Mutagenetix > Incidental Mutation

Incidental Mutation 'R3879:Clasp2'

308684

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

040793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113570541-113748750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113719029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 705 (F705L)

Ref Sequence

ENSEMBL: ENSMUSP00000130201 (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: F704L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392
AA Change: F704L

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: F725L

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: F725L

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: F705L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392
AA Change: F705L

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: F722L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000215022

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (38/40)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,970,561 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,122,520 (GRCm39)	H68Y	probably damaging	Het
Abcc8	T	A	7: 45,754,051 (GRCm39)	K1588N	possibly damaging	Het
Calcoco1	T	C	15: 102,615,823 (GRCm39)	D601G	probably damaging	Het
Ccdc175	C	A	12: 72,182,792 (GRCm39)	R409I	probably damaging	Het
Ccnl1	A	G	3: 65,856,179 (GRCm39)	V242A	possibly damaging	Het
Cyp46a1	A	G	12: 108,324,389 (GRCm39)	T389A	probably benign	Het
Eps8	A	G	6: 137,504,360 (GRCm39)		probably benign	Het
Gm9894	T	C	13: 67,912,916 (GRCm39)		noncoding transcript	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Nup153	A	T	13: 46,837,436 (GRCm39)	V1262E	probably damaging	Het
Nup210l	A	G	3: 90,092,780 (GRCm39)	T1245A	probably damaging	Het
Or10ad1b	C	T	15: 98,125,085 (GRCm39)	C147Y	probably damaging	Het
Or5b121	A	G	19: 13,507,613 (GRCm39)	Y236C	probably damaging	Het
Pcif1	G	A	2: 164,727,878 (GRCm39)	G189D	probably benign	Het
Pdzd2	A	G	15: 12,375,594 (GRCm39)	S1514P	probably damaging	Het
Pigu	A	T	2: 155,141,063 (GRCm39)	F276I	probably damaging	Het
Pramex1	T	C	X: 134,514,194 (GRCm39)	H365R	probably benign	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rasgrp2	A	T	19: 6,463,920 (GRCm39)	Q539H	probably benign	Het
Rgs22	T	G	15: 36,107,051 (GRCm39)	I112L	possibly damaging	Het
Slc26a9	A	T	1: 131,696,969 (GRCm39)	T786S	probably benign	Het
Sned1	A	G	1: 93,192,752 (GRCm39)		probably benign	Het
St7l	G	A	3: 104,833,763 (GRCm39)	V475I	probably damaging	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top3a	A	G	11: 60,634,765 (GRCm39)	V713A	possibly damaging	Het
Trim16	G	A	11: 62,731,433 (GRCm39)	G348S	probably damaging	Het
Tshz3	C	T	7: 36,470,962 (GRCm39)	Q984*	probably null	Het
Ttn	A	G	2: 76,566,406 (GRCm39)		probably null	Het
Ubfd1	T	A	7: 121,667,999 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,572 (GRCm39)	Y497*	probably null	Het
Zfp462	G	A	4: 55,060,095 (GRCm39)	C1207Y	probably damaging	Het
Zfp607b	A	G	7: 27,403,476 (GRCm39)	E644G	possibly 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
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'- CTTGCATCACAGAGTCCAGTG -3'
(R):5'- GTATCAATAACACTTCAACACAGGG -3'

Sequencing Primer
(F):5'- CTTGCATCACAGAGTCCAGTGAAAAG -3'
(R):5'- TTTTGCCTGAACAGAGCC -3'

Posted On

2015-04-17