Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Ckap2l'

47089

Institutional Source

Beutler Lab

Gene Symbol

Ckap2l

Ensembl Gene

ENSMUSG00000048327

Gene Name

cytoskeleton associated protein 2-like

Synonyms

Radmis, 2010016H04Rik, 2610318C08Rik

MMRRC Submission

038696-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129110130-129139132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129127411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 256 (R256W)

Ref Sequence

ENSEMBL: ENSMUSP00000056145 (fasta)

Gene Model

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

AlphaFold

Q7TS74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052708
AA Change: R256W

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: R256W

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

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,216 (GRCm39)	S415P	probably benign	Het
Adam19	C	T	11: 46,013,957 (GRCm39)	P316S	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adcy10	C	T	1: 165,337,959 (GRCm39)	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,707,269 (GRCm39)	Y1379C	probably damaging	Het
Akap9	T	C	5: 4,020,685 (GRCm39)	L1132P	probably damaging	Het
Aoah	A	G	13: 21,189,243 (GRCm39)	T489A	probably benign	Het
Apc2	T	C	10: 80,150,958 (GRCm39)	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,005,616 (GRCm39)	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,374,629 (GRCm39)		noncoding transcript	Het
Cacna1h	A	T	17: 25,607,641 (GRCm39)	V892E	probably damaging	Het
Car4	G	A	11: 84,854,268 (GRCm39)	V72I	probably benign	Het
Cfap91	C	G	16: 38,155,997 (GRCm39)	M75I	probably damaging	Het
Chst3	A	G	10: 60,022,049 (GRCm39)	L266P	probably damaging	Het
Cntn4	A	T	6: 106,595,296 (GRCm39)	D471V	probably damaging	Het
Cntrob	G	A	11: 69,213,694 (GRCm39)	S32F	probably damaging	Het
Cpne7	T	A	8: 123,852,994 (GRCm39)	N200K	possibly damaging	Het
Creb3l3	C	A	10: 80,922,416 (GRCm39)	M271I	probably benign	Het
Csmd1	T	A	8: 17,077,339 (GRCm39)	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 133,896,701 (GRCm39)	T563I	probably damaging	Het
Dmac1	T	G	4: 75,196,413 (GRCm39)	N26H	unknown	Het
Dop1b	T	C	16: 93,549,750 (GRCm39)	F230L	probably benign	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Fabp12	T	C	3: 10,315,203 (GRCm39)	D48G	probably benign	Het
Fbn1	G	A	2: 125,143,669 (GRCm39)	T2820M	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fcho2	A	T	13: 98,901,023 (GRCm39)	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,704,497 (GRCm39)	S470P	probably benign	Het
Gm17541	T	G	12: 4,739,730 (GRCm39)		probably benign	Het
Gm4353	A	T	7: 115,682,706 (GRCm39)	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,220,290 (GRCm39)	I69N	probably damaging	Het
Insrr	G	T	3: 87,717,991 (GRCm39)	A871S	probably benign	Het
Irs2	C	T	8: 11,056,396 (GRCm39)	V679M	probably damaging	Het
Itpr3	T	A	17: 27,326,263 (GRCm39)	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,361,784 (GRCm39)	M1074V	possibly damaging	Het
Kif1a	G	A	1: 92,983,967 (GRCm39)	R602W	probably damaging	Het
Kif21b	A	T	1: 136,090,837 (GRCm39)	D1215V	probably benign	Het
Mapk13	G	A	17: 28,995,327 (GRCm39)	V183M	probably damaging	Het
Mbp	C	T	18: 82,593,322 (GRCm39)	S100F	probably damaging	Het
Mcm6	A	G	1: 128,283,373 (GRCm39)	I44T	probably benign	Het
Ncor1	T	A	11: 62,264,148 (GRCm39)	D418V	possibly damaging	Het
Nid2	T	A	14: 19,839,736 (GRCm39)		probably null	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Or10a5	A	T	7: 106,635,439 (GRCm39)	T26S	probably benign	Het
Or10ak14	C	A	4: 118,611,027 (GRCm39)	C238F	probably benign	Het
Or12e9	A	T	2: 87,201,896 (GRCm39)	R7W	probably damaging	Het
Or13e8	A	C	4: 43,697,079 (GRCm39)	C31W	probably damaging	Het
Or1j1	A	T	2: 36,702,492 (GRCm39)	L204*	probably null	Het
Or2ag1	A	T	7: 106,313,810 (GRCm39)	M26K	probably benign	Het
Or2ag18	G	A	7: 106,405,018 (GRCm39)	S217F	probably damaging	Het
Or4a68	T	C	2: 89,270,060 (GRCm39)	T188A	probably benign	Het
Or4e1	T	A	14: 52,701,383 (GRCm39)	M1L	possibly damaging	Het
Or5d14	A	T	2: 87,880,815 (GRCm39)	I51N	probably damaging	Het
Or5m12	A	G	2: 85,735,348 (GRCm39)	F17L	probably damaging	Het
Or7g35	T	A	9: 19,495,914 (GRCm39)	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,622,978 (GRCm39)	C38S	probably damaging	Het
Pdia4	A	T	6: 47,777,936 (GRCm39)	V352E	probably damaging	Het
Pik3c2a	C	A	7: 115,953,290 (GRCm39)	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,239,846 (GRCm39)	A184E	possibly damaging	Het
Rsph3a	T	A	17: 8,197,952 (GRCm39)	L442*	probably null	Het
Scg2	G	C	1: 79,413,320 (GRCm39)	L468V	probably damaging	Het
Sdk1	A	T	5: 141,923,473 (GRCm39)	I365L	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Skic3	A	C	13: 76,295,925 (GRCm39)	M1063L	probably benign	Het
Slc22a22	T	A	15: 57,113,046 (GRCm39)	T398S	probably benign	Het
Stk11	C	A	10: 79,962,119 (GRCm39)	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,557 (GRCm39)	D222N	probably benign	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Tmem214	G	T	5: 31,029,876 (GRCm39)	R251L	probably damaging	Het
Tmem253	T	A	14: 52,256,036 (GRCm39)	I105N	probably damaging	Het
Toe1	A	G	4: 116,664,682 (GRCm39)	V12A	probably benign	Het
Top1	C	A	2: 160,556,079 (GRCm39)	H513N	probably damaging	Het
Tph1	G	T	7: 46,299,412 (GRCm39)	Y376*	probably null	Het
Trim45	T	A	3: 100,830,535 (GRCm39)	L103Q	probably damaging	Het
Ttn	T	A	2: 76,774,518 (GRCm39)		probably null	Het
Twnk	T	C	19: 44,996,185 (GRCm39)	V206A	probably damaging	Het
Ube2z	A	G	11: 95,941,114 (GRCm39)	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,951,049 (GRCm39)	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,272,581 (GRCm39)	T15S	probably benign	Het
Wdr59	C	T	8: 112,185,579 (GRCm39)	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,036,151 (GRCm39)	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,939,764 (GRCm39)	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,259,236 (GRCm39)	L461P	probably damaging	Het
Zcchc2	T	G	1: 105,943,821 (GRCm39)	F462C	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
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
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'- TTTCTGTTCAGTAGCAGGGCATGAC -3'
(R):5'- AACCTGTGGATGGCTTTCCAGATG -3'

Sequencing Primer
(F):5'- CAGTAGCAGGGCATGACTCTATC -3'
(R):5'- CTGAGAAGCCAGATCCTGAGTTAC -3'

Posted On

2013-06-12