Incidental Mutation 'R7901:Clcn6'
ID 609978
Institutional Source Beutler Lab
Gene Symbol Clcn6
Ensembl Gene ENSMUSG00000029016
Gene Name chloride channel, voltage-sensitive 6
Synonyms
MMRRC Submission 045953-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7901 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148088716-148123270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 148095202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 736 (R736H)
Ref Sequence ENSEMBL: ENSMUSP00000030879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030879] [ENSMUST00000105711] [ENSMUST00000137724]
AlphaFold O35454
Predicted Effect probably damaging
Transcript: ENSMUST00000030879
AA Change: R736H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: R736H

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
Pfam:Voltage_CLC 138 571 5.5e-98 PFAM
CBS 609 658 1.68e-3 SMART
CBS 811 859 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105711
AA Change: V728I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: V728I

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
Pfam:Voltage_CLC 141 574 1.5e-98 PFAM
CBS 612 661 1.68e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137724
AA Change: R739H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: R739H

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
Pfam:Voltage_CLC 141 574 1.9e-101 PFAM
CBS 612 661 1.68e-3 SMART
CBS 814 862 1.34e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: This gene encodes a member of the ClC chloride channel and transporter family of proteins. The encoded protein may function as a vesicular Cl-/H+ antiporter. Homozygous knockout mice exhibit decreased pain sensitivity, behavioral abnormalities and features of lysosomal storage disease. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,119,434 (GRCm39) probably null Het
Adpgk T C 9: 59,222,300 (GRCm39) V409A probably benign Het
Agfg2 A T 5: 137,665,966 (GRCm39) F98I probably damaging Het
Arhgap17 A T 7: 122,885,791 (GRCm39) probably benign Het
Asb8 T C 15: 98,040,614 (GRCm39) Y16C probably damaging Het
Atp6v0a2 C T 5: 124,779,485 (GRCm39) T200I probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccnt1 A T 15: 98,441,797 (GRCm39) D490E probably benign Het
Cenpf G T 1: 189,389,445 (GRCm39) D1462E probably damaging Het
Col4a2 A T 8: 11,479,358 (GRCm39) D747V probably benign Het
Cplane1 A G 15: 8,299,190 (GRCm39) E3126G unknown Het
Crybg3 T C 16: 59,377,907 (GRCm39) T1116A probably damaging Het
Csf1r T A 18: 61,243,368 (GRCm39) L128Q probably damaging Het
Ddx17 A T 15: 79,422,789 (GRCm39) D316E probably damaging Het
Ect2l T A 10: 18,017,712 (GRCm39) D681V possibly damaging Het
Ell2 A T 13: 75,912,105 (GRCm39) K464* probably null Het
Eme1 G T 11: 94,541,645 (GRCm39) P59Q probably damaging Het
Etl4 T C 2: 20,294,821 (GRCm39) S2P possibly damaging Het
Fndc9 T C 11: 46,128,576 (GRCm39) Y32H probably damaging Het
Frem1 G T 4: 82,877,614 (GRCm39) T1321K probably benign Het
Gabrg2 A G 11: 41,867,418 (GRCm39) V67A probably benign Het
Gm4553 ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG 7: 141,718,602 (GRCm39) probably benign Het
Gm5145 A C 17: 20,790,900 (GRCm39) I93L possibly damaging Het
