Mutagenetix > Incidental Mutation

Incidental Mutation 'R4803:Ckap2l'

370444

Institutional Source

Beutler Lab

Gene Symbol

Ckap2l

Ensembl Gene

ENSMUSG00000048327

Gene Name

cytoskeleton associated protein 2-like

Synonyms

Radmis, 2010016H04Rik, 2610318C08Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R4803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129110130-129139132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129111176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 674 (G674R)

Ref Sequence

ENSEMBL: ENSMUSP00000056145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052708]

AlphaFold

Q7TS74

Predicted Effect

probably damaging
Transcript: ENSMUST00000052708
AA Change: G674R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: G674R

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
Pfam:CKAP2_C	425	644	3e-32	PFAM
Pfam:CKAP2_C	675	734	6.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141964

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Anxa8	T	A	14: 33,814,579 (GRCm39)		probably null	Het
Ap4e1	A	G	2: 126,891,479 (GRCm39)	I83M	probably benign	Het
Arhgap44	G	C	11: 64,943,921 (GRCm39)	P197A	probably benign	Het
Asb1	T	A	1: 91,480,051 (GRCm39)	V157E	probably damaging	Het
B3gat1	T	A	9: 26,666,986 (GRCm39)	Y73N	probably benign	Het
Bmp8a	G	A	4: 123,218,362 (GRCm39)	T219I	possibly damaging	Het
Cacna1c	G	A	6: 118,728,502 (GRCm39)	S285F	probably damaging	Het
Cd163	A	G	6: 124,289,389 (GRCm39)	D369G	probably damaging	Het
Cog2	A	G	8: 125,262,190 (GRCm39)	Y276C	probably damaging	Het
Col16a1	A	T	4: 129,948,901 (GRCm39)		probably benign	Het
Col5a1	G	A	2: 27,901,353 (GRCm39)	G1282R	unknown	Het
Cyp2c29	A	T	19: 39,313,439 (GRCm39)	M351L	probably benign	Het
Cyp4f15	T	A	17: 32,911,554 (GRCm39)	D145E	probably benign	Het
Defb48	T	C	14: 63,221,906 (GRCm39)	Y4C	unknown	Het
Dnaaf3	T	C	7: 4,529,903 (GRCm39)	Q292R	probably benign	Het
Dnah11	T	C	12: 118,091,343 (GRCm39)	M930V	possibly damaging	Het
Dnaja2	A	T	8: 86,280,029 (GRCm39)	I50K	probably damaging	Het
Dnm2	A	G	9: 21,385,925 (GRCm39)	N316S	probably damaging	Het
Dusp12	A	G	1: 170,708,175 (GRCm39)	Y181H	possibly damaging	Het
Efemp1	T	G	11: 28,871,795 (GRCm39)	F437V	possibly damaging	Het
Eps8l3	T	A	3: 107,798,325 (GRCm39)	V464D	probably damaging	Het
Fat2	A	T	11: 55,175,886 (GRCm39)	L1609Q	probably benign	Het
Fbxw24	C	T	9: 109,453,910 (GRCm39)	V79I	probably benign	Het
Fgl2	A	T	5: 21,580,918 (GRCm39)	Q420L	probably benign	Het
Filip1	T	C	9: 79,727,396 (GRCm39)	K408E	probably benign	Het
Fkbp9	A	C	6: 56,852,692 (GRCm39)	I471L	probably benign	Het
Fndc1	A	T	17: 7,972,538 (GRCm39)	S1465T	probably damaging	Het
Fry	A	T	5: 150,322,998 (GRCm39)	T1050S	probably benign	Het
Gm12258	G	A	11: 58,749,856 (GRCm39)	V344I	probably benign	Het
Gtf3c1	A	G	7: 125,262,712 (GRCm39)	V1049A	probably damaging	Het
