Incidental Mutation 'IGL01797:Clcn2'
ID 155395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcn2
Ensembl Gene ENSMUSG00000022843
Gene Name chloride channel, voltage-sensitive 2
Synonyms nmf240, Clc2, ClC-2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.584) question?
Stock # IGL01797
Quality Score
Status
Chromosome 16
Chromosomal Location 20521714-20536496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20531511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 178 (I178V)
Ref Sequence ENSEMBL: ENSMUSP00000122921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000021405] [ENSMUST00000120099] [ENSMUST00000131522] [ENSMUST00000232309]
AlphaFold Q9R0A1
Predicted Effect probably damaging
Transcript: ENSMUST00000007207
AA Change: I178V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: I178V

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 102 111 N/A INTRINSIC
Pfam:Voltage_CLC 151 555 1.2e-94 PFAM
Blast:CBS 595 644 3e-12 BLAST
low complexity region 666 680 N/A INTRINSIC
CBS 803 850 3.69e0 SMART
low complexity region 869 881 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021405
SMART Domains Protein: ENSMUSP00000021405
Gene: ENSMUSG00000021018

DomainStartEndE-ValueType
RPOL8c 2 147 5.28e-93 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120099
AA Change: I178V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: I178V

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 102 111 N/A INTRINSIC
Pfam:Voltage_CLC 151 538 5.6e-77 PFAM
Blast:CBS 578 627 4e-12 BLAST
low complexity region 649 663 N/A INTRINSIC
CBS 786 833 3.69e0 SMART
low complexity region 852 864 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123417
Predicted Effect probably damaging
Transcript: ENSMUST00000131522
AA Change: I178V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843
AA Change: I178V

