Mutagenetix > Incidental Mutations

Incidental Mutation 'R5717:Ckap2'

451216

Institutional Source

Beutler Lab

Gene Symbol

Ckap2

Ensembl Gene

ENSMUSG00000037725

Gene Name

cytoskeleton associated protein 2

Synonyms

LB1

MMRRC Submission

043337-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R5717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22168160-22185819 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22175047 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 467 (E467G)

Ref Sequence

ENSEMBL: ENSMUSP00000039518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046916]

Predicted Effect

probably damaging
Transcript: ENSMUST00000046916
AA Change: E467G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039518
Gene: ENSMUSG00000037725
AA Change: E467G

Domain	Start	End	E-Value	Type
low complexity region	221	234	N/A	INTRINSIC
Pfam:CKAP2_C	315	651	3.9e-168	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211629

Meta Mutation Damage Score

0.204

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	T	19: 42,053,045	H205L	probably benign	Het
Acss2	T	C	2: 155,561,153	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,492,334	V77A	probably benign	Het
Adnp2	A	G	18: 80,128,264	S977P	probably benign	Het
Ankrd11	T	C	8: 122,892,638	K1492E	possibly damaging	Het
B4galt5	G	A	2: 167,306,629	R190C	probably damaging	Het
Bbs1	A	G	19: 4,897,326	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,553,521		probably null	Het
Cry1	A	T	10: 85,146,416	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,885,798	M272I	probably benign	Het
Dicer1	T	A	12: 104,705,128	Y961F	probably damaging	Het
Dirc2	A	G	16: 35,719,429	F341L	probably benign	Het
Epha2	A	T	4: 141,322,071	M689L	probably benign	Het
Foxc1	C	T	13: 31,807,488	A94V	probably benign	Het
Fras1	T	C	5: 96,781,737	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,873,368		probably benign	Het
Gm5218	A	G	15: 81,499,277		noncoding transcript	Het
Gm7735	T	C	16: 89,169,542	L18P	unknown	Het
Hr	C	T	14: 70,566,176	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,691	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,336,428		probably benign	Het
Igkv8-27	T	A	6: 70,171,934	T59S	probably benign	Het
Itga11	A	G	9: 62,752,249	T428A	probably benign	Het
Klk1b16	A	G	7: 44,139,489	I49V	probably benign	Het
Matn2	G	T	15: 34,399,091	E375*	probably null	Het
Msgn1	T	C	12: 11,208,518	Y144C	probably damaging	Het
Myh1	A	G	11: 67,208,956	N564S	probably benign	Het
Mypn	A	G	10: 63,127,776	V972A	probably damaging	Het
Olfr1209	T	C	2: 88,910,022	I124V	possibly damaging	Het
Olfr235	A	G	19: 12,269,156	K309E	probably benign	Het
Olfr284	G	A	15: 98,340,365	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,687,894	S81P	probably damaging	Het
Ptgis	C	T	2: 167,208,364		probably benign	Het
Ptprr	A	G	10: 116,048,113	N25S	probably benign	Het
Rnf123	G	A	9: 108,067,424	T456I	probably damaging	Het
Rpl6l	T	C	10: 111,126,023		noncoding transcript	Het
Rps25	A	G	9: 44,408,750	Y23C	probably benign	Het
Sec24a	A	G	11: 51,707,210	V879A	probably benign	Het
Sema6a	G	A	18: 47,249,263	A739V	probably benign	Het
Senp6	A	T	9: 80,092,312	I4F	probably damaging	Het
Stoml3	A	T	3: 53,505,516	Q197L	probably damaging	Het
Ttn	T	A	2: 76,747,747	K24267N	probably damaging	Het
Vmn1r43	T	C	6: 89,869,923	S194G	probably damaging	Het
Vmn2r17	C	T	5: 109,427,274	T149I	possibly damaging	Het
Wdr72	T	A	9: 74,148,205	Y239N	probably damaging	Het
Zfp423	A	T	8: 87,686,559		probably null	Het
Zfp759	T	A	13: 67,138,708	C114S	probably damaging	Het

Other mutations in Ckap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Ckap2	APN	8	22169758	missense	probably damaging	1.00
IGL01519:Ckap2	APN	8	22168898	missense	probably benign	0.00
R0530:Ckap2	UTSW	8	22175972	splice site	probably benign
R1638:Ckap2	UTSW	8	22175796	missense	possibly damaging	0.84
R1965:Ckap2	UTSW	8	22175787	missense	possibly damaging	0.95
R2047:Ckap2	UTSW	8	22168747	missense	probably benign	0.03
R3023:Ckap2	UTSW	8	22175861	missense	possibly damaging	0.95
R3843:Ckap2	UTSW	8	22175758	missense	probably damaging	0.98
R4587:Ckap2	UTSW	8	22176976	missense	probably benign
R4754:Ckap2	UTSW	8	22168895	missense	possibly damaging	0.93
R4847:Ckap2	UTSW	8	22175068	missense	probably damaging	0.98
R5354:Ckap2	UTSW	8	22177565	missense	probably damaging	0.96
R5423:Ckap2	UTSW	8	22177196	missense	probably benign	0.33
R6518:Ckap2	UTSW	8	22173303	missense	probably benign	0.41
R7088:Ckap2	UTSW	8	22169866	missense	possibly damaging	0.59
R7466:Ckap2	UTSW	8	22177386	missense	probably benign	0.02
X0058:Ckap2	UTSW	8	22176798	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCCTTGCAGCCTTCACTG -3'
(R):5'- GCTGAGTCATGTTTCCAGATCC -3'

Sequencing Primer
(F):5'- GCAGCCTTCACTGTTTCTGCTG -3'
(R):5'- ATGTTTCCAGATCCTTCTGTCAG -3'

Posted On

2017-01-03