Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:Ckap2'

520891

Institutional Source

Beutler Lab

Gene Symbol

Ckap2

Ensembl Gene

ENSMUSG00000037725

Gene Name

cytoskeleton associated protein 2

Synonyms

LB1

MMRRC Submission

044645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22658176-22675835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22663319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 492 (I492K)

Ref Sequence

ENSEMBL: ENSMUSP00000039518 (fasta)

Gene Model

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

AlphaFold

Q3V1H1

Predicted Effect

probably benign
Transcript: ENSMUST00000046916
AA Change: I492K

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039518
Gene: ENSMUSG00000037725
AA Change: I492K

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,123,608 (GRCm39)	D88G	probably damaging	Het
Abcc12	A	G	8: 87,235,718 (GRCm39)			Het
Angptl6	T	C	9: 20,786,656 (GRCm39)	H330R	probably damaging	Het
Asxl3	T	A	18: 22,649,397 (GRCm39)	V462E	probably damaging	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
C1ra	T	A	6: 124,498,534 (GRCm39)		probably null	Het
C2	T	A	17: 35,083,094 (GRCm39)	I426F	probably damaging	Het
C4b	A	T	17: 34,953,179 (GRCm39)	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,898,283 (GRCm39)	M134K	probably benign	Het
Cenpn	A	G	8: 117,663,904 (GRCm39)	D145G	possibly damaging	Het
Cog2	G	A	8: 125,253,842 (GRCm39)	W67*	probably null	Het
Col7a1	T	C	9: 108,784,595 (GRCm39)	F172L	unknown	Het
Dcaf1	T	C	9: 106,712,788 (GRCm39)	I112T	probably damaging	Het
Ddx4	T	C	13: 112,741,081 (GRCm39)	I518V	probably benign	Het
Dnah10	T	C	5: 124,835,419 (GRCm39)	L908P	probably damaging	Het
Dsg3	T	C	18: 20,666,479 (GRCm39)	Y563H	probably benign	Het
Gm16686	A	C	4: 88,673,725 (GRCm39)		probably benign	Het
Gpr139	A	T	7: 118,743,734 (GRCm39)	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Ice1	A	T	13: 70,754,428 (GRCm39)	F553I	possibly damaging	Het
Igkv6-29	T	A	6: 70,115,497 (GRCm39)	Q99L	probably damaging	Het
Lipt1	A	G	1: 37,914,856 (GRCm39)	N304S	probably benign	Het
Lmo1	A	C	7: 108,742,783 (GRCm39)	L39R	probably damaging	Het
Mcc	T	A	18: 44,794,878 (GRCm39)		probably benign	Het
Mindy3	T	C	2: 12,386,940 (GRCm39)	T74A	probably damaging	Het
Obi1	A	T	14: 104,716,501 (GRCm39)	L624H	probably damaging	Het
Or11a4	G	T	17: 37,536,159 (GRCm39)	A48S	probably benign	Het
Or13j1	A	G	4: 43,706,334 (GRCm39)	V78A	probably benign	Het
Or4e5	T	C	14: 52,728,077 (GRCm39)	I115V	probably damaging	Het
Ormdl1	T	C	1: 53,348,116 (GRCm39)	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,127,475 (GRCm39)	*1064K	probably null	Het
Pias1	A	G	9: 62,859,142 (GRCm39)	L113P	probably damaging	Het
Piezo2	A	T	18: 63,239,342 (GRCm39)	I514N	probably damaging	Het
Prkd1	T	C	12: 50,472,278 (GRCm39)	T212A	probably benign	Het
Rsph10b	A	G	5: 143,900,691 (GRCm39)	Y151C	probably damaging	Het
Samhd1	G	A	2: 156,956,217 (GRCm39)	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,922,519 (GRCm39)	T291A	probably damaging	Het
Smim24	A	G	10: 81,229,695 (GRCm39)	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,572,291 (GRCm39)		probably benign	Het
Spata31f1e	A	G	4: 42,791,750 (GRCm39)	I794T	probably benign	Het
Speer3	T	G	5: 13,845,462 (GRCm39)	I165S	possibly damaging	Het
Timm23	A	G	14: 31,923,594 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,467,427 (GRCm39)	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,632,608 (GRCm39)	C85*	probably null	Het
Try5	A	G	6: 41,291,613 (GRCm39)	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,270,436 (GRCm39)	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,265,281 (GRCm39)	D67E	probably benign	Het
Wars2	A	T	3: 99,124,116 (GRCm39)	M326L	probably benign	Het
Wdr70	A	T	15: 8,108,821 (GRCm39)	S108R	unknown	Het
Zfp677	A	G	17: 21,618,392 (GRCm39)	H483R	probably damaging	Het

Other mutations in Ckap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Ckap2	APN	8	22,659,774 (GRCm39)	missense	probably damaging	1.00
IGL01519:Ckap2	APN	8	22,658,914 (GRCm39)	missense	probably benign	0.00
R0530:Ckap2	UTSW	8	22,665,988 (GRCm39)	splice site	probably benign
R1638:Ckap2	UTSW	8	22,665,812 (GRCm39)	missense	possibly damaging	0.84
R1965:Ckap2	UTSW	8	22,665,803 (GRCm39)	missense	possibly damaging	0.95
R2047:Ckap2	UTSW	8	22,658,763 (GRCm39)	missense	probably benign	0.03
R3023:Ckap2	UTSW	8	22,665,877 (GRCm39)	missense	possibly damaging	0.95
R3843:Ckap2	UTSW	8	22,665,774 (GRCm39)	missense	probably damaging	0.98
R4587:Ckap2	UTSW	8	22,666,992 (GRCm39)	missense	probably benign
R4754:Ckap2	UTSW	8	22,658,911 (GRCm39)	missense	possibly damaging	0.93
R4847:Ckap2	UTSW	8	22,665,084 (GRCm39)	missense	probably damaging	0.98
R5354:Ckap2	UTSW	8	22,667,581 (GRCm39)	missense	probably damaging	0.96
R5423:Ckap2	UTSW	8	22,667,212 (GRCm39)	missense	probably benign	0.33
R5717:Ckap2	UTSW	8	22,665,063 (GRCm39)	missense	probably damaging	0.98
R7088:Ckap2	UTSW	8	22,659,882 (GRCm39)	missense	possibly damaging	0.59
R7466:Ckap2	UTSW	8	22,667,402 (GRCm39)	missense	probably benign	0.02
R7943:Ckap2	UTSW	8	22,665,090 (GRCm39)	missense	probably damaging	0.97
R8558:Ckap2	UTSW	8	22,658,811 (GRCm39)	missense	possibly damaging	0.92
R9224:Ckap2	UTSW	8	22,659,954 (GRCm39)	missense	possibly damaging	0.93
R9366:Ckap2	UTSW	8	22,658,988 (GRCm39)	missense	possibly damaging	0.71
R9454:Ckap2	UTSW	8	22,665,899 (GRCm39)	nonsense	probably null
X0058:Ckap2	UTSW	8	22,666,814 (GRCm39)	missense	probably benign
Z1176:Ckap2	UTSW	8	22,659,810 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATTGCATTTCAGAAGCAGGTA -3'
(R):5'- AAGAGCTTGTTAGATAATATGATCAGC -3'

Sequencing Primer
(F):5'- TTGCATTTCAGAAGCAGGTAAACAG -3'
(R):5'- TTGTTGTTGTTATTGAAATTCTGTCC -3'

Posted On

2018-06-06