Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R5423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22658176-22675835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 22667212 bp (GRCm39)

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]

AlphaFold

Q3V1H1

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: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts9	A	G	6: 92,857,678 (GRCm39)	I289T	possibly damaging	Het
Ak4	T	G	4: 101,317,760 (GRCm39)	I110S	probably damaging	Het
Arhgap9	T	G	10: 127,165,418 (GRCm39)	I609S	probably damaging	Het
Arid4a	C	A	12: 71,116,634 (GRCm39)	S242*	probably null	Het
Ceacam1	T	G	7: 25,173,951 (GRCm39)	I235L	probably benign	Het
Chil3	T	C	3: 106,055,978 (GRCm39)	D365G	probably damaging	Het
Cyp2e1	G	T	7: 140,350,031 (GRCm39)	V239L	probably benign	Het
Dnah7b	T	A	1: 46,397,431 (GRCm39)	M3954K	probably benign	Het
Ercc6l2	A	T	13: 64,020,072 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,202,404 (GRCm39)	D468G	probably damaging	Het
Fbxo44	T	A	4: 148,238,686 (GRCm39)	I213F	probably benign	Het
Gm5084	A	G	13: 60,360,356 (GRCm39)		noncoding transcript	Het
Gpr17	G	A	18: 32,080,694 (GRCm39)	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376 (GRCm39)		probably benign	Het
H2-D1	T	G	17: 35,484,883 (GRCm39)	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,577,723 (GRCm39)	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 137,953,208 (GRCm39)	D84V	probably damaging	Het
Ift140	T	C	17: 25,252,059 (GRCm39)	F33S	probably damaging	Het
Inhbc	C	G	10: 127,193,296 (GRCm39)	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,449,610 (GRCm39)	E62V	probably damaging	Het
Kcna4	G	A	2: 107,126,151 (GRCm39)	W295*	probably null	Het
Kdm4a	C	T	4: 117,996,105 (GRCm39)	A975T	probably damaging	Het
Lrrtm3	T	C	10: 63,923,931 (GRCm39)	D412G	possibly damaging	Het
Midn	A	C	10: 79,991,027 (GRCm39)	I346L	probably benign	Het
Ndufa10	C	T	1: 92,390,042 (GRCm39)	D259N	probably benign	Het
Nefh	C	A	11: 4,890,985 (GRCm39)	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,399,784 (GRCm39)	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,378,367 (GRCm39)		probably benign	Het
Ptpro	G	T	6: 137,419,705 (GRCm39)	A184S	probably damaging	Het
Rab37	T	A	11: 115,047,853 (GRCm39)	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 28,844,561 (GRCm39)	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620 (GRCm39)	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,204,253 (GRCm39)		probably benign	Het
Shox2	A	G	3: 66,881,087 (GRCm39)		probably benign	Het
Skint6	T	G	4: 112,707,937 (GRCm39)	D977A	possibly damaging	Het
Slc25a23	C	T	17: 57,360,597 (GRCm39)	V248M	probably damaging	Het
Slco1a7	T	A	6: 141,690,188 (GRCm39)	K188N	probably damaging	Het
Smg1	A	T	7: 117,745,294 (GRCm39)	D3008E	possibly damaging	Het
St18	A	G	1: 6,872,840 (GRCm39)	S192G	possibly damaging	Het
Supt20	T	A	3: 54,616,746 (GRCm39)	V306E	probably damaging	Het
T	T	C	17: 8,660,597 (GRCm39)	Y403H	probably damaging	Het
Tars3	C	A	7: 65,333,567 (GRCm39)	N588K	probably benign	Het
Tmem132c	T	C	5: 127,640,907 (GRCm39)	V1026A	probably benign	Het
Trpv4	T	C	5: 114,774,506 (GRCm39)	T193A	probably benign	Het
Ubqln4	A	G	3: 88,470,506 (GRCm39)	N326S	probably damaging	Het
Uggt2	G	A	14: 119,256,898 (GRCm39)	T1112I	probably damaging	Het
Vasn	C	T	16: 4,466,284 (GRCm39)	P77L	probably benign	Het
Vps9d1	A	C	8: 123,974,704 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,415,418 (GRCm39)	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 105,958,430 (GRCm39)	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,590,473 (GRCm39)	L404F	possibly damaging	Het
Zscan30	T	C	18: 24,104,773 (GRCm39)		noncoding transcript	Het

Other mutations in Ckap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Ckap2	APN	8	22,659,774 (GRCm39)	missense	probably damaging	1.00
IGL01519:Ckap2	APN	8	22,658,914 (GRCm39)	missense	probably benign	0.00
R0530:Ckap2	UTSW	8	22,665,988 (GRCm39)	splice site	probably benign
R1638:Ckap2	UTSW	8	22,665,812 (GRCm39)	missense	possibly damaging	0.84
R1965:Ckap2	UTSW	8	22,665,803 (GRCm39)	missense	possibly damaging	0.95
R2047:Ckap2	UTSW	8	22,658,763 (GRCm39)	missense	probably benign	0.03
R3023:Ckap2	UTSW	8	22,665,877 (GRCm39)	missense	possibly damaging	0.95
R3843:Ckap2	UTSW	8	22,665,774 (GRCm39)	missense	probably damaging	0.98
R4587:Ckap2	UTSW	8	22,666,992 (GRCm39)	missense	probably benign
R4754:Ckap2	UTSW	8	22,658,911 (GRCm39)	missense	possibly damaging	0.93
R4847:Ckap2	UTSW	8	22,665,084 (GRCm39)	missense	probably damaging	0.98
R5354:Ckap2	UTSW	8	22,667,581 (GRCm39)	missense	probably damaging	0.96
R5717:Ckap2	UTSW	8	22,665,063 (GRCm39)	missense	probably damaging	0.98
R6518:Ckap2	UTSW	8	22,663,319 (GRCm39)	missense	probably benign	0.41
R7088:Ckap2	UTSW	8	22,659,882 (GRCm39)	missense	possibly damaging	0.59
R7466:Ckap2	UTSW	8	22,667,402 (GRCm39)	missense	probably benign	0.02
R7943:Ckap2	UTSW	8	22,665,090 (GRCm39)	missense	probably damaging	0.97
R8558:Ckap2	UTSW	8	22,658,811 (GRCm39)	missense	possibly damaging	0.92
R9224:Ckap2	UTSW	8	22,659,954 (GRCm39)	missense	possibly damaging	0.93
R9366:Ckap2	UTSW	8	22,658,988 (GRCm39)	missense	possibly damaging	0.71
R9454:Ckap2	UTSW	8	22,665,899 (GRCm39)	nonsense	probably null
X0058:Ckap2	UTSW	8	22,666,814 (GRCm39)	missense	probably benign
Z1176:Ckap2	UTSW	8	22,659,810 (GRCm39)	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