Incidental Mutation 'IGL02754:Cdk5r1'
ID 306337
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: 0.677) question?
Stock # IGL02754
Quality Score
Status
Chromosome 11
Chromosomal Location 80367849-80372010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80368569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 79 (A79S)
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: A79S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099514
Gene: ENSMUSG00000048895
AA Change: A79S

DomainStartEndE-ValueType
Pfam:CDK5_activator 69 294 1.6e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147694
AA Change: A79S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120964
Gene: ENSMUSG00000048895
AA Change: A79S

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T A 9: 39,507,922 (GRCm39) R405* probably null Het
AW551984 C T 9: 39,504,624 (GRCm39) probably null Het
Bdp1 T C 13: 100,197,481 (GRCm39) E968G possibly damaging Het
Ccdc68 T C 18: 70,076,935 (GRCm39) probably null Het
Ccdc87 T A 19: 4,889,889 (GRCm39) L127H probably damaging Het
Cdyl A T 13: 35,867,725 (GRCm39) probably benign Het
Cfdp1 A G 8: 112,580,766 (GRCm39) probably benign Het
Chi3l1 A T 1: 134,111,339 (GRCm39) I62F probably damaging Het
Cnot1 A T 8: 96,481,706 (GRCm39) I789K probably benign Het
Cobl T C 11: 12,204,371 (GRCm39) K695R probably damaging Het
Cobl C A 11: 12,204,370 (GRCm39) K752N probably damaging Het
Cstdc5 G A 16: 36,179,899 (GRCm39) P73S probably benign Het
Dcaf6 T C 1: 165,165,915 (GRCm39) probably null Het
Ece2 A T 16: 20,451,398 (GRCm39) I197F probably damaging Het
Eif2b5 T G 16: 20,321,536 (GRCm39) V363G possibly damaging Het
Gca T C 2: 62,502,702 (GRCm39) S37P probably benign Het
Ghsr A C 3: 27,426,645 (GRCm39) I234L probably damaging Het
Grin3b A T 10: 79,808,723 (GRCm39) I158F possibly damaging Het
Gtf2h2 A T 13: 100,617,747 (GRCm39) D178E probably damaging Het
Herc2 A G 7: 55,747,246 (GRCm39) E461G probably damaging Het
Hsph1 T A 5: 149,547,057 (GRCm39) N531I possibly damaging Het
Insl6 G T 19: 29,302,529 (GRCm39) Q63K probably benign Het
Lrp1b T C 2: 40,592,806 (GRCm39) N3771S probably benign Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lvrn C T 18: 47,023,971 (GRCm39) Q773* probably null Het
Mterf1b T C 5: 4,246,478 (GRCm39) F40L possibly damaging Het
Nrg1 G A 8: 32,316,391 (GRCm39) probably benign Het
Or10ak13 T A 4: 118,639,117 (GRCm39) I222F possibly damaging Het
Or1n1 T A 2: 36,750,232 (GRCm39) I43F probably damaging Het
Or5p79 T C 7: 108,221,880 (GRCm39) I287T possibly damaging Het
Pax5 C T 4: 44,570,059 (GRCm39) V319I probably damaging Het
Plcz1 T A 6: 139,956,307 (GRCm39) T321S probably benign Het
Plekha6 A G 1: 133,212,676 (GRCm39) E660G probably damaging Het
Prep T C 10: 44,943,428 (GRCm39) M1T probably null Het
Prickle1 C T 15: 93,399,034 (GRCm39) S598N possibly damaging Het
Prtn3 A G 10: 79,716,932 (GRCm39) Q99R probably benign Het
Rad50 A G 11: 53,592,883 (GRCm39) V89A probably damaging Het
Ret T C 6: 118,153,213 (GRCm39) Y485C probably benign Het
Setd2 T A 9: 110,379,124 (GRCm39) F980I possibly damaging Het
Slc44a4 A G 17: 35,140,279 (GRCm39) Y228C probably damaging Het
Tex10 C T 4: 48,435,028 (GRCm39) C779Y possibly damaging Het
Tfdp2 T G 9: 96,199,592 (GRCm39) S285A probably benign Het
Thsd4 T A 9: 59,896,380 (GRCm39) probably benign Het
Tmem106a A C 11: 101,481,219 (GRCm39) E242D probably benign Het
Ttc22 T C 4: 106,495,669 (GRCm39) V341A probably benign Het
Ubr4 T A 4: 139,138,095 (GRCm39) S1151T probably damaging Het
Ubr4 G A 4: 139,120,470 (GRCm39) probably null Het
Vmn1r206 A T 13: 22,805,060 (GRCm39) L49* probably null Het
Vmn1r233 A T 17: 21,214,887 (GRCm39) F21Y probably benign Het
Vmn1r233 A T 17: 21,214,886 (GRCm39) F21L probably benign Het
Vmn2r15 A T 5: 109,441,134 (GRCm39) C241* probably null Het
Zmym6 T A 4: 127,003,764 (GRCm39) probably benign Het
Other mutations in Cdk5r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02450:Cdk5r1 APN 11 80,368,666 (GRCm39) missense probably benign 0.09
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