Incidental Mutation 'R9657:Clip2'
ID 727384
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R9657 (G1)
Quality Score 132.008
Status Not validated
Chromosome 5
Chromosomal Location 134518237-134581288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134533616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 487 (R487Q)
Ref Sequence ENSEMBL: ENSMUSP00000098212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036999] [ENSMUST00000100647]
AlphaFold Q9Z0H8
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
AA Change: R487Q

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: R487Q

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,243,379 (GRCm39) D1747E probably benign Het
Acad11 T A 9: 103,953,035 (GRCm39) I88N possibly damaging Het
Atp2b4 T C 1: 133,656,478 (GRCm39) E724G probably damaging Het
Bcl2a1b T C 9: 89,081,599 (GRCm39) S63P probably damaging Het
Blzf1 T C 1: 164,134,023 (GRCm39) S9G probably benign Het
Ccdc121rt1 T C 1: 181,338,104 (GRCm39) T283A probably benign Het
Cdh22 T C 2: 164,965,715 (GRCm39) D488G probably benign Het
Cep290 A G 10: 100,351,003 (GRCm39) E688G possibly damaging Het
Cldn10 A C 14: 119,025,781 (GRCm39) E71D probably benign Het
Cyp3a16 T C 5: 145,386,979 (GRCm39) D337G probably null Het
Dnah5 A T 15: 28,410,089 (GRCm39) D3654V probably damaging Het
Dock1 T C 7: 134,339,429 (GRCm39) S100P possibly damaging Het
Hdgfl2 T C 17: 56,405,978 (GRCm39) V488A unknown Het
Itih2 T C 2: 10,107,686 (GRCm39) T627A probably damaging Het
Katnip A G 7: 125,441,956 (GRCm39) S648G probably benign Het
Klhl33 T C 14: 51,134,117 (GRCm39) D144G probably benign Het
Lca5l G A 16: 95,974,953 (GRCm39) Q324* probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mical2 A G 7: 111,921,806 (GRCm39) T542A probably benign Het
Moxd1 T A 10: 24,128,485 (GRCm39) V179E probably benign Het
Myh7b A G 2: 155,455,963 (GRCm39) Y116C probably damaging Het
Myoc C T 1: 162,467,229 (GRCm39) R133* probably null Het
Nol3 A T 8: 106,005,641 (GRCm39) I12F probably damaging Het
Nrap A G 19: 56,352,377 (GRCm39) V605A probably benign Het
Or5w13 T C 2: 87,524,121 (GRCm39) Y35C probably damaging Het
Or9m2 A C 2: 87,821,310 (GRCm39) N285T probably damaging Het
Pag1 G T 3: 9,769,791 (GRCm39) S52R probably damaging Het
Pbxip1 A G 3: 89,355,056 (GRCm39) D525G probably benign Het
Pla2g4f A G 2: 120,135,138 (GRCm39) F437L probably benign Het
Podn A C 4: 107,884,231 (GRCm39) I86S probably damaging Het
Postn A G 3: 54,290,820 (GRCm39) T676A probably benign Het
Ppp1r1c A G 2: 79,638,718 (GRCm39) E104G probably benign Het
Prss53 T C 7: 127,486,238 (GRCm39) T436A probably damaging Het
Psme4 A T 11: 30,788,980 (GRCm39) E1127D probably benign Het
Ptpn18 C A 1: 34,512,473 (GRCm39) A426E possibly damaging Het
Ptprz1 T G 6: 23,042,377 (GRCm39) C2044G possibly damaging Het
Rad54l2 C A 9: 106,581,372 (GRCm39) V850L probably damaging Het
Ranbp9 A G 13: 43,557,155 (GRCm39) I28T unknown Het
Rapgef2 A T 3: 78,999,191 (GRCm39) V527E probably damaging Het
Rere C A 4: 150,699,390 (GRCm39) P825T unknown Het
Rundc3a A G 11: 102,291,578 (GRCm39) T349A probably benign Het
Scn2a T C 2: 65,566,032 (GRCm39) F1352S probably damaging Het
Senp7 T A 16: 55,944,295 (GRCm39) C206* probably null Het
Serac1 C T 17: 6,119,658 (GRCm39) V91I probably benign Het
Serpina1f G A 12: 103,656,050 (GRCm39) Q393* probably null Het
Slc8a1 T C 17: 81,955,244 (GRCm39) E598G probably damaging Het
Slmap A T 14: 26,151,013 (GRCm39) H518Q probably benign Het
Spg11 G A 2: 121,910,781 (GRCm39) R1199C probably damaging Het
Tada1 T C 1: 166,214,312 (GRCm39) S104P possibly damaging Het
Tbck A G 3: 132,421,451 (GRCm39) D186G probably damaging Het
Tdrd9 A C 12: 112,002,824 (GRCm39) R824S possibly damaging Het
Tmem161a T C 8: 70,630,260 (GRCm39) probably null Het
Trim55 G A 3: 19,728,671 (GRCm39) G494D possibly damaging Het
Ttc17 T A 2: 94,237,010 (GRCm39) M1L probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ugt3a1 A C 15: 9,280,133 (GRCm39) S32R probably damaging Het
Vgll3 T C 16: 65,636,343 (GRCm39) S220P probably benign Het
Virma A G 4: 11,544,898 (GRCm39) E1569G probably damaging Het
Vmn1r54 C G 6: 90,246,984 (GRCm39) F299L probably benign Het
Vmn2r114 A G 17: 23,510,690 (GRCm39) S597P probably damaging Het
Wdr7 A G 18: 64,057,918 (GRCm39) D1249G probably damaging Het
Wdr97 A G 15: 76,245,476 (GRCm39) Y1271C Het
Yju2b T C 8: 84,987,084 (GRCm39) K138E possibly damaging Het
Ypel4 A G 2: 84,568,068 (GRCm39) Y108C probably damaging Het
Zfp770 A G 2: 114,027,766 (GRCm39) V101A probably damaging Het
Zfyve9 A T 4: 108,575,729 (GRCm39) C451S probably damaging 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
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
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'- TAAATCTCAGCTTCCCTCCCAGAG -3'
(R):5'- CTTGTTCACGGAAGATGACGC -3'

Sequencing Primer
(F):5'- GGGGAGTTCAGAAGGGTCTCC -3'
(R):5'- GAAGATGACGCCTCCTCTC -3'
Posted On 2022-10-06