Incidental Mutation 'IGL03269:Clip2'
ID415209
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: 0.338) question?
Stock #IGL03269
Quality Score
Status
Chromosome5
Chromosomal Location134489383-134552434 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 134516894 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 314 (H314Q)
Ref Sequence ENSEMBL: ENSMUSP00000098212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036999] [ENSMUST00000100647]
Predicted Effect probably damaging
Transcript: ENSMUST00000036999
AA Change: H314Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146
AA Change: H314Q

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 damaging
Transcript: ENSMUST00000100647
AA Change: H314Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: H314Q

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T A 2: 27,108,355 C930* probably null Het
Ankar A T 1: 72,665,201 V854E probably damaging Het
Ccdc151 A G 9: 21,998,043 probably null Het
Ceacam3 T A 7: 17,161,842 L579Q probably damaging Het
Fbxo28 A G 1: 182,317,018 V327A possibly damaging Het
Gdap1 T A 1: 17,161,505 F358Y probably benign Het
Ighv1-18 T C 12: 114,682,846 Y46C probably damaging Het
Il1rl2 T A 1: 40,365,312 F531Y probably damaging Het
Irf6 A G 1: 193,162,598 probably benign Het
Ncoa6 T C 2: 155,406,489 T1632A probably damaging Het
Olfr1469 T A 19: 13,411,428 N286K probably damaging Het
Olfr723 T A 14: 49,928,708 T279S probably damaging Het
Olfr902 A G 9: 38,448,901 T10A probably benign Het
Osgepl1 C A 1: 53,321,112 Y332* probably null Het
Pibf1 G A 14: 99,187,735 A553T probably damaging Het
Prpf38b A G 3: 108,905,241 F219L probably benign Het
Pwp1 C A 10: 85,882,904 Q312K probably damaging Het
Rnf17 T C 14: 56,427,946 V185A possibly damaging Het
Serpina3k T C 12: 104,340,521 I4T possibly damaging Het
Slc33a1 A G 3: 63,963,757 V145A probably damaging Het
Slco3a1 T C 7: 74,318,532 D480G possibly damaging Het
Tcrg-V4 T A 13: 19,185,452 I122K probably damaging Het
Tdpoz4 G A 3: 93,796,837 C147Y probably damaging Het
Tlr4 C A 4: 66,840,796 P609T probably damaging Het
Ttc30a2 T C 2: 75,978,135 D11G possibly damaging Het
Unc79 A G 12: 103,088,677 K927E probably damaging Het
Vmn1r71 G A 7: 10,748,644 T39I possibly damaging Het
Vmn2r9 A G 5: 108,847,954 L276P probably damaging Het
Zfp335 C A 2: 164,900,354 R570L probably damaging Het
Other mutations in Clip2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
X0062:Clip2 UTSW 5 134503136 missense probably benign 0.12
Posted On2016-08-02