Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02557:Cdk5'

298320

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 #

IGL02557

Quality Score

Status

Chromosome

Chromosomal Location

24623239-24628528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24624651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 215 (S215T)

Ref Sequence

ENSEMBL: ENSMUSP00000142413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030814] [ENSMUST00000049346] [ENSMUST00000141966] [ENSMUST00000153274] [ENSMUST00000196296] [ENSMUST00000198990]

AlphaFold

P49615

Predicted Effect

probably benign
Transcript: ENSMUST00000030814
AA Change: S247T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030814
Gene: ENSMUSG00000028969
AA Change: S247T

Domain	Start	End	E-Value	Type
S_TKc	4	286	6.11e-101	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000049346

SMART Domains

Protein: ENSMUSP00000039914
Gene: ENSMUSG00000038276

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:ASC	21	459	4e-155	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197210

Predicted Effect

probably benign
Transcript: ENSMUST00000198990
AA Change: S215T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142413
Gene: ENSMUSG00000028969
AA Change: S215T

Domain	Start	End	E-Value	Type
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: ENSMUST00000198241

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,670,444 (GRCm39)	P222L	probably benign	Het
Alg12	T	A	15: 88,700,410 (GRCm39)	K9*	probably null	Het
Arhgap20	T	C	9: 51,732,573 (GRCm39)	V119A	probably damaging	Het
Arhgap45	T	C	10: 79,857,472 (GRCm39)	Y178H	probably damaging	Het
Atad2	A	T	15: 57,985,993 (GRCm39)	S243T	probably benign	Het
Atp13a5	A	C	16: 29,066,934 (GRCm39)	F1013V	probably benign	Het
Atp1a2	T	G	1: 172,106,218 (GRCm39)	T865P	possibly damaging	Het
Bcas2	T	C	3: 103,079,183 (GRCm39)		probably benign	Het
Ccnk	T	C	12: 108,161,985 (GRCm39)	S297P	unknown	Het
Ciita	T	A	16: 10,329,879 (GRCm39)	L798Q	probably damaging	Het
Clcn2	A	G	16: 20,527,214 (GRCm39)	S584P	probably damaging	Het
Cntn6	A	G	6: 104,751,496 (GRCm39)	Y384C	probably damaging	Het
Cyp2b10	T	A	7: 25,614,306 (GRCm39)	V260D	probably benign	Het
Dsel	A	T	1: 111,790,300 (GRCm39)	H78Q	probably damaging	Het
Eml3	T	C	19: 8,908,745 (GRCm39)		probably benign	Het
Fcgr2b	C	A	1: 170,790,891 (GRCm39)		probably null	Het
Fryl	A	T	5: 73,255,736 (GRCm39)	L765Q	probably damaging	Het
Gas2	T	A	7: 51,537,681 (GRCm39)	M2K	probably damaging	Het
Gm13941	T	C	2: 110,931,501 (GRCm39)	K44E	unknown	Het
Gm42878	A	G	5: 121,665,194 (GRCm39)	S205P	possibly damaging	Het
Hcn3	A	T	3: 89,057,178 (GRCm39)	S473R	probably damaging	Het
Hnrnpr	A	G	4: 136,046,817 (GRCm39)	E65G	probably damaging	Het
Ints1	A	T	5: 139,757,392 (GRCm39)	V375E	probably damaging	Het
Lama5	A	T	2: 179,832,725 (GRCm39)	C1642*	probably null	Het
Lsr	T	G	7: 30,657,919 (GRCm39)	E347A	possibly damaging	Het
Mapre2	C	A	18: 23,966,014 (GRCm39)	T33K	probably damaging	Het
Myo3b	T	A	2: 70,085,663 (GRCm39)	F772I	probably benign	Het
Myorg	C	T	4: 41,497,900 (GRCm39)	V577M	possibly damaging	Het
Nbas	T	C	12: 13,411,029 (GRCm39)	V891A	probably damaging	Het
Neurl4	A	T	11: 69,797,161 (GRCm39)	I583F	probably damaging	Het
Nsd1	T	C	13: 55,460,261 (GRCm39)	S2163P	probably damaging	Het
Nup210l	T	C	3: 90,031,537 (GRCm39)	Y288H	probably damaging	Het
Or10ak8	T	C	4: 118,774,389 (GRCm39)	T92A	probably benign	Het
Or4c107	A	G	2: 88,789,025 (GRCm39)	I72V	probably benign	Het
Pak1	A	G	7: 97,520,794 (GRCm39)	E151G	probably benign	Het
Phtf1	A	G	3: 103,906,081 (GRCm39)	N588D	probably damaging	Het
Prom2	T	C	2: 127,371,391 (GRCm39)	T756A	possibly damaging	Het
Ptgfrn	C	T	3: 100,967,952 (GRCm39)		probably null	Het
Seh1l	T	C	18: 67,922,483 (GRCm39)	S279P	probably benign	Het
Sema3f	A	T	9: 107,564,411 (GRCm39)	M35K	probably damaging	Het
Spesp1	T	C	9: 62,180,416 (GRCm39)	E164G	possibly damaging	Het
Sprr3	T	C	3: 92,364,473 (GRCm39)	T124A	possibly damaging	Het
Trim24	A	C	6: 37,942,434 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,148,418 (GRCm39)		probably benign	Het
Vmn2r77	T	A	7: 86,444,342 (GRCm39)		probably benign	Het

Other mutations in Cdk5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Cdk5	APN	5	24,624,593 (GRCm39)	splice site	probably null
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
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