Incidental Mutation 'R2909:Clic5'
ID 261164
Institutional Source Beutler Lab
Gene Symbol Clic5
Ensembl Gene ENSMUSG00000023959
Gene Name chloride intracellular channel 5
Synonyms 5730531E12Rik, nmf318
MMRRC Submission 040496-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2909 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 44445671-44591059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44586146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 212 (T212P)
Ref Sequence ENSEMBL: ENSMUSP00000024755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024755]
AlphaFold Q8BXK9
Predicted Effect probably benign
Transcript: ENSMUST00000024755
AA Change: T212P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000024755
Gene: ENSMUSG00000023959
AA Change: T212P

DomainStartEndE-ValueType
Pfam:GST_N_3 28 100 2.4e-10 PFAM
Pfam:GST_C_2 90 220 1e-9 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
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 chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit head bobbing and circling behavior, inability to swim, and complete deafness by 7-8 months of age caused by dysmorphic stereocilia and progressive hair cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 G A 2: 158,467,140 (GRCm39) G27R possibly damaging Het
Bltp1 A G 3: 37,002,102 (GRCm39) D1349G probably damaging Het
Chrm3 G T 13: 9,928,033 (GRCm39) D334E probably benign Het
Dapk1 G A 13: 60,864,631 (GRCm39) probably null Het
Dync2h1 A T 9: 7,049,114 (GRCm39) L3262H probably damaging Het
Epg5 G C 18: 78,026,691 (GRCm39) W1227C probably damaging Het
Fancm T C 12: 65,171,630 (GRCm39) S1757P probably damaging Het
Gm3604 G C 13: 62,516,832 (GRCm39) H509D probably benign Het
Gramd4 G T 15: 86,006,384 (GRCm39) E163* probably null Het
Hip1r T A 5: 124,138,656 (GRCm39) probably null Het
Ice1 G T 13: 70,744,292 (GRCm39) T2097K probably damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Kbtbd7 A G 14: 79,665,922 (GRCm39) T585A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 T C 15: 65,897,085 (GRCm39) T272A possibly damaging Het
Ly6l T G 15: 75,321,481 (GRCm39) probably null Het
Minar1 T C 9: 89,473,331 (GRCm39) N860S probably damaging Het
Mrps11 C A 7: 78,438,497 (GRCm39) A83E probably damaging Het
Or1af1 C T 2: 37,110,188 (GRCm39) P229L probably damaging Het
Pax7 T C 4: 139,556,007 (GRCm39) I156V possibly damaging Het
Plbd1 A T 6: 136,611,572 (GRCm39) V235D probably damaging Het
Pml T C 9: 58,154,526 (GRCm39) S76G possibly damaging Het
Ppp1r42 T A 1: 10,073,637 (GRCm39) probably benign Het
Rsl24d1 T C 9: 73,029,585 (GRCm39) L61S probably damaging Het
Rtp2 T C 16: 23,746,235 (GRCm39) E132G probably damaging Het
Sgk1 A G 10: 21,870,715 (GRCm39) I23V probably benign Het
Sharpin A G 15: 76,234,811 (GRCm39) probably benign Het
Sipa1l1 T A 12: 82,404,105 (GRCm39) Y533N probably benign Het
Slc12a9 T C 5: 137,330,463 (GRCm39) I81V probably benign Het
Stxbp5l G A 16: 37,028,548 (GRCm39) T505M possibly damaging Het
Tmem40 A G 6: 115,713,342 (GRCm39) probably null Het
Tnfrsf18 A T 4: 156,112,727 (GRCm39) N138Y probably damaging Het
Vmn2r87 A T 10: 130,314,865 (GRCm39) N240K probably damaging Het
Vmn2r91 A G 17: 18,356,661 (GRCm39) E776G probably damaging Het
Vmn2r92 T A 17: 18,405,377 (GRCm39) N840K possibly damaging Het
Vmn2r98 T C 17: 19,287,664 (GRCm39) I499T probably damaging Het
Other mutations in Clic5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01606:Clic5 APN 17 44,559,633 (GRCm39) missense probably benign 0.00
IGL03196:Clic5 APN 17 44,552,960 (GRCm39) missense possibly damaging 0.59
IGL03394:Clic5 APN 17 44,548,105 (GRCm39) missense probably benign 0.19
R0035:Clic5 UTSW 17 44,586,200 (GRCm39) missense probably damaging 1.00
R0035:Clic5 UTSW 17 44,586,200 (GRCm39) missense probably damaging 1.00
R0375:Clic5 UTSW 17 44,581,510 (GRCm39) missense possibly damaging 0.65
R4541:Clic5 UTSW 17 44,552,956 (GRCm39) missense probably damaging 1.00
R7101:Clic5 UTSW 17 44,586,179 (GRCm39) missense probably benign
R8215:Clic5 UTSW 17 44,586,228 (GRCm39) nonsense probably null
R8904:Clic5 UTSW 17 44,552,992 (GRCm39) missense probably benign 0.17
R8947:Clic5 UTSW 17 44,553,148 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GGCTAGTCTTTCTACCCAGC -3'
(R):5'- TTTATGTTTCCCCAAGGCAATGG -3'

Sequencing Primer
(F):5'- AGCTTCTCTTGGCCATGCTG -3'
(R):5'- TCTGTAGAGCTGAAAGCCATTG -3'
Posted On 2015-01-23