Mutagenetix > Incidental Mutation

Incidental Mutation 'R5235:Clip2'

398293

Institutional Source

Beutler Lab

Gene Symbol

Clip2

Ensembl Gene

ENSMUSG00000063146

Gene Name

CAP-GLY domain containing linker protein 2

Synonyms

Cyln2, WSCR4, CLIP-115

MMRRC Submission

042807-MU

Accession Numbers

Essential gene?

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

Stock #

R5235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134518237-134581288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134551645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 159 (T159M)

Ref Sequence

ENSEMBL: ENSMUSP00000098212 (fasta)

Gene Model

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

AlphaFold

Q9Z0H8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036999
AA Change: T159M

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146
AA Change: T159M

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: T159M

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: T159M

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: ENSMUST00000202895

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	A	7: 41,274,256 (GRCm39)	H126Q	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aga	A	G	8: 53,967,361 (GRCm39)	H124R	probably damaging	Het
Ank1	G	A	8: 23,572,212 (GRCm39)	G49R	probably damaging	Het
Aox1	G	T	1: 58,096,714 (GRCm39)	V270L	possibly damaging	Het
Arfrp1	T	C	2: 181,001,298 (GRCm39)	H145R	probably benign	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atg3	A	G	16: 44,979,520 (GRCm39)	T20A	probably benign	Het
C3ar1	A	G	6: 122,827,881 (GRCm39)	L112P	probably damaging	Het
Csmd3	T	C	15: 47,492,674 (GRCm39)	T3156A	probably benign	Het
Dag1	T	C	9: 108,084,897 (GRCm39)	Y748C	probably damaging	Het
Dek	A	T	13: 47,239,955 (GRCm39)		probably null	Het
Fras1	G	A	5: 96,748,609 (GRCm39)	V695M	probably benign	Het
Gpx7	A	G	4: 108,258,189 (GRCm39)	S135P	probably damaging	Het
Ido2	A	T	8: 25,037,202 (GRCm39)	I168N	probably damaging	Het
Lca5	A	T	9: 83,305,107 (GRCm39)	L233*	probably null	Het
Liph	A	C	16: 21,802,785 (GRCm39)	L95V	probably damaging	Het
Mast1	A	T	8: 85,640,068 (GRCm39)	L1113Q	probably damaging	Het
Nlrx1	C	T	9: 44,175,047 (GRCm39)	G243D	probably damaging	Het
Or4ac1-ps1	G	A	2: 88,370,769 (GRCm39)		noncoding transcript	Het
Or5d40	T	A	2: 88,015,912 (GRCm39)	D230E	probably benign	Het
Otoa	T	C	7: 120,755,693 (GRCm39)	L1033P	probably damaging	Het
Ovol3	A	T	7: 29,932,899 (GRCm39)	Y179N	possibly damaging	Het
Papss2	A	G	19: 32,616,619 (GRCm39)	N215S	probably benign	Het
Pcdhga8	T	C	18: 37,860,488 (GRCm39)	Y515H	probably damaging	Het
Phlda1	CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC	CCAGCCCCAACCTCAGCCCCAACC	10: 111,343,252 (GRCm39)		probably benign	Het
Scn2a	A	T	2: 65,582,355 (GRCm39)	N1568Y	probably damaging	Het
Sec16b	A	T	1: 157,362,334 (GRCm39)	I251F	probably benign	Het
Slc29a4	T	A	5: 142,704,523 (GRCm39)	I355N	probably damaging	Het
Snx29	G	T	16: 11,231,110 (GRCm39)	C39F	possibly damaging	Het
Spata16	A	G	3: 26,721,781 (GRCm39)	M101V	probably benign	Het
Stat2	T	C	10: 128,126,901 (GRCm39)		probably null	Het
Tdpoz8	A	G	3: 92,981,393 (GRCm39)	D137G	probably damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Tpm3	A	G	3: 89,993,802 (GRCm39)	E97G	probably damaging	Het
Ugt8a	A	C	3: 125,661,129 (GRCm39)	H454Q	probably damaging	Het
Vmn2r27	T	A	6: 124,169,013 (GRCm39)	I706L	probably damaging	Het
Wdfy3	T	C	5: 101,994,972 (GRCm39)	I3256V	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTACCAGCACACGGTCTC -3'
(R):5'- GATGACTTCCTGGGAGACTTTG -3'

Sequencing Primer
(F):5'- CAGGTGGAGGTCCTTGTCAC -3'
(R):5'- TGCAGTACCTGGGTGAGACAC -3'

Posted On

2016-07-06