Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01833:Clip2'

154859

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clip2

Ensembl Gene

ENSMUSG00000063146

Gene Name

CAP-GLY domain containing linker protein 2

Synonyms

Cyln2, WSCR4, CLIP-115

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

IGL01833

Quality Score

Status

Chromosome

Chromosomal Location

134518237-134581288 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 134526938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098212 (fasta)

Gene Model

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

AlphaFold

Q9Z0H8

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,062 (GRCm39)	N190S	probably benign	Het
Adamts18	T	A	8: 114,469,728 (GRCm39)	Y658F	probably benign	Het
Camsap3	T	A	8: 3,658,508 (GRCm39)	L1151Q	probably damaging	Het
Casp14	T	A	10: 78,551,237 (GRCm39)	Y16F	probably damaging	Het
Clip4	G	A	17: 72,134,785 (GRCm39)		probably benign	Het
Cyb5r4	G	A	9: 86,941,505 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,827,874 (GRCm39)	N2329K	unknown	Het
Fam163a	T	A	1: 155,955,742 (GRCm39)	I17F	probably damaging	Het
Galnt1	T	A	18: 24,400,617 (GRCm39)	I241N	probably damaging	Het
Galnt14	T	G	17: 73,811,899 (GRCm39)	I441L	probably benign	Het
Gpr45	T	C	1: 43,071,402 (GRCm39)	L15P	probably benign	Het
Hivep1	A	T	13: 42,308,464 (GRCm39)	K235*	probably null	Het
Kcnip2	T	C	19: 45,782,746 (GRCm39)		probably null	Het
Kpna3	T	C	14: 61,607,894 (GRCm39)	N437S	possibly damaging	Het
Lmtk2	A	T	5: 144,112,753 (GRCm39)	R1158*	probably null	Het
Lpo	A	G	11: 87,698,159 (GRCm39)	V612A	possibly damaging	Het
Myh15	T	C	16: 48,934,421 (GRCm39)	C663R	probably damaging	Het
Nacad	G	A	11: 6,555,700 (GRCm39)	R17C	unknown	Het
Or7a35	A	T	10: 78,853,770 (GRCm39)	M205L	probably benign	Het
Pcsk2	A	G	2: 143,529,500 (GRCm39)	Q99R	possibly damaging	Het
Pkd1l2	T	C	8: 117,787,264 (GRCm39)	N593S	probably benign	Het
Plce1	G	A	19: 38,709,425 (GRCm39)	S1093N	probably damaging	Het
Prxl2b	G	T	4: 154,981,059 (GRCm39)		probably benign	Het
Rhpn2	T	A	7: 35,075,596 (GRCm39)	Y258N	probably benign	Het
Serpinb9d	T	C	13: 33,384,688 (GRCm39)	Y222H	probably damaging	Het
Shprh	T	C	10: 11,066,806 (GRCm39)	L1401P	probably damaging	Het
Slc5a7	A	G	17: 54,588,861 (GRCm39)	L262P	probably damaging	Het
Stat2	T	G	10: 128,117,045 (GRCm39)	F293V	probably benign	Het
Stpg4	T	A	17: 87,702,585 (GRCm39)		probably null	Het
Styk1	G	T	6: 131,279,329 (GRCm39)		probably benign	Het
Sult2a2	T	A	7: 13,468,721 (GRCm39)	D62E	probably damaging	Het
Sytl2	G	A	7: 90,045,745 (GRCm39)	V632M	probably damaging	Het
Themis	C	T	10: 28,658,307 (GRCm39)	Q445*	probably null	Het
Tmem225	A	T	9: 40,059,725 (GRCm39)	E35V	probably damaging	Het
Vmn1r48	T	A	6: 90,013,265 (GRCm39)	T187S	probably damaging	Het
Xpnpep1	A	G	19: 52,988,824 (GRCm39)	Y463H	probably damaging	Het