Gpld1 T A 13: 25,146,758 (GRCm39) V240E probably damaging Het
Gsc T A 12: 104,439,131 (GRCm39) S82C possibly damaging Het
H2-T10 C T 17: 36,431,143 (GRCm39) E173K probably benign Het
Ifi213 A T 1: 173,394,784 (GRCm39) S584T probably benign Het
Klk1b1 T C 7: 43,620,669 (GRCm39) I253T probably damaging Het
Klra4 A G 6: 130,040,113 (GRCm39) L53P probably damaging Het
Lct A G 1: 128,216,722 (GRCm39) Y1697H probably benign Het
Mrs2 T A 13: 25,202,549 (GRCm39) D64V possibly damaging Het
Muc13 A G 16: 33,636,211 (GRCm39) Q565R probably damaging Het
Nlrp6 T C 7: 140,507,353 (GRCm39) V873A possibly damaging Het
Nup155 C T 15: 8,145,926 (GRCm39) P159L possibly damaging Het
Or10v1 A T 19: 11,873,898 (GRCm39) H171L probably benign Het
Or4m1 A T 14: 50,557,573 (GRCm39) S240T probably damaging Het
Or51a6 T C 7: 102,604,887 (GRCm39) probably null Het
Phip T G 9: 82,772,203 (GRCm39) M1115L probably benign Het
Ppip5k1 T C 2: 121,142,390 (GRCm39) Q1353R probably damaging Het
Ptprb C G 10: 116,205,333 (GRCm39) P1896A probably benign Het
Rgl2 T C 17: 34,154,799 (GRCm39) L601P possibly damaging Het
Sash1 C T 10: 8,656,328 (GRCm39) W221* probably null Het
Skint1 A C 4: 111,876,399 (GRCm39) T107P probably damaging Het
Slc45a4 G A 15: 73,477,621 (GRCm39) probably benign Het
Snx13 T A 12: 35,150,624 (GRCm39) D309E probably benign Het
Spcs1 A G 14: 30,722,628 (GRCm39) Y64H probably benign Het
Tep1 A T 14: 51,064,308 (GRCm39) Y2434N possibly damaging Het
Tnpo3 T C 6: 29,568,990 (GRCm39) E454G possibly damaging Het
Tsg101 G T 7: 46,563,183 (GRCm39) Q24K probably benign Het
Ttc6 C T 12: 57,735,353 (GRCm39) R1132W probably damaging Het
Unkl T C 17: 25,437,627 (GRCm39) S200P probably damaging Het
Uts2r G A 11: 121,052,234 (GRCm39) S366N probably benign Het
Wbp4 A T 14: 79,709,845 (GRCm39) V130E probably damaging Het
Zfp592 T G 7: 80,674,469 (GRCm39) S478A probably benign Het
Zfp664 A T 5: 124,962,839 (GRCm39) K78* probably null Het
Zfp738 A T 13: 67,821,110 (GRCm39) L79* probably null Het
Zfyve28 C T 5: 34,382,326 (GRCm39) R258Q probably damaging Het
Other mutations in Clcn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Clcn6 APN 4 148,102,359 (GRCm39) critical splice donor site probably null
IGL00434:Clcn6 APN 4 148,098,195 (GRCm39) missense probably damaging 1.00
IGL00973:Clcn6 APN 4 148,098,245 (GRCm39) splice site probably benign
IGL01384:Clcn6 APN 4 148,103,423 (GRCm39) missense probably damaging 1.00
IGL01465:Clcn6 APN 4 148,105,908 (GRCm39) splice site probably benign
IGL01522:Clcn6 APN 4 148,101,992 (GRCm39) missense probably benign 0.44
R0194:Clcn6 UTSW 4 148,097,213 (GRCm39) missense probably damaging 1.00
R0280:Clcn6 UTSW 4 148,093,172 (GRCm39) missense probably damaging 1.00
R0349:Clcn6 UTSW 4 148,108,651 (GRCm39) missense possibly damaging 0.89
R0352:Clcn6 UTSW 4 148,099,063 (GRCm39) missense probably damaging 1.00
R0586:Clcn6 UTSW 4 148,123,206 (GRCm39) unclassified probably benign
R0927:Clcn6 UTSW 4 148,113,849 (GRCm39) missense probably benign 0.30
R1141:Clcn6 UTSW 4 148,098,356 (GRCm39) missense probably damaging 0.99
R1465:Clcn6 UTSW 4 148,098,358 (GRCm39) missense probably damaging 1.00
R1465:Clcn6 UTSW 4 148,098,358 (GRCm39) missense probably damaging 1.00
R1473:Clcn6 UTSW 4 148,108,613 (GRCm39) missense possibly damaging 0.93
