Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02471:Clip2'

294711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clip2

Ensembl Gene

ENSMUSG00000063146

Gene Name

CAP-GLY domain containing linker protein 2

Synonyms

WSCR4, Cyln2, CLIP-115

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

IGL02471

Quality Score

Status

Chromosome

Chromosomal Location

134489383-134552434 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134518022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 231 (T231A)

Ref Sequence

ENSEMBL: ENSMUSP00000098212 (fasta)

Gene Model

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

AlphaFold

Q9Z0H8

Predicted Effect

probably benign
Transcript: ENSMUST00000036999
AA Change: T231A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146
AA Change: T231A

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
AA Change: T231A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: T231A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202895

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,258,198	H2378N	probably benign	Het
Btaf1	C	A	19: 37,000,192	A1470E	probably damaging	Het
Ccdc110	A	G	8: 45,941,756	D228G	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cldn18	T	C	9: 99,696,075	D205G	probably benign	Het
Cltc	A	G	11: 86,718,034	V723A	probably damaging	Het
Cpa3	C	T	3: 20,228,807		probably null	Het
Cyfip2	T	G	11: 46,200,803	T1097P	possibly damaging	Het
Dnah9	T	A	11: 65,947,618	R667*	probably null	Het
Dock10	T	C	1: 80,515,622	E1878G	probably damaging	Het
Ermap	G	A	4: 119,179,963	H353Y	probably damaging	Het
Etfa	A	T	9: 55,486,700		probably null	Het
F5	C	T	1: 164,174,291	P188S	probably damaging	Het
Foxq1	G	A	13: 31,559,343	E143K	possibly damaging	Het
Gsr	C	T	8: 33,682,584		probably benign	Het
Hebp1	T	A	6: 135,155,276	Y31F	probably benign	Het
Ighv1-14	T	C	12: 114,646,837		noncoding transcript	Het
Lamb1	T	A	12: 31,320,908	D1319E	probably damaging	Het
Lrp5	A	T	19: 3,602,408	V1154E	probably benign	Het
Manba	G	A	3: 135,507,008		probably benign	Het
Mknk2	A	T	10: 80,668,121	F319I	probably damaging	Het
Mup6	A	T	4: 60,003,971		probably benign	Het
Nalcn	T	C	14: 123,323,314	T784A	probably benign	Het
Nt5dc1	T	C	10: 34,403,725	E107G	probably benign	Het
Olfr1497	G	A	19: 13,795,225	P129S	probably damaging	Het
Olfr688	T	A	7: 105,289,045	F317L	probably benign	Het
Olfr745	A	T	14: 50,642,757	I159F	probably benign	Het
Phldb1	T	C	9: 44,711,233	E41G	probably damaging	Het
Ptk2	T	C	15: 73,298,187	D309G	probably benign	Het
Rab11fip5	A	G	6: 85,348,225	S367P	probably damaging	Het
Rb1cc1	T	A	1: 6,240,051	N224K	probably benign	Het
Rchy1	A	T	5: 91,957,546	C65*	probably null	Het
Rgs18	T	C	1: 144,774,621	D56G	probably benign	Het
Rtraf	A	C	14: 19,812,228	L197R	probably damaging	Het
Slc44a5	G	T	3: 154,256,576	W382L	probably damaging	Het
Snx24	C	T	18: 53,385,169		probably benign	Het
Sphkap	T	C	1: 83,276,176	D1284G	probably damaging	Het
Tmem54	A	G	4: 129,108,318	M53V	probably benign	Het
Trip6	G	A	5: 137,310,356	P414S	probably benign	Het
Vmn1r38	A	G	6: 66,776,767	Y122H	probably benign	Het
Wapl	T	A	14: 34,691,920	N246K	possibly damaging	Het
Zfp12	G	A	5: 143,244,796	G293R	probably damaging	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het
Zfp446	T	G	7: 12,982,254	V209G	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	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
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
R0335:Clip2	UTSW	5	134535215	start gained	probably benign
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
R9095:Clip2	UTSW	5	134503400	missense	possibly damaging	0.93
R9158:Clip2	UTSW	5	134492397	missense	probably benign	0.00
R9277:Clip2	UTSW	5	134500109	missense	probably benign
R9300:Clip2	UTSW	5	134498088	critical splice donor site	probably null
R9457:Clip2	UTSW	5	134502730	missense	probably benign	0.00
R9491:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9605:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9630:Clip2	UTSW	5	134503080	missense	probably damaging	1.00
R9657:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9660:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9661:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9662:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9663:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9730:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9731:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9732:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9773:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9787:Clip2	UTSW	5	134504762	missense	probably benign	0.04
R9788:Clip2	UTSW	5	134504762	missense	probably benign	0.04
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

Posted On

2015-04-16