Mutagenetix > Incidental Mutations

Incidental Mutation 'R0335:Clip2'

261814

Institutional Source

Beutler Lab

Gene Symbol

Clip2

Ensembl Gene

ENSMUSG00000063146

Gene Name

CAP-GLY domain containing linker protein 2

Synonyms

WSCR4, Cyln2, CLIP-115

MMRRC Submission

038544-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R0335 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

134489383-134552434 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 134535215 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036999] [ENSMUST00000100647]

Predicted Effect

probably benign
Transcript: ENSMUST00000036999

SMART Domains

Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146

Domain	Start	End	E-Value	Type
low complexity region	17	39	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
CAP_GLY	82	147	2.72e-30	SMART
CAP_GLY	222	287	1.15e-33	SMART
low complexity region	315	339	N/A	INTRINSIC
coiled coil region	355	457	N/A	INTRINSIC
low complexity region	504	519	N/A	INTRINSIC
coiled coil region	529	578	N/A	INTRINSIC
coiled coil region	640	982	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100647

SMART Domains

Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146

Domain	Start	End	E-Value	Type
low complexity region	17	39	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
CAP_GLY	82	147	2.72e-30	SMART
CAP_GLY	222	287	1.15e-33	SMART
low complexity region	315	339	N/A	INTRINSIC
coiled coil region	355	496	N/A	INTRINSIC
low complexity region	539	554	N/A	INTRINSIC
coiled coil region	564	613	N/A	INTRINSIC
coiled coil region	675	1017	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous and heterozygous for disruptions in this gene display growth deficiency, brain abnormalities and hippocampal dysfunction and deficits in motor coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830406C13Rik	A	G	14: 12,301,266	E124G	possibly damaging	Het
4932438A13Rik	T	C	3: 36,969,152	V2210A	probably damaging	Het
Adamts12	G	T	15: 11,311,058	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,236,828	T460A	probably benign	Het
Amer3	A	C	1: 34,579,300		probably benign	Het
Arhgap22	C	T	14: 33,359,108		probably benign	Het
Arhgap32	T	G	9: 32,259,760	S1279A	probably benign	Het
Bcas1	G	A	2: 170,418,681	T26M	probably damaging	Het
Begain	A	T	12: 109,038,934	F256I	probably damaging	Het
Cabin1	A	T	10: 75,657,049	I1804N	probably damaging	Het
Cad	G	A	5: 31,073,985		probably benign	Het
Carmil1	G	A	13: 24,073,983	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,492,977	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,549		probably null	Het
Cmip	T	C	8: 117,445,366	I480T	probably damaging	Het
Cnot1	A	T	8: 95,772,000	I203K	probably benign	Het
Col18a1	G	A	10: 77,059,363	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956		probably benign	Het
Crybg3	A	T	16: 59,544,140	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 24,887,877	I935F	probably damaging	Het
Dapl1	T	A	2: 59,496,594	D61E	possibly damaging	Het
Def6	A	G	17: 28,228,069	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,069,399		probably benign	Het
Dvl2	G	A	11: 70,001,035		probably benign	Het
Ecd	A	C	14: 20,320,734	V639G	probably benign	Het
Epg5	C	T	18: 77,986,472	T1350M	probably benign	Het
Erbb4	C	A	1: 68,259,259	M657I	probably benign	Het
Evi5	T	C	5: 107,812,411	R431G	probably benign	Het
Fbxo11	G	A	17: 88,015,613	A115V	possibly damaging	Het
Fgfr2	T	C	7: 130,196,249	T192A	probably benign	Het
Gas7	C	T	11: 67,662,052	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,356,182	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048	Q41H	probably null	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm7535	A	G	17: 17,911,112		probably benign	Het
Gstm1	T	A	3: 108,012,696	N193I	possibly damaging	Het
Heatr5b	G	A	17: 78,827,946	P252L	probably benign	Het
Hmgb1	A	G	5: 149,050,631	V36A	probably benign	Het
Hrh1	G	T	6: 114,480,232	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,406,674	M53V	probably benign	Het
Iqgap2	T	A	13: 95,635,633	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,587,737	N433K	possibly damaging	Het
Kif1a	T	A	1: 93,052,566		probably benign	Het
Lctl	C	A	9: 64,118,887	Q75K	probably benign	Het
Ldb3	T	A	14: 34,578,651	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,677,095	L156Q	probably damaging	Het
Mark2	G	T	19: 7,281,828	T83K	probably benign	Het
Ms4a15	A	T	19: 10,980,210	D170E	probably damaging	Het
Msantd2	A	G	9: 37,522,760	S99G	possibly damaging	Het
Nemf	G	T	12: 69,353,803	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,394,136	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,804,773	I567V	probably benign	Het
Olfr111	A	C	17: 37,530,642	I222L	probably benign	Het
Olfr1340	A	G	4: 118,727,170	I308V	probably null	Het
Olfr323	T	C	11: 58,625,740	Y102C	probably damaging	Het
Olfr828	T	A	9: 18,815,994	Q100L	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pdk4	T	C	6: 5,491,138	E209G	probably benign	Het
Plch1	T	C	3: 63,710,978	Q712R	probably damaging	Het
Pnpla1	T	A	17: 28,886,878	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,719,258	D134V	probably damaging	Het
Ptov1	T	A	7: 44,864,622	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,708,728	I314V	probably benign	Het
Rabl2	T	C	15: 89,583,966	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,682,091	W191R	probably damaging	Het
Sec22b	T	A	3: 97,921,256	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,688,715		probably null	Het
Sept2	T	C	1: 93,495,599	S51P	probably damaging	Het
Serpinb1a	T	C	13: 32,848,656	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,743,863	T206I	probably benign	Het
Slc25a19	C	A	11: 115,624,206	R42L	probably damaging	Het
St14	G	A	9: 31,091,324		probably benign	Het
Stxbp1	C	T	2: 32,802,905		probably benign	Het
Tas2r131	C	T	6: 132,957,829	V6I	probably benign	Het
Tdo2	T	A	3: 81,964,000	M235L	probably benign	Het
Tenm3	T	G	8: 48,232,105	H2432P	probably damaging	Het
Tmprss15	C	T	16: 79,024,742		probably benign	Het
Tmx1	A	G	12: 70,453,256	N30D	probably benign	Het
Tom1	A	G	8: 75,064,392		probably null	Het
Top2a	T	C	11: 99,022,955	N20S	probably benign	Het
Ttc23l	T	A	15: 10,539,963	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 90,022,659	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,797,451		probably null	Het
Vps11	T	C	9: 44,353,838	Q641R	probably null	Het
Wapl	T	A	14: 34,692,324	I381N	probably damaging	Het
Zmym6	G	A	4: 127,122,808	G794E	probably damaging	Het

