Incidental Mutation 'IGL02335:Clcn7'
ID 289690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcn7
Ensembl Gene ENSMUSG00000036636
Gene Name chloride channel, voltage-sensitive 7
Synonyms ClC-7
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02335
Quality Score
Chromosome 17
Chromosomal Location 25133391-25162104 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25146847 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 166 (L166F)
Ref Sequence ENSEMBL: ENSMUSP00000124194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040729] [ENSMUST00000160961]
AlphaFold O70496
Predicted Effect probably benign
Transcript: ENSMUST00000040729
AA Change: L186F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035964
Gene: ENSMUSG00000036636
AA Change: L186F

low complexity region 60 74 N/A INTRINSIC
Pfam:Voltage_CLC 183 594 1.5e-96 PFAM
CBS 632 687 8.38e-4 SMART
CBS 742 790 1.77e-11 SMART
Predicted Effect unknown
Transcript: ENSMUST00000159773
AA Change: L79F
SMART Domains Protein: ENSMUSP00000125546
Gene: ENSMUSG00000036636
AA Change: L79F

Pfam:Voltage_CLC 76 202 5.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160961
AA Change: L166F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124194
Gene: ENSMUSG00000036636
AA Change: L166F

low complexity region 8 25 N/A INTRINSIC
low complexity region 40 54 N/A INTRINSIC
Pfam:Voltage_CLC 163 574 1.5e-93 PFAM
CBS 612 667 8.38e-4 SMART
CBS 722 770 1.77e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162722
Predicted Effect probably benign
Transcript: ENSMUST00000162862
SMART Domains Protein: ENSMUSP00000124527
Gene: ENSMUSG00000036636

