Mutagenetix > Incidental Mutation

Incidental Mutation 'R2330:Clasp2'

245844

Institutional Source

Beutler Lab

Gene Symbol

Clasp2

Ensembl Gene

ENSMUSG00000033392

Gene Name

CLIP associating protein 2

Synonyms

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

MMRRC Submission

040321-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113570541-113748750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113705372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 594 (V594A)

Ref Sequence

ENSEMBL: ENSMUSP00000149670 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000111838
AA Change: V576A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392
AA Change: V576A

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: V597A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: V597A

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 damaging
Transcript: ENSMUST00000166734
AA Change: V576A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392
AA Change: V576A

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 damaging
Transcript: ENSMUST00000214522
AA Change: V594A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000215022

Meta Mutation Damage Score

0.2241

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (31/31)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp9a	A	G	2: 168,481,849 (GRCm39)	S958P	probably benign	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Col12a1	A	G	9: 79,540,939 (GRCm39)	I2396T	probably damaging	Het
Col1a2	T	A	6: 4,528,300 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dnaja3	T	A	16: 4,507,880 (GRCm39)	D127E	probably benign	Het
Etnppl	T	C	3: 130,424,224 (GRCm39)	L332P	probably damaging	Het
Gm4559	A	T	7: 141,827,833 (GRCm39)	C90S	unknown	Het
Gramd1c	T	C	16: 43,803,566 (GRCm39)	N616D	probably benign	Het
Hmcn1	A	G	1: 150,528,429 (GRCm39)		probably benign	Het
Hydin	C	A	8: 111,291,641 (GRCm39)	Q3378K	probably benign	Het
Lin7b	A	G	7: 45,019,337 (GRCm39)		probably null	Het
Mex3c	G	A	18: 73,706,799 (GRCm39)	V229I	probably damaging	Het
Micall2	C	G	5: 139,703,270 (GRCm39)	G189R	probably damaging	Het
Ncam2	A	G	16: 81,309,809 (GRCm39)	H433R	probably benign	Het
Or2t45	A	T	11: 58,669,825 (GRCm39)	S291C	probably damaging	Het
Or4c12	T	C	2: 89,774,297 (GRCm39)	N54S	probably benign	Het
Or6c5	C	T	10: 129,074,908 (GRCm39)	Q297*	probably null	Het
Pml	A	T	9: 58,141,854 (GRCm39)	V326E	probably damaging	Het
Prl2c5	T	A	13: 13,366,378 (GRCm39)	M219K	possibly damaging	Het
Rfc1	A	T	5: 65,470,312 (GRCm39)	I65N	possibly damaging	Het
Rsbn1	T	C	3: 103,821,816 (GRCm39)	L17P	probably damaging	Het
Serpina3m	A	G	12: 104,357,963 (GRCm39)	K296E	possibly damaging	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Spag6l	T	C	16: 16,646,949 (GRCm39)	Q19R	probably benign	Het
Tgm6	A	C	2: 129,985,162 (GRCm39)	D344A	probably damaging	Het
Zfp7	T	C	15: 76,775,509 (GRCm39)	I517T	probably damaging	Het
Zfp831	T	A	2: 174,489,882 (GRCm39)	Y1216*	probably null	Het

