Incidental Mutation 'IGL00500:Clip2'
ID5531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clip2
Ensembl Gene ENSMUSG00000063146
Gene NameCAP-GLY domain containing linker protein 2
SynonymsWSCR4, Cyln2, CLIP-115
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.287) question?
Stock #IGL00500
Quality Score
Status
Chromosome5
Chromosomal Location134489383-134552434 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 134500157 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,784,344 E576G probably damaging Het
Adnp A G 2: 168,183,323 V684A possibly damaging Het
Agl A G 3: 116,772,820 W965R probably damaging Het
AI467606 G A 7: 127,092,333 V27I probably benign Het
Ankrd34b G A 13: 92,438,787 G176R probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Atp6v1a T C 16: 44,111,583 Q114R probably benign Het
B4galt2 A T 4: 117,877,181 L257Q probably damaging Het
Chrna10 A T 7: 102,112,408 C325* probably null Het
Crocc2 C T 1: 93,217,044 Q1437* probably null Het
Csmd1 C T 8: 15,921,139 V3059M probably damaging Het
Cst10 C A 2: 149,405,581 S72R probably damaging Het
Dapk1 A G 13: 60,760,804 D1077G probably damaging Het
Dhx9 T C 1: 153,465,748 T585A probably damaging Het
Fam210a G A 18: 68,275,783 T152I possibly damaging Het
Fbn1 T A 2: 125,317,516 Q2214L probably damaging Het
Fpr1 T A 17: 17,877,001 Q242L probably benign Het
G2e3 A G 12: 51,353,798 probably null Het
Gcdh C T 8: 84,888,517 probably benign Het
Gm18856 T C 13: 13,965,734 probably benign Het
Itgb2 T A 10: 77,564,724 W724R probably damaging Het
Klhl2 T C 8: 64,749,086 T519A probably benign Het
Krtap12-1 G T 10: 77,720,980 C119F possibly damaging Het
Nrap T A 19: 56,372,909 K369N probably damaging Het
Nrg1 T A 8: 31,822,314 probably null Het
Plekhh3 T A 11: 101,165,693 probably null Het
Ppm1b A G 17: 85,003,284 S289G probably damaging Het
Prol1 A T 5: 88,328,691 *313C probably null Het
Rab40c T C 17: 25,885,085 E111G probably damaging Het
Skint11 T A 4: 114,194,709 C85S probably benign Het
Slc9a2 G A 1: 40,763,583 E598K possibly damaging Het
Slfn8 T A 11: 83,013,484 D360V possibly damaging Het
Sspo C A 6: 48,497,421 C4925* probably null Het
Vps8 A G 16: 21,442,334 T75A possibly damaging Het
Wfdc12 A T 2: 164,190,250 I40N probably damaging Het
Zfp608 T A 18: 54,988,333 T61S probably benign Het
Other mutations in Clip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
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 On2012-04-20