R1551:Clcn6 UTSW 4 148,097,235 (GRCm39) missense possibly damaging 0.74
R1571:Clcn6 UTSW 4 148,097,226 (GRCm39) missense possibly damaging 0.63
R1593:Clcn6 UTSW 4 148,099,051 (GRCm39) missense probably benign
R1596:Clcn6 UTSW 4 148,107,836 (GRCm39) missense probably damaging 1.00
R1706:Clcn6 UTSW 4 148,102,025 (GRCm39) missense probably benign 0.00
R1769:Clcn6 UTSW 4 148,098,758 (GRCm39) splice site probably null
R2021:Clcn6 UTSW 4 148,095,109 (GRCm39) critical splice donor site probably null
R2022:Clcn6 UTSW 4 148,095,109 (GRCm39) critical splice donor site probably null
R2049:Clcn6 UTSW 4 148,108,594 (GRCm39) missense possibly damaging 0.88
R2081:Clcn6 UTSW 4 148,095,525 (GRCm39) missense probably damaging 1.00
R2140:Clcn6 UTSW 4 148,108,594 (GRCm39) missense possibly damaging 0.88
R2141:Clcn6 UTSW 4 148,108,594 (GRCm39) missense possibly damaging 0.88
R2142:Clcn6 UTSW 4 148,108,594 (GRCm39) missense possibly damaging 0.88
R2177:Clcn6 UTSW 4 148,099,057 (GRCm39) missense possibly damaging 0.73
R2511:Clcn6 UTSW 4 148,101,951 (GRCm39) critical splice donor site probably null
R2891:Clcn6 UTSW 4 148,097,073 (GRCm39) critical splice donor site probably null
R3750:Clcn6 UTSW 4 148,108,644 (GRCm39) nonsense probably null
R4014:Clcn6 UTSW 4 148,102,067 (GRCm39) missense probably damaging 0.98
R4023:Clcn6 UTSW 4 148,098,740 (GRCm39) missense possibly damaging 0.91
R4024:Clcn6 UTSW 4 148,098,740 (GRCm39) missense possibly damaging 0.91
R4025:Clcn6 UTSW 4 148,098,740 (GRCm39) missense possibly damaging 0.91
R4667:Clcn6 UTSW 4 148,108,624 (GRCm39) missense possibly damaging 0.61
R4865:Clcn6 UTSW 4 148,104,223 (GRCm39) missense probably damaging 1.00
R4978:Clcn6 UTSW 4 148,093,227 (GRCm39) missense probably benign 0.05
R5140:Clcn6 UTSW 4 148,122,774 (GRCm39) unclassified probably benign
R5345:Clcn6 UTSW 4 148,123,206 (GRCm39) unclassified probably benign
R5467:Clcn6 UTSW 4 148,102,093 (GRCm39) missense possibly damaging 0.81
R5665:Clcn6 UTSW 4 148,099,018 (GRCm39) missense possibly damaging 0.71
R5739:Clcn6 UTSW 4 148,098,646 (GRCm39) missense probably damaging 1.00
R5899:Clcn6 UTSW 4 148,102,049 (GRCm39) missense probably benign 0.01
R6043:Clcn6 UTSW 4 148,093,245 (GRCm39) missense probably damaging 1.00
R6351:Clcn6 UTSW 4 148,101,957 (GRCm39) missense probably benign 0.01
R6593:Clcn6 UTSW 4 148,095,226 (GRCm39) missense probably benign 0.21
R7440:Clcn6 UTSW 4 148,098,652 (GRCm39) missense probably damaging 1.00
R7674:Clcn6 UTSW 4 148,097,151 (GRCm39) missense probably damaging 1.00
R7756:Clcn6 UTSW 4 148,113,896 (GRCm39) missense probably damaging 1.00
R8559:Clcn6 UTSW 4 148,111,032 (GRCm39) missense possibly damaging 0.88
R8747:Clcn6 UTSW 4 148,093,354 (GRCm39) critical splice donor site probably null
R9246:Clcn6 UTSW 4 148,113,866 (GRCm39) missense probably benign 0.25
R9343:Clcn6 UTSW 4 148,098,458 (GRCm39) missense probably benign 0.03
V7732:Clcn6 UTSW 4 148,098,412 (GRCm39) missense probably damaging 0.96
Z1177:Clcn6 UTSW 4 148,107,827 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCTCTGTACACAACACATGC -3'
(R):5'- CAACGTGTGTGATGAGCATG -3'

Sequencing Primer
(F):5'- CACTCAAGCACCTCTTCCGG -3'
(R):5'- CATGTGGCTTCTGAGGAGCC -3'
Posted On 2019-12-20