Ireb2	A	G	9: 54,814,098 (GRCm39)	E829G	probably benign	Het
Itih5	G	A	2: 10,245,392 (GRCm39)	V494I	probably benign	Het
Krt75	A	T	15: 101,476,507 (GRCm39)	D419E	probably benign	Het
Lama1	T	C	17: 68,116,266 (GRCm39)	S2378P	probably damaging	Het
Lcorl	T	A	5: 45,904,623 (GRCm39)		probably null	Het
Man2a1	A	T	17: 64,966,004 (GRCm39)	H314L	probably damaging	Het
Mthfd1l	T	A	10: 3,957,840 (GRCm39)	H292Q	possibly damaging	Het
Ocm	A	T	5: 143,960,686 (GRCm39)	M87K	possibly damaging	Het
Oplah	A	G	15: 76,186,968 (GRCm39)	Y616H	probably damaging	Het
Or4s2b	A	T	2: 88,508,366 (GRCm39)	S56C	probably benign	Het
Or52e4	A	C	7: 104,705,863 (GRCm39)	I137L	probably benign	Het
Or5b99	T	C	19: 12,976,533 (GRCm39)	L61P	probably damaging	Het
Or5p58	A	C	7: 107,694,666 (GRCm39)	I37S	probably damaging	Het
Or8c13	C	A	9: 38,091,546 (GRCm39)	S191I	probably damaging	Het
Or8g32	A	G	9: 39,305,932 (GRCm39)	T282A	probably benign	Het
Pde3a	G	A	6: 141,404,812 (GRCm39)	V346M	probably damaging	Het
Pdlim1	T	A	19: 40,231,892 (GRCm39)	E162V	possibly damaging	Het
Pdzd2	C	G	15: 12,374,681 (GRCm39)	S1818T	probably benign	Het
Phf24	G	A	4: 42,933,731 (GRCm39)	G38S	probably damaging	Het
Plekhg1	T	C	10: 3,907,186 (GRCm39)	V701A	probably benign	Het
Ppard	C	G	17: 28,505,348 (GRCm39)	R12G	unknown	Het
Ptprz1	A	G	6: 23,001,545 (GRCm39)	S1212G	probably benign	Het
Rab3il1	C	A	19: 10,004,808 (GRCm39)	Q110K	possibly damaging	Het
Rin3	A	T	12: 102,327,642 (GRCm39)		probably benign	Het
Rps6kb2	T	A	19: 4,208,677 (GRCm39)	K280*	probably null	Het
Slc27a6	G	T	18: 58,705,105 (GRCm39)	L162F	possibly damaging	Het
Slc6a19	T	A	13: 73,832,161 (GRCm39)	I472F	possibly damaging	Het
Spatc1l	G	A	10: 76,405,206 (GRCm39)	R196Q	probably damaging	Het
Srp72	T	C	5: 77,132,231 (GRCm39)	I273T	probably damaging	Het
St8sia1	C	A	6: 142,813,649 (GRCm39)	S171I	probably benign	Het
Tas2r136	T	C	6: 132,754,455 (GRCm39)	H224R	probably damaging	Het
Tas2r140	A	G	6: 133,032,743 (GRCm39)	V5A	possibly damaging	Het
Tbce	C	T	13: 14,194,446 (GRCm39)	R71H	probably damaging	Het
Tdrd9	A	T	12: 111,963,269 (GRCm39)	K115*	probably null	Het
Thada	T	A	17: 84,580,245 (GRCm39)	H1403L	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Timm44	A	G	8: 4,317,932 (GRCm39)	S159P	probably damaging	Het
Tlk2	T	A	11: 105,171,926 (GRCm39)	C699S	probably damaging	Het
Tmem178b	A	G	6: 39,981,160 (GRCm39)	K65R	probably damaging	Het
Ttc28	T	C	5: 111,425,329 (GRCm39)	V1718A	possibly damaging	Het
Ttc6	T	G	12: 57,775,291 (GRCm39)	C1662W	probably damaging	Het
Ube2frt	T	A	12: 36,140,729 (GRCm39)		probably benign	Het
Unc13a	C	A	8: 72,115,494 (GRCm39)		probably null	Het
Vip	A	T	10: 5,594,099 (GRCm39)	I151F	probably damaging	Het
Vps16	C	T	2: 130,280,030 (GRCm39)	P85L	probably benign	Het
Wdsub1	T	C	2: 59,700,743 (GRCm39)		probably benign	Het
Zc3h12c	T	C	9: 52,027,853 (GRCm39)	D503G	probably damaging	Het