Other mutations in Clip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Clip2	APN	5	134500157	splice site	probably benign
IGL01024:Clip2	APN	5	134510212	missense	probably damaging	1.00
IGL01103:Clip2	APN	5	134492350	missense	possibly damaging	0.64
IGL01726:Clip2	APN	5	134522664	missense	probably damaging	1.00
IGL01833:Clip2	APN	5	134498084	splice site	probably benign
IGL02174:Clip2	APN	5	134494264	missense	probably damaging	1.00
IGL02232:Clip2	APN	5	134503130	missense	probably damaging	1.00
IGL02271:Clip2	APN	5	134502571	missense	probably benign	0.35
IGL02471:Clip2	APN	5	134518022	missense	probably benign	0.04
IGL02690:Clip2	APN	5	134510159	splice site	probably benign
IGL03198:Clip2	APN	5	134498082	splice site	probably benign
IGL03269:Clip2	APN	5	134516894	missense	probably damaging	1.00
scissors	UTSW	5	134517999	nonsense	probably null
R0422:Clip2	UTSW	5	134498113	missense	probably benign	0.04
R0519:Clip2	UTSW	5	134516151	missense	probably benign	0.01
R1169:Clip2	UTSW	5	134492250	missense	probably benign	0.36
R1642:Clip2	UTSW	5	134503253	missense	possibly damaging	0.89
R1718:Clip2	UTSW	5	134502929	nonsense	probably null
R1822:Clip2	UTSW	5	134503227	missense	probably benign	0.01
R1824:Clip2	UTSW	5	134503227	missense	probably benign	0.01
R2011:Clip2	UTSW	5	134503115	missense	probably damaging	1.00
R3106:Clip2	UTSW	5	134523064	missense	probably benign	0.12
R3890:Clip2	UTSW	5	134522993	missense	probably damaging	1.00
R3891:Clip2	UTSW	5	134522993	missense	probably damaging	1.00
R3892:Clip2	UTSW	5	134522993	missense	probably damaging	1.00
R4134:Clip2	UTSW	5	134492253	missense	probably benign	0.08
R4237:Clip2	UTSW	5	134535197	start gained	probably benign
R4239:Clip2	UTSW	5	134535197	start gained	probably benign
R4294:Clip2	UTSW	5	134492313	missense	probably benign	0.09
R4450:Clip2	UTSW	5	134502953	missense	possibly damaging	0.82
R4741:Clip2	UTSW	5	134516269	missense	probably benign	0.02
R5186:Clip2	UTSW	5	134522791	missense	possibly damaging	0.46
R5235:Clip2	UTSW	5	134522791	missense	possibly damaging	0.46
R5409:Clip2	UTSW	5	134522791	missense	possibly damaging	0.46
R5410:Clip2	UTSW	5	134522791	missense	possibly damaging	0.46
R5448:Clip2	UTSW	5	134514048	missense	probably benign	0.01
R5900:Clip2	UTSW	5	134502779	missense	possibly damaging	0.48
R6464:Clip2	UTSW	5	134491925	missense	probably benign	0.00
R7032:Clip2	UTSW	5	134522630	missense	probably damaging	1.00
R7152:Clip2	UTSW	5	134496241	missense	probably damaging	1.00
R7216:Clip2	UTSW	5	134502917	missense	probably benign	0.01
R7358:Clip2	UTSW	5	134502630	nonsense	probably null
R7725:Clip2	UTSW	5	134517999	nonsense	probably null
R8380:Clip2	UTSW	5	134502797	missense	probably damaging	0.96
R8680:Clip2	UTSW	5	134502608	missense	probably benign
X0062:Clip2	UTSW	5	134503136	missense	probably benign	0.12
Z1177:Clip2	UTSW	5	134516835	missense	probably damaging	0.98
Z1177:Clip2	UTSW	5	134522999	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-04