Incidental Mutation 'R6306:Clcn7'
ID 509708
Institutional Source Beutler Lab
Gene Symbol Clcn7
Ensembl Gene ENSMUSG00000036636
Gene Name chloride channel, voltage-sensitive 7
Synonyms ClC-7
MMRRC Submission 044468-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6306 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25352365-25381078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25376502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 611 (F611L)
Ref Sequence ENSEMBL: ENSMUSP00000035964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040729] [ENSMUST00000073277] [ENSMUST00000160961] [ENSMUST00000182621] [ENSMUST00000183178]
AlphaFold O70496
Predicted Effect probably benign
Transcript: ENSMUST00000040729
AA Change: F611L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000035964
Gene: ENSMUSG00000036636
AA Change: F611L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000073277
SMART Domains Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:DUF4631 48 578 1.4e-263 PFAM
low complexity region 631 642 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159426
Predicted Effect probably benign
Transcript: ENSMUST00000160961
AA Change: F591L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124194
Gene: ENSMUSG00000036636
AA Change: F591L

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000162862
AA Change: F323L
SMART Domains Protein: ENSMUSP00000124527
Gene: ENSMUSG00000036636
AA Change: F323L

DomainStartEndE-ValueType
Pfam:Voltage_CLC 5 307 1.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182621
SMART Domains Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:DUF4631 47 573 2.9e-252 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183178
SMART Domains Protein: ENSMUSP00000138659
Gene: ENSMUSG00000059562

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Meta Mutation Damage Score 0.0868 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (88/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G A 9: 90,060,331 (GRCm39) probably null Het
Adora2a T A 10: 75,169,238 (GRCm39) V234E probably damaging Het
Alpk1 T C 3: 127,479,965 (GRCm39) D188G probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ankrd17 A G 5: 90,392,013 (GRCm39) F1886L probably benign Het
Anks1 T G 17: 28,269,613 (GRCm39) L769R probably damaging Het
Apol10a A G 15: 77,373,161 (GRCm39) I266V probably benign Het
Arhgef28 T C 13: 98,121,896 (GRCm39) Y556C probably damaging Het
Brd8 T A 18: 34,744,304 (GRCm39) T175S probably damaging Het
Camsap2 C T 1: 136,208,937 (GRCm39) V852I probably benign Het
Cd55b G T 1: 130,341,803 (GRCm39) P278Q probably damaging Het
Cep290 T A 10: 100,367,028 (GRCm39) S1126R possibly damaging Het
Cfh C T 1: 140,030,155 (GRCm39) C906Y probably damaging Het
Chst13 C A 6: 90,286,260 (GRCm39) R234L probably damaging Het
Cntnap1 A G 11: 101,075,441 (GRCm39) D873G probably damaging Het
Cntnap5b T C 1: 100,091,871 (GRCm39) I518T probably damaging Het
Col28a1 T C 6: 8,014,969 (GRCm39) E812G probably damaging Het
Cpa1 T C 6: 30,640,953 (GRCm39) I148T probably damaging Het
Cyp11a1 A G 9: 57,932,383 (GRCm39) N232S probably benign Het
Dhrs13 A G 11: 77,923,519 (GRCm39) D79G probably damaging Het
Disp1 T C 1: 182,868,712 (GRCm39) E1236G possibly damaging Het
Dnah1 A C 14: 31,026,544 (GRCm39) L778R probably damaging Het
Dnah14 CTGTG CTG 1: 181,412,589 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dock9 A T 14: 121,799,492 (GRCm39) I1729N probably damaging Het
Dysf T C 6: 84,114,248 (GRCm39) V1192A possibly damaging Het
