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

nmf240, Clc2, ClC-2

MMRRC Submission

044881-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R6765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20521714-20536496 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 20526418 bp (GRCm39)

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
Adamtsl3	C	A	7: 82,216,232 (GRCm39)	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,334,203 (GRCm39)	F336V	possibly damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aoc1	A	G	6: 48,882,871 (GRCm39)	N249S	probably benign	Het
Ap1b1	T	A	11: 4,969,427 (GRCm39)	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,599,017 (GRCm39)	D530E	probably benign	Het
Arid4b	T	A	13: 14,361,900 (GRCm39)	M788K	possibly damaging	Het
Atp2c2	A	T	8: 120,479,756 (GRCm39)	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,418,136 (GRCm39)	R134L	probably damaging	Het
Cacna2d3	T	C	14: 28,777,934 (GRCm39)	D687G	probably damaging	Het
Ccdc136	G	A	6: 29,405,940 (GRCm39)	M95I	probably benign	Het
Cdk12	T	A	11: 98,115,355 (GRCm39)	I832N	unknown	Het
Csrnp2	C	T	15: 100,380,574 (GRCm39)	R239Q	probably damaging	Het
Dhrs13	T	A	11: 77,927,965 (GRCm39)	D270E	probably benign	Het
Dlgap2	G	A	8: 14,793,284 (GRCm39)	G426D	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fam120a	A	G	13: 49,045,440 (GRCm39)	Y799H	probably damaging	Het
Farp1	G	A	14: 121,460,066 (GRCm39)	V112I	probably benign	Het
Fhip2a	A	G	19: 57,367,177 (GRCm39)	D240G	probably benign	Het
Fsip2	A	G	2: 82,816,776 (GRCm39)	I4170V	probably benign	Het
Gm12185	A	G	11: 48,806,531 (GRCm39)	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,094,860 (GRCm39)	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,860,227 (GRCm39)	R7*	probably null	Het
Itih3	C	T	14: 30,631,430 (GRCm39)	G822D	probably benign	Het
Kcnu1	A	T	8: 26,403,673 (GRCm39)	D728V	probably damaging	Het
Khdc4	G	T	3: 88,593,736 (GRCm39)	G42W	probably damaging	Het
Lnpep	G	A	17: 17,750,758 (GRCm39)	T976I	probably damaging	Het
Map1b	A	C	13: 99,562,449 (GRCm39)	H2420Q	unknown	Het
Mc1r	A	G	8: 124,134,435 (GRCm39)	K63E	probably damaging	Het
Mpped1	G	A	15: 83,720,584 (GRCm39)	V15M	probably damaging	Het
Ncor1	T	C	11: 62,264,272 (GRCm39)	T103A	probably benign	Het
Nhsl1	A	T	10: 18,407,062 (GRCm39)	T1399S	probably benign	Het
Nlrc5	C	T	8: 95,216,996 (GRCm39)	T995M	probably benign	Het
Nrbp1	G	A	5: 31,403,190 (GRCm39)		probably null	Het
Or10g9	A	C	9: 39,912,493 (GRCm39)	F10C	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or8k27	T	C	2: 86,275,580 (GRCm39)	T249A	probably benign	Het
Pcdhb13	T	C	18: 37,576,663 (GRCm39)	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,128,563 (GRCm39)	T4047A	probably benign	Het
Prrt2	T	A	7: 126,618,769 (GRCm39)	D232V	probably damaging	Het
Psmd5	A	C	2: 34,746,545 (GRCm39)	M344R	probably benign	Het
Pwp1	G	A	10: 85,720,397 (GRCm39)	E345K	probably damaging	Het
Qsox1	A	G	1: 155,666,851 (GRCm39)	Y213H	probably benign	Het
Rmc1	A	G	18: 12,309,203 (GRCm39)	N92D	possibly damaging	Het
Sclt1	T	C	3: 41,685,337 (GRCm39)	R39G	unknown	Het
Syne1	A	T	10: 5,093,285 (GRCm39)		probably null	Het
Tmem163	G	T	1: 127,479,078 (GRCm39)	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,601,557 (GRCm39)	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,039,790 (GRCm39)	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,855,129 (GRCm39)	D1929E	probably damaging	Het
Upb1	A	T	10: 75,273,978 (GRCm39)	D335V	probably damaging	Het
Vps26b	T	C	9: 26,924,104 (GRCm39)	E213G	probably damaging	Het
Vwc2	C	T	11: 11,104,215 (GRCm39)	T249I	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zan	A	G	5: 137,391,409 (GRCm39)	C4692R	unknown	Het
Zfp106	T	C	2: 120,369,935 (GRCm39)	E29G	probably damaging	Het
Zfp551	G	A	7: 12,150,767 (GRCm39)	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,622,363 (GRCm39)	H429Q	probably benign	Het

Other mutations in Clcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01797:Clcn2	APN	16	20,531,511 (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
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

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