Pfam:Voltage_CLC 5 307 1.3e-48 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,540 (GRCm38) N526Y probably damaging Het
A4gnt C T 9: 99,620,213 (GRCm38) T142I probably benign Het
Acaca A G 11: 84,214,258 (GRCm38) T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 (GRCm38) D397G probably damaging Het
Ank1 C T 8: 23,135,638 (GRCm38) T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 (GRCm38) T94A possibly damaging Het
Cd22 A G 7: 30,876,134 (GRCm38) I161T probably damaging Het
Cnbd1 G T 4: 19,055,095 (GRCm38) N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 (GRCm38) probably benign Het
Col6a6 C T 9: 105,784,101 (GRCm38) V270M probably damaging Het
Cox8b C A 7: 140,899,077 (GRCm38) G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 (GRCm38) D275V probably benign Het
Cubn T A 2: 13,427,834 (GRCm38) probably null Het
Dctn2 T C 10: 127,275,821 (GRCm38) probably benign Het
Dnm1l A G 16: 16,342,740 (GRCm38) probably benign Het
Dpp4 T C 2: 62,334,644 (GRCm38) E687G probably benign Het
Fbxw20 T C 9: 109,223,309 (GRCm38) K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 (GRCm38) W181* probably null Het
G2e3 T A 12: 51,369,158 (GRCm38) M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 (GRCm38) Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 (GRCm38) I572M probably benign Het
Gm5538 G A 3: 59,743,605 (GRCm38) M49I probably benign Het
Gpatch2l T A 12: 86,256,937 (GRCm38) probably benign Het
Kcnq4 A G 4: 120,715,854 (GRCm38) L250P probably damaging Het
Lamc2 A T 1: 153,166,216 (GRCm38) N57K probably benign Het
Lingo1 A G 9: 56,620,081 (GRCm38) L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 (GRCm38) N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 (GRCm38) L545S probably damaging Het
Nup188 T A 2: 30,323,636 (GRCm38) probably null Het
Olfr1442 T C 19: 12,674,238 (GRCm38) I11T probably damaging Het
Olfr1494 A G 19: 13,749,934 (GRCm38) D276G probably benign Het
Olfr96 A G 17: 37,225,326 (GRCm38) N67S probably damaging Het
Pls1 A T 9: 95,784,183 (GRCm38) N138K probably benign Het
Prkch C A 12: 73,702,512 (GRCm38) N345K probably benign Het
Reps1 T C 10: 18,056,117 (GRCm38) probably null Het
Rrp7a T C 15: 83,122,691 (GRCm38) E15G probably benign Het
Scn1a T A 2: 66,277,661 (GRCm38) T1557S possibly damaging Het
Smtn T C 11: 3,526,215 (GRCm38) E602G probably damaging Het
Syvn1 T C 19: 6,050,093 (GRCm38) probably null Het
Tbxas1 A G 6: 39,023,080 (GRCm38) D267G probably damaging Het
Topbp1 A G 9: 103,328,523 (GRCm38) N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 (GRCm38) S180R probably damaging Het
Zfp345 T A 2: 150,474,543 (GRCm38) E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 (GRCm38) Q1144* probably null Het
Zfp936 T A 7: 43,187,267 (GRCm38) L34Q probably damaging Het
Other mutations in Clcn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Clcn7 APN 17 25,151,123 (GRCm38) missense probably damaging 1.00
IGL01735:Clcn7 APN 17 25,151,116 (GRCm38) missense probably benign 0.13
IGL01912:Clcn7 APN 17 25,153,009 (GRCm38) splice site probably benign
IGL01936:Clcn7 APN 17 25,155,376 (GRCm38) missense probably benign 0.44
IGL02084:Clcn7 APN 17 25,157,925 (GRCm38) missense probably benign
IGL02121:Clcn7 APN 17 25,153,084 (GRCm38) missense possibly damaging 0.95
IGL02160:Clcn7 APN 17 25,149,030 (GRCm38) unclassified probably benign
IGL02507:Clcn7 APN 17 25,144,469 (GRCm38) missense probably damaging 1.00
IGL02605:Clcn7 APN 17 25,146,818 (GRCm38) missense possibly damaging 0.60
IGL03160:Clcn7 APN 17 25,146,453 (GRCm38) unclassified probably benign
IGL03192:Clcn7 APN 17 25,133,601 (GRCm38) missense probably benign 0.00
IGL03194:Clcn7 APN 17 25,150,548 (GRCm38) missense probably damaging 0.98
IGL03409:Clcn7 APN 17 25,155,385 (GRCm38) missense probably damaging 1.00
R0140:Clcn7 UTSW 17 25,153,754 (GRCm38) missense probably damaging 1.00
R0153:Clcn7 UTSW 17 25,149,202 (GRCm38) unclassified probably benign
R0970:Clcn7 UTSW 17 25,151,234 (GRCm38) critical splice donor site probably null
R1644:Clcn7 UTSW 17 25,159,698 (GRCm38) missense probably damaging 1.00
R1856:Clcn7 UTSW 17 25,160,471 (GRCm38) missense probably damaging 1.00
R2145:Clcn7 UTSW 17 25,144,451 (GRCm38) missense probably benign
R2173:Clcn7 UTSW 17 25,145,609 (GRCm38) missense probably benign
R2401:Clcn7 UTSW 17 25,153,140 (GRCm38) missense probably benign 0.02
R2511:Clcn7 UTSW 17 25,155,446 (GRCm38) missense probably damaging 1.00
R3683:Clcn7 UTSW 17 25,150,593 (GRCm38) missense possibly damaging 0.84
R3684:Clcn7 UTSW 17 25,150,593 (GRCm38) missense possibly damaging 0.84
R3694:Clcn7 UTSW 17 25,159,707 (GRCm38) missense probably damaging 0.99
R4424:Clcn7 UTSW 17 25,160,176 (GRCm38) missense probably damaging 1.00
R4681:Clcn7 UTSW 17 25,157,961 (GRCm38) missense probably damaging 1.00
R4870:Clcn7 UTSW 17 25,153,565 (GRCm38) intron probably benign
R5372:Clcn7 UTSW 17 25,157,179 (GRCm38) missense possibly damaging 0.82
R5820:Clcn7 UTSW 17 25,149,052 (GRCm38) missense probably damaging 1.00
R6154:Clcn7 UTSW 17 25,157,954 (GRCm38) missense probably damaging 0.98
R6181:Clcn7 UTSW 17 25,151,728 (GRCm38) missense possibly damaging 0.79
R6306:Clcn7 UTSW 17 25,157,528 (GRCm38) missense probably benign 0.01
R6798:Clcn7 UTSW 17 25,159,760 (GRCm38) missense probably damaging 1.00
R6961:Clcn7 UTSW 17 25,157,214 (GRCm38) missense probably damaging 1.00
R7020:Clcn7 UTSW 17 25,146,351 (GRCm38) missense possibly damaging 0.76
R7089:Clcn7 UTSW 17 25,153,693 (GRCm38) missense
R7757:Clcn7 UTSW 17 25,156,822 (GRCm38) missense probably damaging 1.00
R8057:Clcn7 UTSW 17 25,149,259 (GRCm38) nonsense probably null
R8670:Clcn7 UTSW 17 25,159,614 (GRCm38) missense probably damaging 0.99
R9031:Clcn7 UTSW 17 25,157,523 (GRCm38) missense probably damaging 0.96
R9720:Clcn7 UTSW 17 25,155,497 (GRCm38) missense probably damaging 1.00
X0020:Clcn7 UTSW 17 25,150,226 (GRCm38) missense probably damaging 1.00
Z1177:Clcn7 UTSW 17 25,153,015 (GRCm38) critical splice acceptor site probably null
Posted On 2015-04-16