Incidental Mutation 'R6464:Clip2'
ID 517730
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 044597-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R6464 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 134518237-134581288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134520779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 999 (I999V)
Ref Sequence ENSEMBL: ENSMUSP00000037431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036999] [ENSMUST00000100647]
AlphaFold Q9Z0H8
Predicted Effect probably benign
Transcript: ENSMUST00000036999
AA Change: I999V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146
AA Change: I999V

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
AA Change: I1034V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: I1034V

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,265,354 (GRCm39) S769T probably damaging Het
Apoe G A 7: 19,431,461 (GRCm39) T52M probably damaging Het
Arhgef10l A C 4: 140,314,126 (GRCm39) M230R probably benign Het
Cdkl4 A T 17: 80,832,781 (GRCm39) I321N probably benign Het
Ceacam5 T C 7: 17,481,391 (GRCm39) probably null Het
Cfap70 T C 14: 20,451,107 (GRCm39) probably null Het
Clasp2 A G 9: 113,602,785 (GRCm39) Y195C probably damaging Het
Cntnap5a A G 1: 116,112,138 (GRCm39) D476G probably benign Het
Col6a6 C T 9: 105,666,152 (GRCm39) M1I probably null Het
Cyp27a1 T C 1: 74,775,047 (GRCm39) V292A possibly damaging Het
Cyp2c29 A G 19: 39,317,669 (GRCm39) Y385C probably damaging Het
Dsg3 A C 18: 20,666,583 (GRCm39) R597S probably benign Het
Fam131c T C 4: 141,109,653 (GRCm39) I95T probably damaging Het
Fam13b A T 18: 34,606,684 (GRCm39) C302* probably null Het
Fkbp15 T C 4: 62,226,315 (GRCm39) K745E possibly damaging Het
Flg T A 3: 93,188,688 (GRCm39) probably benign Het
Gm11559 T C 11: 99,755,542 (GRCm39) C64R unknown Het
Helt T C 8: 46,745,571 (GRCm39) D104G probably damaging Het
Helz2 T C 2: 180,876,862 (GRCm39) T1211A probably benign Het
Ifna9 T C 4: 88,510,487 (GRCm39) R46G possibly damaging Het
Kif20b G A 19: 34,911,841 (GRCm39) V235I probably benign Het
Kif7 A G 7: 79,363,842 (GRCm39) V22A possibly damaging Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lipf A T 19: 33,950,944 (GRCm39) Y305F probably benign Het
Lpar1 A G 4: 58,486,875 (GRCm39) L132P possibly damaging Het
Magi1 A T 6: 93,676,770 (GRCm39) V834E probably damaging Het
Meltf T C 16: 31,709,594 (GRCm39) Y432H probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Myo1f T C 17: 33,795,621 (GRCm39) L59P probably damaging Het
Naa25 G A 5: 121,556,024 (GRCm39) D271N probably damaging Het
Or10ag55-ps1 A T 2: 87,139,951 (GRCm39) I273F probably damaging Het
Or8u3-ps A T 2: 85,952,752 (GRCm39) I162F possibly damaging Het
Otoa A G 7: 120,701,828 (GRCm39) Q169R probably damaging Het
Pde4dip C T 3: 97,617,660 (GRCm39) D1723N probably damaging Het
Ptdss2 T C 7: 140,732,124 (GRCm39) V175A probably damaging Het
Rdh8 G T 9: 20,734,696 (GRCm39) R121L probably damaging Het
Rpl23 T C 11: 97,669,111 (GRCm39) probably null Het
Scn5a T C 9: 119,363,646 (GRCm39) D498G probably damaging Het
Slc39a14 G C 14: 70,544,177 (GRCm39) L470V probably damaging Het
Smok2a C T 17: 13,445,317 (GRCm39) A298V probably damaging Het
Tesk2 A C 4: 116,660,046 (GRCm39) D388A probably damaging Het
Tnik G A 3: 28,666,119 (GRCm39) probably null Het
Ube3a T A 7: 58,925,931 (GRCm39) Y236* probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vinac1 T C 2: 128,881,465 (GRCm39) T154A possibly damaging Het
Vmn1r74 A T 7: 11,581,131 (GRCm39) I144L possibly damaging Het
Vmn2r1 G A 3: 64,008,766 (GRCm39) D482N probably benign Het
Vwf T C 6: 125,616,363 (GRCm39) probably null Het
Wdr97 A G 15: 76,246,977 (GRCm39) T1413A probably benign Het
Zfp703 C G 8: 27,469,355 (GRCm39) P340A probably damaging Het
Znfx1 T C 2: 166,888,842 (GRCm39) S789G probably benign Het
Other mutations in Clip2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ATGGGATATACCAGTGCTAGAATC -3'
(R):5'- GTCCTTGAAACCCCAGTCTG -3'

Sequencing Primer
(F):5'- TACCAGTGCTAGAATCTTCCTAAGC -3'
(R):5'- TCTGAAAAGGAATTGCTGCCCTG -3'
Posted On 2018-05-21