Incidental Mutation 'R7748:Cdk4'
ID 597023
Institutional Source Beutler Lab
Gene Symbol Cdk4
Ensembl Gene ENSMUSG00000006728
Gene Name cyclin-dependent kinase 4
Synonyms Crk3, p34/cdk4
MMRRC Submission 045804-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R7748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127063534-127067920 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127064429 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 65 (A65V)
Ref Sequence ENSEMBL: ENSMUSP00000006911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006911] [ENSMUST00000040307] [ENSMUST00000060991] [ENSMUST00000120226] [ENSMUST00000125682] [ENSMUST00000133115] [ENSMUST00000142558]
AlphaFold P30285
Predicted Effect possibly damaging
Transcript: ENSMUST00000006911
AA Change: A65V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728
AA Change: A65V

S_TKc 6 295 9.2e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040307
SMART Domains Protein: ENSMUSP00000041581
Gene: ENSMUSG00000040502

low complexity region 20 45 N/A INTRINSIC
low complexity region 50 60 N/A INTRINSIC
low complexity region 76 105 N/A INTRINSIC
RINGv 109 156 7.51e-18 SMART
transmembrane domain 183 205 N/A INTRINSIC
Blast:AAA 211 238 2e-9 BLAST
low complexity region 267 284 N/A INTRINSIC
low complexity region 291 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060991
SMART Domains Protein: ENSMUSP00000057751
Gene: ENSMUSG00000006736

Pfam:Tetraspannin 8 200 1.2e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120226
AA Change: A65V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112549
Gene: ENSMUSG00000006728
AA Change: A65V

Pfam:Pkinase 6 103 6e-10 PFAM
low complexity region 121 138 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000125682
AA Change: A65V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728
AA Change: A65V

S_TKc 6 261 5.19e-72 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133115
AA Change: A65V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122973
Gene: ENSMUSG00000006728
AA Change: A65V

S_TKc 6 250 1.55e-70 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000142558
AA Change: A65V

