Incidental Mutation 'IGL02852:Cdk5r2'
ID 361952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk5r2
Ensembl Gene ENSMUSG00000090071
Gene Name cyclin dependent kinase 5, regulatory subunit 2
Synonyms B230310J22Rik, p39
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02852
Quality Score
Status
Chromosome 1
Chromosomal Location 74894188-74896891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74895298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 348 (S348P)
Ref Sequence ENSEMBL: ENSMUSP00000125322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160379]
AlphaFold O35926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159627
Predicted Effect probably benign
Transcript: ENSMUST00000160379
AA Change: S348P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125322
Gene: ENSMUSG00000090071
AA Change: S348P

DomainStartEndE-ValueType
low complexity region 37 50 N/A INTRINSIC
low complexity region 70 88 N/A INTRINSIC
low complexity region 122 134 N/A INTRINSIC
Pfam:CDK5_activator 164 330 2e-91 PFAM
low complexity region 331 352 N/A INTRINSIC
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 neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 112,441,979 (GRCm39) L287* probably null Het
Birc2 A G 9: 7,854,484 (GRCm39) I402T probably damaging Het
Btrc T A 19: 45,501,095 (GRCm39) L153* probably null Het
C2cd3 T C 7: 100,079,396 (GRCm39) F1245L probably damaging Het
Cabp7 C T 11: 4,688,912 (GRCm39) R186H probably damaging Het
Cfhr4 T C 1: 139,701,754 (GRCm39) Y120C probably damaging Het
Clca3a2 T C 3: 144,512,104 (GRCm39) D544G probably damaging Het
Col6a6 A C 9: 105,661,272 (GRCm39) I279S probably damaging Het
Csmd1 T A 8: 15,945,728 (GRCm39) T3562S probably damaging Het
Dgkd T C 1: 87,863,135 (GRCm39) S61P probably damaging Het
Dph5 T A 3: 115,722,320 (GRCm39) M266K possibly damaging Het
Gm14226 G A 2: 154,866,841 (GRCm39) S266N possibly damaging Het
Gm28047 A G 15: 102,446,653 (GRCm39) V400A possibly damaging Het
Gucy1a2 A G 9: 3,759,691 (GRCm39) D499G probably benign Het
Hoxb7 C T 11: 96,180,320 (GRCm39) T173M possibly damaging Het
Kcnn3 T A 3: 89,516,923 (GRCm39) I444N probably damaging Het
Kif1b A G 4: 149,375,785 (GRCm39) I27T probably damaging Het
Krtap8-1 A G 16: 89,284,753 (GRCm39) Y15H probably benign Het
Myo18b C T 5: 112,863,377 (GRCm39) V2154I probably benign Het
Pcdhb3 A G 18: 37,435,150 (GRCm39) D372G probably damaging Het
Pfkp G T 13: 6,655,059 (GRCm39) P340Q possibly damaging Het
Plcd3 C T 11: 102,964,631 (GRCm39) R580Q probably damaging Het
Pou5f2 G A 13: 78,173,178 (GRCm39) R40Q probably benign Het
Ppara G T 15: 85,682,079 (GRCm39) M258I probably benign Het
Proc A G 18: 32,258,208 (GRCm39) S246P probably damaging Het
Ptpn21 T C 12: 98,681,454 (GRCm39) probably null Het
Ripor2 T C 13: 24,879,681 (GRCm39) F383S probably damaging Het
Rnf39 T C 17: 37,256,094 (GRCm39) probably benign Het
Sema6c C A 3: 95,077,295 (GRCm39) probably benign Het
Slc16a5 A G 11: 115,360,405 (GRCm39) E196G probably benign Het
Slco1c1 T A 6: 141,493,550 (GRCm39) L313* probably null Het
Slit2 T C 5: 48,402,014 (GRCm39) F789S probably damaging Het
Spta1 A G 1: 174,071,676 (GRCm39) M2219V probably benign Het
Sqle A T 15: 59,197,920 (GRCm39) H380L probably damaging Het
Tek T C 4: 94,743,561 (GRCm39) Y859H probably damaging Het
Trcg1 A T 9: 57,148,595 (GRCm39) T56S possibly damaging Het
Ttc23 T A 7: 67,316,903 (GRCm39) probably benign Het
Ttn A G 2: 76,774,648 (GRCm39) probably benign Het
Uba1y C T Y: 828,841 (GRCm39) R550* probably null Het
Ubqln4 T C 3: 88,462,778 (GRCm39) V81A probably damaging Het
Ugt2b38 C T 5: 87,559,600 (GRCm39) E431K probably benign Het
Vmn1r85 T G 7: 12,819,010 (GRCm39) I45L possibly damaging Het
Vmn2r68 T G 7: 84,882,595 (GRCm39) S386R probably damaging Het
Washc4 A G 10: 83,419,173 (GRCm39) T902A possibly damaging Het
Zc3h15 G A 2: 83,475,015 (GRCm39) A7T possibly damaging Het
Zdhhc19 A C 16: 32,316,460 (GRCm39) T72P probably damaging Het
Zfp729a A T 13: 67,768,070 (GRCm39) S720T possibly damaging Het
Zfp729b T C 13: 67,740,942 (GRCm39) K441R probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Cdk5r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0639:Cdk5r2 UTSW 1 74,894,995 (GRCm39) missense probably damaging 0.99
R1872:Cdk5r2 UTSW 1 74,894,981 (GRCm39) missense probably damaging 1.00
R2258:Cdk5r2 UTSW 1 74,895,059 (GRCm39) missense probably damaging 1.00
R4973:Cdk5r2 UTSW 1 74,894,831 (GRCm39) missense probably damaging 0.98
R5950:Cdk5r2 UTSW 1 74,894,561 (GRCm39) missense probably damaging 1.00
R6962:Cdk5r2 UTSW 1 74,894,975 (GRCm39) missense probably damaging 1.00
R9482:Cdk5r2 UTSW 1 74,894,504 (GRCm39) missense probably damaging 0.96
Z1176:Cdk5r2 UTSW 1 74,894,509 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18