Incidental Mutation 'R4294:Clip2'
ID 323210
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 041083-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R4294 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 134518237-134581288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 134521167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 957 (V957G)
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: V957G

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146
AA Change: V957G

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: V992G

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: V992G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (44/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik A T 19: 21,576,113 (GRCm39) probably null Het
Abca3 A G 17: 24,619,543 (GRCm39) I960M possibly damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Bsnd C T 4: 106,342,355 (GRCm39) R271H probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dlc1 A G 8: 37,051,907 (GRCm39) V608A possibly damaging Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Dock3 T A 9: 106,807,242 (GRCm39) R1362W probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gimap8 A T 6: 48,635,891 (GRCm39) H552L probably benign Het
Gpr151 T C 18: 42,711,602 (GRCm39) T359A probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Magel2 T G 7: 62,028,515 (GRCm39) V473G possibly damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Nat8f1 T C 6: 85,887,637 (GRCm39) T108A probably benign Het
Nphp3 T A 9: 103,899,916 (GRCm39) L502Q probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Otud7a A G 7: 63,346,939 (GRCm39) D171G probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Rpl27-ps3 T A 18: 6,332,607 (GRCm39) probably null Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgsm1 A G 5: 113,433,270 (GRCm39) Y182H probably damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Thrb C T 14: 18,011,145 (GRCm38) Q174* probably null Het
Ticam1 A G 17: 56,578,339 (GRCm39) I252T probably benign Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Trpv1 C T 11: 73,131,290 (GRCm39) A276V probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r74 T A 7: 85,606,624 (GRCm39) I241F 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
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'- GGCAGCAATTCCTTTTCAGAC -3'
(R):5'- AGCTCCACTTAGAAAGCAGG -3'

Sequencing Primer
(F):5'- CAGCAATTCCTTTTCAGACTGGGG -3'
(R):5'- CTTAGAAAGCAGGCGGGGC -3'
Posted On 2015-06-20