Other mutations in Clasp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Clasp2	APN	9	113,735,060 (GRCm39)	splice site	probably benign
IGL00885:Clasp2	APN	9	113,740,484 (GRCm39)	missense	probably damaging	1.00
IGL01314:Clasp2	APN	9	113,735,195 (GRCm39)	missense	possibly damaging	0.89
IGL01344:Clasp2	APN	9	113,642,360 (GRCm39)	splice site	probably null
IGL01567:Clasp2	APN	9	113,709,164 (GRCm39)	missense	probably damaging	1.00
IGL02238:Clasp2	APN	9	113,709,088 (GRCm39)	missense	probably damaging	1.00
IGL02299:Clasp2	APN	9	113,709,057 (GRCm39)	missense	probably damaging	1.00
IGL02323:Clasp2	APN	9	113,697,794 (GRCm39)	splice site	probably benign
IGL02635:Clasp2	APN	9	113,737,910 (GRCm39)	missense	probably damaging	0.98
IGL02645:Clasp2	APN	9	113,719,129 (GRCm39)	missense	probably damaging	1.00
IGL02976:Clasp2	APN	9	113,735,204 (GRCm39)	missense	probably damaging	1.00
IGL03190:Clasp2	APN	9	113,673,208 (GRCm39)	nonsense	probably null
IGL03219:Clasp2	APN	9	113,677,545 (GRCm39)	splice site	probably benign
PIT4810001:Clasp2	UTSW	9	113,735,135 (GRCm39)	missense	probably damaging	1.00
R0067:Clasp2	UTSW	9	113,689,209 (GRCm39)	splice site	probably benign
R0067:Clasp2	UTSW	9	113,689,209 (GRCm39)	splice site	probably benign
R0421:Clasp2	UTSW	9	113,683,370 (GRCm39)	missense	probably benign	0.02
R0432:Clasp2	UTSW	9	113,738,487 (GRCm39)	missense	probably benign	0.00
R0458:Clasp2	UTSW	9	113,735,292 (GRCm39)	splice site	probably null
R0865:Clasp2	UTSW	9	113,740,568 (GRCm39)	missense	possibly damaging	0.57
R0972:Clasp2	UTSW	9	113,676,773 (GRCm39)	missense	possibly damaging	0.58
R1037:Clasp2	UTSW	9	113,725,702 (GRCm39)	splice site	probably benign
R1925:Clasp2	UTSW	9	113,735,265 (GRCm39)	missense	possibly damaging	0.88
R2015:Clasp2	UTSW	9	113,740,568 (GRCm39)	missense	possibly damaging	0.57
R2066:Clasp2	UTSW	9	113,735,225 (GRCm39)	missense	possibly damaging	0.86
R2568:Clasp2	UTSW	9	113,707,832 (GRCm39)	missense	probably benign
R3011:Clasp2	UTSW	9	113,730,581 (GRCm39)	missense	probably damaging	1.00
R3879:Clasp2	UTSW	9	113,719,029 (GRCm39)	missense	probably damaging	0.98
R3915:Clasp2	UTSW	9	113,737,805 (GRCm39)	missense	probably damaging	0.99
R3928:Clasp2	UTSW	9	113,735,173 (GRCm39)	missense	probably benign	0.28
R4323:Clasp2	UTSW	9	113,719,027 (GRCm39)	missense	possibly damaging	0.91
R4571:Clasp2	UTSW	9	113,676,789 (GRCm39)	missense	probably damaging	1.00
R4975:Clasp2	UTSW	9	113,732,984 (GRCm39)	missense	probably damaging	1.00
R5445:Clasp2	UTSW	9	113,733,014 (GRCm39)	missense	probably damaging	1.00
R5564:Clasp2	UTSW	9	113,641,836 (GRCm39)	critical splice donor site	probably null
R5697:Clasp2	UTSW	9	113,689,190 (GRCm39)	missense	probably benign	0.01
R5780:Clasp2	UTSW	9	113,679,220 (GRCm39)	missense	probably damaging	0.99
R5787:Clasp2	UTSW	9	113,691,310 (GRCm39)	missense	probably damaging	1.00
R6011:Clasp2	UTSW	9	113,705,315 (GRCm39)	missense	probably benign	0.07
R6026:Clasp2	UTSW	9	113,740,646 (GRCm39)	missense	probably benign	0.13
