Incidental Mutation 'R2011:Clip2'
ID 219663
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 040020-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R2011 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 134518237-134581288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134531969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 612 (D612G)
Ref Sequence ENSEMBL: ENSMUSP00000098212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036999] [ENSMUST00000100647]
AlphaFold Q9Z0H8
Predicted Effect probably damaging
Transcript: ENSMUST00000036999
AA Change: D577G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146
AA Change: D577G

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: D612G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: D612G

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 A T 14: 8,042,742 (GRCm38) T100S probably benign Het
Adam6a T C 12: 113,508,998 (GRCm39) I457T probably benign Het
Aff3 T C 1: 38,246,996 (GRCm39) N863S probably benign Het
Agk C A 6: 40,353,168 (GRCm39) D177E probably benign Het
Alg9 C T 9: 50,699,500 (GRCm39) A209V probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Bpi A T 2: 158,103,272 (GRCm39) H89L probably damaging Het
C1qtnf1 T A 11: 118,339,110 (GRCm39) F260Y probably benign Het
Cblc T A 7: 19,518,747 (GRCm39) D452V probably benign Het
Ccar1 T C 10: 62,612,473 (GRCm39) T231A probably benign Het
Ccdc112 A G 18: 46,420,499 (GRCm39) L417P probably damaging Het
Ccdc34 G A 2: 109,874,649 (GRCm39) R336Q possibly damaging Het
CK137956 A G 4: 127,844,829 (GRCm39) S305P probably benign Het
Col28a1 T C 6: 8,059,360 (GRCm39) T692A probably benign Het
Copg2 A T 6: 30,793,676 (GRCm39) probably null Het
Ctnna2 T A 6: 76,950,774 (GRCm39) I566F possibly damaging Het
Cux2 C T 5: 121,999,389 (GRCm39) D1184N probably benign Het
Dclk3 A G 9: 111,297,422 (GRCm39) E322G probably benign Het
Ddx41 A T 13: 55,681,906 (GRCm39) probably null Het
Dnaaf2 G A 12: 69,243,559 (GRCm39) P107S probably damaging Het
Eif2ak4 A G 2: 118,261,428 (GRCm39) E578G probably damaging Het
Exd1 A G 2: 119,359,144 (GRCm39) probably benign Het
Fat2 G A 11: 55,173,583 (GRCm39) P2377S probably damaging Het
Fbxl18 T C 5: 142,858,214 (GRCm39) T741A probably benign Het
Fgr C A 4: 132,724,832 (GRCm39) A311E probably damaging Het
Fmo4 T C 1: 162,626,458 (GRCm39) T363A probably damaging Het
Fsbp T C 4: 11,584,006 (GRCm39) V235A probably benign Het
Gm1110 T A 9: 26,805,554 (GRCm39) H366L probably benign Het
Gm43302 T C 5: 105,438,846 (GRCm39) N14S probably damaging Het
Gm5422 A G 10: 31,124,764 (GRCm39) noncoding transcript Het
Gm57858 A T 3: 36,064,827 (GRCm39) C515* probably null Het
Gpr21 A G 2: 37,407,547 (GRCm39) E31G probably damaging Het
Gucy1b2 G T 14: 62,646,207 (GRCm39) N560K probably damaging Het
Hmcn1 T C 1: 150,553,085 (GRCm39) Q2535R probably benign Het
Hnrnpm A T 17: 33,883,598 (GRCm39) N264K probably damaging Het
Hyal6 A T 6: 24,734,723 (GRCm39) I219L possibly damaging Het
Ifi211 A G 1: 173,735,169 (GRCm39) S87P probably damaging Het
Il17rb A T 14: 29,718,797 (GRCm39) C428* probably null Het
Iqca1 T C 1: 89,973,348 (GRCm39) N808S probably benign Het
Kcnu1 A G 8: 26,408,470 (GRCm39) I94V probably benign Het
Lrba A T 3: 86,217,324 (GRCm39) E517V probably damaging Het
Mcidas A G 13: 113,130,515 (GRCm39) E37G possibly damaging Het
Med23 T A 10: 24,755,653 (GRCm39) F83L possibly damaging Het
Micu2 T C 14: 58,191,590 (GRCm39) probably null Het
Mrgprx2 A T 7: 48,132,282 (GRCm39) C179S probably damaging Het
Myo6 A G 9: 80,215,004 (GRCm39) T1236A probably damaging Het
Myo7a A T 7: 97,703,915 (GRCm39) V1946E possibly damaging Het
Nek10 A T 14: 14,885,122 (GRCm38) Y695F probably damaging Het
Nr3c2 A T 8: 77,636,422 (GRCm39) I508F possibly damaging Het