Enpp2 A G 15: 54,762,742 (GRCm39) S169P probably damaging Het
Fam114a2 T G 11: 57,404,972 (GRCm39) R43S probably damaging Het
Fam13a T C 6: 58,917,239 (GRCm39) T546A probably benign Het
Fos A T 12: 85,522,460 (GRCm39) D163V probably damaging Het
Fras1 T C 5: 96,912,805 (GRCm39) Y3370H probably damaging Het
Fshr T C 17: 89,507,961 (GRCm39) N27S probably null Het
Galnt6 A G 15: 100,591,305 (GRCm39) S600P possibly damaging Het
Gars1 T A 6: 55,032,809 (GRCm39) N260K probably damaging Het
Gpr158 C G 2: 21,820,422 (GRCm39) P640A possibly damaging Het
Grep1 T C 17: 23,925,124 (GRCm39) N495S possibly damaging Het
Grik3 A G 4: 125,526,205 (GRCm39) D146G probably benign Het
Hdac4 T C 1: 91,923,896 (GRCm39) T205A probably benign Het
Kcnq3 T C 15: 65,876,643 (GRCm39) D500G probably benign Het
Kmt5c A G 7: 4,749,480 (GRCm39) K333E probably benign Het
Krt81 A G 15: 101,357,404 (GRCm39) S443P probably benign Het
M6pr T C 6: 122,292,121 (GRCm39) probably null Het
Mccc2 T A 13: 100,130,085 (GRCm39) I91L probably benign Het
Nip7 A G 8: 107,785,055 (GRCm39) D110G probably damaging Het
Nol8 T A 13: 49,829,829 (GRCm39) F1093I probably damaging Het
Nrxn1 T C 17: 90,872,874 (GRCm39) T1027A possibly damaging Het
Ofcc1 T A 13: 40,302,052 (GRCm39) M495L probably benign Het
Or13p10 A T 4: 118,523,490 (GRCm39) M259L probably benign Het
Or7e178 A G 9: 20,225,742 (GRCm39) M158T probably benign Het
Pafah1b2 A T 9: 45,886,425 (GRCm39) V81D probably damaging Het
Pcdhga4 A T 18: 37,818,966 (GRCm39) S172C probably damaging Het
Pds5a A G 5: 65,813,639 (GRCm39) V282A probably damaging Het
Plat A G 8: 23,262,282 (GRCm39) D102G possibly damaging Het
Plce1 C A 19: 38,757,909 (GRCm39) Q1961K probably damaging Het
Plppr3 T A 10: 79,697,566 (GRCm39) K444* probably null Het
Plscr3 A G 11: 69,738,472 (GRCm39) probably null Het
Prtg A T 9: 72,813,468 (GRCm39) T943S probably benign Het
Racgap1 A G 15: 99,521,834 (GRCm39) F519L probably benign Het
Rbms2 A T 10: 127,987,050 (GRCm39) probably null Het
Rfx7 A G 9: 72,524,237 (GRCm39) T476A possibly damaging Het
Rnf150 T A 8: 83,810,131 (GRCm39) L421Q possibly damaging Het
Sema3b A G 9: 107,478,119 (GRCm39) L422P possibly damaging Het
Shank2 G A 7: 143,963,417 (GRCm39) A921T probably benign Het
Skint3 A T 4: 112,113,072 (GRCm39) E227D probably damaging Het
Slc25a19 G A 11: 115,508,386 (GRCm39) R201C possibly damaging Het
Slc38a10 G T 11: 120,038,645 (GRCm39) A40D probably damaging Het
Slc5a4b T C 10: 75,917,185 (GRCm39) T284A probably benign Het
Smc1b A T 15: 85,011,824 (GRCm39) F154I probably benign Het
Spry2 A T 14: 106,130,418 (GRCm39) M256K possibly damaging Het
Stkld1 C T 2: 26,833,899 (GRCm39) P129S probably damaging Het
Syce2 T C 8: 85,599,371 (GRCm39) L13S possibly damaging Het
Tbc1d15 C A 10: 115,069,148 (GRCm39) V74L possibly damaging Het
Tecpr2 T A 12: 110,911,185 (GRCm39) V1074D probably damaging Het
Tex36 G A 7: 133,197,054 (GRCm39) T21I probably benign Het
Ttn T G 2: 76,554,454 (GRCm39) D30787A probably damaging Het
Ttn T A 2: 76,622,264 (GRCm39) Q13710L probably benign Het
Usp34 T C 11: 23,362,260 (GRCm39) F1569L possibly damaging Het
Vat1l C T 8: 115,098,391 (GRCm39) A387V probably damaging Het
Vil1 G A 1: 74,460,470 (GRCm39) G209D possibly damaging Het
Vmn1r113 G T 7: 20,521,792 (GRCm39) D195Y probably damaging Het
Vmn2r69 A C 7: 85,064,799 (GRCm39) I29R probably benign Het
Vti1b G A 12: 79,207,323 (GRCm39) Q76* probably null Het
Zfp423 C A 8: 88,508,662 (GRCm39) V540F possibly damaging Het
Zfp644 T C 5: 106,785,990 (GRCm39) N186D probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp787 G A 7: 6,135,360 (GRCm39) A297V probably damaging Het