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728
AA Change: A65V

Pfam:Pkinase 6 74 1.6e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 131,361,792 (GRCm38) L103F probably benign Het
4932438A13Rik A G 3: 36,959,335 (GRCm38) probably null Het
5330417H12Rik A G 7: 107,624,558 (GRCm38) L103P unknown Het
Actb T C 5: 142,904,695 (GRCm38) I151V probably benign Het
Adcy6 T A 15: 98,604,556 (GRCm38) H59L probably benign Het
Adss G C 1: 177,772,202 (GRCm38) S272* probably null Het
Aga A T 8: 53,511,805 (GRCm38) M1L possibly damaging Het
Anxa5 G A 3: 36,465,331 (GRCm38) T3M probably damaging Het
Arhgap45 A T 10: 80,016,932 (GRCm38) probably benign Het
Atp6v0a2 A T 5: 124,716,496 (GRCm38) H639L probably benign Het
BC005537 C T 13: 24,803,399 (GRCm38) R7W possibly damaging Het
Bcl2l2 C T 14: 54,884,379 (GRCm38) probably benign Het
Bod1l A C 5: 41,832,340 (GRCm38) S347A probably damaging Het
Calcoco1 T C 15: 102,719,561 (GRCm38) D46G probably damaging Het
Camk1 T C 6: 113,340,328 (GRCm38) E60G probably damaging Het
Capza1 A T 3: 104,825,405 (GRCm38) probably null Het
Ccdc18 T A 5: 108,149,041 (GRCm38) probably null Het
Cdh20 G A 1: 104,941,299 (GRCm38) A172T probably damaging Het
Cftr T C 6: 18,277,889 (GRCm38) probably null Het
Chd3 T C 11: 69,355,633 (GRCm38) M1092V probably benign Het
Chd6 A T 2: 160,966,619 (GRCm38) H1558Q probably benign Het
Chil1 A G 1: 134,189,228 (GRCm38) H318R probably benign Het
Cps1 A G 1: 67,139,806 (GRCm38) Y59C probably damaging Het
Cyb5r4 T C 9: 87,032,381 (GRCm38) V111A probably damaging Het
D430042O09Rik A T 7: 125,829,801 (GRCm38) M558L probably benign Het
Ddx39b G A 17: 35,252,750 (GRCm38) V291M probably damaging Het
Dhx57 A G 17: 80,265,117 (GRCm38) F709S probably damaging Het
Eef1b2 A T 1: 63,177,865 (GRCm38) K64N probably damaging Het
Fam135a A G 1: 24,028,969 (GRCm38) S940P probably benign Het
Fam234b T A 6: 135,209,351 (GRCm38) V119E probably damaging Het
Fbxo46 G C 7: 19,136,533 (GRCm38) C359S probably damaging Het
Fkbp14 C A 6: 54,595,520 (GRCm38) probably benign Het
Fmn2 T A 1: 174,666,649 (GRCm38) V1243E probably damaging Het
Fsbp C A 4: 11,579,924 (GRCm38) T64K probably damaging Het
Fscb A T 12: 64,474,407 (GRCm38) M95K probably benign Het
Fyb T G 15: 6,638,826 (GRCm38) V500G probably damaging Het
G2e3 A G 12: 51,371,667 (GRCm38) N615S probably benign Het
Gart T C 16: 91,630,652 (GRCm38) D486G possibly damaging Het
Gas2l2 T A 11: 83,422,398 (GRCm38) D696V probably benign Het
Glmn C T 5: 107,562,244 (GRCm38) probably null Het
Gm47985 A T 1: 151,182,974 (GRCm38) D122V probably damaging Het
Gm49333 A T 16: 20,633,084 (GRCm38) D407V probably damaging Het
Gm7168 A G 17: 13,948,652 (GRCm38) K94E probably benign Het
Gm996 T A 2: 25,578,959 (GRCm38) E313D possibly damaging Het
Gnai2 T C 9: 107,615,735 (GRCm38) H323R Het
Helz2 C T 2: 181,234,531 (GRCm38) R1390H probably damaging Het
Igf2bp1 T C 11: 95,967,587 (GRCm38) M453V probably benign Het
Ighv3-1 C T 12: 113,964,650 (GRCm38) V30M probably damaging Het
Inpp5a A T 7: 139,574,995 (GRCm38) R343S probably damaging Het
Itga8 T A 2: 12,230,239 (GRCm38) I403F possibly damaging Het
Krt33a C T 11: 100,011,602 (GRCm38) R404H probably benign Het
Krt34 T A 11: 100,038,938 (GRCm38) E244V probably damaging Het
Krt42 T C 11: 100,266,966 (GRCm38) E224G probably damaging Het
Lama1 T C 17: 67,750,590 (GRCm38) L553P Het
Lcn9 T A 2: 25,824,914 (GRCm38) *179K probably null Het
Lrrc2 T G 9: 110,980,931 (GRCm38) M345R possibly damaging Het
March11 T C 15: 26,387,830 (GRCm38) V257A probably damaging Het
Masp2 T C 4: 148,605,706 (GRCm38) I224T probably benign Het
Mpz A T 1: 171,159,940 (GRCm38) probably null Het
Mtr C T 13: 12,227,839 (GRCm38) A442T probably benign Het
Muc5b A G 7: 141,847,805 (GRCm38) K596R unknown Het
Myo15 T G 11: 60,504,901 (GRCm38) F1397C Het
Ncor2 T C 5: 125,109,967 (GRCm38) I173V unknown Het
Ngly1 T A 14: 16,290,820 (GRCm38) I434K possibly damaging Het
Notch2 A G 3: 98,138,484 (GRCm38) H1655R possibly damaging Het
Notum C T 11: 120,654,801 (GRCm38) A390T probably damaging Het
