Mutagenetix > Incidental Mutation

Incidental Mutation 'R0715:Ckap2l'

62806

Institutional Source

Beutler Lab

Gene Symbol

Ckap2l

Ensembl Gene

ENSMUSG00000048327

Gene Name

cytoskeleton associated protein 2-like

Synonyms

MMRRC Submission

038898-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

R0715 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

129268210-129297212 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129285716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 181 (T181A)

Ref Sequence

ENSEMBL: ENSMUSP00000056145 (fasta)

Gene Model

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

AlphaFold

Q7TS74

Predicted Effect

probably benign
Transcript: ENSMUST00000052708
AA Change: T181A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: T181A

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

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,223,092	C1933S	probably benign	Het
4930438A08Rik	A	G	11: 58,288,350	Y170C	probably damaging	Het
Adcy2	C	T	13: 68,888,042	V167I	probably benign	Het
Agl	A	G	3: 116,752,176	Y1324H	probably damaging	Het
Arhgef37	G	T	18: 61,508,789	Q170K	probably damaging	Het
Asah2	A	G	19: 32,016,776	S390P	probably damaging	Het
Atp8a1	A	T	5: 67,774,725	H240Q	probably benign	Het
Btbd16	T	A	7: 130,788,827	N151K	probably damaging	Het
Ccdc73	T	A	2: 104,973,154		probably benign	Het
Cecr2	G	T	6: 120,758,198	M21I	probably benign	Het
Col4a3	T	C	1: 82,652,158		probably benign	Het
Dnah9	A	G	11: 66,081,248		probably benign	Het
Fat3	T	C	9: 16,375,123	T1035A	probably benign	Het
Fzd8	A	G	18: 9,212,947	T10A	unknown	Het
Gm11639	T	C	11: 104,720,880	L516P	possibly damaging	Het
Gm9631	C	A	11: 121,942,502	C636F	probably damaging	Het
Gp1ba	A	G	11: 70,640,788		probably benign	Het
Gsk3a	A	G	7: 25,231,709	V277A	probably damaging	Het
H2-M1	T	A	17: 36,670,228		probably benign	Het
Hesx1	T	A	14: 27,000,852	W45R	probably damaging	Het
Il23r	T	A	6: 67,486,333	M59L	possibly damaging	Het
Insc	T	A	7: 114,845,077	V433E	probably benign	Het
Itga8	T	C	2: 12,191,242		probably benign	Het
Kif13a	T	A	13: 46,812,823	E436V	probably damaging	Het
Liph	A	G	16: 21,995,350	F7S	probably benign	Het
Lpar2	T	C	8: 69,824,173	V204A	probably damaging	Het
Lrfn4	T	A	19: 4,612,640		probably null	Het
Man2b2	A	T	5: 36,826,058	D182E	probably benign	Het
Mmp27	T	C	9: 7,581,155		probably benign	Het
Mrm1	A	G	11: 84,814,813		probably benign	Het
Mtx3	T	C	13: 92,850,361	S271P	probably damaging	Het
Myh11	A	T	16: 14,226,616	M641K	possibly damaging	Het
Necab2	A	G	8: 119,470,931	D332G	probably damaging	Het
Ngfr	A	G	11: 95,574,239	I261T	possibly damaging	Het
Nrap	T	C	19: 56,357,325	E617G	probably damaging	Het
Obscn	G	T	11: 59,050,480	T4505K	probably benign	Het
Olfr884	G	T	9: 38,047,827	V202L	probably benign	Het
Olfr983	A	G	9: 40,092,511	Y148H	probably damaging	Het
Osbpl11	T	A	16: 33,241,730		probably benign	Het
Otof	A	G	5: 30,394,697	V301A	probably damaging	Het
Phf3	A	T	1: 30,811,838	L1145Q	probably damaging	Het
Phospho2	T	A	2: 69,796,196	I232N	possibly damaging	Het
Pomgnt2	T	A	9: 121,982,061	K551N	probably damaging	Het
Ptchd3	A	G	11: 121,831,158	T286A	possibly damaging	Het
Rnf213	A	G	11: 119,441,150	D2396G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,423,341	E836G	possibly damaging	Het
Simc1	G	T	13: 54,525,655	M605I	possibly damaging	Het
Slc12a3	G	A	8: 94,329,433	E66K	possibly damaging	Het
Spg11	T	C	2: 122,084,983	N1060S	probably benign	Het
Supt5	A	T	7: 28,329,037	W178R	probably damaging	Het
Tmem41a	G	T	16: 21,937,990	F126L	probably benign	Het
Ube2m	T	A	7: 13,037,626	Q35L	probably benign	Het
Usp33	A	G	3: 152,380,574	D658G	probably damaging	Het
Vmn2r12	A	T	5: 109,090,507	C456S	probably benign	Het
Vmn2r81	T	A	10: 79,268,600	D352E	probably damaging	Het
Zfp516	A	G	18: 82,987,263	Y764C	probably damaging	Het
Zswim7	A	G	11: 62,276,647		probably benign	Het

