Incidental Mutation 'IGL01979:Cdk2ap1'
ID 181795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk2ap1
Ensembl Gene ENSMUSG00000029394
Gene Name cyclin dependent kinase 2 associated protein 1
Synonyms Doc1, p12, DORC1, ST19
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01979
Quality Score
Status
Chromosome 5
Chromosomal Location 124483502-124492691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124486772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 57 (V57M)
Ref Sequence ENSEMBL: ENSMUSP00000031341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031341] [ENSMUST00000111472] [ENSMUST00000111473] [ENSMUST00000111474] [ENSMUST00000196910]
AlphaFold O35207
Predicted Effect probably damaging
Transcript: ENSMUST00000031341
AA Change: V57M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031341
Gene: ENSMUSG00000029394
AA Change: V57M

DomainStartEndE-ValueType
Pfam:CDK2AP 3 113 1.2e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111472
AA Change: V30M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107097
Gene: ENSMUSG00000029394
AA Change: V30M

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111473
AA Change: V30M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107098
Gene: ENSMUSG00000029394
AA Change: V30M

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111474
AA Change: V30M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107099
Gene: ENSMUSG00000029394
AA Change: V30M

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196910
AA Change: V30M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143268
Gene: ENSMUSG00000029394
AA Change: V30M

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,584,971 (GRCm39) L394* probably null Het
Csnk2b T A 17: 35,336,992 (GRCm39) N65I possibly damaging Het
Dennd4a G A 9: 64,801,691 (GRCm39) E945K probably benign Het
Eif2b2 A G 12: 85,266,608 (GRCm39) D59G probably benign Het
Ero1a A T 14: 45,525,201 (GRCm39) N441K probably damaging Het
Fam91a1 A G 15: 58,304,433 (GRCm39) D383G probably damaging Het
Fbxl7 C A 15: 26,789,649 (GRCm39) S26I probably damaging Het
Il20 A T 1: 130,838,839 (GRCm39) I42K probably damaging Het
Nav3 A G 10: 109,540,790 (GRCm39) F1947L probably benign Het
Ncapd3 T A 9: 26,983,261 (GRCm39) probably null Het
Numb G T 12: 83,889,051 (GRCm39) H23N probably damaging Het
Or10q3 G A 19: 11,848,587 (GRCm39) probably benign Het
Or5p79 A G 7: 108,221,648 (GRCm39) I210V probably benign Het
Ppp1r1b C T 11: 98,247,666 (GRCm39) T111I probably damaging Het
Rad50 G A 11: 53,577,005 (GRCm39) Q528* probably null Het
Scara3 A T 14: 66,168,412 (GRCm39) S402T probably benign Het
Septin3 A G 15: 82,168,593 (GRCm39) Y132C probably damaging Het
Sim2 C A 16: 93,924,341 (GRCm39) N495K possibly damaging Het
Slc9b1 A G 3: 135,077,743 (GRCm39) probably null Het
Tanc2 A G 11: 105,667,746 (GRCm39) D109G probably benign Het
Tex55 A C 16: 38,648,255 (GRCm39) S285A possibly damaging Het
Traf1 T C 2: 34,833,905 (GRCm39) I404V probably benign Het
Vmn2r68 C A 7: 84,871,325 (GRCm39) V653L probably benign Het
Wdr93 A T 7: 79,426,400 (GRCm39) Q555L probably benign Het
Other mutations in Cdk2ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01683:Cdk2ap1 APN 5 124,488,242 (GRCm39) splice site probably benign
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
R2159:Cdk2ap1 UTSW 5 124,486,667 (GRCm39) nonsense probably null
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
Posted On 2014-05-07