Mutagenetix > Incidental Mutations

Incidental Mutation 'R5423:Ckap2'

426710

Institutional Source

Beutler Lab

Gene Symbol

Ckap2

Ensembl Gene

ENSMUSG00000037725

Gene Name

cytoskeleton associated protein 2

Synonyms

LB1

MMRRC Submission

042989-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R5423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22168160-22185819 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 22177196 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 216 (S216R)

Ref Sequence

ENSEMBL: ENSMUSP00000039518 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046916
AA Change: S216R

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000039518
Gene: ENSMUSG00000037725
AA Change: S216R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (60/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Adamts9	A	G	6: 92,880,697	I289T	possibly damaging	Het
Ak4	T	G	4: 101,460,563	I110S	probably damaging	Het
Arhgap9	T	G	10: 127,329,549	I609S	probably damaging	Het
Arid4a	C	A	12: 71,069,860	S242*	probably null	Het
Ceacam1	T	G	7: 25,474,526	I235L	probably benign	Het
Chil3	T	C	3: 106,148,662	D365G	probably damaging	Het
Cyp2e1	G	T	7: 140,770,118	V239L	probably benign	Het
Dnah7b	T	A	1: 46,358,271	M3954K	probably benign	Het
Ercc6l2	A	T	13: 63,872,258		probably benign	Het
Etv5	T	C	16: 22,383,654	D468G	probably damaging	Het
Fbxo44	T	A	4: 148,154,229	I213F	probably benign	Het
Gm5084	A	G	13: 60,212,542		noncoding transcript	Het
Gm5724	T	A	6: 141,744,462	K188N	probably damaging	Het
Gpr17	G	A	18: 31,947,641	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376		probably benign	Het
H2-D1	T	G	17: 35,265,907	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,701,972	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 138,225,897	D84V	probably damaging	Het
Ift140	T	C	17: 25,033,085	F33S	probably damaging	Het
Inhbc	C	G	10: 127,357,427	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,799,862	E62V	probably damaging	Het
Kcna4	G	A	2: 107,295,806	W295*	probably null	Het
Kdm4a	C	T	4: 118,138,908	A975T	probably damaging	Het
Lrrtm3	T	C	10: 64,088,152	D412G	possibly damaging	Het
Midn	A	C	10: 80,155,193	I346L	probably benign	Het
Ndufa10	C	T	1: 92,462,320	D259N	probably benign	Het
Nefh	C	A	11: 4,940,985	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,508,958	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,460,130		probably benign	Het
Ptpro	G	T	6: 137,442,707	A184S	probably damaging	Het
Rab37	T	A	11: 115,157,027	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 29,145,136	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,237,994		probably benign	Het
Shox2	A	G	3: 66,973,754		probably benign	Het
Skint6	T	G	4: 112,850,740	D977A	possibly damaging	Het
Slc25a23	C	T	17: 57,053,597	V248M	probably damaging	Het
Smg1	A	T	7: 118,146,071	D3008E	possibly damaging	Het
St18	A	G	1: 6,802,616	S192G	possibly damaging	Het
Supt20	T	A	3: 54,709,325	V306E	probably damaging	Het
T	T	C	17: 8,441,765	Y403H	probably damaging	Het
Tarsl2	C	A	7: 65,683,819	N588K	probably benign	Het
Tmem132c	T	C	5: 127,563,843	V1026A	probably benign	Het
Trpv4	T	C	5: 114,636,445	T193A	probably benign	Het
Ubqln4	A	G	3: 88,563,199	N326S	probably damaging	Het
Uggt2	G	A	14: 119,019,486	T1112I	probably damaging	Het
Vasn	C	T	16: 4,648,420	P77L	probably benign	Het
Vps9d1	A	C	8: 123,247,965		probably null	Het
Washc4	C	A	10: 83,579,554	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 106,030,700	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,442,354	L404F	possibly damaging	Het
Zscan30	T	C	18: 23,971,716		noncoding transcript	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
R3023:Ckap2	UTSW	8	22175861	missense	possibly damaging	0.95
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
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'- TGACTGTAACATTGGCAAGCGG -3'
(R):5'- CCCGGCATGTCACCATAAAG -3'

Sequencing Primer
(F):5'- GAACTACTGTGGAGGCTT -3'
(R):5'- AATGACTGCAGAGAAGCCC -3'

Posted On

2016-09-01