Incidental Mutation 'R5755:Cdk4'
ID 501376
Institutional Source Beutler Lab
Gene Symbol Cdk4
Ensembl Gene ENSMUSG00000006728
Gene Name cyclin dependent kinase 4
Synonyms Crk3, p34/cdk4
MMRRC Submission 043202-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.914) question?
Stock # R5755 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 126899404-126903157 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 126900591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006911] [ENSMUST00000040307] [ENSMUST00000060991] [ENSMUST00000120226] [ENSMUST00000125682] [ENSMUST00000133115] [ENSMUST00000142558]
AlphaFold P30285
Predicted Effect probably null
Transcript: ENSMUST00000006911
SMART Domains Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728

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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 200 1.2e-19 PFAM
Predicted Effect probably benign
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
SMART Domains Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728

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: ENSMUST00000217875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140254
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: ENSMUST00000218488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135179
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,617,428 (GRCm39) F1042I probably damaging Het
Ahnak A G 19: 8,979,096 (GRCm39) T127A probably benign Het
Aloxe3 A G 11: 69,023,575 (GRCm39) I233V probably benign Het
Ambn T A 5: 88,612,350 (GRCm39) probably null Het
Atp2b1 A G 10: 98,839,032 (GRCm39) E39G probably damaging Het
Atp2b1 T C 10: 98,830,671 (GRCm39) probably null Het
Camsap2 C T 1: 136,210,065 (GRCm39) G476R probably damaging Het
Dcaf12 T C 4: 41,313,356 (GRCm39) Y63C probably damaging Het
Dtna T A 18: 23,754,520 (GRCm39) S445T probably benign Het
Ehmt2 T C 17: 35,127,214 (GRCm39) M109T probably benign Het
Erbb4 T C 1: 68,599,678 (GRCm39) E133G possibly damaging Het
F830016B08Rik T A 18: 60,433,878 (GRCm39) F320L probably damaging Het
Fyco1 A G 9: 123,657,773 (GRCm39) V801A possibly damaging Het
Gm57858 A T 3: 36,071,842 (GRCm39) M501K probably benign Het
Jag1 T A 2: 136,930,610 (GRCm39) N674Y probably damaging Het
Kcnj10 A G 1: 172,197,161 (GRCm39) E225G possibly damaging Het
Klhl11 T A 11: 100,355,177 (GRCm39) M215L probably benign Het
Kmt2d G T 15: 98,761,527 (GRCm39) P608T unknown Het
Map3k19 T C 1: 127,750,118 (GRCm39) M1078V probably benign Het
Neto1 T C 18: 86,517,219 (GRCm39) V512A probably damaging Het
Notch1 T C 2: 26,363,704 (GRCm39) D910G probably benign Het
Or1e19 T A 11: 73,316,557 (GRCm39) N84I probably benign Het
Or2w1 T A 13: 21,317,695 (GRCm39) I250K probably damaging Het
Parvg T C 15: 84,215,297 (GRCm39) probably null Het
Pi4kb A T 3: 94,901,608 (GRCm39) probably null Het
Plag1 T C 4: 3,904,492 (GRCm39) K233R possibly damaging Het
Polr1h T A 17: 37,269,049 (GRCm39) D43V probably benign Het
Rasgrp3 A C 17: 75,831,940 (GRCm39) D587A probably benign Het
Slc7a10 A T 7: 34,898,336 (GRCm39) I336F probably damaging Het
Snx8 T G 5: 140,338,796 (GRCm39) E254A possibly damaging Het
Sp3 A T 2: 72,768,725 (GRCm39) silent Het
Sp8 G T 12: 118,812,822 (GRCm39) A226S probably damaging Het
Spata31d1c C A 13: 65,184,341 (GRCm39) Q628K probably benign Het
Styx C A 14: 45,605,910 (GRCm39) T138K probably benign Het
Syngr3 A G 17: 24,905,509 (GRCm39) F155S probably damaging Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Ubr4 A G 4: 139,187,406 (GRCm39) T3825A possibly damaging Het
Vmn2r113 A T 17: 23,176,955 (GRCm39) T580S probably benign Het
Zbtb11 T A 16: 55,821,076 (GRCm39) S724R probably benign Het
Zcchc4 T C 5: 52,973,511 (GRCm39) S379P 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
R6515:Cdk4 UTSW 10 126,902,052 (GRCm39) missense probably null 0.06
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'- GGACGACTAGCTGGTGATCATTTG -3'
(R):5'- CAAAGTCAGCCAGCTTGACG -3'

Sequencing Primer
(F):5'- ATCATTTGTTCTTCTCAGGCTGATG -3'
(R):5'- TTCAGGTCCCGGTGAACAATG -3'
Posted On 2017-12-01