Incidental Mutation 'R4700:Clcn5'
ID 394793
Institutional Source Beutler Lab
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
MMRRC Submission 041948-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4700 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 7020049-7185597 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 7032591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004428] [ENSMUST00000115746] [ENSMUST00000115746] [ENSMUST00000128319]
AlphaFold Q9WVD4
Predicted Effect probably null
Transcript: ENSMUST00000004428
SMART Domains Protein: ENSMUSP00000004428
Gene: ENSMUSG00000004317

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
SMART Domains Protein: ENSMUSP00000111412
Gene: ENSMUSG00000004317

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 null
Transcript: ENSMUST00000115746
SMART Domains Protein: ENSMUSP00000111412
Gene: ENSMUSG00000004317

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (127/131)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik A G 13: 31,742,795 (GRCm39) probably benign Het
Abca13 A G 11: 9,242,306 (GRCm39) T1390A possibly damaging Het
Abca14 T A 7: 119,911,928 (GRCm39) probably null Het
Abca8a A C 11: 109,961,308 (GRCm39) V538G probably damaging Het
Acy1 C T 9: 106,310,782 (GRCm39) G329R probably benign Het
Adamts17 T C 7: 66,691,636 (GRCm39) C607R probably damaging Het
Adamts20 A T 15: 94,292,503 (GRCm39) C202* probably null Het
Adcy5 A G 16: 35,099,586 (GRCm39) N712S possibly damaging Het
Ahnak A G 19: 8,982,045 (GRCm39) K1110E probably benign Het
Anks6 T A 4: 47,033,127 (GRCm39) H578L possibly damaging Het
Appl1 C A 14: 26,647,928 (GRCm39) L626F probably benign Het
Arl1 A G 10: 88,566,499 (GRCm39) probably benign Het
Atf4 T A 15: 80,141,618 (GRCm39) I336K probably damaging Het
Atp7b A T 8: 22,490,137 (GRCm39) S1044T probably benign Het
Carm1 A G 9: 21,498,480 (GRCm39) N466S probably benign Het
Cbl A G 9: 44,084,677 (GRCm39) S153P probably damaging Het
Ccdc159 A G 9: 21,839,027 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdc7 T C 5: 107,121,707 (GRCm39) F207L probably benign Het
Celsr2 T C 3: 108,304,547 (GRCm39) R2271G probably benign Het
Cep162 T C 9: 87,088,915 (GRCm39) Q989R probably damaging Het
Cep89 A G 7: 35,137,862 (GRCm39) T749A probably benign Het
Clu A T 14: 66,217,313 (GRCm39) Y382F probably benign Het
Cnih4 A G 1: 180,993,808 (GRCm39) probably benign Het
Crb1 A G 1: 139,126,509 (GRCm39) L1340P probably damaging Het
Ddx4 T C 13: 112,750,269 (GRCm39) T421A probably damaging Het
Dennd5a T C 7: 109,520,405 (GRCm39) E484G probably benign Het
Dsg4 G T 18: 20,589,965 (GRCm39) V372L possibly damaging Het
Dyrk2 T C 10: 118,704,191 (GRCm39) D21G probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Epb41l4a A T 18: 33,935,560 (GRCm39) probably null Het
F10 G T 8: 13,089,621 (GRCm39) V67F possibly damaging Het
Fat3 A G 9: 15,942,469 (GRCm39) I1301T probably damaging Het
Filip1l A G 16: 57,391,058 (GRCm39) T549A probably benign Het
Flt4 C A 11: 49,517,271 (GRCm39) probably benign Het
Fndc1 G A 17: 7,990,312 (GRCm39) T1128I unknown Het
Fos T C 12: 85,522,936 (GRCm39) S283P probably benign Het
Fryl T C 5: 73,222,881 (GRCm39) Y1900C possibly damaging Het
Fsip2 C A 2: 82,817,373 (GRCm39) Q4369K probably benign Het
Gad2 A T 2: 22,563,982 (GRCm39) H395L probably damaging Het
Grm2 T A 9: 106,531,130 (GRCm39) I120F probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Igsf10 A T 3: 59,227,751 (GRCm39) I1974N probably damaging Het
Il23r T C 6: 67,450,834 (GRCm39) N215S probably damaging Het
Jph1 T A 1: 17,161,928 (GRCm39) M245L possibly damaging Het
Loxl4 G A 19: 42,596,052 (GRCm39) H147Y probably benign Het
Lsg1 A G 16: 30,384,267 (GRCm39) I521T probably damaging Het
Ltc4s C T 11: 50,127,908 (GRCm39) G83R probably damaging Het
Map2 A G 1: 66,449,796 (GRCm39) E173G probably damaging Het
Med29 T A 7: 28,086,352 (GRCm39) D152V possibly damaging Het
Megf8 A G 7: 25,062,940 (GRCm39) D2432G probably damaging Het
