Mutagenetix > Incidental Mutations

Incidental Mutation 'R3023:Ckap2'

265757

Institutional Source

Beutler Lab

Gene Symbol

Ckap2

Ensembl Gene

ENSMUSG00000037725

Gene Name

cytoskeleton associated protein 2

Synonyms

LB1

MMRRC Submission

040539-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R3023 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22168160-22185819 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22175861 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 390 (N390S)

Ref Sequence

ENSEMBL: ENSMUSP00000039518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046916]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046916
AA Change: N390S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039518
Gene: ENSMUSG00000037725
AA Change: N390S

Domain	Start	End	E-Value	Type
low complexity region	221	234	N/A	INTRINSIC
Pfam:CKAP2_C	315	651	3.9e-168	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211045

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,669,572	E1060D	probably benign	Het
Abca15	A	T	7: 120,382,779	I1106F	probably benign	Het
Arl5a	A	G	2: 52,416,197	V41A	probably benign	Het
Atp8b5	A	G	4: 43,311,957	D190G	possibly damaging	Het
Cc2d2a	T	A	5: 43,685,251		probably null	Het
Dtx3l	A	G	16: 35,932,436	I600T	probably benign	Het
Epb41l1	A	C	2: 156,514,209	E555A	probably damaging	Het
Fxr1	G	A	3: 34,064,224	R503H	probably damaging	Het
Igf1r	A	G	7: 68,183,399	N436D	probably benign	Het
Kif26b	G	A	1: 178,864,868	C11Y	probably damaging	Het
Olfr1251	A	G	2: 89,667,646	I80T	possibly damaging	Het
Osbpl6	A	T	2: 76,586,733	I703F	probably damaging	Het
Plcd4	A	G	1: 74,548,192	Y37C	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781		probably benign	Het
Pwwp2b	G	A	7: 139,256,194	R517H	probably damaging	Het
Rp1	G	A	1: 4,352,675	R61W	probably damaging	Het
Sdk1	C	G	5: 142,046,236	T1022S	probably benign	Het
Slc12a7	T	A	13: 73,800,422	S669T	probably benign	Het
Sstr3	G	A	15: 78,539,987	R187W	probably damaging	Het
Tlr2	C	T	3: 83,837,871	V302I	probably benign	Het
Trav7-6	A	G	14: 53,717,244	K77R	probably benign	Het
Vmn2r18	T	C	5: 151,561,683	N782S	probably benign	Het
Vmn2r78	G	T	7: 86,954,966	S784I	probably damaging	Het

Other mutations in Ckap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Ckap2	APN	8	22169758	missense	probably damaging	1.00
IGL01519:Ckap2	APN	8	22168898	missense	probably benign	0.00
R0530:Ckap2	UTSW	8	22175972	splice site	probably benign
R1638:Ckap2	UTSW	8	22175796	missense	possibly damaging	0.84
R1965:Ckap2	UTSW	8	22175787	missense	possibly damaging	0.95
R2047:Ckap2	UTSW	8	22168747	missense	probably benign	0.03
R3843:Ckap2	UTSW	8	22175758	missense	probably damaging	0.98
R4587:Ckap2	UTSW	8	22176976	missense	probably benign
R4754:Ckap2	UTSW	8	22168895	missense	possibly damaging	0.93
R4847:Ckap2	UTSW	8	22175068	missense	probably damaging	0.98
R5354:Ckap2	UTSW	8	22177565	missense	probably damaging	0.96
R5423:Ckap2	UTSW	8	22177196	missense	probably benign	0.33
R5717:Ckap2	UTSW	8	22175047	missense	probably damaging	0.98
R6518:Ckap2	UTSW	8	22173303	missense	probably benign	0.41
R7088:Ckap2	UTSW	8	22169866	missense	possibly damaging	0.59
R7466:Ckap2	UTSW	8	22177386	missense	probably benign	0.02
R7943:Ckap2	UTSW	8	22175074	missense	probably damaging	0.97
X0058:Ckap2	UTSW	8	22176798	missense	probably benign
Z1176:Ckap2	UTSW	8	22169794	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTATAAAGATAAGGGCTCTACCAAG -3'
(R):5'- GTTTAGAACGATGGATAGACTTGAG -3'

Sequencing Primer
(F):5'- CAGAGGATCTGGGTTCAATTCCC -3'
(R):5'- ATCAAACCAGGGTCCTTTGG -3'

Posted On

2015-02-05