Incidental Mutation 'R7089:Clcn7'
ID 550114
Institutional Source Beutler Lab
Gene Symbol Clcn7
Ensembl Gene ENSMUSG00000036636
Gene Name chloride channel, voltage-sensitive 7
Synonyms ClC-7
MMRRC Submission 045183-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7089 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25352365-25381078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25372667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 149 (H149Y)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040729] [ENSMUST00000160961]
AlphaFold O70496
Predicted Effect probably benign
Transcript: ENSMUST00000040729
SMART Domains Protein: ENSMUSP00000035964
Gene: ENSMUSG00000036636

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: ENSMUST00000159773
SMART Domains Protein: ENSMUSP00000125546
Gene: ENSMUSG00000036636

DomainStartEndE-ValueType
Pfam:Voltage_CLC 76 202 5.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160961
SMART Domains Protein: ENSMUSP00000124194
Gene: ENSMUSG00000036636

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
SMART Domains Protein: ENSMUSP00000124527
Gene: ENSMUSG00000036636
AA Change: H149Y

DomainStartEndE-ValueType
Pfam:Voltage_CLC 5 307 1.3e-48 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,226,927 (GRCm39) V494A probably benign Het
1700017B05Rik A T 9: 57,166,041 (GRCm39) L111Q probably damaging Het
Adgrf4 T G 17: 42,977,424 (GRCm39) I640L possibly damaging Het
Afdn T G 17: 14,111,074 (GRCm39) probably null Het
Ammecr1l A T 18: 31,894,877 (GRCm39) probably benign Het
Aox1 A T 1: 58,375,808 (GRCm39) Y879F probably benign Het
Arhgap45 G A 10: 79,862,181 (GRCm39) probably null Het
Arpp21 G T 9: 111,955,514 (GRCm39) H542N probably benign Het
Ccdc192 C T 18: 57,725,059 (GRCm39) T96I probably benign Het
Cdt1 G A 8: 123,298,719 (GRCm39) R452Q probably damaging Het
Clpp T G 17: 57,297,421 (GRCm39) W32G probably benign Het
Dnmt1 G T 9: 20,819,785 (GRCm39) L1572M probably damaging Het
Drd3 G T 16: 43,627,741 (GRCm39) R128S probably damaging Het
Elmo2 A T 2: 165,146,849 (GRCm39) F243I possibly damaging Het
Endou G A 15: 97,618,126 (GRCm39) P128L probably benign Het
Fat3 A G 9: 15,908,214 (GRCm39) M2596T probably benign Het
Fbxl16 A G 17: 26,035,703 (GRCm39) K100R probably benign Het
Fbxo10 A G 4: 45,062,230 (GRCm39) S99P possibly damaging Het
Fez1 A T 9: 36,778,999 (GRCm39) R225S probably benign Het
Gm14326 A T 2: 177,588,464 (GRCm39) H177Q probably damaging Het
Gm32742 T A 9: 51,054,546 (GRCm39) M1360L probably benign Het
Hspg2 T C 4: 137,271,677 (GRCm39) V2481A possibly damaging Het
Ifnl3 A G 7: 28,223,283 (GRCm39) K101E probably benign Het
Il15 A T 8: 83,064,204 (GRCm39) S77R probably damaging Het
Ints13 T C 6: 146,476,216 (GRCm39) D95G probably damaging Het
Kcmf1 G A 6: 72,819,929 (GRCm39) P357S probably benign Het
Kcmf1 G T 6: 72,825,289 (GRCm39) T268K probably benign Het
Kmt2d A T 15: 98,748,153 (GRCm39) I3057N unknown Het
Lgi2 A G 5: 52,695,832 (GRCm39) F376L probably damaging Het
Lrig3 T G 10: 125,832,993 (GRCm39) L289R probably damaging Het
Mafk A G 5: 139,785,876 (GRCm39) S25G probably benign Het
Mpz T C 1: 170,987,204 (GRCm39) probably null Het
Nalcn A C 14: 123,515,761 (GRCm39) I1680R probably benign Het
Or13d1 C T 4: 52,971,470 (GRCm39) P283L probably damaging Het
Or5ak24 T A 2: 85,260,902 (GRCm39) K90N probably benign Het
Or5g26 C T 2: 85,494,518 (GRCm39) V87M possibly damaging Het
Or5p62 A T 7: 107,771,701 (GRCm39) N83K probably benign Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Oxgr1 A G 14: 120,259,614 (GRCm39) Y198H probably damaging Het
P3h2 T A 16: 25,784,559 (GRCm39) N645I probably damaging Het
Pbld2 A G 10: 62,889,691 (GRCm39) T158A probably benign Het
Pdgfrb C T 18: 61,206,315 (GRCm39) R608C probably damaging Het
Pdia5 T C 16: 35,228,049 (GRCm39) T408A probably benign Het
Pik3cg A G 12: 32,226,845 (GRCm39) V1014A probably benign Het
Prpf8 A G 11: 75,399,374 (GRCm39) T2180A probably damaging Het
Rabgap1l A T 1: 160,551,742 (GRCm39) Y245* probably null Het
Rerg T C 6: 137,044,033 (GRCm39) T28A possibly damaging Het
Rhcg A G 7: 79,249,216 (GRCm39) I335T probably damaging Het
Rmnd1 C T 10: 4,353,873 (GRCm39) V78I probably damaging Het
Ryr2 A C 13: 11,664,662 (GRCm39) V3547G probably benign Het
Scnn1a C A 6: 125,314,770 (GRCm39) Q324K probably benign Het
Serpinb6e G A 13: 34,016,698 (GRCm39) T345I probably damaging Het
Smchd1 T C 17: 71,668,955 (GRCm39) T1687A probably benign Het
Smim45 A T 15: 82,136,774 (GRCm39) probably benign Het
Speer4f2 A C 5: 17,581,661 (GRCm39) H201P Het
Spef2 G A 15: 9,725,257 (GRCm39) R167C probably damaging Het
Srp68 A G 11: 116,162,733 (GRCm39) probably null Het
Tbc1d14 A T 5: 36,669,884 (GRCm39) F455I probably benign Het
Tet3 A G 6: 83,432,006 (GRCm39) V10A possibly damaging Het
Tlr3 A T 8: 45,850,810 (GRCm39) S696T probably benign Het
Tmem63b T C 17: 45,978,709 (GRCm39) N300S probably benign Het
Tmprss11g T C 5: 86,637,150 (GRCm39) I328M probably damaging Het
Tpm3 C T 3: 89,980,029 (GRCm39) probably benign Het
Trim28 T A 7: 12,758,833 (GRCm39) L63Q probably damaging Het
Unc5b G A 10: 60,613,265 (GRCm39) R324C probably damaging Het
Vmn1r236 T A 17: 21,507,204 (GRCm39) N107K possibly damaging Het
Vmn2r88 A G 14: 51,656,100 (GRCm39) T770A Het
Zcchc2 C A 1: 105,958,211 (GRCm39) P894Q probably damaging Het
Zfhx2 A G 14: 55,303,229 (GRCm39) V1585A 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
R6306:Clcn7 UTSW 17 25,376,502 (GRCm39) missense probably benign 0.01
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
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'- CACTGTCGATTCTAAAGCATTGC -3'
(R):5'- CTGAGGCAAAAGCTTGTCCAC -3'

Sequencing Primer
(F):5'- AGCATTGCTTATGAAGGTTCCTG -3'
(R):5'- AGCTTGTCCACTGTCCATAGGAAG -3'
Posted On 2019-05-15