R6090:Clasp2	UTSW	9	113,681,803 (GRCm39)	missense	probably benign	0.06
R6262:Clasp2	UTSW	9	113,705,420 (GRCm39)	critical splice donor site	probably null
R6427:Clasp2	UTSW	9	113,721,512 (GRCm39)	missense	probably damaging	1.00
R6464:Clasp2	UTSW	9	113,602,785 (GRCm39)	missense	probably damaging	1.00
R6586:Clasp2	UTSW	9	113,642,332 (GRCm39)	missense	probably damaging	1.00
R6628:Clasp2	UTSW	9	113,725,788 (GRCm39)	missense	probably damaging	1.00
R6745:Clasp2	UTSW	9	113,704,338 (GRCm39)	nonsense	probably null
R7032:Clasp2	UTSW	9	113,683,391 (GRCm39)	missense	probably benign	0.04
R7165:Clasp2	UTSW	9	113,615,467 (GRCm39)	splice site	probably null
R7221:Clasp2	UTSW	9	113,681,825 (GRCm39)	missense	probably damaging	0.99
R7336:Clasp2	UTSW	9	113,705,421 (GRCm39)	splice site	probably null
R7583:Clasp2	UTSW	9	113,737,755 (GRCm39)	missense	probably benign	0.02
R7774:Clasp2	UTSW	9	113,677,804 (GRCm39)	splice site	probably null
R7895:Clasp2	UTSW	9	113,733,016 (GRCm39)	missense	probably benign	0.03
R8084:Clasp2	UTSW	9	113,676,823 (GRCm39)	missense	probably benign	0.16
R8109:Clasp2	UTSW	9	113,740,588 (GRCm39)	missense	probably damaging	1.00
R8171:Clasp2	UTSW	9	113,732,974 (GRCm39)	missense	possibly damaging	0.88
R8230:Clasp2	UTSW	9	113,721,482 (GRCm39)	missense	possibly damaging	0.73
R8810:Clasp2	UTSW	9	113,728,649 (GRCm39)	missense	probably damaging	1.00
R8879:Clasp2	UTSW	9	113,602,773 (GRCm39)	missense	probably benign	0.39
R8888:Clasp2	UTSW	9	113,732,936 (GRCm39)	missense	possibly damaging	0.54
R8889:Clasp2	UTSW	9	113,709,251 (GRCm39)	missense	probably damaging	1.00
R8892:Clasp2	UTSW	9	113,709,251 (GRCm39)	missense	probably damaging	1.00
R8922:Clasp2	UTSW	9	113,725,728 (GRCm39)	nonsense	probably null
R9042:Clasp2	UTSW	9	113,735,065 (GRCm39)	missense	probably benign
R9195:Clasp2	UTSW	9	113,671,045 (GRCm39)	missense	probably benign	0.06
R9355:Clasp2	UTSW	9	113,664,309 (GRCm39)	missense	probably damaging	1.00
R9481:Clasp2	UTSW	9	113,670,669 (GRCm39)	missense	probably damaging	1.00
R9502:Clasp2	UTSW	9	113,737,866 (GRCm39)	missense	probably benign	0.01
R9523:Clasp2	UTSW	9	113,705,372 (GRCm39)	missense	probably damaging	0.98
R9525:Clasp2	UTSW	9	113,740,677 (GRCm39)	missense	probably damaging	1.00
R9653:Clasp2	UTSW	9	113,670,993 (GRCm39)	missense	probably benign	0.01
R9699:Clasp2	UTSW	9	113,738,614 (GRCm39)	critical splice donor site	probably null
R9738:Clasp2	UTSW	9	113,590,665 (GRCm39)	nonsense	probably null
R9775:Clasp2	UTSW	9	113,725,740 (GRCm39)	missense	probably benign
X0022:Clasp2	UTSW	9	113,681,740 (GRCm39)	missense	probably damaging	1.00
Z1177:Clasp2	UTSW	9	113,599,289 (GRCm39)	missense	probably damaging	1.00
Z1177:Clasp2	UTSW	9	113,737,863 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAAAACCTCATTGTGCCCAG -3'
(R):5'- TTGCCATACAGTCAGTACACTACAG -3'

Sequencing Primer
(F):5'- GCTTTTAAAATGCTTTGTCCCATTGG -3'
(R):5'- ACCTAGTTAAGATTACTGGAACTGAC -3'

Posted On

2014-10-30