 (GRCm39) E63G probably damaging Het
Thsd7a T A 6: 12,501,085 (GRCm39) T441S possibly damaging Het
Tle6 G A 10: 81,427,810 (GRCm39) H482Y probably damaging Het
Tmem184a A G 5: 139,794,193 (GRCm39) F177L probably benign Het
Uggt2 A T 14: 119,315,131 (GRCm39) S313T possibly damaging Het
Unc13a A G 8: 72,100,584 (GRCm39) I1068T probably benign Het
Xirp1 T C 9: 119,845,983 (GRCm39) R967G probably benign Het
Other mutations in Cdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Cdk4 APN 10 126,900,166 (GRCm39) missense probably damaging 1.00
IGL01326:Cdk4 APN 10 126,900,492 (GRCm39) missense possibly damaging 0.95
R0140:Cdk4 UTSW 10 126,900,214 (GRCm39) missense probably damaging 1.00
R0799:Cdk4 UTSW 10 126,900,863 (GRCm39) missense probably damaging 0.98
R1437:Cdk4 UTSW 10 126,900,558 (GRCm39) missense probably damaging 1.00
R1575:Cdk4 UTSW 10 126,900,520 (GRCm39) missense probably damaging 1.00
R1656:Cdk4 UTSW 10 126,900,849 (GRCm39) missense probably benign 0.00
R1761:Cdk4 UTSW 10 126,900,546 (GRCm39) unclassified probably benign
R2567:Cdk4 UTSW 10 126,900,145 (GRCm39) missense probably benign 0.01
R4679:Cdk4 UTSW 10 126,900,780 (GRCm39) missense possibly damaging 0.93
R4790:Cdk4 UTSW 10 126,900,570 (GRCm39) missense probably damaging 1.00
R4897:Cdk4 UTSW 10 126,900,444 (GRCm39) intron probably benign
R4946:Cdk4 UTSW 10 126,900,759 (GRCm39) splice site probably null
R5755:Cdk4 UTSW 10 126,900,591 (GRCm39) critical splice donor site probably null
R6868:Cdk4 UTSW 10 126,900,870 (GRCm39) missense probably benign 0.43
R7488:Cdk4 UTSW 10 126,900,106 (GRCm39) start codon destroyed probably null 0.26
R7748:Cdk4 UTSW 10 126,900,298 (GRCm39) missense possibly damaging 0.78
R8956:Cdk4 UTSW 10 126,900,546 (GRCm39) unclassified probably benign
R9082:Cdk4 UTSW 10 126,900,732 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGTTGGGGAAAATCTTTGAG -3'
(R):5'- TCATTGGAGACTCTGTCAGCG -3'

Sequencing Primer
(F):5'- CCTAACAGAGTTGTCCTGTC -3'
(R):5'- ACATGGTGGCTTACAACCATCTG -3'
Posted On 2018-06-06