Incidental Mutation 'IGL03240:Cdk2ap1'
ID414258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk2ap1
Ensembl Gene ENSMUSG00000029394
Gene NameCDK2 (cyclin-dependent kinase 2)-associated protein 1
SynonymsDORC1, p12, Doc1, ST19
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03240
Quality Score
Status
Chromosome5
Chromosomal Location124345417-124363082 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 124346144 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 96 (H96Q)
Ref Sequence ENSEMBL: ENSMUSP00000031341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031341] [ENSMUST00000077376] [ENSMUST00000111472] [ENSMUST00000111473] [ENSMUST00000111474] [ENSMUST00000196910]
Predicted Effect probably damaging
Transcript: ENSMUST00000031341
AA Change: H96Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031341
Gene: ENSMUSG00000029394
AA Change: H96Q

DomainStartEndE-ValueType
Pfam:CDK2AP 3 113 1.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077376
SMART Domains Protein: ENSMUSP00000076594
Gene: ENSMUSG00000047635

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
Pfam:RF-1 51 174 7e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111472
AA Change: H69Q

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107097
Gene: ENSMUSG00000029394
AA Change: H69Q

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111473
AA Change: H69Q

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107098
Gene: ENSMUSG00000029394
AA Change: H69Q

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111474
AA Change: H69Q

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107099
Gene: ENSMUSG00000029394
AA Change: H69Q

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196910
AA Change: H69Q

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143268
Gene: ENSMUSG00000029394
AA Change: H69Q

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,556,716 probably benign Het
AA467197 A G 2: 122,639,262 T57A probably benign Het
Akap11 A T 14: 78,495,905 D1852E probably damaging Het
Arg2 T A 12: 79,131,831 probably null Het
Arhgef4 A G 1: 34,806,026 D1437G probably benign Het
AW551984 C A 9: 39,589,122 R780L probably benign Het
Baz1a T A 12: 54,927,567 K503* probably null Het
Col11a1 T A 3: 114,217,210 probably null Het
Col12a1 A T 9: 79,678,383 probably null Het
Col22a1 G A 15: 71,807,928 P877S unknown Het
Col7a1 A T 9: 108,968,373 N1681Y probably null Het
Dennd1b T G 1: 139,139,392 S398A possibly damaging Het
Fam126b A G 1: 58,529,917 L501P probably damaging Het
Fam129b A C 2: 32,922,097 Y397S probably benign Het
Fgd2 C T 17: 29,361,161 probably benign Het
Hadh T C 3: 131,248,543 S98G probably benign Het
Has2 C T 15: 56,668,260 R353H probably damaging Het
Heg1 T C 16: 33,727,413 S857P probably benign Het
Hemgn T A 4: 46,400,732 R43* probably null Het
Htr4 A T 18: 62,437,621 H249L possibly damaging Het
Iqgap3 T C 3: 88,114,974 S495P probably benign Het
Kars T C 8: 112,005,639 D99G probably benign Het
Krt40 T A 11: 99,537,568 S333C probably damaging Het
Lamc2 T C 1: 153,124,125 I1163V probably damaging Het
Lrrn2 A T 1: 132,938,327 I377F possibly damaging Het
Mcm5 T A 8: 75,115,902 I268N probably damaging Het
Mmp21 G T 7: 133,674,571 H514Q probably damaging Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Mybbp1a A G 11: 72,445,666 T495A possibly damaging Het
Myo10 T A 15: 25,701,602 V21E probably damaging Het
Nap1l4 A G 7: 143,538,245 S49P probably benign Het
Ncoa2 G A 1: 13,177,092 S369F probably damaging Het
Olfr1009 A T 2: 85,722,331 K309* probably null Het
Pon2 A G 6: 5,265,316 probably benign Het
Ppdpf T C 2: 181,187,880 S43P probably benign Het
Psmd6 A G 14: 14,112,393 probably benign Het
Ptprk G T 10: 28,492,961 R643L probably damaging Het
Ptprq T A 10: 107,688,507 Y455F probably benign Het
Sec23b G A 2: 144,566,759 probably benign Het
Sh3pxd2a A G 19: 47,268,026 L751P probably damaging Het
Snx6 T A 12: 54,783,443 H77L probably damaging Het
Svep1 C A 4: 58,048,188 C3472F possibly damaging Het
Trpd52l3 A T 19: 30,003,996 E50D probably damaging Het
Ttc33 A G 15: 5,217,328 D205G probably damaging Het
Tubgcp3 A T 8: 12,649,797 V352E probably benign Het
Tulp2 T G 7: 45,522,310 F436C probably damaging Het
Uhrf1bp1 C A 17: 27,893,253 N1167K probably benign Het
Vmn1r123 T A 7: 21,162,357 M58K possibly damaging Het
Vmn2r113 T C 17: 22,955,957 V514A probably benign Het
Vps13c T C 9: 67,955,047 V2982A probably benign Het
Ywhaq T C 12: 21,395,000 T215A possibly damaging Het
Zfp677 A T 17: 21,396,873 H64L probably damaging Het
Other mutations in Cdk2ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01683:Cdk2ap1 APN 5 124350179 splice site probably benign
IGL01979:Cdk2ap1 APN 5 124348709 missense probably damaging 1.00
IGL03047:Cdk2ap1 UTSW 5 124348690 missense possibly damaging 0.54
R2159:Cdk2ap1 UTSW 5 124348604 nonsense probably null
R7144:Cdk2ap1 UTSW 5 124354358 missense probably damaging 0.99
V1662:Cdk2ap1 UTSW 5 124348676 missense possibly damaging 0.86
Posted On2016-08-02