Mrpl38 G A 11: 116,025,978 (GRCm39) probably benign Het
Myh7 A G 14: 55,225,778 (GRCm39) I521T possibly damaging Het
Mylk G T 16: 34,742,805 (GRCm39) V1106L probably benign Het
Myo15b A T 11: 115,752,761 (GRCm39) D753V possibly damaging Het
Myo1g T C 11: 6,466,785 (GRCm39) probably null Het
Myrfl A G 10: 116,613,247 (GRCm39) probably null Het
Naip5 A G 13: 100,359,922 (GRCm39) V438A possibly damaging Het
Nav3 A G 10: 109,600,796 (GRCm39) V1277A probably benign Het
Nek10 T A 14: 14,842,841 (GRCm38) V182E possibly damaging Het
Ngly1 T C 14: 16,281,809 (GRCm38) V355A probably benign Het
Nol6 T C 4: 41,118,944 (GRCm39) E683G possibly damaging Het
Obsl1 A T 1: 75,480,085 (GRCm39) V487E probably damaging Het
Oc90 T A 15: 65,753,354 (GRCm39) R322W possibly damaging Het
Or1q1 C A 2: 36,887,515 (GRCm39) A231D probably benign Het
Or4f60 A G 2: 111,902,097 (GRCm39) V277A possibly damaging Het
Or52e4 A T 7: 104,705,483 (GRCm39) H10L possibly damaging Het
Or8b4 A G 9: 37,830,217 (GRCm39) E93G possibly damaging Het
Osbp2 T C 11: 3,662,160 (GRCm39) H231R probably damaging Het
Pate6 A T 9: 35,701,021 (GRCm39) C22S probably damaging Het
Pdzph1 T C 17: 59,281,541 (GRCm39) H247R probably damaging Het
Pidd1 T C 7: 141,022,162 (GRCm39) N209S probably damaging Het
Pknox1 C T 17: 31,822,286 (GRCm39) A351V probably damaging Het
Plxnd1 C A 6: 115,935,576 (GRCm39) V1737F probably damaging Het
Prkdc A T 16: 15,519,976 (GRCm39) K1138M probably damaging Het
Rad54l2 T C 9: 106,631,224 (GRCm39) D21G possibly damaging Het
Recql4 C T 15: 76,592,785 (GRCm39) C302Y probably damaging Het
Scgb2b6 T C 7: 31,318,908 (GRCm39) noncoding transcript Het
Sdc1 A G 12: 8,840,541 (GRCm39) E106G possibly damaging Het
Slc10a5 T G 3: 10,400,360 (GRCm39) Q100P probably damaging Het
Slc10a5 C A 3: 10,400,359 (GRCm39) Q100H probably damaging Het
Slc5a9 A T 4: 111,748,134 (GRCm39) L226Q possibly damaging Het
Slfn1 T C 11: 83,012,475 (GRCm39) V197A probably benign Het
Spire1 T C 18: 67,645,935 (GRCm39) M244V probably benign Het
St3gal3 C T 4: 117,817,232 (GRCm39) V141I probably benign Het
St6galnac4 G T 2: 32,477,172 (GRCm39) probably benign Het
Svep1 T C 4: 58,097,323 (GRCm39) K1407E possibly damaging Het
Tbc1d32 A G 10: 56,100,745 (GRCm39) C78R probably damaging Het
Tcstv5 T C 13: 120,411,378 (GRCm39) Y76C probably benign Het
Tln2 A G 9: 67,253,809 (GRCm39) V754A probably benign Het
Tmeff1 A T 4: 48,636,869 (GRCm39) Y189F possibly damaging Het
Tmem131l C T 3: 83,806,519 (GRCm39) A1433T probably benign Het
Tnfrsf8 T C 4: 145,029,692 (GRCm39) Y36C probably damaging Het
Trp53i11 G T 2: 93,030,245 (GRCm39) R184L probably damaging Het
Trpv1 A T 11: 73,142,110 (GRCm39) M214L possibly damaging Het
Tsnax T A 8: 125,755,533 (GRCm39) S132T probably benign Het
Ttc28 T C 5: 111,424,909 (GRCm39) L1547P probably damaging Het
Ttc3 A G 16: 94,240,100 (GRCm39) probably null Het
Tubal3 T A 13: 3,983,514 (GRCm39) D431E probably damaging Het
Ugt2b36 A T 5: 87,240,301 (GRCm39) probably null Het
Vmn1r23 A T 6: 57,903,190 (GRCm39) I196K probably benign Het
Vmn1r55 A C 7: 5,149,586 (GRCm39) L279R probably damaging Het
Vmn1r55 G T 7: 5,149,587 (GRCm39) L279M probably damaging Het
Vmn2r89 G A 14: 51,694,942 (GRCm39) G474E probably damaging Het
Vps26b T C 9: 26,926,511 (GRCm39) K163E probably damaging Het
Zfp142 A G 1: 74,609,431 (GRCm39) F1352L probably damaging Het
Zfp422 C T 6: 116,603,844 (GRCm39) E52K possibly damaging Het
Zfp423 T A 8: 88,508,338 (GRCm39) probably null Het
Zfp493 T C 13: 67,934,736 (GRCm39) F230L probably damaging Het
Zfp760 T C 17: 21,941,388 (GRCm39) C188R probably benign Het
Zfyve28 G T 5: 34,375,189 (GRCm39) T275K probably damaging Het
Znhit3 T C 11: 84,807,155 (GRCm39) N5D 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
IGL03264:Clcn5 APN X 7,044,613 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCAAATGAAATGATGGGGCTG -3'
(R):5'- AGTGCTTATGTGGAAGTGCC -3'

Sequencing Primer
(F):5'- GGCTGCTGACATTATAGTCAAGACTG -3'
(R):5'- TGGAAGTGCCATGCAGAG -3'
Posted On 2016-06-17