Incidental Mutation 'R8671:Clcnkb'
ID 661152
Institutional Source Beutler Lab
Gene Symbol Clcnkb
Ensembl Gene ENSMUSG00000006216
Gene Name chloride channel, voltage-sensitive Kb
Synonyms Clcnk1l, Clck2
MMRRC Submission 068526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8671 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 141404353-141416014 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141412230 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 154 (T154S)
Ref Sequence ENSEMBL: ENSMUSP00000006378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006378] [ENSMUST00000105788]
AlphaFold Q9WUB6
Predicted Effect probably damaging
Transcript: ENSMUST00000006378
AA Change: T154S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216
AA Change: T154S

DomainStartEndE-ValueType
Pfam:Voltage_CLC 102 514 1.5e-77 PFAM
CBS 554 604 1.77e-2 SMART
Blast:CBS 629 678 1e-20 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000105788
AA Change: T154S

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216
AA Change: T154S

DomainStartEndE-ValueType
Pfam:Voltage_CLC 102 514 3.6e-72 PFAM
CBS 554 604 1.77e-2 SMART
Pfam:CBS 623 676 3.3e-5 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: This gene is a member of the CLC family of voltage-gated chloride channels. The gene is located adjacent to a highly similar chloride channel gene on chromosome 4. This gene is syntenic with human CLCNKA (geneID:1187). [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik C T 4: 73,942,929 (GRCm38) E145K probably damaging Het
4930430A15Rik T C 2: 111,229,532 (GRCm38) probably benign Het
4930467E23Rik T A 8: 19,734,759 (GRCm38) L203* probably null Het
Ambp A T 4: 63,150,419 (GRCm38) Y120* probably null Het
Ankrd36 C T 11: 5,629,312 (GRCm38) A192V probably benign Het
Apol7e A T 15: 77,717,603 (GRCm38) M134L probably benign Het
Atg9b A T 5: 24,386,109 (GRCm38) N774K probably benign Het
Catsperb T A 12: 101,594,337 (GRCm38) N862K possibly damaging Het
Ccdc7a T A 8: 128,920,467 (GRCm38) D648V probably damaging Het
Cfap54 G T 10: 92,955,072 (GRCm38) P1855T unknown Het
Cux1 C T 5: 136,250,600 (GRCm38) R609H probably damaging Het
Eif2ak4 A G 2: 118,422,186 (GRCm38) D413G possibly damaging Het
Elp1 A G 4: 56,771,453 (GRCm38) L948P probably damaging Het
Flnc T C 6: 29,443,502 (GRCm38) probably null Het
Grm5 T C 7: 88,116,290 (GRCm38) probably null Het
Hectd3 T G 4: 116,996,581 (GRCm38) F225V possibly damaging Het
Hpcal4 G T 4: 123,189,183 (GRCm38) M107I probably benign Het
Idh2 TCCCAGG T 7: 80,098,331 (GRCm38) probably benign Het
Larp4 C A 15: 100,010,458 (GRCm38) Q607K probably benign Het
Marchf8 A G 6: 116,401,854 (GRCm38) R250G probably benign Het
Med13 A C 11: 86,271,097 (GRCm38) N2135K probably damaging Het
Msh5 T A 17: 35,045,933 (GRCm38) R89* probably null Het
Musk T G 4: 58,286,051 (GRCm38) probably benign Het
Myo18b T C 5: 112,874,743 (GRCm38) Q261R unknown Het
Npr1 A T 3: 90,456,157 (GRCm38) probably benign Het
Nynrin T A 14: 55,870,442 (GRCm38) V1002E possibly damaging Het
Olfr1315-ps1 T A 2: 112,110,988 (GRCm38) K88M probably damaging Het
Or2l5 T C 16: 19,515,054 (GRCm38) Y194C possibly damaging Het
Or4c103 A T 2: 88,683,105 (GRCm38) F209Y probably benign Het
Or5w15 A T 2: 87,737,646 (GRCm38) L226Q probably damaging Het
Pcare G T 17: 71,751,377 (GRCm38) A435E probably benign Het
Pcdh9 T C 14: 93,888,650 (GRCm38) Y28C probably damaging Het
Pmpca G C 2: 26,395,034 (GRCm38) E424Q possibly damaging Het
