Incidental Mutation 'IGL03329:Clcn2'
ID 416808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcn2
Ensembl Gene ENSMUSG00000022843
Gene Name chloride channel, voltage-sensitive 2
Synonyms ClC-2, nmf240, Clc2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.549) question?
Stock # IGL03329
Quality Score
Status
Chromosome 16
Chromosomal Location 20702964-20717746 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20712152 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 276 (T276I)
Ref Sequence ENSEMBL: ENSMUSP00000122921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000120099] [ENSMUST00000131522] [ENSMUST00000232309]
AlphaFold Q9R0A1
Predicted Effect probably damaging
Transcript: ENSMUST00000007207
AA Change: T276I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: T276I

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 damaging
Transcript: ENSMUST00000120099
AA Change: T276I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: T276I

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: T276I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843
AA Change: T276I

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: ENSMUST00000132512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153075
Predicted Effect unknown
Transcript: ENSMUST00000231381
AA Change: T36I
Predicted Effect probably damaging
Transcript: ENSMUST00000232309
AA Change: T232I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,298,047 D2598G probably benign Het
Abcf2 T G 5: 24,571,248 probably null Het
Acsl1 T A 8: 46,492,994 C55S possibly damaging Het
Adam22 T A 5: 8,149,210 M249L possibly damaging Het
Alk A G 17: 71,899,164 probably benign Het
Ambn T G 5: 88,461,668 S78R probably benign Het
Apbb1ip T A 2: 22,867,717 V449D possibly damaging Het
Atp13a5 A T 16: 29,334,065 Y194* probably null Het
Cacul1 A T 19: 60,543,051 F260Y probably damaging Het
Cfap46 A G 7: 139,601,165 I2640T probably damaging Het
Chd7 T C 4: 8,841,108 S1446P probably damaging Het
Dcbld1 T G 10: 52,319,625 Y310D probably damaging Het
Dennd4c G A 4: 86,777,876 V157I probably damaging Het
Dennd5b G T 6: 148,998,260 T1213K possibly damaging Het
Dusp8 A T 7: 142,084,360 L177* probably null Het
Erbb4 T C 1: 68,328,122 S479G probably benign Het
Gpbp1 T A 13: 111,453,253 probably benign Het
Hmcn1 T A 1: 150,732,910 Q1507L probably damaging Het
Inppl1 G T 7: 101,824,380 T1021K possibly damaging Het
Klk1b9 A G 7: 43,979,414 E114G probably benign Het
Klre1 T C 6: 129,585,697 probably benign Het
Lancl1 T C 1: 67,021,050 Y72C probably damaging Het
Lexm G T 4: 106,607,404 R353S possibly damaging Het
Lilra6 A G 7: 3,914,648 probably benign Het
Magi2 T C 5: 20,466,128 V490A possibly damaging Het
Myo3b T A 2: 70,254,459 N720K probably damaging Het
Olfr1018 A C 2: 85,823,385 D138A probably benign Het
Olfr857 T C 9: 19,713,301 V158A probably benign Het
Ppp2r3a T A 9: 101,126,431 probably benign Het
Rbm47 T C 5: 66,026,693 D189G probably damaging Het
Scn2a G A 2: 65,764,629 D1941N probably benign Het
Sgpp2 T C 1: 78,390,563 I111T probably benign Het
Sh3bp2 T C 5: 34,559,202 V319A probably benign Het
Slc12a3 A C 8: 94,365,891 Q980P possibly damaging Het
Slc39a8 G T 3: 135,884,713 G389V probably damaging Het
Slc5a3 T C 16: 92,077,460 I135T probably damaging Het
Smu1 A G 4: 40,739,568 V414A possibly damaging Het
Tlr12 A G 4: 128,616,852 F535S possibly damaging Het
Trim47 A G 11: 116,106,428 V501A probably damaging Het
Vmn1r16 A T 6: 57,323,618 N6K probably damaging Het
Vwce G A 19: 10,659,996 C711Y possibly damaging Het
Wdr25 C T 12: 108,898,336 L136F probably benign Het
Xpo1 A G 11: 23,284,306 Q437R probably benign Het
Zfp169 C A 13: 48,490,794 probably benign Het
Zfp607b A T 7: 27,703,870 I584F probably damaging Het
Zzef1 T A 11: 72,917,273 probably benign Het
Other mutations in Clcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Clcn2 APN 16 20703641 missense probably benign 0.08
IGL01657:Clcn2 APN 16 20713619 missense probably damaging 1.00
IGL01797:Clcn2 APN 16 20712761 missense probably damaging 1.00
IGL02557:Clcn2 APN 16 20708464 missense probably damaging 1.00
IGL02624:Clcn2 APN 16 20703348 missense probably damaging 0.98
IGL02819:Clcn2 APN 16 20709256 nonsense probably null
Bemr14 UTSW 16 unclassified
R0008:Clcn2 UTSW 16 20710390 missense probably null 1.00
R0454:Clcn2 UTSW 16 20710428 critical splice acceptor site probably null
R1101:Clcn2 UTSW 16 20703595 missense probably damaging 1.00
R1466:Clcn2 UTSW 16 20712552 splice site probably benign
R1824:Clcn2 UTSW 16 20715962 missense probably benign 0.04
R4592:Clcn2 UTSW 16 20709142 missense probably damaging 0.99
R5011:Clcn2 UTSW 16 20707215 missense probably damaging 1.00
R5013:Clcn2 UTSW 16 20707215 missense probably damaging 1.00
R5154:Clcn2 UTSW 16 20703303 missense probably benign 0.01
R5374:Clcn2 UTSW 16 20709669 missense possibly damaging 0.78
R5726:Clcn2 UTSW 16 20710535 intron probably benign
R5787:Clcn2 UTSW 16 20703433 missense probably damaging 1.00
R5992:Clcn2 UTSW 16 20713654 missense possibly damaging 0.68
R6045:Clcn2 UTSW 16 20711688 critical splice donor site probably null
R6663:Clcn2 UTSW 16 20703245 makesense probably null
R6765:Clcn2 UTSW 16 20707668 splice site probably null
R6825:Clcn2 UTSW 16 20709658 utr 3 prime probably benign
R7872:Clcn2 UTSW 16 20708460 missense probably damaging 0.99
R8028:Clcn2 UTSW 16 20708762 missense possibly damaging 0.66
R8198:Clcn2 UTSW 16 20707196 missense probably damaging 0.99
R8805:Clcn2 UTSW 16 20713418 missense probably damaging 1.00
R8924:Clcn2 UTSW 16 20712180 missense probably damaging 1.00
R8992:Clcn2 UTSW 16 20712330 missense probably damaging 1.00
R9074:Clcn2 UTSW 16 20712664 missense possibly damaging 0.78
R9101:Clcn2 UTSW 16 20707229 missense probably benign 0.00
R9456:Clcn2 UTSW 16 20715952 small deletion probably benign
Posted On 2016-08-02