Incidental Mutation 'IGL01311:Cdk5'
ID 73698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk5
Ensembl Gene ENSMUSG00000028969
Gene Name cyclin dependent kinase 5
Synonyms Crk6
Accession Numbers
Essential gene? Probably essential (E-score: 0.776) question?
Stock # IGL01311
Quality Score
Status
Chromosome 5
Chromosomal Location 24623239-24628528 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 24624593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000049346] [ENSMUST00000141966] [ENSMUST00000153274] [ENSMUST00000196296] [ENSMUST00000198990]
AlphaFold P49615
Predicted Effect probably null
Transcript: ENSMUST00000030814
SMART Domains Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969

DomainStartEndE-ValueType
S_TKc 4 286 6.11e-101 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000049346
SMART Domains Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276

DomainStartEndE-ValueType
Pfam:ASC 21 458 2.5e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127315
Predicted Effect probably benign
Transcript: ENSMUST00000141966
SMART Domains Protein: ENSMUSP00000117215
Gene: ENSMUSG00000028962

DomainStartEndE-ValueType
low complexity region 93 110 N/A INTRINSIC
low complexity region 113 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153274
Predicted Effect probably benign
Transcript: ENSMUST00000196296
SMART Domains Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276

DomainStartEndE-ValueType
Pfam:ASC 21 459 4e-155 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000198990
SMART Domains Protein: ENSMUSP00000142413
Gene: ENSMUSG00000028969

DomainStartEndE-ValueType
Pfam:Pkinase 4 101 9.7e-23 PFAM
Pfam:Pkinase_Tyr 4 102 2.7e-13 PFAM
Pfam:Pkinase 97 254 6.6e-30 PFAM
Pfam:Pkinase_Tyr 102 200 9.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197210
Predicted Effect probably benign
Transcript: ENSMUST00000198442
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality and abnormalities of the cerebellum and nervous system. Mutant mice are cyanotic, hypoactive, exhibit shallow breathing, and fail to suckle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 A T 7: 101,037,343 (GRCm39) K457* probably null Het
Arhgef10 C A 8: 15,041,054 (GRCm39) probably null Het
Becn1 C T 11: 101,182,342 (GRCm39) G281S probably damaging Het
Borcs8 A G 8: 70,617,818 (GRCm39) S59G probably damaging Het
Brd10 C T 19: 29,731,420 (GRCm39) V531I probably benign Het
Capn5 C A 7: 97,811,130 (GRCm39) R53L probably damaging Het
Cnksr1 A G 4: 133,957,777 (GRCm39) L434P probably damaging Het
Col22a1 C T 15: 71,845,486 (GRCm39) probably benign Het
Fn1 T C 1: 71,667,299 (GRCm39) D811G probably damaging Het
Haus3 G A 5: 34,324,988 (GRCm39) Q224* probably null Het
Jakmip2 A G 18: 43,690,389 (GRCm39) probably benign Het
Jam3 T G 9: 27,010,019 (GRCm39) T296P probably damaging Het
Kcnrg T C 14: 61,849,274 (GRCm39) L245P probably damaging Het
Kif1b A G 4: 149,305,059 (GRCm39) L909P probably damaging Het
Klrc3 T C 6: 129,618,375 (GRCm39) D136G probably damaging Het
Lrrc37 T A 11: 103,425,502 (GRCm39) R1450S unknown Het
Ltf T C 9: 110,860,080 (GRCm39) probably benign Het
Meig1 A T 2: 3,410,245 (GRCm39) V85D possibly damaging Het
Mrgprb2 T A 7: 48,201,746 (GRCm39) E326D probably benign Het
Nlrp2 T A 7: 5,322,238 (GRCm39) D65V possibly damaging Het
Or4c100 T C 2: 88,356,104 (GRCm39) F59S possibly damaging Het
Or52h7 T C 7: 104,214,036 (GRCm39) Y203H probably damaging Het
Padi2 G A 4: 140,644,948 (GRCm39) V61I probably benign Het
Pkd1l1 T C 11: 8,851,174 (GRCm39) S753G possibly damaging Het
Ppp4r3b T C 11: 29,144,591 (GRCm39) S314P probably benign Het
Serpina3i T C 12: 104,233,946 (GRCm39) S305P probably damaging Het
Slc16a4 G T 3: 107,199,821 (GRCm39) V23F possibly damaging Het
Slc25a34 G A 4: 141,348,747 (GRCm39) T239I possibly damaging Het
Srebf2 T C 15: 82,076,404 (GRCm39) probably benign Het
Tasor2 A G 13: 3,625,885 (GRCm39) V1355A possibly damaging Het
Tcf12 A T 9: 71,765,938 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,586,077 (GRCm39) E171G possibly damaging Het
Ubr4 A G 4: 139,206,356 (GRCm39) H4864R possibly damaging Het
Vmn2r108 A T 17: 20,682,939 (GRCm39) L755* probably null Het
Zfp292 C T 4: 34,807,961 (GRCm39) M1699I probably benign Het
Zmynd8 T C 2: 165,647,129 (GRCm39) D880G probably damaging Het
Other mutations in Cdk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02147:Cdk5 APN 5 24,625,318 (GRCm39) missense probably benign 0.01
IGL02395:Cdk5 APN 5 24,624,635 (GRCm39) missense possibly damaging 0.79
IGL02557:Cdk5 APN 5 24,624,651 (GRCm39) missense probably benign 0.00
R4503:Cdk5 UTSW 5 24,624,617 (GRCm39) missense possibly damaging 0.75
R5103:Cdk5 UTSW 5 24,627,833 (GRCm39) missense probably damaging 1.00
R5215:Cdk5 UTSW 5 24,624,459 (GRCm39) missense probably benign 0.24
R7972:Cdk5 UTSW 5 24,624,656 (GRCm39) missense probably benign
R8057:Cdk5 UTSW 5 24,625,782 (GRCm39) missense probably damaging 1.00
R8923:Cdk5 UTSW 5 24,625,284 (GRCm39) missense possibly damaging 0.86
R8968:Cdk5 UTSW 5 24,627,379 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07