Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Ckap2l'

206549

Institutional Source

Beutler Lab

Gene Symbol

Ckap2l

Ensembl Gene

ENSMUSG00000048327

Gene Name

cytoskeleton associated protein 2-like

Synonyms

Radmis, 2010016H04Rik, 2610318C08Rik

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

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

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129110130-129139132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129117499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 559 (F559L)

Ref Sequence

ENSEMBL: ENSMUSP00000056145 (fasta)

Gene Model

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

AlphaFold

Q7TS74

Predicted Effect

probably damaging
Transcript: ENSMUST00000052708
AA Change: F559L

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

SMART Domains

Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: F559L

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

0.2462

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,111,312 (GRCm39)	V868I	probably benign	Het
Ahnak	G	T	19: 8,982,269 (GRCm39)	M1184I	probably damaging	Het
Akap11	T	C	14: 78,748,928 (GRCm39)	E1153G	probably damaging	Het
Amy1	T	C	3: 113,356,376 (GRCm39)	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427 (GRCm39)	L129P	probably damaging	Het
Aox1	A	T	1: 58,351,518 (GRCm39)	T702S	probably benign	Het
Apobec1	G	T	6: 122,555,845 (GRCm39)	T204K	possibly damaging	Het
Arhgef19	A	G	4: 140,976,457 (GRCm39)	R433G	probably benign	Het
Atf6b	T	A	17: 34,867,618 (GRCm39)	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,694,826 (GRCm39)		probably null	Het
Camsap2	T	C	1: 136,201,521 (GRCm39)	T662A	possibly damaging	Het
Cbs	G	A	17: 31,843,245 (GRCm39)	H229Y	probably damaging	Het
Cct8	G	A	16: 87,287,442 (GRCm39)	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,293,993 (GRCm39)	A250T	probably damaging	Het
Chrd	A	G	16: 20,560,097 (GRCm39)		probably benign	Het
Cltrn	A	G	X: 162,901,230 (GRCm39)	D184G	possibly damaging	Het
D630003M21Rik	T	C	2: 158,059,477 (GRCm39)	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,447,539 (GRCm39)	N557S	probably benign	Het
Dct	T	G	14: 118,273,935 (GRCm39)	N324T	probably benign	Het
Dip2a	A	T	10: 76,114,336 (GRCm39)	L999*	probably null	Het
Dock10	T	A	1: 80,520,814 (GRCm39)		probably null	Het
Dync2li1	A	T	17: 84,957,225 (GRCm39)	D330V	probably damaging	Het
Eif4g3	T	A	4: 137,907,802 (GRCm39)	D1267E	probably benign	Het
Enc1	A	G	13: 97,382,486 (GRCm39)	E332G	possibly damaging	Het
Fat2	C	T	11: 55,147,606 (GRCm39)	V3879I	probably benign	Het
Fh1	A	T	1: 175,444,114 (GRCm39)	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,255,328 (GRCm39)	L227P	probably damaging	Het
Fpr1	T	A	17: 18,097,315 (GRCm39)	M225L	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Grm7	A	G	6: 111,184,730 (GRCm39)	T354A	probably benign	Het
Ift27	T	A	15: 78,057,978 (GRCm39)	I9F	possibly damaging	Het
Igf1r	A	G	7: 67,844,729 (GRCm39)	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,243,028 (GRCm39)	L738Q	probably damaging	Het
Itgam	A	T	7: 127,663,904 (GRCm39)	T44S	probably benign	Het
Ivd	T	A	2: 118,692,515 (GRCm39)	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780 (GRCm39)	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,995,524 (GRCm39)	V251A	probably benign	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,715,923 (GRCm39)		probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Myocd	C	A	11: 65,069,496 (GRCm39)	M909I	probably benign	Het
Ndufv3	G	A	17: 31,750,219 (GRCm39)	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,257,177 (GRCm39)	V319M	probably damaging	Het
Or13p4	T	A	4: 118,547,389 (GRCm39)	N87Y	probably damaging	Het
Or1af1	T	C	2: 37,110,344 (GRCm39)	V281A	probably damaging	Het
Or1p1c	C	T	11: 74,161,043 (GRCm39)	A276V	probably damaging	Het
Or2q1	G	T	6: 42,795,202 (GRCm39)	A266S	possibly damaging	Het
Or2t1	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Or4c111	A	G	2: 88,843,722 (GRCm39)	S229P	probably benign	Het
Or5b101	C	A	19: 13,005,181 (GRCm39)	V171L	probably benign	Het
Parp4	T	C	14: 56,827,329 (GRCm39)		probably benign	Het
Pcdhb9	A	G	18: 37,535,871 (GRCm39)	T622A	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,853,658 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,882,617 (GRCm39)	Y708C	probably damaging	Het
Pnp	T	C	14: 51,187,786 (GRCm39)	F107L	probably damaging	Het
Postn	T	A	3: 54,292,708 (GRCm39)		probably null	Het
Prcp	A	T	7: 92,577,883 (GRCm39)	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,454,177 (GRCm39)	I52F	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,241 (GRCm39)	I248N	probably damaging	Het
Ror2	T	G	13: 53,264,341 (GRCm39)	E917A	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sema6d	A	G	2: 124,501,476 (GRCm39)		probably null	Het
Shisal1	T	C	15: 84,290,669 (GRCm39)	T213A	probably benign	Het
Slc4a2	C	T	5: 24,632,618 (GRCm39)	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,888,901 (GRCm39)		noncoding transcript	Het
Slf2	A	T	19: 44,923,687 (GRCm39)	H167L	possibly damaging	Het
Snx9	G	T	17: 5,970,946 (GRCm39)	G429V	probably damaging	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Spta1	T	A	1: 174,074,115 (GRCm39)	D2351E	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,788,005 (GRCm39)	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Tnfsf9	A	G	17: 57,412,738 (GRCm39)	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,552,595 (GRCm39)	L163P	possibly damaging	Het
Trim52	T	A	14: 106,344,401 (GRCm39)	C20S	probably damaging	Het
Ucp1	C	T	8: 84,020,661 (GRCm39)	T157I	probably damaging	Het
Uspl1	T	A	5: 149,151,224 (GRCm39)	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,962,580 (GRCm39)	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,413,405 (GRCm39)	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 86,687,080 (GRCm39)	I820M	probably damaging	Het
Wscd1	C	A	11: 71,651,044 (GRCm39)	P124T	probably benign	Het
Zfp780b	A	T	7: 27,662,525 (GRCm39)	C677S	possibly 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
R1971:Ckap2l	UTSW	2	129,127,342 (GRCm39)	missense	possibly damaging	0.92
R4803:Ckap2l	UTSW	2	129,111,176 (GRCm39)	missense	probably damaging	1.00
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'- TGTTGCGGTACCCTACCTATG -3'
(R):5'- TGTTTGTGTCGTTCATCCCATAAAG -3'

Sequencing Primer
(F):5'- TGCGGTACCCTACCTATGAATGG -3'
(R):5'- ATGGTGGCTCACAACCATCTG -3'

Posted On

2014-06-23