Olfr381 T G 11: 73,486,168 (GRCm38) I219L probably benign Het
Olfr519 T C 7: 108,894,078 (GRCm38) T115A probably benign Het
Pds5a T A 5: 65,619,666 (GRCm38) I51F possibly damaging Het
Pdzd2 C A 15: 12,385,786 (GRCm38) R966L possibly damaging Het
Plk3 T C 4: 117,131,728 (GRCm38) Y278C probably damaging Het
Plxna1 T A 6: 89,337,353 (GRCm38) probably null Het
Plxna1 C G 6: 89,337,352 (GRCm38) probably null Het
Ppp4r4 G A 12: 103,605,061 (GRCm38) probably null Het
Pramel6 T A 2: 87,508,699 (GRCm38) V81E probably damaging Het
Prdm2 T C 4: 143,135,889 (GRCm38) E277G possibly damaging Het
Prkg1 T A 19: 30,993,091 (GRCm38) I222F possibly damaging Het
Proser3 A T 7: 30,540,072 (GRCm38) S536T possibly damaging Het
Prrt4 C A 6: 29,177,191 (GRCm38) G193V probably damaging Het
Ptpn21 A T 12: 98,688,772 (GRCm38) H645Q probably benign Het
Ptprd T C 4: 76,099,504 (GRCm38) I744V probably null Het
Rad54l2 A G 9: 106,719,034 (GRCm38) V235A possibly damaging Het
Repin1 G T 6: 48,597,345 (GRCm38) E403* probably null Het
Rgs22 C T 15: 36,122,269 (GRCm38) probably null Het
Rtcb A T 10: 85,941,968 (GRCm38) D447E probably benign Het
Rtn1 C T 12: 72,216,926 (GRCm38) V744I possibly damaging Het
Scfd1 T G 12: 51,389,357 (GRCm38) I96M probably benign Het
Serpina3b T C 12: 104,130,463 (GRCm38) M1T probably null Het
Slc1a4 T C 11: 20,332,252 (GRCm38) Y74C probably damaging Het
Slc9b2 A T 3: 135,326,179 (GRCm38) I267F possibly damaging Het
Sorcs2 A T 5: 36,229,175 (GRCm38) M173K possibly damaging Het
Sparc T C 11: 55,398,600 (GRCm38) I226V probably benign Het
Spata22 T G 11: 73,336,254 (GRCm38) I98S probably null Het
Spef2 C T 15: 9,652,945 (GRCm38) V917M probably damaging Het
Sspo C A 6: 48,449,465 (GRCm38) C139* probably null Het
Tenm4 A G 7: 96,894,702 (GRCm38) D2012G probably damaging Het
Tgm5 G A 2: 121,052,808 (GRCm38) R351C probably damaging Het
Tmem145 G A 7: 25,307,328 (GRCm38) W82* probably null Het
Tmem159 A T 7: 120,115,479 (GRCm38) I64F possibly damaging Het
Topors T A 4: 40,262,654 (GRCm38) D210V probably damaging Het
Tssk4 A T 14: 55,651,112 (GRCm38) H146L probably damaging Het
Unc93b1 T A 19: 3,935,250 (GRCm38) D19E unknown Het
Usp17lc A G 7: 103,418,481 (GRCm38) T328A probably damaging Het
Utrn A G 10: 12,614,508 (GRCm38) Y43H probably benign Het
Vmn1r25 T A 6: 57,978,564 (GRCm38) I247F probably damaging Het
Vmn2r78 A T 7: 86,921,135 (GRCm38) Q287L probably benign Het
Vps13c T A 9: 67,963,089 (GRCm38) I3170N probably benign Het
Zfc3h1 T A 10: 115,400,815 (GRCm38) M398K probably benign Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,815,240 (GRCm38) probably benign Het
Zfp773 T C 7: 7,132,908 (GRCm38) R230G probably benign Het
Other mutations in Cdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Cdk4 APN 10 127,064,297 (GRCm38) missense probably damaging 1.00
IGL01326:Cdk4 APN 10 127,064,623 (GRCm38) missense possibly damaging 0.95
R0140:Cdk4 UTSW 10 127,064,345 (GRCm38) missense probably damaging 1.00
R0799:Cdk4 UTSW 10 127,064,994 (GRCm38) missense probably damaging 0.98
R1437:Cdk4 UTSW 10 127,064,689 (GRCm38) missense probably damaging 1.00
R1575:Cdk4 UTSW 10 127,064,651 (GRCm38) missense probably damaging 1.00
R1656:Cdk4 UTSW 10 127,064,980 (GRCm38) missense probably benign 0.00
R1761:Cdk4 UTSW 10 127,064,677 (GRCm38) unclassified probably benign
R2567:Cdk4 UTSW 10 127,064,276 (GRCm38) missense probably benign 0.01
R4679:Cdk4 UTSW 10 127,064,911 (GRCm38) missense possibly damaging 0.93
R4790:Cdk4 UTSW 10 127,064,701 (GRCm38) missense probably damaging 1.00
R4897:Cdk4 UTSW 10 127,064,575 (GRCm38) intron probably benign
R4946:Cdk4 UTSW 10 127,064,890 (GRCm38) splice site probably null
R5755:Cdk4 UTSW 10 127,064,722 (GRCm38) critical splice donor site probably null
R6515:Cdk4 UTSW 10 127,066,183 (GRCm38) missense probably null 0.06
R6868:Cdk4 UTSW 10 127,065,001 (GRCm38) missense probably benign 0.43
R7488:Cdk4 UTSW 10 127,064,237 (GRCm38) start codon destroyed probably null 0.26
R8956:Cdk4 UTSW 10 127,064,677 (GRCm38) unclassified probably benign
R9082:Cdk4 UTSW 10 127,064,863 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-26