Incidental Mutation 'R5912:Clip3'
ID 461056
Institutional Source Beutler Lab
Gene Symbol Clip3
Ensembl Gene ENSMUSG00000013921
Gene Name CAP-GLY domain containing linker protein 3
Synonyms 1500005P14Rik
MMRRC Submission 044109-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # R5912 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 29991153-30007792 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 29998295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 247 (D247A)
Ref Sequence ENSEMBL: ENSMUSP00000014065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014065] [ENSMUST00000126216] [ENSMUST00000144508] [ENSMUST00000150892]
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: D247A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000014065
Gene: ENSMUSG00000013921
AA Change: D247A

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 probably benign
Transcript: ENSMUST00000126216
SMART Domains Protein: ENSMUSP00000123660
Gene: ENSMUSG00000013921

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144508
SMART Domains Protein: ENSMUSP00000121276
Gene: ENSMUSG00000013921

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150892
SMART Domains Protein: ENSMUSP00000123164
Gene: ENSMUSG00000013921

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
SCOP:d1sw6a_ 102 129 4e-3 SMART
Meta Mutation Damage Score 0.2175 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,897 (GRCm39) C166S possibly damaging Het
Ahnak T A 19: 8,989,267 (GRCm39) M3517K probably damaging Het
Asap2 T C 12: 21,256,344 (GRCm39) V214A probably damaging Het
Atp13a4 A G 16: 29,275,389 (GRCm39) V365A probably benign Het
Bivm G T 1: 44,165,573 (GRCm39) G8* probably null Het
Cc2d2a A C 5: 43,877,772 (GRCm39) D1043A probably damaging Het
Cdh2 A C 18: 16,773,507 (GRCm39) I331S possibly damaging Het
Csf3r A T 4: 125,923,753 (GRCm39) I88F probably damaging Het
Cyp2j13 A T 4: 95,945,079 (GRCm39) N316K probably damaging Het
Dnah12 T A 14: 26,491,965 (GRCm39) C1133* probably null Het
Glud1 G A 14: 34,033,300 (GRCm39) probably null Het
Gm5805 A G 15: 81,857,018 (GRCm39) noncoding transcript Het
Gsg1l2 G T 11: 67,665,540 (GRCm39) probably null Het
Ikzf1 C A 11: 11,698,464 (GRCm39) S105* probably null Het
Kif18b A G 11: 102,803,817 (GRCm39) S448P probably benign Het
Klhl31 C A 9: 77,563,012 (GRCm39) N592K probably damaging Het
Kmt2c A G 5: 25,552,467 (GRCm39) F1239L possibly damaging Het
Lama5 A G 2: 179,837,268 (GRCm39) Y1014H probably damaging Het
Macf1 A C 4: 123,290,951 (GRCm39) L3980R probably damaging Het
Magi1 A T 6: 93,685,126 (GRCm39) S524T possibly damaging Het
Nlrp4f A T 13: 65,342,722 (GRCm39) Y308N probably damaging Het
Or1e33 A C 11: 73,738,501 (GRCm39) I150R possibly damaging Het
Or3a1c A T 11: 74,046,046 (GRCm39) E22V possibly damaging Het
Rfx5 G A 3: 94,866,029 (GRCm39) probably benign Het
Scn1b C T 7: 30,817,228 (GRCm39) V165M probably damaging Het
Sema4c A C 1: 36,593,469 (GRCm39) V41G possibly damaging Het
Serpini1 G T 3: 75,523,914 (GRCm39) G174V probably benign Het
Sh2b1 T C 7: 126,070,642 (GRCm39) E353G probably damaging Het
Slc7a6 G T 8: 106,906,289 (GRCm39) V174L probably benign Het
Smg1 A T 7: 117,753,809 (GRCm39) probably benign Het
Spag9 A G 11: 93,935,251 (GRCm39) N21D probably damaging Het
Spdye4c C T 2: 128,437,994 (GRCm39) R245* probably null Het
Sulf1 A G 1: 12,856,976 (GRCm39) probably benign Het
Swt1 A G 1: 151,287,160 (GRCm39) S111P probably damaging Het
Syne2 G A 12: 75,955,721 (GRCm39) probably null Het
Tanc1 T C 2: 59,622,030 (GRCm39) V383A possibly damaging Het
Tbc1d10b G T 7: 126,799,033 (GRCm39) A491E probably damaging Het
Tek A G 4: 94,686,877 (GRCm39) T132A probably damaging Het
Traf3 A G 12: 111,221,783 (GRCm39) I290V probably benign Het
Traf5 A G 1: 191,730,030 (GRCm39) probably benign Het
Ttn A T 2: 76,640,687 (GRCm39) I13687N probably damaging Het
Unc5c A G 3: 141,494,767 (GRCm39) D415G probably damaging Het
Ust A G 10: 8,173,825 (GRCm39) Y227H probably benign Het
Vmn2r100 A G 17: 19,752,071 (GRCm39) N705D probably damaging Het
Wnk2 T C 13: 49,214,250 (GRCm39) E1444G probably damaging Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb5 A G 4: 44,993,750 (GRCm39) S545P probably benign Het
Zfp710 A G 7: 79,731,222 (GRCm39) D133G probably benign Het
Zfp866 A T 8: 70,218,934 (GRCm39) C229S probably benign 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
R0152:Clip3 UTSW 7 30,002,857 (GRCm39) missense probably benign 0.15
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
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'- CAGGTCACATCTGCATCTTTAC -3'
(R):5'- CATCAAGGAGCACTCTGTCTC -3'

Sequencing Primer
(F):5'- CTCTTCCCAAATTGACGTAGAGTG -3'
(R):5'- TCAAGGAGCACTCTGTCTCCTAGG -3'
Posted On 2017-02-28