Zfp827 G T 8: 79,787,324 (GRCm39) Q163H probably damaging Het
Zfp955b T A 17: 33,522,160 (GRCm39) V543E probably benign Het
Other mutations in Clcn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Clcn7 APN 17 25,370,097 (GRCm39) missense probably damaging 1.00
IGL01735:Clcn7 APN 17 25,370,090 (GRCm39) missense probably benign 0.13
IGL01912:Clcn7 APN 17 25,371,983 (GRCm39) splice site probably benign
IGL01936:Clcn7 APN 17 25,374,350 (GRCm39) missense probably benign 0.44
IGL02084:Clcn7 APN 17 25,376,899 (GRCm39) missense probably benign
IGL02121:Clcn7 APN 17 25,372,058 (GRCm39) missense possibly damaging 0.95
IGL02160:Clcn7 APN 17 25,368,004 (GRCm39) unclassified probably benign
IGL02335:Clcn7 APN 17 25,365,821 (GRCm39) missense probably benign 0.00
IGL02507:Clcn7 APN 17 25,363,443 (GRCm39) missense probably damaging 1.00
IGL02605:Clcn7 APN 17 25,365,792 (GRCm39) missense possibly damaging 0.60
IGL03160:Clcn7 APN 17 25,365,427 (GRCm39) unclassified probably benign
IGL03192:Clcn7 APN 17 25,352,575 (GRCm39) missense probably benign 0.00
IGL03194:Clcn7 APN 17 25,369,522 (GRCm39) missense probably damaging 0.98
IGL03409:Clcn7 APN 17 25,374,359 (GRCm39) missense probably damaging 1.00
R0140:Clcn7 UTSW 17 25,372,728 (GRCm39) missense probably damaging 1.00
R0153:Clcn7 UTSW 17 25,368,176 (GRCm39) unclassified probably benign
R0970:Clcn7 UTSW 17 25,370,208 (GRCm39) critical splice donor site probably null
R1644:Clcn7 UTSW 17 25,378,672 (GRCm39) missense probably damaging 1.00
R1856:Clcn7 UTSW 17 25,379,445 (GRCm39) missense probably damaging 1.00
R2145:Clcn7 UTSW 17 25,363,425 (GRCm39) missense probably benign
R2173:Clcn7 UTSW 17 25,364,583 (GRCm39) missense probably benign
R2401:Clcn7 UTSW 17 25,372,114 (GRCm39) missense probably benign 0.02
R2511:Clcn7 UTSW 17 25,374,420 (GRCm39) missense probably damaging 1.00
R3683:Clcn7 UTSW 17 25,369,567 (GRCm39) missense possibly damaging 0.84
R3684:Clcn7 UTSW 17 25,369,567 (GRCm39) missense possibly damaging 0.84
R3694:Clcn7 UTSW 17 25,378,681 (GRCm39) missense probably damaging 0.99
R4424:Clcn7 UTSW 17 25,379,150 (GRCm39) missense probably damaging 1.00
R4681:Clcn7 UTSW 17 25,376,935 (GRCm39) missense probably damaging 1.00
R4870:Clcn7 UTSW 17 25,372,539 (GRCm39) intron probably benign
R5372:Clcn7 UTSW 17 25,376,153 (GRCm39) missense possibly damaging 0.82
R5820:Clcn7 UTSW 17 25,368,026 (GRCm39) missense probably damaging 1.00
R6154:Clcn7 UTSW 17 25,376,928 (GRCm39) missense probably damaging 0.98
R6181:Clcn7 UTSW 17 25,370,702 (GRCm39) missense possibly damaging 0.79
R6798:Clcn7 UTSW 17 25,378,734 (GRCm39) missense probably damaging 1.00
R6961:Clcn7 UTSW 17 25,376,188 (GRCm39) missense probably damaging 1.00
R7020:Clcn7 UTSW 17 25,365,325 (GRCm39) missense possibly damaging 0.76
R7089:Clcn7 UTSW 17 25,372,667 (GRCm39) missense
R7757:Clcn7 UTSW 17 25,375,796 (GRCm39) missense probably damaging 1.00
R8057:Clcn7 UTSW 17 25,368,233 (GRCm39) nonsense probably null
R8670:Clcn7 UTSW 17 25,378,588 (GRCm39) missense probably damaging 0.99
R9031:Clcn7 UTSW 17 25,376,497 (GRCm39) missense probably damaging 0.96
R9720:Clcn7 UTSW 17 25,374,471 (GRCm39) missense probably damaging 1.00
X0020:Clcn7 UTSW 17 25,369,200 (GRCm39) missense probably damaging 1.00
Z1177:Clcn7 UTSW 17 25,371,989 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATTGTCCTTGTAGCCTGGCAC -3'
(R):5'- GAGACTGACTAGCCATGAATCGG -3'

Sequencing Primer
(F):5'- GCACTGGGGTTTAAGGGAC -3'
(R):5'- TAGCCATGAATCGGCCACAGTG -3'
Posted On 2018-04-02