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 102 111 N/A INTRINSIC
Pfam:Voltage_CLC 151 473 4.2e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144400
Predicted Effect probably damaging
Transcript: ENSMUST00000232309
AA Change: I134V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000231381
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,113,760 (GRCm39) V877A probably benign Het
Cnbp A G 6: 87,822,542 (GRCm39) probably benign Het
Coq8a A T 1: 179,997,284 (GRCm39) probably null Het
Dctn2 A G 10: 127,113,182 (GRCm39) D244G possibly damaging Het
Dync1h1 T A 12: 110,618,630 (GRCm39) probably null Het
Efcab15 T C 11: 103,089,794 (GRCm39) Y381C probably damaging Het
Faiml T C 9: 99,116,442 (GRCm39) K83E probably damaging Het
Fdx1 A T 9: 51,854,925 (GRCm39) C159* probably null Het
Fgd3 A T 13: 49,443,065 (GRCm39) V169E probably damaging Het
Ice1 G T 13: 70,772,065 (GRCm39) T51K probably damaging Het
Iqca1 A C 1: 90,072,541 (GRCm39) probably null Het
Jup C A 11: 100,272,498 (GRCm39) probably benign Het
Krt84 A G 15: 101,436,915 (GRCm39) V373A possibly damaging Het
Ndst4 T A 3: 125,476,802 (GRCm39) M9K probably damaging Het
Nomo1 T C 7: 45,706,086 (GRCm39) V480A probably damaging Het
Nsun5 A G 5: 135,404,225 (GRCm39) H344R probably damaging Het
Or13a21 A G 7: 139,998,931 (GRCm39) Y252H probably damaging Het
Or1e1f A T 11: 73,855,644 (GRCm39) D70V probably damaging Het
Pjvk T C 2: 76,487,883 (GRCm39) probably benign Het
Prkaa1 G A 15: 5,198,187 (GRCm39) D159N probably damaging Het
Sap130 T A 18: 31,831,721 (GRCm39) I736N probably damaging Het
Tlcd1 A G 11: 78,071,160 (GRCm39) probably null Het
Tpp1 T C 7: 105,398,459 (GRCm39) I286V probably benign Het
Ttll5 T A 12: 86,003,371 (GRCm39) I1069K possibly damaging Het
Ttn T G 2: 76,540,257 (GRCm39) E34243A possibly damaging Het
Uqcr10 A C 11: 4,654,179 (GRCm39) I43S possibly damaging Het
Ush2a T A 1: 187,995,706 (GRCm39) M159K probably damaging Het
Vmn2r121 G A X: 123,041,048 (GRCm39) probably benign Het
Vmn2r30 T A 7: 7,337,195 (GRCm39) D147V probably benign Het
Xntrpc T C 7: 101,739,753 (GRCm39) I559T possibly damaging Het
Zfp268 T A 4: 145,347,241 (GRCm39) N48K probably damaging Het
Other mutations in Clcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Clcn2 APN 16 20,522,391 (GRCm39) missense probably benign 0.08
IGL01657:Clcn2 APN 16 20,532,369 (GRCm39) missense probably damaging 1.00
IGL02557:Clcn2 APN 16 20,527,214 (GRCm39) missense probably damaging 1.00
IGL02624:Clcn2 APN 16 20,522,098 (GRCm39) missense probably damaging 0.98
IGL02819:Clcn2 APN 16 20,528,006 (GRCm39) nonsense probably null
IGL03329:Clcn2 APN 16 20,530,902 (GRCm39) missense probably damaging 1.00
Bemr14 UTSW 16 0 () unclassified
R0008:Clcn2 UTSW 16 20,529,140 (GRCm39) missense probably null 1.00
R0454:Clcn2 UTSW 16 20,529,178 (GRCm39) critical splice acceptor site probably null
R1101:Clcn2 UTSW 16 20,522,345 (GRCm39) missense probably damaging 1.00
R1466:Clcn2 UTSW 16 20,531,302 (GRCm39) splice site probably benign
R1824:Clcn2 UTSW 16 20,534,712 (GRCm39) missense probably benign 0.04
R4592:Clcn2 UTSW 16 20,527,892 (GRCm39) missense probably damaging 0.99
R5011:Clcn2 UTSW 16 20,525,965 (GRCm39) missense probably damaging 1.00
R5013:Clcn2 UTSW 16 20,525,965 (GRCm39) missense probably damaging 1.00
R5154:Clcn2 UTSW 16 20,522,053 (GRCm39) missense probably benign 0.01
R5374:Clcn2 UTSW 16 20,528,419 (GRCm39) missense possibly damaging 0.78
R5726:Clcn2 UTSW 16 20,529,285 (GRCm39) intron probably benign
R5787:Clcn2 UTSW 16 20,522,183 (GRCm39) missense probably damaging 1.00
R5992:Clcn2 UTSW 16 20,532,404 (GRCm39) missense possibly damaging 0.68
R6045:Clcn2 UTSW 16 20,530,438 (GRCm39) critical splice donor site probably null
R6663:Clcn2 UTSW 16 20,521,995 (GRCm39) makesense probably null
R6765:Clcn2 UTSW 16 20,526,418 (GRCm39) splice site probably null
R6825:Clcn2 UTSW 16 20,528,408 (GRCm39) utr 3 prime probably benign
R7872:Clcn2 UTSW 16 20,527,210 (GRCm39) missense probably damaging 0.99
R8028:Clcn2 UTSW 16 20,527,512 (GRCm39) missense possibly damaging 0.66
R8198:Clcn2 UTSW 16 20,525,946 (GRCm39) missense probably damaging 0.99
R8805:Clcn2 UTSW 16 20,532,168 (GRCm39) missense probably damaging 1.00
R8924:Clcn2 UTSW 16 20,530,930 (GRCm39) missense probably damaging 1.00
R8992:Clcn2 UTSW 16 20,531,080 (GRCm39) missense probably damaging 1.00
R9074:Clcn2 UTSW 16 20,531,414 (GRCm39) missense possibly damaging 0.78
R9101:Clcn2 UTSW 16 20,525,979 (GRCm39) missense probably benign 0.00
R9456:Clcn2 UTSW 16 20,534,702 (GRCm39) small deletion probably benign
Posted On 2014-02-04