Other mutations in Ckap2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Ckap2l	APN	2	129269216	missense	probably damaging	1.00
IGL02120:Ckap2l	APN	2	129285622	missense	possibly damaging	0.58
IGL03085:Ckap2l	APN	2	129285047	missense	probably benign	0.00
IGL03175:Ckap2l	APN	2	129285517	missense	probably benign	0.01
IGL03333:Ckap2l	APN	2	129296308	splice site	probably null
R0196:Ckap2l	UTSW	2	129285422	missense	probably benign	0.43
R0501:Ckap2l	UTSW	2	129285491	missense	possibly damaging	0.78
R0834:Ckap2l	UTSW	2	129296304	splice site	probably benign
R1119:Ckap2l	UTSW	2	129272572	splice site	probably benign
R1561:Ckap2l	UTSW	2	129270725	missense	probably benign	0.01
R1677:Ckap2l	UTSW	2	129285167	missense	possibly damaging	0.86
R1823:Ckap2l	UTSW	2	129275579	missense	probably damaging	1.00
R1971:Ckap2l	UTSW	2	129285422	missense	possibly damaging	0.92
R4803:Ckap2l	UTSW	2	129269256	missense	probably damaging	1.00
R5214:Ckap2l	UTSW	2	129285469	missense	probably benign	0.02
R5264:Ckap2l	UTSW	2	129285379	missense	probably benign	0.01
R5297:Ckap2l	UTSW	2	129285370	missense	possibly damaging	0.56
R5535:Ckap2l	UTSW	2	129285842	missense	probably benign	0.00
R5606:Ckap2l	UTSW	2	129286039	missense	probably damaging	0.98
R6327:Ckap2l	UTSW	2	129285494	missense	probably damaging	1.00
R6489:Ckap2l	UTSW	2	129269114	missense	possibly damaging	0.85
R6726:Ckap2l	UTSW	2	129269194	missense	probably damaging	1.00
R7199:Ckap2l	UTSW	2	129285055	missense	probably benign	0.25
R7220:Ckap2l	UTSW	2	129275516	missense	probably damaging	1.00
R7329:Ckap2l	UTSW	2	129285364	missense	possibly damaging	0.56
R7374:Ckap2l	UTSW	2	129284963	missense	probably damaging	1.00
R7383:Ckap2l	UTSW	2	129269252	missense	possibly damaging	0.88
R7484:Ckap2l	UTSW	2	129272535	missense	possibly damaging	0.82
R7611:Ckap2l	UTSW	2	129285680	missense	possibly damaging	0.88
R7868:Ckap2l	UTSW	2	129285289	missense	probably damaging	1.00
R8338:Ckap2l	UTSW	2	129285019	missense	probably damaging	0.99
R8514:Ckap2l	UTSW	2	129285868	missense	possibly damaging	0.61
R8790:Ckap2l	UTSW	2	129269252	missense	possibly damaging	0.88
R9043:Ckap2l	UTSW	2	129284972	missense	probably damaging	0.99
R9215:Ckap2l	UTSW	2	129281906	missense	possibly damaging	0.74
R9496:Ckap2l	UTSW	2	129270675	missense	probably benign	0.37
R9526:Ckap2l	UTSW	2	129269241	nonsense	probably null
RF037:Ckap2l	UTSW	2	129270649	small deletion	probably benign
Z1176:Ckap2l	UTSW	2	129285362	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGTAGAATCTGCAACTGTAGGGC -3'
(R):5'- TGTCAAGAAACCCCAGGCAGTG -3'

Sequencing Primer
(F):5'- AGACTTCACTGCTTGAGTTCTG -3'
(R):5'- CAGGCAGTGCCCTGATATACAG -3'

Posted On

2013-07-30