Other mutations in Ckap2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Ckap2l	APN	2	129,111,136 (GRCm39)	missense	probably damaging	1.00
IGL02120:Ckap2l	APN	2	129,127,542 (GRCm39)	missense	possibly damaging	0.58
IGL03085:Ckap2l	APN	2	129,126,967 (GRCm39)	missense	probably benign	0.00
IGL03175:Ckap2l	APN	2	129,127,437 (GRCm39)	missense	probably benign	0.01
IGL03333:Ckap2l	APN	2	129,138,228 (GRCm39)	splice site	probably null
R0196:Ckap2l	UTSW	2	129,127,342 (GRCm39)	missense	probably benign	0.43
R0501:Ckap2l	UTSW	2	129,127,411 (GRCm39)	missense	possibly damaging	0.78
R0715:Ckap2l	UTSW	2	129,127,636 (GRCm39)	missense	probably benign	0.02
R0834:Ckap2l	UTSW	2	129,138,224 (GRCm39)	splice site	probably benign
R1119:Ckap2l	UTSW	2	129,114,492 (GRCm39)	splice site	probably benign
R1561:Ckap2l	UTSW	2	129,112,645 (GRCm39)	missense	probably benign	0.01
R1677:Ckap2l	UTSW	2	129,127,087 (GRCm39)	missense	possibly damaging	0.86
R1823:Ckap2l	UTSW	2	129,117,499 (GRCm39)	missense	probably damaging	1.00
R1971:Ckap2l	UTSW	2	129,127,342 (GRCm39)	missense	possibly damaging	0.92
R5214:Ckap2l	UTSW	2	129,127,389 (GRCm39)	missense	probably benign	0.02
R5264:Ckap2l	UTSW	2	129,127,299 (GRCm39)	missense	probably benign	0.01
R5297:Ckap2l	UTSW	2	129,127,290 (GRCm39)	missense	possibly damaging	0.56
R5535:Ckap2l	UTSW	2	129,127,762 (GRCm39)	missense	probably benign	0.00
R5606:Ckap2l	UTSW	2	129,127,959 (GRCm39)	missense	probably damaging	0.98
R6327:Ckap2l	UTSW	2	129,127,414 (GRCm39)	missense	probably damaging	1.00
R6489:Ckap2l	UTSW	2	129,111,034 (GRCm39)	missense	possibly damaging	0.85
R6726:Ckap2l	UTSW	2	129,111,114 (GRCm39)	missense	probably damaging	1.00
R7199:Ckap2l	UTSW	2	129,126,975 (GRCm39)	missense	probably benign	0.25
R7220:Ckap2l	UTSW	2	129,117,436 (GRCm39)	missense	probably damaging	1.00
R7329:Ckap2l	UTSW	2	129,127,284 (GRCm39)	missense	possibly damaging	0.56
R7374:Ckap2l	UTSW	2	129,126,883 (GRCm39)	missense	probably damaging	1.00
R7383:Ckap2l	UTSW	2	129,111,172 (GRCm39)	missense	possibly damaging	0.88
R7484:Ckap2l	UTSW	2	129,114,455 (GRCm39)	missense	possibly damaging	0.82
R7611:Ckap2l	UTSW	2	129,127,600 (GRCm39)	missense	possibly damaging	0.88
R7868:Ckap2l	UTSW	2	129,127,209 (GRCm39)	missense	probably damaging	1.00
R8338:Ckap2l	UTSW	2	129,126,939 (GRCm39)	missense	probably damaging	0.99
R8514:Ckap2l	UTSW	2	129,127,788 (GRCm39)	missense	possibly damaging	0.61
R8790:Ckap2l	UTSW	2	129,111,172 (GRCm39)	missense	possibly damaging	0.88
R9043:Ckap2l	UTSW	2	129,126,892 (GRCm39)	missense	probably damaging	0.99
R9215:Ckap2l	UTSW	2	129,123,826 (GRCm39)	missense	possibly damaging	0.74
R9496:Ckap2l	UTSW	2	129,112,595 (GRCm39)	missense	probably benign	0.37
R9526:Ckap2l	UTSW	2	129,111,161 (GRCm39)	nonsense	probably null
RF037:Ckap2l	UTSW	2	129,112,569 (GRCm39)	small deletion	probably benign
Z1176:Ckap2l	UTSW	2	129,127,282 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTCAAAGCCCAGTGTCAC -3'
(R):5'- CTGTAAAGCAGTTGACTTCACATC -3'

Sequencing Primer
(F):5'- GGCAAAGCCTCATTTTCACGG -3'
(R):5'- GTTGACTTCACATCAAAACCATCTTC -3'

Posted On

2016-02-04