Mutagenetix > Incidental Mutations

Incidental Mutation 'R6090:Clasp2'

486150

Institutional Source

Beutler Lab

Gene Symbol

Clasp2

Ensembl Gene

ENSMUSG00000033392

Gene Name

CLIP associating protein 2

Synonyms

1500004F14Rik, CLASP2gamma, CLASP2beta, CLASP2alpha, CLASP2, 8030404L10Rik

MMRRC Submission

044247-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6090 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113741473-113919682 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113852735 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 320 (V320L)

Ref Sequence

ENSEMBL: ENSMUSP00000149670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111838] [ENSMUST00000163895] [ENSMUST00000166734] [ENSMUST00000213663] [ENSMUST00000214522] [ENSMUST00000215022]

Predicted Effect

probably benign
Transcript: ENSMUST00000111838
AA Change: V320L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392
AA Change: V320L

Domain	Start	End	E-Value	Type
TOG	90	323	1.17e-8	SMART
low complexity region	382	395	N/A	INTRINSIC
low complexity region	459	472	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	562	572	N/A	INTRINSIC
low complexity region	614	634	N/A	INTRINSIC
TOG	640	877	2.03e-1	SMART
low complexity region	995	1009	N/A	INTRINSIC
TOG	1043	1274	1.49e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163895
AA Change: V320L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: V320L

Domain	Start	End	E-Value	Type
TOG	90	323	1.17e-8	SMART
low complexity region	382	395	N/A	INTRINSIC
low complexity region	459	472	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	583	593	N/A	INTRINSIC
low complexity region	635	655	N/A	INTRINSIC
TOG	661	898	2.03e-1	SMART
low complexity region	1016	1030	N/A	INTRINSIC
TOG	1064	1295	1.49e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166734
AA Change: V320L

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392
AA Change: V320L

Domain	Start	End	E-Value	Type
TOG	90	323	1.17e-8	SMART
low complexity region	382	395	N/A	INTRINSIC
low complexity region	459	472	N/A	INTRINSIC
low complexity region	473	484	N/A	INTRINSIC
low complexity region	562	572	N/A	INTRINSIC
low complexity region	614	634	N/A	INTRINSIC
TOG	640	878	7.51e-1	SMART
low complexity region	996	1010	N/A	INTRINSIC
TOG	1044	1275	1.49e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213663

Predicted Effect

probably benign
Transcript: ENSMUST00000214522
AA Change: V320L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214860

Predicted Effect

probably benign
Transcript: ENSMUST00000215022

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,648,013	A450V	probably benign	Het
Abca8a	T	C	11: 110,063,222		probably null	Het
Adgrl3	A	T	5: 81,512,326	N246I	probably damaging	Het
Arntl2	T	A	6: 146,829,696	S500T	possibly damaging	Het
Cdipt	A	T	7: 126,976,959	M29L	possibly damaging	Het
Chml	G	T	1: 175,687,058	Y432*	probably null	Het
Col12a1	G	A	9: 79,692,393	T826M	probably damaging	Het
Cpsf3	A	G	12: 21,295,193	I169V	probably damaging	Het
Dhx36	G	A	3: 62,496,820	T234M	probably damaging	Het
Dhx57	A	G	17: 80,263,946		probably null	Het
Dnah1	A	T	14: 31,269,425	I3132N	possibly damaging	Het
Fbxw20	G	T	9: 109,223,363	Q231K	probably benign	Het
Gfod1	G	T	13: 43,200,961	Y179*	probably null	Het
Glg1	T	A	8: 111,181,035	I510F	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,663,806		probably benign	Het
Gse1	C	A	8: 120,571,169		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Klrd1	T	C	6: 129,595,536	L97P	probably damaging	Het
Lgmn	A	T	12: 102,400,154	M240K	probably damaging	Het
Lrp1b	A	G	2: 41,185,868		probably null	Het
Notch2	A	T	3: 98,135,377	R1353*	probably null	Het
Olfr141	A	C	2: 86,806,357	V214G	possibly damaging	Het
Olfr715b	A	G	7: 107,106,249	V204A	possibly damaging	Het
Pcdhb14	G	A	18: 37,448,606	S255N	probably benign	Het
Pcgf2	C	T	11: 97,690,991	M25I	possibly damaging	Het
Poll	G	T	19: 45,555,997	D328E	probably benign	Het
Pomgnt2	A	T	9: 121,982,797	L306Q	probably damaging	Het
Proser1	A	T	3: 53,478,667	M657L	probably benign	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Rdh11	G	T	12: 79,189,064	P37T	probably benign	Het
Rsph10b	A	T	5: 143,977,128	I286L	probably benign	Het
Sept4	G	A	11: 87,589,517	R238K	possibly damaging	Het
Sptan1	C	T	2: 29,993,887	R580C	probably damaging	Het
Stard9	T	A	2: 120,693,654	W777R	probably damaging	Het
Timd2	T	C	11: 46,687,236	T23A	probably benign	Het
Tmc4	A	G	7: 3,671,053	Y376H	probably damaging	Het
Tmem143	A	G	7: 45,909,526	I297M	probably benign	Het
Togaram1	A	G	12: 64,967,801	T609A	probably benign	Het
Tyw3	T	C	3: 154,597,067	H10R	probably benign	Het
Unc13b	C	A	4: 43,239,306	H3456Q	probably damaging	Het
Zfp131	A	T	13: 119,775,996	H275Q	probably damaging	Het

