Mutagenetix > Incidental Mutation

Incidental Mutation 'R7374:Ckap2l'

572254

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 #

R7374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129268210-129297212 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129284963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 432 (T432A)

Ref Sequence

ENSEMBL: ENSMUSP00000056145 (fasta)

Gene Model

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

AlphaFold

Q7TS74

Predicted Effect

probably damaging
Transcript: ENSMUST00000052708
AA Change: T432A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: T432A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,247,247	W2792R	unknown	Het
Abca13	C	T	11: 9,292,136	T1333I	possibly damaging	Het
Abcd4	A	T	12: 84,606,243	L395*	probably null	Het
Cdh23	G	A	10: 60,317,900	R2304W	probably damaging	Het
Cyp2c68	T	C	19: 39,739,204		probably null	Het
Ddx51	C	A	5: 110,657,132	T580K	probably damaging	Het
Fbxo44	T	A	4: 148,156,637	D112V	probably benign	Het
Ffar2	T	C	7: 30,820,040	N25S	probably damaging	Het
Gas6	A	T	8: 13,474,802	V330D	probably damaging	Het
Gfpt1	A	G	6: 87,050,977	T22A	probably benign	Het
Gm3371	A	G	14: 44,403,783	V108A		Het
Gm8257	T	C	14: 44,650,283	E215G	probably benign	Het
Gria1	T	A	11: 57,189,808	S206T	probably benign	Het
Gria2	T	C	3: 80,741,076	T118A	probably benign	Het
Hfe	T	G	13: 23,706,047	T248P	probably damaging	Het
Kdm5d	T	C	Y: 941,491	W1231R	probably benign	Het
Ltbp2	C	T	12: 84,830,175	D419N	probably damaging	Het
Mei1	G	A	15: 82,095,908	A232T		Het
Mgam	G	A	6: 40,757,439	E1473K	possibly damaging	Het
Mtbp	A	C	15: 55,562,959	E99A	possibly damaging	Het
Muc5b	A	T	7: 141,863,126	T3270S	probably benign	Het
Myl2	A	G	5: 122,101,663	Y28C		Het
Nrxn1	A	G	17: 90,588,669		probably null	Het
Ntn4	A	G	10: 93,682,572	H247R	probably benign	Het
Numa1	T	C	7: 102,009,128	V1568A	probably benign	Het
Nyap1	C	T	5: 137,735,529	G414D	probably damaging	Het
Olfr1061	C	A	2: 86,413,852	A67S	probably benign	Het
Olfr493	A	G	7: 108,346,888	F31S	probably damaging	Het
Pdgfrb	G	A	18: 61,071,708	V547I	possibly damaging	Het
Pom121l12	A	T	11: 14,599,962	M223L	probably benign	Het
Prps1l1	T	C	12: 34,985,425	S180P	possibly damaging	Het
Ptprf	A	G	4: 118,257,492	S189P	probably damaging	Het
Radil	G	A	5: 142,485,480	R1014W	probably damaging	Het
Rfx5	C	T	3: 94,958,742	P451S	unknown	Het
Rhbdl2	G	C	4: 123,817,865	V132L	probably benign	Het
Slc15a2	G	T	16: 36,751,845	T719K	probably benign	Het
Slc9a9	A	G	9: 95,055,489	T465A	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Sv2a	A	T	3: 96,188,209	Y306F	probably benign	Het
Sv2c	A	T	13: 95,989,136	H364Q	probably damaging	Het
Tmem181a	T	A	17: 6,304,258	L401Q	possibly damaging	Het
Trav9d-4	A	G	14: 52,983,843	Y98C	probably damaging	Het
Trim33	T	A	3: 103,310,323	C195S	probably damaging	Het
Uroc1	T	C	6: 90,338,833	Y191H	probably damaging	Het
Usp9y	T	C	Y: 1,381,305	I839V	probably benign	Het
Vmn1r52	A	T	6: 90,179,136	I141F	probably benign	Het
Vmn1r59	T	C	7: 5,454,161	H200R	probably damaging	Het
Vmn2r68	A	T	7: 85,232,399	M491K	possibly damaging	Het
Vmn2r74	T	C	7: 85,957,422	I239V	probably benign	Het
Wrn	A	C	8: 33,268,911	C1006W	probably 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
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
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'- ATCTGTGACCCAGGTTGAGAG -3'
(R):5'- CAGAGGCCTAATTTGACAGCTAG -3'

Sequencing Primer
(F):5'- TTGAGAGTTCTAGAGCCGACACTC -3'
(R):5'- GAAACTTTAATTCAGTCATCCCAAGC -3'

Posted On

2019-09-13