Incidental Mutation 'R9343:Clcn6'
ID 715971
Institutional Source Beutler Lab
Gene Symbol Clcn6
Ensembl Gene ENSMUSG00000029016
Gene Name chloride channel, voltage-sensitive 6
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R9343 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148088716-148123270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148098458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 519 (S519P)
Ref Sequence ENSEMBL: ENSMUSP00000030879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030879] [ENSMUST00000105711] [ENSMUST00000137724]
AlphaFold O35454
Predicted Effect probably benign
Transcript: ENSMUST00000030879
AA Change: S519P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030879
Gene: ENSMUSG00000029016
AA Change: S519P

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: S522P

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101336
Gene: ENSMUSG00000029016
AA Change: S522P

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 benign
Transcript: ENSMUST00000137724
AA Change: S522P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121751
Gene: ENSMUSG00000029016
AA Change: S522P

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: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A G 2: 103,547,505 (GRCm39) I960V probably benign Het
Alpk3 A G 7: 80,742,079 (GRCm39) D632G probably benign Het
Aplp2 A T 9: 31,122,935 (GRCm39) L30Q unknown Het
Axl A T 7: 25,473,544 (GRCm39) Y361N probably damaging Het
Brinp2 A T 1: 158,077,090 (GRCm39) probably benign Het
Bsn T C 9: 107,992,701 (GRCm39) D1017G probably damaging Het
Cc2d2a A T 5: 43,875,999 (GRCm39) D1046V probably damaging Het
Cdc42bpg G A 19: 6,364,553 (GRCm39) G594S probably damaging Het
Cnot2 T G 10: 116,346,326 (GRCm39) H92P Het
Col2a1 T C 15: 97,877,775 (GRCm39) D1049G probably damaging Het
Creld1 C T 6: 113,466,728 (GRCm39) A237V probably benign Het
Csf2rb2 A T 15: 78,171,287 (GRCm39) probably benign Het
Csmd3 G A 15: 48,015,001 (GRCm39) T643I probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fcmr A T 1: 130,802,072 (GRCm39) T109S Het
Grap C A 11: 61,562,551 (GRCm39) P174Q possibly damaging Het
Itgb5 T A 16: 33,730,826 (GRCm39) probably benign Het
Kidins220 A G 12: 25,058,078 (GRCm39) N561S probably damaging Het
Mri1 A T 8: 84,983,796 (GRCm39) S32T probably benign Het
Mrtfb T C 16: 13,218,791 (GRCm39) V479A probably benign Het
Muc4 A T 16: 32,569,971 (GRCm39) T344S possibly damaging Het
Npc1 A G 18: 12,334,769 (GRCm39) I661T possibly damaging Het
Npy1r A G 8: 67,156,751 (GRCm39) N57S probably damaging Het
Pds5b A G 5: 150,704,186 (GRCm39) D863G probably damaging Het
Phf14 T A 6: 11,961,563 (GRCm39) V400D probably damaging Het
Polr2l A G 7: 141,053,246 (GRCm39) I56T probably benign Het
Ppat A G 5: 77,063,884 (GRCm39) I422T probably benign Het
Prkcg T A 7: 3,359,124 (GRCm39) S110R possibly damaging Het
Rab7b A T 1: 131,639,540 (GRCm39) probably benign Het
Rnf152 A T 1: 105,212,251 (GRCm39) L102Q Het
Samd12 A G 15: 53,583,088 (GRCm39) V82A probably damaging Het
Serpina1e T A 12: 103,917,299 (GRCm39) R123S probably benign Het
Slit1 T A 19: 41,615,737 (GRCm39) N794I probably damaging Het
Surf6 T C 2: 26,783,006 (GRCm39) K154R probably damaging Het
Tln2 C T 9: 67,230,353 (GRCm39) A71T probably benign Het
Trim3 A G 7: 105,260,673 (GRCm39) Y649H probably benign Het
Ttll7 T A 3: 146,667,497 (GRCm39) W808R probably damaging Het
Tvp23a T C 16: 10,245,287 (GRCm39) D104G probably damaging Het
Upp2 A G 2: 58,645,339 (GRCm39) probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r119 A G 7: 20,746,358 (GRCm39) V8A probably benign Het
Vmn1r209 T A 13: 22,990,546 (GRCm39) H48L probably damaging Het
Wdr11 T C 7: 129,232,523 (GRCm39) probably null Het
Zcchc17 T C 4: 130,210,546 (GRCm39) D207G probably damaging Het
Zfp78 T C 7: 6,381,942 (GRCm39) S331P 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
R7901:Clcn6 UTSW 4 148,095,202 (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
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'- CTGAAGACAGGCCTTGAAGG -3'
(R):5'- TTTGGCACATCTGTCCCCAG -3'

Sequencing Primer
(F):5'- AGGCCTTGAAGGGAGCCTG -3'
(R):5'- CCTTCCCTGCTGTGTGGAG -3'
Posted On 2022-06-15