Mutagenetix > Incidental Mutation

Incidental Mutation 'R6765:Clcn2'

531888

Institutional Source

Beutler Lab

Gene Symbol

Clcn2

Ensembl Gene

ENSMUSG00000022843

Gene Name

chloride channel, voltage-sensitive 2

Synonyms

ClC-2, nmf240, Clc2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

R6765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20702964-20717746 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 20707668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000056518] [ENSMUST00000118919] [ENSMUST00000120099] [ENSMUST00000131522] [ENSMUST00000232309]

AlphaFold

Q9R0A1

Predicted Effect

probably null
Transcript: ENSMUST00000007207

SMART Domains

Protein: ENSMUSP00000007207
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	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: ENSMUST00000056518

SMART Domains

Protein: ENSMUSP00000060194
Gene: ENSMUSG00000050821

Domain	Start	End	E-Value	Type
low complexity region	45	60	N/A	INTRINSIC
Pfam:FAM131	80	356	6.4e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118919

SMART Domains

Protein: ENSMUSP00000113719
Gene: ENSMUSG00000050821

Domain	Start	End	E-Value	Type
Pfam:FAM131	1	271	4e-119	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120099

SMART Domains

Protein: ENSMUSP00000112759
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	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

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: ENSMUST00000231381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232309

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	G	T	3: 88,686,429	G42W	probably damaging	Het
3110002H16Rik	A	G	18: 12,176,146	N92D	possibly damaging	Het
Adamtsl3	C	A	7: 82,567,024	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,357,242	F336V	possibly damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Aoc1	A	G	6: 48,905,937	N249S	probably benign	Het
Ap1b1	T	A	11: 5,019,427	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,462,509	D530E	probably benign	Het
Arid4b	T	A	13: 14,187,315	M788K	possibly damaging	Het
Atp2c2	A	T	8: 119,753,017	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,776,343	R134L	probably damaging	Het
Cacna2d3	T	C	14: 29,055,977	D687G	probably damaging	Het
Ccdc136	G	A	6: 29,405,941	M95I	probably benign	Het
Cdk12	T	A	11: 98,224,529	I832N	unknown	Het
Csrnp2	C	T	15: 100,482,693	R239Q	probably damaging	Het
Dhrs13	T	A	11: 78,037,139	D270E	probably benign	Het
Dlgap2	G	A	8: 14,743,284	G426D	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Fam120a	A	G	13: 48,891,964	Y799H	probably damaging	Het
Fam160b1	A	G	19: 57,378,745	D240G	probably benign	Het
Farp1	G	A	14: 121,222,654	V112I	probably benign	Het
Fsip2	A	G	2: 82,986,432	I4170V	probably benign	Het
Gm12185	A	G	11: 48,915,704	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,167,122	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,871,788	R7*	probably null	Het
Itih3	C	T	14: 30,909,473	G822D	probably benign	Het
Kcnu1	A	T	8: 25,913,645	D728V	probably damaging	Het
Lnpep	G	A	17: 17,530,496	T976I	probably damaging	Het
Map1b	A	C	13: 99,425,941	H2420Q	unknown	Het
Mc1r	A	G	8: 123,407,696	K63E	probably damaging	Het
Mpped1	G	A	15: 83,836,383	V15M	probably damaging	Het
Ncor1	T	C	11: 62,373,446	T103A	probably benign	Het
Nhsl1	A	T	10: 18,531,314	T1399S	probably benign	Het
Nlrc5	C	T	8: 94,490,368	T995M	probably benign	Het
Nrbp1	G	A	5: 31,245,846		probably null	Het
Olfr1065	T	C	2: 86,445,236	T249A	probably benign	Het
Olfr1221	G	T	2: 89,112,296	T72N	possibly damaging	Het
Olfr979	A	C	9: 40,001,197	F10C	probably damaging	Het
Pcdhb13	T	C	18: 37,443,610	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,058,339	T4047A	probably benign	Het
Prrt2	T	A	7: 127,019,597	D232V	probably damaging	Het
Psmd5	A	C	2: 34,856,533	M344R	probably benign	Het
Pwp1	G	A	10: 85,884,533	E345K	probably damaging	Het
Qsox1	A	G	1: 155,791,105	Y213H	probably benign	Het
Sclt1	T	C	3: 41,730,902	R39G	unknown	Het
Syne1	A	T	10: 5,143,285		probably null	Het
Tmem163	G	T	1: 127,551,341	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,364,100	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,209,309	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,877,765	D1929E	probably damaging	Het
Upb1	A	T	10: 75,438,144	D335V	probably damaging	Het
Vps26b	T	C	9: 27,012,808	E213G	probably damaging	Het
Vwc2	C	T	11: 11,154,215	T249I	probably benign	Het
Wwc2	A	G	8: 47,900,791	Y103H	possibly damaging	Het
Zan	A	G	5: 137,393,147	C4692R	unknown	Het
Zfp106	T	C	2: 120,539,454	E29G	probably damaging	Het
Zfp551	G	A	7: 12,416,840	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,537,906	H429Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAGTCACTCTAGGAGGGAG -3'
(R):5'- ACATCAGAAGTGAGTAGCCCGG -3'

Sequencing Primer
(F):5'- AAGGTGGATGTACCCCTGG -3'
(R):5'- AGTGAGTAGCCCGGATGCTG -3'

Posted On

2018-08-29