Or11g27 T C 14: 50,771,141 (GRCm39) S91P probably damaging Het
Or14a260 A T 7: 85,984,955 (GRCm39) Y216* probably null Het
Or2ag13 T C 7: 106,472,634 (GRCm39) I273V probably benign Het
Or5w1b A T 2: 87,476,233 (GRCm39) I78N probably damaging Het
Or8k23 A T 2: 86,186,530 (GRCm39) H65Q possibly damaging Het
Or9s13 T C 1: 92,548,471 (GRCm39) V281A probably benign Het
Oxct1 T C 15: 4,183,243 (GRCm39) S485P probably benign Het
Oxt A G 2: 130,418,572 (GRCm39) D61G probably damaging Het
P2ry10 A C X: 106,146,241 (GRCm39) I59L probably damaging Het
Parp11 A G 6: 127,454,854 (GRCm39) N124S probably benign Het
Pcdh7 T A 5: 57,876,971 (GRCm39) N175K probably damaging Het
Pdgfrb T A 18: 61,194,566 (GRCm39) S114R probably benign Het
Pfdn5 A G 15: 102,234,956 (GRCm39) N54S possibly damaging Het
Phc2 T A 4: 128,617,378 (GRCm39) V468E probably benign Het
Piezo2 T C 18: 63,192,815 (GRCm39) T1605A probably damaging Het
Pik3cb A T 9: 98,987,632 (GRCm39) Y35* probably null Het
Piwil2 A T 14: 70,664,083 (GRCm39) M22K probably damaging Het
Plag1 A G 4: 3,904,889 (GRCm39) F101L probably damaging Het
Pomt2 A G 12: 87,158,173 (GRCm39) L680P possibly damaging Het
Ppp1r36 A G 12: 76,465,700 (GRCm39) probably null Het
Prkag2 C T 5: 25,076,052 (GRCm39) probably null Het
Prkg1 T C 19: 31,641,542 (GRCm39) D47G possibly damaging Het
Prl6a1 G A 13: 27,499,352 (GRCm39) G45D probably benign Het
Rbm20 G A 19: 53,847,859 (GRCm39) C1135Y probably damaging Het
Recql5 A T 11: 115,787,923 (GRCm39) N465K probably benign Het
Rlig1 T G 10: 100,419,820 (GRCm39) D58A probably damaging Het
Rtcb A T 10: 85,777,797 (GRCm39) I459N probably damaging Het
Rtp3 A T 9: 110,815,102 (GRCm39) probably benign Het
Rundc3b T A 5: 8,562,409 (GRCm39) probably null Het
Scube3 A G 17: 28,387,132 (GRCm39) T877A probably damaging Het
Sh2d4a A T 8: 68,799,394 (GRCm39) Q421L probably benign Het
Siglec1 A T 2: 130,925,277 (GRCm39) Y395N probably damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Slco1c1 T A 6: 141,500,833 (GRCm39) F437L probably benign Het
Slco3a1 G A 7: 73,996,419 (GRCm39) A329V probably benign Het
Spag9 T A 11: 93,983,201 (GRCm39) L504* probably null Het
Spen A T 4: 141,200,640 (GRCm39) N2662K probably damaging Het
Sptb G C 12: 76,679,246 (GRCm39) R70G possibly damaging Het
Stk3 A G 15: 35,072,644 (GRCm39) S136P probably damaging Het
Synj1 A T 16: 90,735,584 (GRCm39) F1456L probably damaging Het
Tbx5 T C 5: 119,979,971 (GRCm39) probably null Het
Tchh G A 3: 93,354,268 (GRCm39) R1236Q unknown Het
Timd4 C A 11: 46,710,857 (GRCm39) T253K possibly damaging Het
Tmc6 A G 11: 117,660,232 (GRCm39) Y669H probably damaging Het
Tmem151a C T 19: 5,132,966 (GRCm39) R80H probably benign Het
Tpgs1 T C 10: 79,511,722 (GRCm39) L288P probably damaging Het
Trhde T C 10: 114,334,698 (GRCm39) I659V probably benign Het
Trpm7 A T 2: 126,665,917 (GRCm39) Y896* probably null Het
Ttc5 C A 14: 51,019,007 (GRCm39) E37* probably null Het
Uvrag A G 7: 98,589,096 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,283 (GRCm39) D159V probably damaging Het
Vmn2r78 G A 7: 86,604,287 (GRCm39) V822M possibly damaging Het
Vnn1 C A 10: 23,770,869 (GRCm39) Y32* probably null Het
Wrn A G 8: 33,726,432 (GRCm39) V1380A probably benign Het
Zc3h14 A C 12: 98,746,527 (GRCm39) S579R possibly damaging Het
Zfp277 G A 12: 40,367,217 (GRCm39) Q480* probably null Het
Zfp456 G A 13: 67,514,993 (GRCm39) Q238* probably null Het
Zranb3 T A 1: 128,019,638 (GRCm39) T35S 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
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
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'- GCAGGTTACCTAACTCCAGCTG -3'
(R):5'- AACACTGTCTCCTCCAGTCAGG -3'

Sequencing Primer
(F):5'- GCTGGTGCTCCATCTTGATGC -3'
(R):5'- AGAGGCCGCTGAGACTTTG -3'
Posted On 2014-08-25