Incidental Mutation 'R0152:Clip3'
ID 22779
Institutional Source Beutler Lab
Gene Symbol Clip3
Ensembl Gene ENSMUSG00000013921
Gene Name CAP-GLY domain containing linker protein 3
Synonyms 1500005P14Rik
MMRRC Submission 038435-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.842) question?
Stock # R0152 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 29991153-30007792 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30002857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 416 (A416T)
Ref Sequence ENSEMBL: ENSMUSP00000014065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014065]
AlphaFold B9EHT4
PDB Structure Solution structure of the 2nd CAP-Gly domain in mouse CLIP170-related 59kDa protein CLIPR-59 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000014065
AA Change: A416T

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000014065
Gene: ENSMUSG00000013921
AA Change: A416T

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
ANK 117 155 1.04e2 SMART
ANK 160 191 3.74e0 SMART
ANK 197 226 3.54e-1 SMART
CAP_GLY 296 361 2.16e-33 SMART
low complexity region 367 379 N/A INTRINSIC
low complexity region 387 408 N/A INTRINSIC
CAP_GLY 418 483 1.4e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132844
Meta Mutation Damage Score 0.0591 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 87% (40/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired phrenic nerve-elicited muscle contraction, defects in diaphragm innervation, altered neuromuscular junction stability, abnormal motor innervation of other muscles, and complete neonatal lethality due to respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,688 (GRCm39) D834G probably damaging Het
Abca13 T A 11: 9,531,724 (GRCm39) H4650Q probably damaging Het
Aqr T A 2: 113,989,491 (GRCm39) T111S probably benign Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgap44 G T 11: 64,902,745 (GRCm39) A574E probably benign Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Car5a T A 8: 122,643,185 (GRCm39) N273I probably damaging Het
Cd4 G A 6: 124,844,709 (GRCm39) Q359* probably null Het
Cgrrf1 G A 14: 47,091,370 (GRCm39) C298Y probably damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif3e G A 15: 43,115,632 (GRCm39) A378V possibly damaging Het
Ercc6 C G 14: 32,268,862 (GRCm39) probably benign Het
Eri2 A G 7: 119,389,606 (GRCm39) V104A probably damaging Het
Exph5 T A 9: 53,264,504 (GRCm39) probably null Het
Hmcn1 A T 1: 150,539,630 (GRCm39) Y2954N probably benign Het
Itga2 C T 13: 115,002,850 (GRCm39) G547R probably benign Het
Kbtbd11 T C 8: 15,077,428 (GRCm39) V9A probably damaging Het
Ldb2 T C 5: 44,699,141 (GRCm39) D99G possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Mgarp T C 3: 51,296,384 (GRCm39) D228G probably benign Het
Myh14 A T 7: 44,272,605 (GRCm39) L1441Q probably damaging Het
Obscn T C 11: 58,943,402 (GRCm39) D4810G probably benign Het
Or10ak9 T A 4: 118,726,083 (GRCm39) I34N possibly damaging Het
Or14c40 A T 7: 86,313,719 (GRCm39) Y283F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b12 A G 19: 12,897,472 (GRCm39) V67A possibly damaging Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdhx A G 2: 102,858,625 (GRCm39) V393A probably benign Het
Pdpk1 C T 17: 24,325,920 (GRCm39) R92H possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc26a4 T C 12: 31,579,497 (GRCm39) I588M probably damaging Het
Slc9a2 A G 1: 40,781,964 (GRCm39) T398A probably damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Usp3 T C 9: 66,447,432 (GRCm39) T181A probably damaging Het
Vars2 A G 17: 35,970,919 (GRCm39) L637P probably damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Zbtb38 T C 9: 96,568,333 (GRCm39) Y917C probably damaging Het
Zfp68 T C 5: 138,604,875 (GRCm39) K445E probably damaging Het
Zmynd10 A G 9: 107,428,144 (GRCm39) probably null Het
Other mutations in Clip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Clip3 APN 7 29,996,494 (GRCm39) splice site probably benign
IGL01642:Clip3 APN 7 29,998,287 (GRCm39) missense probably benign 0.11
IGL03004:Clip3 APN 7 29,991,789 (GRCm39) missense probably damaging 1.00
R1474:Clip3 UTSW 7 29,998,307 (GRCm39) missense possibly damaging 0.57
R1778:Clip3 UTSW 7 29,996,861 (GRCm39) missense probably damaging 1.00
R5024:Clip3 UTSW 7 29,991,644 (GRCm39) unclassified probably benign
R5561:Clip3 UTSW 7 29,998,274 (GRCm39) missense possibly damaging 0.93
R5908:Clip3 UTSW 7 29,996,298 (GRCm39) missense probably damaging 0.99
R5912:Clip3 UTSW 7 29,998,295 (GRCm39) missense probably benign 0.22
R5941:Clip3 UTSW 7 29,991,731 (GRCm39) missense probably damaging 1.00
R7283:Clip3 UTSW 7 30,005,237 (GRCm39) missense probably damaging 1.00
R7471:Clip3 UTSW 7 30,001,377 (GRCm39) missense possibly damaging 0.89
R7516:Clip3 UTSW 7 29,998,268 (GRCm39) missense possibly damaging 0.90
R9259:Clip3 UTSW 7 29,998,375 (GRCm39) missense probably benign 0.31
Z1176:Clip3 UTSW 7 29,998,263 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTTTGCTGTCTGGTCACACTAGGG -3'
(R):5'- ACACAGAGCCGTCATGTTTGCC -3'

Sequencing Primer
(F):5'- CACACTAGGGATTGTATTCAGGACTC -3'
(R):5'- GTCCAGCTCGATGCCATAC -3'
Posted On 2013-04-16