Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02819:Clcn2'

360920

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 non essential (E-score: 0.279) question?

Stock #

IGL02819

Quality Score

Status

Chromosome

Chromosomal Location

20702964-20717746 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 20709256 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 487 (E487*)

Ref Sequence

ENSEMBL: ENSMUSP00000155857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000120099] [ENSMUST00000131522] [ENSMUST00000232309]

Predicted Effect

probably null
Transcript: ENSMUST00000007207
AA Change: E531*

SMART Domains

Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: E531*

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 null
Transcript: ENSMUST00000120099
AA Change: E514*

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: E514*

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 benign
Transcript: ENSMUST00000131522

SMART Domains

Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843

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

probably benign
Transcript: ENSMUST00000231381

Predicted Effect

probably null
Transcript: ENSMUST00000232309
AA Change: E487*

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	C	T	13: 54,564,220		probably benign	Het
Abcb8	T	A	5: 24,406,424	N470K	probably benign	Het
Adamtsl3	A	T	7: 82,574,121	N1037Y	probably damaging	Het
Adcy3	T	C	12: 4,206,986		probably benign	Het
Ankrd35	A	G	3: 96,690,208	D983G	possibly damaging	Het
Asf1a	A	G	10: 53,607,824	T118A	probably benign	Het
Atp2a3	T	C	11: 72,977,207	Y389H	probably damaging	Het
Atp5b	T	C	10: 128,083,952	I63T	probably damaging	Het
C2cd5	A	G	6: 143,083,220	Y98H	probably benign	Het
Caprin2	A	G	6: 148,848,258	V518A	probably damaging	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Cog6	T	A	3: 53,009,545	K184M	probably damaging	Het
Cpn1	A	G	19: 43,968,468	Y286H	probably damaging	Het
Cpne9	A	T	6: 113,300,663	S448C	probably damaging	Het
Csnk2a1	G	T	2: 152,274,085		probably benign	Het
Cys1	T	C	12: 24,667,170	E132G	possibly damaging	Het
Depdc7	T	C	2: 104,724,726	M280V	probably benign	Het
Fhad1	C	T	4: 141,918,758	D298N	probably benign	Het
Golga1	T	A	2: 39,039,078	N318Y	probably null	Het
Hsd3b6	A	G	3: 98,810,946	V34A	probably benign	Het
Krt9	A	G	11: 100,191,520	I193T	probably damaging	Het
Lama4	A	T	10: 39,026,569	I180F	possibly damaging	Het
Lamc1	T	C	1: 153,250,661	T458A	probably damaging	Het
Lin28b	A	T	10: 45,470,059	M1K	probably null	Het
Myo16	T	C	8: 10,322,600	C100R	probably damaging	Het
Nt5c3	A	T	6: 56,883,733	M279K	probably damaging	Het
Ppfia2	A	G	10: 106,906,394	Y1016C	probably damaging	Het
Rpl6	A	G	5: 121,207,201		probably benign	Het
Rpn2	G	T	2: 157,316,210		probably null	Het
Rspry1	T	C	8: 94,654,256	V396A	probably benign	Het
Serpina3i	C	T	12: 104,268,502	T364I	probably damaging	Het
Shprh	A	G	10: 11,154,765	K242R	possibly damaging	Het
Slit3	A	G	11: 35,171,590	N72S	possibly damaging	Het
Syt17	G	A	7: 118,409,920		probably benign	Het
Tatdn3	C	A	1: 191,055,344	A114S	probably benign	Het
Tjp2	A	G	19: 24,114,105	V564A	probably damaging	Het
Tmem117	T	C	15: 94,879,372		probably benign	Het
Tnfrsf8	T	C	4: 145,269,133	E452G	probably damaging	Het
Tns1	T	C	1: 73,937,248	D1147G	probably damaging	Het
Traf6	T	C	2: 101,684,789	S97P	probably damaging	Het
Ttc28	A	T	5: 111,266,583	E1321D	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
IGL03329:Clcn2	APN	16	20712152	missense	probably damaging	1.00
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	intron	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

Posted On

2015-12-18