Incidental Mutation 'IGL02450:Cdk5r1'
ID 294124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk5r1
Ensembl Gene ENSMUSG00000048895
Gene Name cyclin dependent kinase 5, regulatory subunit 1
Synonyms p25, p35, D11Bwg0379e
Accession Numbers
Essential gene? Possibly essential (E-score: 0.710) question?
Stock # IGL02450
Quality Score
Status
Chromosome 11
Chromosomal Location 80367849-80372010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80368666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 111 (A111V)
Ref Sequence ENSEMBL: ENSMUSP00000120964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017572] [ENSMUST00000041065] [ENSMUST00000053413] [ENSMUST00000147694]
AlphaFold P61809
Predicted Effect probably benign
Transcript: ENSMUST00000017572
SMART Domains Protein: ENSMUSP00000017572
Gene: ENSMUSG00000017428

DomainStartEndE-ValueType
PAM 143 320 1.6e-67 SMART
PINT 321 404 4.34e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041065
SMART Domains Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441

DomainStartEndE-ValueType
MYSc 3 696 N/A SMART
IQ 697 719 1.46e-3 SMART
Pfam:Myosin_TH1 803 1006 4.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053413
AA Change: A111V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099514
Gene: ENSMUSG00000048895
AA Change: A111V

DomainStartEndE-ValueType
Pfam:CDK5_activator 69 294 1.6e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147694
AA Change: A111V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120964
Gene: ENSMUSG00000048895
AA Change: A111V

DomainStartEndE-ValueType
Pfam:CDK5_activator 1 138 2.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173797
SMART Domains Protein: ENSMUSP00000133739
Gene: ENSMUSG00000017428

DomainStartEndE-ValueType
Blast:PAM 2 58 9e-33 BLAST
PINT 59 142 4.34e-23 SMART
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 (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of the gene results in structural abnormalities of the brain such as a small corpus callosum and delaminated cerebral cortex. Mice show hyperactivity and decreased locomotion in response to stimulants. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,798,963 (GRCm39) *781W probably null Het
Adamts16 C A 13: 70,984,419 (GRCm39) R81S probably damaging Het
Aldh1l1 A G 6: 90,546,855 (GRCm39) D386G probably benign Het
Anxa6 G A 11: 54,885,767 (GRCm39) R393W probably damaging Het
Bdnf G A 2: 109,553,949 (GRCm39) V108I possibly damaging Het
Bpgm C T 6: 34,464,399 (GRCm39) R39W probably damaging Het
Cd101 T C 3: 100,901,054 (GRCm39) E1006G probably damaging Het
Cd109 A T 9: 78,603,132 (GRCm39) E972V possibly damaging Het
Cdhr3 T A 12: 33,132,224 (GRCm39) Q133L probably benign Het
Cnga4 A T 7: 105,054,955 (GRCm39) I77F probably damaging Het
Egfem1 G A 3: 29,711,417 (GRCm39) probably null Het
Fbxl21 T A 13: 56,674,766 (GRCm39) V39D possibly damaging Het
Gimap6 T C 6: 48,681,351 (GRCm39) I94M probably benign Het
Glis1 T C 4: 107,484,726 (GRCm39) V407A probably benign Het
Gm5784 C T 12: 19,437,970 (GRCm39) noncoding transcript Het
Gm9839 A T 1: 32,559,964 (GRCm39) probably benign Het
Heatr5a T A 12: 51,992,213 (GRCm39) M566L probably benign Het
Jph1 G A 1: 17,074,201 (GRCm39) P606S possibly damaging Het
Jup C T 11: 100,269,183 (GRCm39) C410Y probably damaging Het
Kif23 A G 9: 61,831,239 (GRCm39) M777T probably benign Het
Lifr G T 15: 7,220,246 (GRCm39) D959Y probably damaging Het
Lsm1 C A 8: 26,283,806 (GRCm39) L73I possibly damaging Het
Maneal G A 4: 124,750,928 (GRCm39) A276V probably benign Het
Myh4 A G 11: 67,142,635 (GRCm39) D932G probably damaging Het
Nipbl C T 15: 8,373,058 (GRCm39) V1063M probably damaging Het
Nlrx1 A G 9: 44,164,798 (GRCm39) V882A probably benign Het
Obox6 A G 7: 15,567,638 (GRCm39) C270R probably damaging Het
Or13a19 A G 7: 139,903,140 (GRCm39) H176R possibly damaging Het
Pard3b A G 1: 62,571,835 (GRCm39) I925V possibly damaging Het
Pdhx A G 2: 102,872,594 (GRCm39) S163P probably benign Het
Pdzrn3 T C 6: 101,331,461 (GRCm39) D271G probably damaging Het
Plec A G 15: 76,075,515 (GRCm39) I399T probably damaging Het
Pthlh T G 6: 147,158,666 (GRCm39) D98A possibly damaging Het
Spata31f3 A G 4: 42,874,127 (GRCm39) S14P probably benign Het
Spock3 T A 8: 63,698,249 (GRCm39) probably null Het
Tgtp2 C T 11: 48,950,317 (GRCm39) G85D probably benign Het
Tmem94 A G 11: 115,683,897 (GRCm39) D739G probably damaging Het
Washc5 G A 15: 59,204,166 (GRCm39) R706* probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zscan20 G T 4: 128,480,450 (GRCm39) D680E probably damaging Het
Other mutations in Cdk5r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02754:Cdk5r1 APN 11 80,368,569 (GRCm39) missense probably benign 0.00
R0230:Cdk5r1 UTSW 11 80,368,576 (GRCm39) missense probably damaging 1.00
R4166:Cdk5r1 UTSW 11 80,369,035 (GRCm39) missense probably damaging 1.00
R5537:Cdk5r1 UTSW 11 80,368,825 (GRCm39) missense probably damaging 1.00
R5926:Cdk5r1 UTSW 11 80,369,128 (GRCm39) splice site probably null
R6350:Cdk5r1 UTSW 11 80,369,068 (GRCm39) missense probably damaging 1.00
R6841:Cdk5r1 UTSW 11 80,369,021 (GRCm39) nonsense probably null
R7542:Cdk5r1 UTSW 11 80,369,190 (GRCm39) missense probably damaging 1.00
R9612:Cdk5r1 UTSW 11 80,368,480 (GRCm39) missense probably benign 0.00
R9768:Cdk5r1 UTSW 11 80,368,414 (GRCm39) missense probably damaging 1.00
T0722:Cdk5r1 UTSW 11 80,368,707 (GRCm39) missense probably benign 0.38
Posted On 2015-04-16