Incidental Mutation 'IGL03264:Clcn5'
ID 415014
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 # IGL03264
Quality Score
Status
Chromosome X
Chromosomal Location 7020049-7185597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7044613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 177 (H177L)
Ref Sequence ENSEMBL: ENSMUSP00000122555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004428] [ENSMUST00000115746] [ENSMUST00000128319]
AlphaFold Q9WVD4
Predicted Effect probably benign
Transcript: ENSMUST00000004428
AA Change: H107L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004428
Gene: ENSMUSG00000004317
AA Change: H107L

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 benign
Transcript: ENSMUST00000115746
AA Change: H177L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111412
Gene: ENSMUSG00000004317
AA Change: H177L

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
AA Change: H177L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122555
Gene: ENSMUSG00000004317
AA Change: H177L

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T G 17: 31,283,428 (GRCm39) S38A probably benign Het
Alkbh1 T G 12: 87,478,197 (GRCm39) D238A probably damaging Het
Arhgef17 A T 7: 100,529,220 (GRCm39) D1531E probably benign Het
Bltp1 A T 3: 37,056,784 (GRCm39) I3152F probably damaging Het
Cacng3 G T 7: 122,271,180 (GRCm39) G62W probably damaging Het
Cdh22 T C 2: 164,958,093 (GRCm39) I625V probably benign Het
Ces5a T C 8: 94,228,898 (GRCm39) N444S possibly damaging Het
Chst13 A T 6: 90,286,193 (GRCm39) Y256* probably null Het
Dars1 G A 1: 128,341,427 (GRCm39) R63C probably damaging Het
Dcun1d4 A G 5: 73,677,572 (GRCm39) S84G probably benign Het
Dcxr T C 11: 120,617,298 (GRCm39) N82D probably damaging Het
Eef1a2 C A 2: 180,790,527 (GRCm39) K376N possibly damaging Het
Efhc1 G A 1: 21,037,715 (GRCm39) M297I probably benign Het
Etfb G T 7: 43,101,897 (GRCm39) V64F probably damaging Het
Fam135b A C 15: 71,334,637 (GRCm39) N852K probably benign Het
Gigyf2 T C 1: 87,376,790 (GRCm39) probably benign Het
Gria4 T C 9: 4,513,288 (GRCm39) K274E probably benign Het
Irag1 A T 7: 110,525,553 (GRCm39) S200T probably benign Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Med12l C T 3: 59,208,788 (GRCm39) Q2139* probably null Het
Plxna4 A G 6: 32,155,337 (GRCm39) F1536L possibly damaging Het
Pramel19 A T 4: 101,798,329 (GRCm39) Q100L probably damaging Het
Rmnd5a A G 6: 71,370,119 (GRCm39) I389T probably damaging Het
Rnf128 T G X: 138,511,985 (GRCm39) V144G probably damaging Het
Rpgrip1 A G 14: 52,378,109 (GRCm39) T486A possibly damaging Het
Rps6kc1 T C 1: 190,604,026 (GRCm39) T199A probably benign Het
Skint5 T A 4: 113,343,854 (GRCm39) D1338V unknown Het
Slc35g2 A T 9: 100,434,699 (GRCm39) I324K possibly damaging Het
Slc4a5 G A 6: 83,238,507 (GRCm39) R225H probably damaging Het
Srgap3 A T 6: 112,793,636 (GRCm39) H113Q probably damaging Het
Stpg2 A C 3: 139,014,970 (GRCm39) K378N possibly damaging Het
Svep1 A G 4: 58,066,422 (GRCm39) probably benign Het
Utp11 T C 4: 124,573,521 (GRCm39) K218E probably damaging Het
Vmn2r53 T A 7: 12,315,819 (GRCm39) I667F possibly damaging Het
Wdfy3 A G 5: 102,048,016 (GRCm39) L1763P probably damaging Het
Wnt2 A G 6: 17,989,959 (GRCm39) Y313H probably benign Het
Zfp638 T C 6: 83,923,229 (GRCm39) S676P probably benign Het
Zfp747l1 A G 7: 126,984,811 (GRCm39) probably benign Het
Other mutations in Clcn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Clcn5 APN X 7,036,678 (GRCm39) nonsense probably null
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
R4700:Clcn5 UTSW X 7,032,591 (GRCm39) splice site probably null
Posted On 2016-08-02