Other mutations in Clasp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Clasp2	APN	9	113905992	splice site	probably benign
IGL00885:Clasp2	APN	9	113911416	missense	probably damaging	1.00
IGL01314:Clasp2	APN	9	113906127	missense	possibly damaging	0.89
IGL01344:Clasp2	APN	9	113813292	splice site	probably null
IGL01567:Clasp2	APN	9	113880096	missense	probably damaging	1.00
IGL02238:Clasp2	APN	9	113880020	missense	probably damaging	1.00
IGL02299:Clasp2	APN	9	113879989	missense	probably damaging	1.00
IGL02323:Clasp2	APN	9	113868726	splice site	probably benign
IGL02635:Clasp2	APN	9	113908842	missense	probably damaging	0.98
IGL02645:Clasp2	APN	9	113890061	missense	probably damaging	1.00
IGL02976:Clasp2	APN	9	113906136	missense	probably damaging	1.00
IGL03190:Clasp2	APN	9	113844140	nonsense	probably null
IGL03219:Clasp2	APN	9	113848477	splice site	probably benign
PIT4810001:Clasp2	UTSW	9	113906067	missense	probably damaging	1.00
R0067:Clasp2	UTSW	9	113860141	splice site	probably benign
R0067:Clasp2	UTSW	9	113860141	splice site	probably benign
R0421:Clasp2	UTSW	9	113854302	missense	probably benign	0.02
R0432:Clasp2	UTSW	9	113909419	missense	probably benign	0.00
R0458:Clasp2	UTSW	9	113906224	splice site	probably null
R0865:Clasp2	UTSW	9	113911500	missense	possibly damaging	0.57
R0972:Clasp2	UTSW	9	113847705	missense	possibly damaging	0.58
R1037:Clasp2	UTSW	9	113896634	splice site	probably benign
R1925:Clasp2	UTSW	9	113906197	missense	possibly damaging	0.88
R2015:Clasp2	UTSW	9	113911500	missense	possibly damaging	0.57
R2066:Clasp2	UTSW	9	113906157	missense	possibly damaging	0.86
R2330:Clasp2	UTSW	9	113876304	missense	probably damaging	1.00
R2568:Clasp2	UTSW	9	113878764	missense	probably benign
R3011:Clasp2	UTSW	9	113901513	missense	probably damaging	1.00
R3879:Clasp2	UTSW	9	113889961	missense	probably damaging	0.98
R3915:Clasp2	UTSW	9	113908737	missense	probably damaging	0.99
R3928:Clasp2	UTSW	9	113906105	missense	probably benign	0.28
R4323:Clasp2	UTSW	9	113889959	missense	possibly damaging	0.91
R4571:Clasp2	UTSW	9	113847721	missense	probably damaging	1.00
R4975:Clasp2	UTSW	9	113903916	missense	probably damaging	1.00
R5445:Clasp2	UTSW	9	113903946	missense	probably damaging	1.00
R5564:Clasp2	UTSW	9	113812768	critical splice donor site	probably null
R5697:Clasp2	UTSW	9	113860122	missense	probably benign	0.01
R5780:Clasp2	UTSW	9	113850152	missense	probably damaging	0.99
R5787:Clasp2	UTSW	9	113862242	missense	probably damaging	1.00
R6011:Clasp2	UTSW	9	113876247	missense	probably benign	0.07
R6026:Clasp2	UTSW	9	113911578	missense	probably benign	0.13
R6262:Clasp2	UTSW	9	113876352	critical splice donor site	probably null
R6427:Clasp2	UTSW	9	113892444	missense	probably damaging	1.00
R6464:Clasp2	UTSW	9	113773717	missense	probably damaging	1.00
R6586:Clasp2	UTSW	9	113813264	missense	probably damaging	1.00
R6628:Clasp2	UTSW	9	113896720	missense	probably damaging	1.00
R6745:Clasp2	UTSW	9	113875270	nonsense	probably null
R7032:Clasp2	UTSW	9	113854323	missense	probably benign	0.04
R7165:Clasp2	UTSW	9	113786399	splice site	probably null
R7221:Clasp2	UTSW	9	113852757	missense	probably damaging	0.99
R7336:Clasp2	UTSW	9	113876353	splice site	probably null
R7583:Clasp2	UTSW	9	113908687	missense	probably benign	0.02
R7774:Clasp2	UTSW	9	113848736	splice site	probably null
R7895:Clasp2	UTSW	9	113903948	missense	probably benign	0.03
R8084:Clasp2	UTSW	9	113847755	missense	probably benign	0.16
R8109:Clasp2	UTSW	9	113911520	missense	probably damaging	1.00
R8171:Clasp2	UTSW	9	113903906	missense	possibly damaging	0.88
R8230:Clasp2	UTSW	9	113892414	missense	possibly damaging	0.73
X0022:Clasp2	UTSW	9	113852672	missense	probably damaging	1.00
Z1177:Clasp2	UTSW	9	113770221	missense	probably damaging	1.00
Z1177:Clasp2	UTSW	9	113908795	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GATTGGTTCAGTTTACCCAGTTTC -3'
(R):5'- TGTGACTCATTAACCCTAACCG -3'

Sequencing Primer
(F):5'- CAGTTTCTACTCAACATGGATACTGC -3'
(R):5'- TGACTCATTAACCCTAACCGCAGAG -3'

Posted On

2017-08-16