Incidental Mutation 'R6328:Cdk20'
ID 510828
Institutional Source Beutler Lab
Gene Symbol Cdk20
Ensembl Gene ENSMUSG00000021483
Gene Name cyclin dependent kinase 20
Synonyms Ccrk, 4932702G04Rik
MMRRC Submission 044482-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R6328 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 64580133-64587536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64584413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 162 (H162R)
Ref Sequence ENSEMBL: ENSMUSP00000021939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021939] [ENSMUST00000222562] [ENSMUST00000223121] [ENSMUST00000223419]
AlphaFold Q9JHU3
Predicted Effect probably damaging
Transcript: ENSMUST00000021939
AA Change: H162R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021939
Gene: ENSMUSG00000021483
AA Change: H162R

DomainStartEndE-ValueType
S_TKc 4 288 1.87e-87 SMART
low complexity region 306 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221465
Predicted Effect unknown
Transcript: ENSMUST00000222470
AA Change: H44R
Predicted Effect probably damaging
Transcript: ENSMUST00000222562
AA Change: H136R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect unknown
Transcript: ENSMUST00000222576
AA Change: H152R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223011
Predicted Effect probably damaging
Transcript: ENSMUST00000223121
AA Change: H162R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223279
Predicted Effect probably benign
Transcript: ENSMUST00000223419
Meta Mutation Damage Score 0.4790 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a null allele display exencephaly, open neural tubes, cleft palate, absence of the floor plate, achondroplasia of the radius and ulna, and abnormal cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abcb10 G A 8: 124,688,756 (GRCm39) R507W probably damaging Het
Actg1 T C 11: 120,238,586 (GRCm39) D80G possibly damaging Het
Actr5 A G 2: 158,477,264 (GRCm39) D405G possibly damaging Het
Ahnak C T 19: 8,984,512 (GRCm39) T1932I probably benign Het
Ankk1 T A 9: 49,327,371 (GRCm39) T603S possibly damaging Het
Atp13a3 A T 16: 30,155,053 (GRCm39) F964I probably damaging Het
Atp6v1g3 A G 1: 138,215,570 (GRCm39) T77A probably benign Het
Bccip A G 7: 133,319,503 (GRCm39) H198R probably damaging Het
Bsx A T 9: 40,785,519 (GRCm39) R16W probably damaging Het
Ccdc88b C T 19: 6,826,406 (GRCm39) R1103Q probably damaging Het
Cd59a A C 2: 103,941,103 (GRCm39) Y27S probably damaging Het
Col6a2 C T 10: 76,450,212 (GRCm39) E240K possibly damaging Het
Ddr2 A G 1: 169,814,634 (GRCm39) V603A possibly damaging Het
Dgkz A G 2: 91,772,980 (GRCm39) V359A probably benign Het
Dis3l2 T A 1: 86,782,153 (GRCm39) S223T probably benign Het
Dpysl4 A G 7: 138,679,734 (GRCm39) S535G probably benign Het
Dsp A T 13: 38,380,982 (GRCm39) K1977* probably null Het
Dync2h1 A T 9: 7,165,717 (GRCm39) S515T probably benign Het
Epg5 A G 18: 78,072,179 (GRCm39) E2397G possibly damaging Het
Fam83d G A 2: 158,627,096 (GRCm39) G262S probably damaging Het
Frmd4a A T 2: 4,595,509 (GRCm39) T477S probably damaging Het
Gbp3 A G 3: 142,274,819 (GRCm39) E382G probably benign Het
Gltp A T 5: 114,808,572 (GRCm39) C157S possibly damaging Het
Grb10 A G 11: 11,887,905 (GRCm39) S378P probably damaging Het
Gulo G T 14: 66,240,080 (GRCm39) T126K probably damaging Het
H2-M10.6 T A 17: 37,124,836 (GRCm39) M251K probably damaging Het
Hecw1 T C 13: 14,422,205 (GRCm39) D967G possibly damaging Het
Htr3b A T 9: 48,858,933 (GRCm39) D68E probably damaging Het
Igkv5-39 G T 6: 69,877,489 (GRCm39) S89* probably null Het
Kctd4 C A 14: 76,200,037 (GRCm39) probably benign Het
Lmna T C 3: 88,393,813 (GRCm39) Q255R probably damaging Het
Lsmem1 A G 12: 40,230,656 (GRCm39) I82T possibly damaging Het
Lyg2 T A 1: 37,950,194 (GRCm39) M45L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Nudt5 A T 2: 5,869,248 (GRCm39) K158I possibly damaging Het
Nufip1 C T 14: 76,348,494 (GRCm39) P41L possibly damaging Het
Or4f14b A T 2: 111,775,739 (GRCm39) W21R probably null Het
Or52z13 A T 7: 103,247,073 (GRCm39) E183D probably damaging Het
Pcp2 T C 8: 3,674,887 (GRCm39) D22G probably damaging Het
Pdk2 G C 11: 94,930,228 (GRCm39) N69K possibly damaging Het
Pdlim7 G T 13: 55,655,905 (GRCm39) probably benign Het
Ptprc C A 1: 138,041,416 (GRCm39) E148* probably null Het
Rassf5 A T 1: 131,108,405 (GRCm39) V225E probably damaging Het
Rbm6 A T 9: 107,664,458 (GRCm39) M725K probably benign Het
Scn1a T A 2: 66,103,660 (GRCm39) I1867F probably damaging Het
Sdk2 T A 11: 113,684,581 (GRCm39) Q1960L probably damaging Het
Setx A G 2: 29,064,474 (GRCm39) probably benign Het
Sgo2b T A 8: 64,381,345 (GRCm39) R496* probably null Het
Slco1a1 C T 6: 141,878,176 (GRCm39) V222I probably damaging Het
Sntg2 A C 12: 30,308,013 (GRCm39) L224R probably damaging Het
Syt16 C A 12: 74,313,467 (GRCm39) C464* probably null Het
Tapbpl T A 6: 125,201,881 (GRCm39) S420C probably benign Het
Tax1bp1 A G 6: 52,723,694 (GRCm39) E528G probably benign Het
Tmem168 T C 6: 13,602,710 (GRCm39) T219A probably benign Het
Zfp180 T C 7: 23,804,981 (GRCm39) F467L probably damaging Het
Other mutations in Cdk20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Cdk20 APN 13 64,584,124 (GRCm39) unclassified probably benign
IGL02324:Cdk20 APN 13 64,585,734 (GRCm39) missense probably benign 0.03
R1396:Cdk20 UTSW 13 64,585,217 (GRCm39) missense probably damaging 1.00
R4014:Cdk20 UTSW 13 64,585,319 (GRCm39) missense probably benign 0.01
R6579:Cdk20 UTSW 13 64,584,348 (GRCm39) missense probably benign 0.00
R8081:Cdk20 UTSW 13 64,586,766 (GRCm39) missense probably benign 0.01
R8134:Cdk20 UTSW 13 64,585,734 (GRCm39) missense probably benign 0.03
R9134:Cdk20 UTSW 13 64,580,906 (GRCm39) critical splice donor site probably null
X0027:Cdk20 UTSW 13 64,584,038 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTGAAGTAAGCAGCCAGAGG -3'
(R):5'- ATACAGGAGTTCAGGAGCTCGG -3'

Sequencing Primer
(F):5'- CCAGAGGTATGGCTCTAAAGG -3'
(R):5'- AGTTCAGGAGCTCGGTACCAC -3'
Posted On 2018-04-02