Prkd1 T A 12: 50,388,408 (GRCm38) N512I probably benign Het
Pwwp2b C T 7: 139,256,410 (GRCm38) P589L probably damaging Het
Rasgrp4 G A 7: 29,143,027 (GRCm38) G242D probably damaging Het
Rcbtb1 T G 14: 59,230,524 (GRCm38) V480G probably damaging Het
Rptn A G 3: 93,398,194 (GRCm38) S945G probably benign Het
Slc22a2 C T 17: 12,605,976 (GRCm38) Q242* probably null Het
Slfn3 T A 11: 83,212,999 (GRCm38) V232E probably benign Het
Stab1 T A 14: 31,157,408 (GRCm38) K705M probably damaging Het
Syn2 C A 6: 115,278,167 (GRCm38) S480* probably null Het
Thsd4 A T 9: 60,394,445 (GRCm38) L189H probably damaging Het
Tinagl1 T C 4: 130,167,804 (GRCm38) T250A probably benign Het
Tnc A T 4: 64,017,446 (GRCm38) C418S probably damaging Het
Ube2q1 A G 3: 89,776,078 (GRCm38) E110G probably damaging Het
Wdfy4 G T 14: 32,971,765 (GRCm38) probably benign Het
Xcl1 T C 1: 164,931,850 (GRCm38) M94V probably benign Het
Zfp369 T C 13: 65,296,281 (GRCm38) S413P possibly damaging Het
Zfp454 A C 11: 50,873,768 (GRCm38) I279S possibly damaging Het
Zfp971 A C 2: 178,033,937 (GRCm38) Q443P probably damaging Het
Other mutations in Clcnkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02430:Clcnkb APN 4 141,409,390 (GRCm38) missense possibly damaging 0.85
IGL02750:Clcnkb APN 4 141,405,362 (GRCm38) critical splice acceptor site probably null
IGL02894:Clcnkb APN 4 141,407,819 (GRCm38) missense probably benign 0.00
R0193:Clcnkb UTSW 4 141,412,316 (GRCm38) missense possibly damaging 0.60
R1427:Clcnkb UTSW 4 141,405,309 (GRCm38) missense probably damaging 1.00
R1555:Clcnkb UTSW 4 141,411,739 (GRCm38) splice site probably null
R1572:Clcnkb UTSW 4 141,407,095 (GRCm38) missense possibly damaging 0.58
R1756:Clcnkb UTSW 4 141,415,214 (GRCm38) missense possibly damaging 0.77
R1776:Clcnkb UTSW 4 141,415,189 (GRCm38) splice site probably benign
R1879:Clcnkb UTSW 4 141,407,819 (GRCm38) missense possibly damaging 0.95
R2149:Clcnkb UTSW 4 141,408,017 (GRCm38) missense probably damaging 1.00
R2180:Clcnkb UTSW 4 141,409,508 (GRCm38) splice site probably null
R2307:Clcnkb UTSW 4 141,412,329 (GRCm38) missense probably damaging 1.00
R4393:Clcnkb UTSW 4 141,412,236 (GRCm38) missense probably benign 0.00
R4758:Clcnkb UTSW 4 141,407,849 (GRCm38) missense probably benign 0.00
R5416:Clcnkb UTSW 4 141,413,900 (GRCm38) missense probably benign 0.33
R5906:Clcnkb UTSW 4 141,412,299 (GRCm38) missense probably benign
R6185:Clcnkb UTSW 4 141,414,514 (GRCm38) missense probably benign 0.00
R6299:Clcnkb UTSW 4 141,410,723 (GRCm38) missense probably damaging 1.00
R6803:Clcnkb UTSW 4 141,405,328 (GRCm38) missense probably benign
R6877:Clcnkb UTSW 4 141,404,832 (GRCm38) missense probably benign 0.00
R7205:Clcnkb UTSW 4 141,408,635 (GRCm38) missense probably damaging 1.00
R7330:Clcnkb UTSW 4 141,410,612 (GRCm38) missense possibly damaging 0.67
R7332:Clcnkb UTSW 4 141,413,932 (GRCm38) missense probably null 0.83
R7393:Clcnkb UTSW 4 141,409,445 (GRCm38) missense probably benign
R7800:Clcnkb UTSW 4 141,414,522 (GRCm38) missense probably benign 0.16
R7889:Clcnkb UTSW 4 141,410,604 (GRCm38) missense probably benign 0.00
R8903:Clcnkb UTSW 4 141,407,849 (GRCm38) missense possibly damaging 0.68
Z1177:Clcnkb UTSW 4 141,407,951 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GGAATGGCCCAGCATCAAATC -3'
(R):5'- CTGCAAGTGCTTGTTACACAGG -3'

Sequencing Primer
(F):5'- AGCATCAAATCCTTGTCCTAGC -3'
(R):5'- CTTGTTACACAGGCGCTAAAAG -3'
Posted On 2021-03-08