Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01103:Clip2'

51110

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?

Probably non essential (E-score: 0.228) question?

Stock #

IGL01103

Quality Score

Status

Chromosome

Chromosomal Location

134518237-134581288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134521204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 980 (S980P)

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: S945P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146
AA Change: S945P

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

possibly damaging
Transcript: ENSMUST00000100647
AA Change: S980P

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: S980P

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calhm6	A	T	10: 34,002,361 (GRCm39)	C241S	probably benign	Het
Cdh3	A	G	8: 107,281,937 (GRCm39)	Y775C	probably damaging	Het
Ddx51	C	T	5: 110,803,729 (GRCm39)	A375V	probably benign	Het
Eif4e	A	G	3: 138,253,412 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,495,577 (GRCm39)	D588G	probably benign	Het
Fer1l4	C	T	2: 155,886,361 (GRCm39)		probably null	Het
Fli1	T	C	9: 32,335,236 (GRCm39)	N399D	probably benign	Het
Gm20422	T	C	8: 70,195,776 (GRCm39)	T168A	possibly damaging	Het
Kcnk12	C	T	17: 88,054,195 (GRCm39)	G156R	probably damaging	Het
Kntc1	T	A	5: 123,902,283 (GRCm39)	S309T	probably damaging	Het
Lcp1	T	A	14: 75,464,533 (GRCm39)		probably null	Het
Neo1	A	G	9: 58,788,082 (GRCm39)	C1324R	possibly damaging	Het
Nin	G	A	12: 70,103,532 (GRCm39)	T236I	probably damaging	Het
Npy6r	A	G	18: 44,408,585 (GRCm39)	E2G	probably benign	Het
Numa1	T	C	7: 101,650,778 (GRCm39)	V136A	probably benign	Het
Pcdhb8	A	G	18: 37,490,253 (GRCm39)	K644E	probably damaging	Het
Polr3h	T	A	15: 81,806,697 (GRCm39)	N41Y	probably damaging	Het
Prrx1	T	C	1: 163,089,531 (GRCm39)	T99A	probably damaging	Het
Prss1l	T	A	6: 41,374,091 (GRCm39)	V231D	probably damaging	Het
Rbm18	G	A	2: 36,024,184 (GRCm39)	R26*	probably null	Het
Repin1	G	T	6: 48,574,887 (GRCm39)		probably benign	Het
Rnase1	T	C	14: 51,383,079 (GRCm39)	N92D	probably benign	Het
Sidt1	A	T	16: 44,063,906 (GRCm39)	C782*	probably null	Het
Slc27a6	T	A	18: 58,689,836 (GRCm39)	S101T	probably benign	Het
Stard9	A	G	2: 120,532,328 (GRCm39)	N2862D	possibly damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tril	A	G	6: 53,796,023 (GRCm39)	Y400H	probably damaging	Het
Trim34b	T	C	7: 103,979,106 (GRCm39)	C118R	probably damaging	Het
Vwa7	T	C	17: 35,243,918 (GRCm39)	V784A	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
IGL01726:Clip2	APN	5	134,551,518 (GRCm39)	missense	probably damaging	1.00
IGL01833:Clip2	APN	5	134,526,938 (GRCm39)	splice site	probably benign
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

2013-06-21