Incidental Mutation 'IGL02147:Cdk5'
ID 281819
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 # IGL02147
Quality Score
Status
Chromosome 5
Chromosomal Location 24623239-24628528 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24625318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 165 (N165D)
Ref Sequence ENSEMBL: ENSMUSP00000142413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000049346] [ENSMUST00000080067] [ENSMUST00000141966] [ENSMUST00000198990] [ENSMUST00000153274] [ENSMUST00000196296]
AlphaFold P49615
Predicted Effect probably benign
Transcript: ENSMUST00000030814
AA Change: N197D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969
AA Change: N197D

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 probably benign
Transcript: ENSMUST00000080067
SMART Domains Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962

DomainStartEndE-ValueType
low complexity region 93 110 N/A INTRINSIC
low complexity region 112 135 N/A INTRINSIC
low complexity region 138 151 N/A INTRINSIC
low complexity region 169 178 N/A INTRINSIC
low complexity region 200 216 N/A INTRINSIC
low complexity region 296 313 N/A INTRINSIC
Pfam:Band_3_cyto 348 616 4.7e-111 PFAM
Pfam:HCO3_cotransp 671 1165 1.7e-217 PFAM
transmembrane domain 1183 1200 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139081
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: ENSMUST00000198990
AA Change: N165D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000142413
Gene: ENSMUSG00000028969
AA Change: N165D

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: ENSMUST00000197619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197210
Predicted Effect probably benign
Transcript: ENSMUST00000153274
Predicted Effect probably benign
Transcript: ENSMUST00000198442
Predicted Effect probably benign
Transcript: ENSMUST00000196296
SMART Domains Protein: ENSMUSP00000143083
Gene: ENSMUSG00000038276

DomainStartEndE-ValueType
Pfam:ASC 21 459 4e-155 PFAM
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
1700021P04Rik T C 19: 24,042,327 (GRCm39) noncoding transcript Het
Acadsb T A 7: 131,027,610 (GRCm39) probably benign Het
Ambra1 A G 2: 91,598,064 (GRCm39) H75R probably benign Het
Arhgef28 T A 13: 98,097,822 (GRCm39) I931F probably damaging Het
Col4a2 A T 8: 11,458,140 (GRCm39) Y272F probably benign Het
Csde1 T A 3: 102,947,250 (GRCm39) D67E probably damaging Het
Dhx34 T C 7: 15,937,928 (GRCm39) H724R probably benign Het
Dhx57 T C 17: 80,567,752 (GRCm39) D777G possibly damaging Het
Fat3 A C 9: 15,907,281 (GRCm39) V2907G probably damaging Het
Fst T C 13: 114,590,896 (GRCm39) Y290C probably damaging Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Igkv4-92 C T 6: 68,732,236 (GRCm39) S46N probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lgalsl2 T A 7: 5,362,732 (GRCm39) I121N probably damaging Het
Lmtk2 A G 5: 144,093,754 (GRCm39) M244V possibly damaging Het
Mcoln1 T C 8: 3,558,379 (GRCm39) F211S probably benign Het
Mib2 C A 4: 155,742,144 (GRCm39) R209L probably benign Het
Msx3 C A 7: 139,628,798 (GRCm39) V39L possibly damaging Het
Mtnr1b A G 9: 15,774,672 (GRCm39) F129S probably damaging Het
Nr3c2 A G 8: 77,635,696 (GRCm39) S266G probably damaging Het
Nup160 G T 2: 90,534,285 (GRCm39) L703F probably benign Het
Or10c1 T A 17: 37,521,877 (GRCm39) Y289F probably damaging Het
Or5t5 A G 2: 86,616,494 (GRCm39) N140S probably benign Het
Pcyt1a T A 16: 32,280,916 (GRCm39) N105K probably damaging Het
Pdhx A G 2: 102,860,686 (GRCm39) probably benign Het
Qpct T C 17: 79,378,145 (GRCm39) V105A probably damaging Het
Ros1 A C 10: 51,996,991 (GRCm39) F1227C probably damaging Het
Rrp12 A T 19: 41,874,620 (GRCm39) V342E probably damaging Het
Sart3 A G 5: 113,901,004 (GRCm39) probably benign Het
Slc6a18 T A 13: 73,816,281 (GRCm39) K366M probably damaging Het
Smarca4 A G 9: 21,546,999 (GRCm39) N175D probably damaging Het
Sox14 T C 9: 99,757,598 (GRCm39) K47R probably damaging Het
Trcg1 A T 9: 57,153,132 (GRCm39) I592F probably benign Het
Ush2a T C 1: 188,596,900 (GRCm39) M3880T probably benign Het
Usp20 T C 2: 30,896,413 (GRCm39) F172S probably damaging Het
Vmn2r4 C T 3: 64,305,782 (GRCm39) probably benign Het
Other mutations in Cdk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Cdk5 APN 5 24,624,593 (GRCm39) splice site probably null
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 2015-04-16