Incidental Mutation 'R2159:Cdk2ap1'
ID 235039
Institutional Source Beutler Lab
Gene Symbol Cdk2ap1
Ensembl Gene ENSMUSG00000029394
Gene Name cyclin dependent kinase 2 associated protein 1
Synonyms Doc1, p12, DORC1, ST19
MMRRC Submission 040162-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2159 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 124483502-124492691 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 124486667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 65 (R65*)
Ref Sequence ENSEMBL: ENSMUSP00000143268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031341] [ENSMUST00000111472] [ENSMUST00000111473] [ENSMUST00000111474] [ENSMUST00000196910]
AlphaFold O35207
Predicted Effect probably null
Transcript: ENSMUST00000031341
AA Change: R92*
SMART Domains Protein: ENSMUSP00000031341
Gene: ENSMUSG00000029394
AA Change: R92*

DomainStartEndE-ValueType
Pfam:CDK2AP 3 113 1.2e-24 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111472
AA Change: R65*
SMART Domains Protein: ENSMUSP00000107097
Gene: ENSMUSG00000029394
AA Change: R65*

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111473
AA Change: R65*
SMART Domains Protein: ENSMUSP00000107098
Gene: ENSMUSG00000029394
AA Change: R65*

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111474
AA Change: R65*
SMART Domains Protein: ENSMUSP00000107099
Gene: ENSMUSG00000029394
AA Change: R65*

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000196910
AA Change: R65*
SMART Domains Protein: ENSMUSP00000143268
Gene: ENSMUSG00000029394
AA Change: R65*

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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 cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mic homozygous for a knock-out allele die between E3.5 and E5.5 with rare survivors exhibiting craniofacial defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,241 (GRCm39) P174S probably benign Het
Aida C T 1: 183,103,234 (GRCm39) P185S probably benign Het
Alg11 T G 8: 22,555,861 (GRCm39) I374R probably benign Het
Ano9 T C 7: 140,688,030 (GRCm39) I229V probably benign Het
Apob A T 12: 8,060,081 (GRCm39) L2821F probably benign Het
Atp10b C T 11: 43,042,680 (GRCm39) T80I possibly damaging Het
BC024139 T C 15: 76,005,688 (GRCm39) H478R probably damaging Het
Btbd1 A T 7: 81,450,804 (GRCm39) D325E possibly damaging Het
Camk2a G A 18: 61,090,257 (GRCm39) C199Y probably damaging Het
Casp3 A G 8: 47,087,323 (GRCm39) D90G probably damaging Het
Ccnt2 A G 1: 127,702,891 (GRCm39) H71R probably benign Het
Cebpb G T 2: 167,531,173 (GRCm39) A78S probably benign Het
Col5a3 A G 9: 20,682,606 (GRCm39) F1613L unknown Het
Cpd T C 11: 76,688,467 (GRCm39) D935G probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cwc27 A G 13: 104,940,837 (GRCm39) I174T probably damaging Het
Cyp21a1 C A 17: 35,021,378 (GRCm39) R331L probably benign Het
Dnah5 A G 15: 28,252,691 (GRCm39) T795A probably benign Het
Eif2ak2 A G 17: 79,181,447 (GRCm39) V100A possibly damaging Het
Foxa3 A G 7: 18,748,109 (GRCm39) V339A probably benign Het
Gp2 T C 7: 119,051,507 (GRCm39) D236G probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gzmd T A 14: 56,368,153 (GRCm39) H102L probably damaging Het
Klk1b1 A T 7: 43,619,857 (GRCm39) I139F probably damaging Het
Lcmt2 G A 2: 120,969,766 (GRCm39) P439L probably damaging Het
Loxl4 C T 19: 42,588,446 (GRCm39) A570T probably damaging Het
Mga T A 2: 119,750,124 (GRCm39) H674Q probably damaging Het
Mybpc3 A T 2: 90,955,715 (GRCm39) K583M probably damaging Het
Ncoa6 G T 2: 155,249,633 (GRCm39) P1224T probably damaging Het
Nostrin A G 2: 69,011,266 (GRCm39) probably null Het
Or13e8 T C 4: 43,697,110 (GRCm39) H21R probably benign Het
Or4c3 A T 2: 89,851,882 (GRCm39) V176E probably damaging Het
Oxsr1 A C 9: 119,133,880 (GRCm39) D58E possibly damaging Het
Parm1 A G 5: 91,760,923 (GRCm39) Y265C probably damaging Het
Phf10 C T 17: 15,172,926 (GRCm39) E304K probably damaging Het
Prmt5 T C 14: 54,752,795 (GRCm39) T139A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptp4a3 A G 15: 73,623,865 (GRCm39) T32A probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rad51ap2 T C 12: 11,507,752 (GRCm39) L558S possibly damaging Het
Rapgef4 A G 2: 72,005,225 (GRCm39) D80G probably damaging Het
Sec24a T G 11: 51,603,177 (GRCm39) H757P probably damaging Het
Sema4d T C 13: 51,874,571 (GRCm39) N129D probably damaging Het
Serpini1 A G 3: 75,531,251 (GRCm39) T323A probably benign Het
Setd1a G A 7: 127,384,661 (GRCm39) R504H possibly damaging Het
Sftpb T C 6: 72,286,770 (GRCm39) C226R probably damaging Het
Sp8 T C 12: 118,812,441 (GRCm39) S99P possibly damaging Het
Srgap3 A G 6: 112,748,339 (GRCm39) F438L probably damaging Het
Stim2 T C 5: 54,267,156 (GRCm39) Y365H probably damaging Het
Stk36 A G 1: 74,673,896 (GRCm39) Q1263R probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Troap G T 15: 98,975,467 (GRCm39) A184S probably damaging Het
Ttn G A 2: 76,729,671 (GRCm39) probably benign Het
Vmn2r108 C A 17: 20,689,363 (GRCm39) A531S probably benign Het
Vmn2r12 T A 5: 109,239,340 (GRCm39) I408F probably benign Het
Vmn2r8 T A 5: 108,950,169 (GRCm39) E226V probably benign Het
Vmo1 A G 11: 70,404,608 (GRCm39) F131S probably benign Het
Vwf T C 6: 125,603,304 (GRCm39) F885L probably damaging Het
Wdpcp A T 11: 21,807,476 (GRCm39) M618L probably benign Het
Wdr90 T C 17: 26,070,715 (GRCm39) E1072G probably benign Het
Other mutations in Cdk2ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01683:Cdk2ap1 APN 5 124,488,242 (GRCm39) splice site probably benign
IGL01979:Cdk2ap1 APN 5 124,486,772 (GRCm39) missense probably damaging 1.00
IGL03240:Cdk2ap1 APN 5 124,484,207 (GRCm39) missense probably damaging 1.00
IGL03047:Cdk2ap1 UTSW 5 124,486,753 (GRCm39) missense possibly damaging 0.54
R7144:Cdk2ap1 UTSW 5 124,492,421 (GRCm39) missense probably damaging 0.99
V1662:Cdk2ap1 UTSW 5 124,486,739 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- GAGTGCTCTTTCCCTGACCAAC -3'
(R):5'- GGATGGAGCCTAAGTCTAGGTC -3'

Sequencing Primer
(F):5'- GACCAACTAGTGCTTCCCCTAGG -3'
(R):5'- ATGGAGCCTAAGTCTAGGTCACTTTC -3'
Posted On 2014-10-01