Mutagenetix > Incidental Mutation

Incidental Mutation 'R6745:Clasp2'

530536

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

044862-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113570541-113748750 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 113704338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 558 (R558*)

Ref Sequence

ENSEMBL: ENSMUSP00000128460 (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

SMART Domains

Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392

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 null
Transcript: ENSMUST00000163895
AA Change: R558*

SMART Domains

Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: R558*

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

SMART Domains

Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215022

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,265,941 (GRCm39)	T1040K	probably damaging	Het
Adgrf3	A	G	5: 30,408,601 (GRCm39)	V59A	probably benign	Het
Ankk1	G	T	9: 49,327,480 (GRCm39)	H566Q	probably benign	Het
Avil	A	C	10: 126,849,988 (GRCm39)	D613A	probably benign	Het
Bbs9	A	G	9: 22,582,132 (GRCm39)	N613S	probably benign	Het
Chd1	A	G	17: 17,607,429 (GRCm39)	T326A	probably benign	Het
Cmbl	A	G	15: 31,589,933 (GRCm39)	D221G	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Creb5	A	T	6: 53,581,517 (GRCm39)	M172L	probably benign	Het
Crybg3	A	G	16: 59,372,607 (GRCm39)	V2291A	possibly damaging	Het
Cyp2g1	T	G	7: 26,513,604 (GRCm39)	V181G	probably damaging	Het
Dclk1	T	A	3: 55,385,229 (GRCm39)	S40T	probably damaging	Het
Dnah10	G	T	5: 124,885,876 (GRCm39)	M3053I	probably damaging	Het
Dnah12	T	A	14: 26,428,383 (GRCm39)	I268K	probably damaging	Het
Dock2	C	G	11: 34,596,669 (GRCm39)	D396H	probably damaging	Het
Dock2	T	A	11: 34,596,670 (GRCm39)	K395N	probably damaging	Het
Gpbp1	G	A	13: 111,589,919 (GRCm39)	R59C	probably benign	Het
Ifi47	T	G	11: 48,986,329 (GRCm39)	I32S	probably benign	Het
Ighg3	A	G	12: 113,323,890 (GRCm39)	V166A	unknown	Het
Katnip	T	C	7: 125,369,822 (GRCm39)	S137P	probably benign	Het
Kdm5d	T	A	Y: 927,112 (GRCm39)	C617S	probably benign	Homo
Kif20b	T	G	19: 34,906,276 (GRCm39)	S55A	possibly damaging	Het
Klhl1	C	T	14: 96,517,438 (GRCm39)		probably null	Het
Kndc1	C	T	7: 139,500,892 (GRCm39)	T727I	probably benign	Het
Lrrk1	A	T	7: 65,922,749 (GRCm39)	I298N	probably damaging	Het
Ly75	C	A	2: 60,138,523 (GRCm39)	R1448L	probably damaging	Het
Mup4	C	T	4: 59,960,091 (GRCm39)	V58M	possibly damaging	Het
Nr2c1	T	C	10: 94,026,526 (GRCm39)	F467S	probably damaging	Het
Or14j9	T	A	17: 37,874,470 (GRCm39)	H244L	probably damaging	Het
Pla2g4a	G	T	1: 149,761,981 (GRCm39)	Q151K	probably benign	Het
Pom121l2	A	T	13: 22,167,868 (GRCm39)	Q713L	probably benign	Het
Pomgnt1	T	A	4: 116,011,080 (GRCm39)	S210T	probably damaging	Het
Prb1a	T	C	6: 132,186,383 (GRCm39)		probably null	Het
Pyroxd2	T	C	19: 42,735,799 (GRCm39)	D101G	probably damaging	Het
Ranbp3	A	G	17: 57,016,308 (GRCm39)	D359G	probably benign	Het
Rgsl1	T	A	1: 153,698,063 (GRCm39)	I531F	probably benign	Het
Serpina1b	T	C	12: 103,696,614 (GRCm39)	N265S	possibly damaging	Het
Slc51b	T	C	9: 65,320,212 (GRCm39)	E85G	possibly damaging	Het
Stk32c	T	A	7: 138,702,809 (GRCm39)	R195W	probably damaging	Het
Uggt2	T	C	14: 119,280,022 (GRCm39)	T819A	possibly damaging	Het
Ugt1a9	A	T	1: 87,998,898 (GRCm39)	E116V	probably benign	Het
Zswim5	C	G	4: 116,832,401 (GRCm39)	P543A	probably damaging	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
R2330:Clasp2	UTSW	9	113,705,372 (GRCm39)	missense	probably damaging	1.00
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
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'- CCGTCCACTTAGGTGTGATTTG -3'
(R):5'- TGCTAAGGGGTTGCTAAAGG -3'

Sequencing Primer
(F):5'- TCCACTTAGGTGTGATTTGTATTTG -3'
(R):5'- GGGGGAAAAACATAAGTGATTTATTC -3'

Posted On

2018-08-01