Other mutations in Clip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Clip2	APN	5	134,529,011 (GRCm39)	splice site	probably benign
IGL01024:Clip2	APN	5	134,539,066 (GRCm39)	missense	probably damaging	1.00
IGL01103:Clip2	APN	5	134,521,204 (GRCm39)	missense	possibly damaging	0.64
IGL01726:Clip2	APN	5	134,551,518 (GRCm39)	missense	probably damaging	1.00
IGL02174:Clip2	APN	5	134,523,118 (GRCm39)	missense	probably damaging	1.00
IGL02232:Clip2	APN	5	134,531,984 (GRCm39)	missense	probably damaging	1.00
IGL02271:Clip2	APN	5	134,531,425 (GRCm39)	missense	probably benign	0.35
IGL02471:Clip2	APN	5	134,546,876 (GRCm39)	missense	probably benign	0.04
IGL02690:Clip2	APN	5	134,539,013 (GRCm39)	splice site	probably benign
IGL03198:Clip2	APN	5	134,526,936 (GRCm39)	splice site	probably benign
IGL03269:Clip2	APN	5	134,545,748 (GRCm39)	missense	probably damaging	1.00
scissors	UTSW	5	134,546,853 (GRCm39)	nonsense	probably null
R0335:Clip2	UTSW	5	134,564,069 (GRCm39)	start gained	probably benign
R0422:Clip2	UTSW	5	134,526,967 (GRCm39)	missense	probably benign	0.04
R0519:Clip2	UTSW	5	134,545,005 (GRCm39)	missense	probably benign	0.01
R1169:Clip2	UTSW	5	134,521,104 (GRCm39)	missense	probably benign	0.36
R1642:Clip2	UTSW	5	134,532,107 (GRCm39)	missense	possibly damaging	0.89
R1718:Clip2	UTSW	5	134,531,783 (GRCm39)	nonsense	probably null
R1822:Clip2	UTSW	5	134,532,081 (GRCm39)	missense	probably benign	0.01
R1824:Clip2	UTSW	5	134,532,081 (GRCm39)	missense	probably benign	0.01
R2011:Clip2	UTSW	5	134,531,969 (GRCm39)	missense	probably damaging	1.00
R3106:Clip2	UTSW	5	134,551,918 (GRCm39)	missense	probably benign	0.12
R3890:Clip2	UTSW	5	134,551,847 (GRCm39)	missense	probably damaging	1.00
R3891:Clip2	UTSW	5	134,551,847 (GRCm39)	missense	probably damaging	1.00
R3892:Clip2	UTSW	5	134,551,847 (GRCm39)	missense	probably damaging	1.00
R4134:Clip2	UTSW	5	134,521,107 (GRCm39)	missense	probably benign	0.08
R4237:Clip2	UTSW	5	134,564,051 (GRCm39)	start gained	probably benign
R4239:Clip2	UTSW	5	134,564,051 (GRCm39)	start gained	probably benign
R4294:Clip2	UTSW	5	134,521,167 (GRCm39)	missense	probably benign	0.09
R4450:Clip2	UTSW	5	134,531,807 (GRCm39)	missense	possibly damaging	0.82
R4741:Clip2	UTSW	5	134,545,123 (GRCm39)	missense	probably benign	0.02
R5186:Clip2	UTSW	5	134,551,645 (GRCm39)	missense	possibly damaging	0.46
R5235:Clip2	UTSW	5	134,551,645 (GRCm39)	missense	possibly damaging	0.46
R5409:Clip2	UTSW	5	134,551,645 (GRCm39)	missense	possibly damaging	0.46
R5410:Clip2	UTSW	5	134,551,645 (GRCm39)	missense	possibly damaging	0.46
R5448:Clip2	UTSW	5	134,542,902 (GRCm39)	missense	probably benign	0.01
R5900:Clip2	UTSW	5	134,531,633 (GRCm39)	missense	possibly damaging	0.48
R6464:Clip2	UTSW	5	134,520,779 (GRCm39)	missense	probably benign	0.00
R7032:Clip2	UTSW	5	134,551,484 (GRCm39)	missense	probably damaging	1.00
R7152:Clip2	UTSW	5	134,525,095 (GRCm39)	missense	probably damaging	1.00
R7216:Clip2	UTSW	5	134,531,771 (GRCm39)	missense	probably benign	0.01
R7358:Clip2	UTSW	5	134,531,484 (GRCm39)	nonsense	probably null
R7725:Clip2	UTSW	5	134,546,853 (GRCm39)	nonsense	probably null
R8380:Clip2	UTSW	5	134,531,651 (GRCm39)	missense	probably damaging	0.96
R8680:Clip2	UTSW	5	134,531,462 (GRCm39)	missense	probably benign
R9095:Clip2	UTSW	5	134,532,254 (GRCm39)	missense	possibly damaging	0.93
R9158:Clip2	UTSW	5	134,521,251 (GRCm39)	missense	probably benign	0.00
R9277:Clip2	UTSW	5	134,528,963 (GRCm39)	missense	probably benign
R9300:Clip2	UTSW	5	134,526,942 (GRCm39)	critical splice donor site	probably null
R9457:Clip2	UTSW	5	134,531,584 (GRCm39)	missense	probably benign	0.00
R9491:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9605:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9630:Clip2	UTSW	5	134,531,934 (GRCm39)	missense	probably damaging	1.00
R9657:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9660:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9661:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9662:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9663:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9730:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9731:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9732:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9773:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9787:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
R9788:Clip2	UTSW	5	134,533,616 (GRCm39)	missense	probably benign	0.04
X0062:Clip2	UTSW	5	134,531,990 (GRCm39)	missense	probably benign	0.12
Z1177:Clip2	UTSW	5	134,551,853 (GRCm39)	missense	probably damaging	1.00
Z1177:Clip2	UTSW	5	134,545,689 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-02-04