Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03329:Clcn2'

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

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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