Mutagenetix > Incidental Mutation

Incidental Mutation 'R8230:Clasp2'

637108

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

067662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8230 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113570541-113748750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113721482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 763 (D763G)

Ref Sequence

ENSEMBL: ENSMUSP00000107469 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111838
AA Change: D763G

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107469
Gene: ENSMUSG00000033392
AA Change: D763G

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

possibly damaging
Transcript: ENSMUST00000163895
AA Change: D784G

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128460
Gene: ENSMUSG00000033392
AA Change: D784G

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: D764G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130201
Gene: ENSMUSG00000033392
AA Change: D764G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,246,904 (GRCm39)	Y485H	probably benign	Het
Actl7a	T	A	4: 56,743,768 (GRCm39)	H98Q	probably damaging	Het
Adam15	G	A	3: 89,252,917 (GRCm39)	T267I	probably benign	Het
Ankrd17	T	C	5: 90,391,835 (GRCm39)	H1945R	possibly damaging	Het
Baiap3	A	G	17: 25,465,827 (GRCm39)	I585T	probably benign	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Cbx3	T	C	6: 51,452,281 (GRCm39)	V32A	probably damaging	Het
Ccdc127	T	C	13: 74,508,751 (GRCm39)	F50S	unknown	Het
Ccdc15	T	C	9: 37,226,555 (GRCm39)	E473G	probably benign	Het
Dab2	T	A	15: 6,451,824 (GRCm39)	F147I	probably damaging	Het
Dcaf1	G	A	9: 106,735,914 (GRCm39)	G954D	probably damaging	Het
Etv1	T	C	12: 38,830,935 (GRCm39)	M1T	probably null	Het
F2r	T	A	13: 95,741,247 (GRCm39)	D96V	possibly damaging	Het
Fancm	A	G	12: 65,149,424 (GRCm39)	D730G	probably benign	Het
Fbf1	T	C	11: 116,037,565 (GRCm39)	I892V	probably benign	Het
Gbp8	T	C	5: 105,198,735 (GRCm39)	N60S	probably benign	Het
Gm12790	T	C	4: 101,825,280 (GRCm39)	I45V	probably benign	Het
Herc1	G	A	9: 66,377,598 (GRCm39)	V3455I	probably damaging	Het
Hic1	T	C	11: 75,056,411 (GRCm39)	D826G	possibly damaging	Het
Hmcn2	A	G	2: 31,234,485 (GRCm39)	Y300C	possibly damaging	Het
Ifit1	A	G	19: 34,625,068 (GRCm39)	Q68R	probably benign	Het
Igdcc4	A	G	9: 65,030,020 (GRCm39)	Y309C	probably damaging	Het
Itpr3	T	C	17: 27,326,711 (GRCm39)		probably null	Het
Kat7	T	C	11: 95,168,415 (GRCm39)	K414E	probably damaging	Het
Lmnb2	A	T	10: 80,740,982 (GRCm39)	L260Q	probably damaging	Het
Mapk1	T	C	16: 16,843,930 (GRCm39)	I215T	noncoding transcript	Het
Ntpcr	G	T	8: 126,464,159 (GRCm39)		probably null	Het
Ntrk3	C	A	7: 77,900,518 (GRCm39)	C607F	probably damaging	Het
Or10ag54	A	T	2: 87,099,545 (GRCm39)	H119L	probably benign	Het
Or56a4	A	G	7: 104,806,631 (GRCm39)	I86T	probably damaging	Het
Or5w13	T	A	2: 87,523,705 (GRCm39)	I174F	probably damaging	Het
Pcdh15	T	C	10: 74,191,707 (GRCm39)	V601A	probably damaging	Het
Plagl2	A	G	2: 153,074,239 (GRCm39)	C221R	probably damaging	Het
Shf	A	G	2: 122,179,968 (GRCm39)	Y195H	probably damaging	Het
Tapbpl	T	A	6: 125,203,684 (GRCm39)	Y332F	probably damaging	Het
Tbx15	G	T	3: 99,259,305 (GRCm39)	C392F	probably damaging	Het
Ubxn7	T	C	16: 32,194,094 (GRCm39)	L222P	probably benign	Het
Vsig8	A	T	1: 172,389,078 (GRCm39)	D222V	probably damaging	Het
Xirp2	A	G	2: 67,346,009 (GRCm39)	E2750G	probably damaging	Het
Zfp870	A	G	17: 33,102,663 (GRCm39)	V222A	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
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
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'- ACTGTAAGTTGAGATGCCTTTACTC -3'
(R):5'- GCTGGCGCAACTATCTGAAAG -3'

Sequencing Primer
(F):5'- AAGTTGAGATGCCTTTACTCTTGAGC -3'
(R):5'- TTTATAAAAACAAAACCCACTGATCG -3'

Posted On

2020-07-13