Incidental Mutation 'IGL01505:Clcn5'
ID 89043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcn5
Ensembl Gene ENSMUSG00000004317
Gene Name chloride channel, voltage-sensitive 5
Synonyms 5430408K11Rik, ClC-5, Sfc13, Clcn4-1, Clc5, DXImx42e, Clc4-1, D930009B12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01505
Quality Score
Status
Chromosome X
Chromosomal Location 7020049-7185597 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 7036678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 268 (L268*)
Ref Sequence ENSEMBL: ENSMUSP00000111412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004428] [ENSMUST00000115746] [ENSMUST00000128319]
AlphaFold Q9WVD4
Predicted Effect probably null
Transcript: ENSMUST00000004428
AA Change: L198*
SMART Domains Protein: ENSMUSP00000004428
Gene: ENSMUSG00000004317
AA Change: L198*

DomainStartEndE-ValueType
transmembrane domain 55 77 N/A INTRINSIC
Pfam:Voltage_CLC 149 551 3.6e-105 PFAM
CBS 595 645 2.01e-6 SMART
low complexity region 667 676 N/A INTRINSIC
CBS 686 733 5.73e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115746
AA Change: L268*
SMART Domains Protein: ENSMUSP00000111412
Gene: ENSMUSG00000004317
AA Change: L268*

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
Pfam:Voltage_CLC 219 621 1.3e-113 PFAM
CBS 665 715 2.01e-6 SMART
low complexity region 737 746 N/A INTRINSIC
CBS 756 803 5.73e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128319
SMART Domains Protein: ENSMUSP00000122555
Gene: ENSMUSG00000004317

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
transmembrane domain 125 147 N/A INTRINSIC
SCOP:d1kpla_ 184 224 4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154382
Coding Region Coverage
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 ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozyous for targeted mutations that inactivate this gene display impaired endocytosis of filtered proteins by kidney proximal tubular cells and provide a model of Dent's disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 69,080,418 (GRCm39) probably null Het
A2m A G 6: 121,653,906 (GRCm39) N1413S possibly damaging Het
Aadacl4fm4 C T 4: 144,401,188 (GRCm39) V99M probably damaging Het
Arhgap45 A T 10: 79,862,376 (GRCm39) N488Y probably benign Het
Arid4a G A 12: 71,083,889 (GRCm39) D94N probably damaging Het
Atp7a A G X: 105,153,436 (GRCm39) K1114E probably damaging Het
Atp8a2 C T 14: 60,265,512 (GRCm39) V275M probably benign Het
Ceacam12 T C 7: 17,801,357 (GRCm39) V112A probably damaging Het
Cep295 T A 9: 15,229,345 (GRCm39) D2256V probably benign Het
Chid1 A T 7: 141,093,807 (GRCm39) probably null Het
Cldn17 A G 16: 88,303,591 (GRCm39) I46T possibly damaging Het
Cnot1 A T 8: 96,455,346 (GRCm39) I2025N probably damaging Het
Cntn5 C T 9: 9,706,092 (GRCm39) V574M probably damaging Het
Col14a1 T A 15: 55,318,619 (GRCm39) C1373S unknown Het
Col9a1 A G 1: 24,224,205 (GRCm39) N129S unknown Het
Cp C T 3: 20,031,356 (GRCm39) P598S possibly damaging Het
Cpb1 G A 3: 20,320,410 (GRCm39) R150C probably damaging Het
Cyp2j7 T A 4: 96,115,917 (GRCm39) probably null Het
Dnajb7 T C 15: 81,291,692 (GRCm39) E215G possibly damaging Het
Dock1 G A 7: 134,760,239 (GRCm39) R1634Q possibly damaging Het
Dop1b A G 16: 93,554,004 (GRCm39) T313A possibly damaging Het
Fgd2 T A 17: 29,585,971 (GRCm39) V185E probably damaging Het
Flnb T C 14: 7,902,003 (GRCm38) probably null Het
Fzd7 A G 1: 59,523,062 (GRCm39) E315G probably benign Het
Gjd3 T A 11: 102,691,552 (GRCm39) K150N probably benign Het
Gpihbp1 C T 15: 75,469,977 (GRCm39) probably benign Het
Gpr160 T C 3: 30,950,002 (GRCm39) S25P possibly damaging Het
Grsf1 G A 5: 88,820,608 (GRCm39) R58* probably null Het
Ifit1 T A 19: 34,625,854 (GRCm39) M330K probably benign Het
Igkv1-122 T C 6: 67,994,178 (GRCm39) V22A probably benign Het
Ikbke A T 1: 131,183,048 (GRCm39) D692E probably benign Het
Il15ra T C 2: 11,737,956 (GRCm39) probably benign Het
Il18rap A G 1: 40,576,244 (GRCm39) I252V probably damaging Het
Klra10 C T 6: 130,249,680 (GRCm39) G202R probably damaging Het
Kpna7 A G 5: 144,929,661 (GRCm39) V388A probably damaging Het
L2hgdh A G 12: 69,768,175 (GRCm39) S108P probably damaging Het
Msto1 G A 3: 88,818,050 (GRCm39) T388M probably benign Het
Naip1 T C 13: 100,562,441 (GRCm39) E908G probably damaging Het
Neto1 C A 18: 86,491,814 (GRCm39) D238E possibly damaging Het
Nlrp5 T A 7: 23,117,159 (GRCm39) D294E probably benign Het
Nr3c2 T C 8: 77,635,816 (GRCm39) S306P probably damaging Het
Or8b41 T A 9: 38,055,167 (GRCm39) C240* probably null Het
Pard3 T A 8: 128,050,544 (GRCm39) L202H probably damaging Het
Pdzd2 T C 15: 12,458,293 (GRCm39) N190S probably damaging Het
Pi4ka T C 16: 17,127,222 (GRCm39) D1077G probably benign Het
Pmfbp1 A C 8: 110,240,543 (GRCm39) L208F probably damaging Het
Pms1 C T 1: 53,246,130 (GRCm39) D470N probably benign Het
Prdm10 T C 9: 31,238,578 (GRCm39) F108L probably benign Het
Rab11fip1 A T 8: 27,644,804 (GRCm39) M327K possibly damaging Het
Slc37a4 T A 9: 44,311,261 (GRCm39) L184Q probably damaging Het
Smdt1 T C 15: 82,232,094 (GRCm39) probably benign Het
Smg6 A G 11: 75,047,117 (GRCm39) Y1270C probably damaging Het
Speer4f2 T A 5: 17,581,565 (GRCm39) V169E possibly damaging Het
Stpg2 C T 3: 139,023,214 (GRCm39) A410V probably benign Het
Tnrc6b T A 15: 80,764,164 (GRCm39) D555E probably benign Het
Tsg101 A G 7: 46,558,808 (GRCm39) Y46H probably damaging Het
Vmn2r111 G A 17: 22,767,553 (GRCm39) S648L probably benign Het
Vmn2r73 T A 7: 85,507,267 (GRCm39) R682* probably null Het
Xkr5 A T 8: 18,983,514 (GRCm39) I676N probably damaging Het
Other mutations in Clcn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Clcn5 APN X 7,052,563 (GRCm39) missense possibly damaging 0.93
IGL03179:Clcn5 APN X 7,029,565 (GRCm39) splice site probably null
IGL03264:Clcn5 APN X 7,044,613 (GRCm39) missense probably benign
R4700:Clcn5 UTSW X 7,032,591 (GRCm39) splice site probably null
Posted On 2013-12-03