Incidental Mutation 'V1662:Cdk2ap1'
ID 63481
Institutional Source Beutler Lab
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 # V1662 () of strain 633
Quality Score 106
Status Not validated
Chromosome 5
Chromosomal Location 124483502-124492691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124486739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 68 (I68F)
Ref Sequence ENSEMBL: ENSMUSP00000031341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031341] [ENSMUST00000111472] [ENSMUST00000111473] [ENSMUST00000111474] [ENSMUST00000196910]
AlphaFold O35207
Predicted Effect possibly damaging
Transcript: ENSMUST00000031341
AA Change: I68F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031341
Gene: ENSMUSG00000029394
AA Change: I68F

DomainStartEndE-ValueType
Pfam:CDK2AP 3 113 1.2e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111472
AA Change: I41F

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107097
Gene: ENSMUSG00000029394
AA Change: I41F

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111473
AA Change: I41F

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107098
Gene: ENSMUSG00000029394
AA Change: I41F

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111474
AA Change: I41F

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107099
Gene: ENSMUSG00000029394
AA Change: I41F

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196910
AA Change: I41F

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143268
Gene: ENSMUSG00000029394
AA Change: I41F

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.6%
  • 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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G C 5: 114,376,769 (GRCm39) G1951R probably damaging Het
Adamts12 T A 15: 11,071,894 (GRCm39) L146Q probably benign Het
Adgra1 T C 7: 139,432,495 (GRCm39) I111T probably damaging Het
Amph G A 13: 19,323,540 (GRCm39) V601M probably benign Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arhgef2 G A 3: 88,540,636 (GRCm39) R154Q probably damaging Het
Bank1 T A 3: 135,760,179 (GRCm39) D782V probably damaging Het
Bhlha9 G T 11: 76,563,862 (GRCm39) R163L probably benign Het
Cacna1h T C 17: 25,596,283 (GRCm39) N1913D possibly damaging Het
Cd7 T C 11: 120,927,952 (GRCm39) I184V probably benign Het
Cfap44 C A 16: 44,269,501 (GRCm39) Y1168* probably null Het
D6Ertd527e T C 6: 87,088,874 (GRCm39) S346P unknown Het
Daam2 A G 17: 49,771,629 (GRCm39) L839P possibly damaging Het
Gask1a A G 9: 121,794,091 (GRCm39) R82G probably damaging Het
Golgb1 A G 16: 36,718,904 (GRCm39) H270R probably benign Het
H2-T9 A G 17: 36,439,823 (GRCm39) Y104H probably benign Het
Itgav C T 2: 83,614,198 (GRCm39) R519W possibly damaging Het
Lrp1b A T 2: 41,012,944 (GRCm39) I2001K probably damaging Het
Lrrc40 T A 3: 157,758,426 (GRCm39) I277K probably damaging Het
Or2y8 T C 11: 52,036,004 (GRCm39) M118V probably damaging Het
Or5bw2 A T 7: 6,573,818 (GRCm39) Y276F probably damaging Het
Or5m13 C A 2: 85,748,938 (GRCm39) T223K probably benign Het
Or6b13 C T 7: 139,781,871 (GRCm39) D271N possibly damaging Het
Pyroxd1 G A 6: 142,304,169 (GRCm39) G307S probably damaging Het
Rp1 T A 1: 4,419,783 (GRCm39) Y443F probably damaging Het
Rpusd4 C A 9: 35,184,057 (GRCm39) S237R probably benign Het
Sdk2 A C 11: 113,725,734 (GRCm39) W1172G probably damaging Het
Utrn A G 10: 12,297,384 (GRCm39) Y675H probably damaging Het
Vmn1r193 A G 13: 22,403,245 (GRCm39) I249T possibly damaging 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
R2159:Cdk2ap1 UTSW 5 124,486,667 (GRCm39) nonsense probably null
R7144:Cdk2ap1 UTSW 5 124,492,421 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCTCAGAAACCCATGAGCCGC -3'
(R):5'- AGGGCTATGCTTCAGCTAGGACAG -3'

Sequencing Primer
(F):5'- gcatcctcctacctcagcc -3'
(R):5'- TAGGACAGCCCCGGATG -3'
Posted On 2013-07-30