Mutagenetix > Incidental Mutation

Incidental Mutation 'R6489:Ckap2l'

522610

Institutional Source

Beutler Lab

Gene Symbol

Ckap2l

Ensembl Gene

ENSMUSG00000048327

Gene Name

cytoskeleton associated protein 2-like

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6489 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129268210-129297212 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129269114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 721 (D721G)

Ref Sequence

ENSEMBL: ENSMUSP00000056145 (fasta)

Gene Model

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

AlphaFold

Q7TS74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052708
AA Change: D721G

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: D721G

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: 99.9%
3x: 99.6%
10x: 97.3%
20x: 90.6%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 70,010,319	T650A	probably benign	Het
Alkbh7	T	A	17: 56,998,979	S127T	probably damaging	Het
Ank3	G	A	10: 69,991,629	A565T	probably benign	Het
App	G	T	16: 85,056,520	D223E	unknown	Het
Arhgef2	C	A	3: 88,643,014	S675R	probably damaging	Het
Atg14	T	C	14: 47,549,023	D258G	probably damaging	Het
Cog8	T	C	8: 107,050,301	T481A	probably benign	Het
Colec10	C	A	15: 54,462,213		probably null	Het
Dhx9	T	C	1: 153,456,643		probably benign	Het
Dock1	T	C	7: 134,990,541	M935T	probably damaging	Het
Dsg4	T	A	18: 20,471,363	N962K	possibly damaging	Het
Dym	T	C	18: 75,080,226	V173A	probably benign	Het
Exoc3l4	A	G	12: 111,428,697	Y583C	probably damaging	Het
Fam26e	A	T	10: 34,092,506	W184R	probably damaging	Het
Flnb	G	A	14: 7,867,551	V103M	probably damaging	Het
Fzd1	T	A	5: 4,757,336	Q82L	probably benign	Het
Gabrr1	A	G	4: 33,162,855	I474V	probably benign	Het
Galnt11	G	T	5: 25,264,966	W521L	probably damaging	Het
Glb1l3	A	G	9: 26,826,831	V420A	probably benign	Het
Gm5678	A	T	16: 93,630,398		probably null	Het
H1fnt	A	T	15: 98,257,007	L87*	probably null	Het
Homer2	T	C	7: 81,624,278	T57A	probably benign	Het
Ihh	T	A	1: 74,946,511	T272S	probably damaging	Het
Il27ra	T	C	8: 84,031,550	M524V	probably benign	Het
Lman1l	A	T	9: 57,613,726		probably null	Het
Mdp1	C	A	14: 55,660,391		probably benign	Het
Med12l	A	G	3: 59,257,407	K1436R	probably damaging	Het
Megf10	C	T	18: 57,291,807	S1006F	probably benign	Het
Miga1	A	T	3: 152,279,008	I426N	probably damaging	Het
Mtmr6	C	T	14: 60,300,514	T654I	possibly damaging	Het
Nbeal1	A	G	1: 60,330,942	S2673G	possibly damaging	Het
Nup93	T	A	8: 94,302,088	H193Q	probably benign	Het
Olfr1303	A	C	2: 111,814,060	L222W	probably damaging	Het
Olfr384	T	A	11: 73,603,439	N286K	probably damaging	Het
Olfr629	T	C	7: 103,740,668	N191D	probably benign	Het
Pdcd11	C	T	19: 47,109,752	R826C	probably damaging	Het
Pde4dip	G	A	3: 97,755,591	R521*	probably null	Het
Phf2	T	C	13: 48,826,182	S158G	unknown	Het
Pla2g15	A	G	8: 106,163,194	E366G	probably benign	Het
Plekhm2	A	T	4: 141,632,033	H494Q	probably damaging	Het
Prpsap2	A	T	11: 61,749,064	M87K	probably damaging	Het
Rbm19	T	G	5: 120,120,130	S137A	probably benign	Het
Ryr2	T	A	13: 11,834,007	I363L	probably benign	Het
Samd9l	T	C	6: 3,376,896	T122A	probably benign	Het
Scn4a	G	C	11: 106,349,180	D70E	probably benign	Het
Slc12a3	T	A	8: 94,335,004	V293D	possibly damaging	Het
Slc6a7	T	C	18: 61,007,543	Y139C	probably damaging	Het
Slco2b1	A	T	7: 99,690,555	C9*	probably null	Het
Slitrk1	A	T	14: 108,911,303	S659T	possibly damaging	Het
Son	T	G	16: 91,655,156	S264A	possibly damaging	Het
Svep1	C	A	4: 58,100,066	G1326V	probably damaging	Het
Tcf12	A	G	9: 72,015,636		probably null	Het
Ttn	A	G	2: 76,814,718	V11185A	probably damaging	Het
Ubap2	T	C	4: 41,203,574		probably null	Het
Utp15	G	T	13: 98,250,609	F434L	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vsnl1	T	G	12: 11,332,218		probably benign	Het
Yod1	G	A	1: 130,717,538	G19S	probably damaging	Het
Zbtb34	A	C	2: 33,411,546	S328A	probably damaging	Het
Zdbf2	T	C	1: 63,307,478	I1672T	possibly damaging	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
R0715:Ckap2l	UTSW	2	129285716	missense	probably benign	0.02
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
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'- AGAGTCTACCACCTGCATGG -3'
(R):5'- AAGGTTTTGAACACCTCCTCC -3'

Sequencing Primer
(F):5'- CCTGCATGGTGAGGTCTCAG -3'
(R):5'- CTTCGGTCTCTTTCAGAATATGCGG -3'

Posted On

2018-06-06