Mutagenetix > Incidental Mutation

Incidental Mutation 'R0008:Clcn2'

58265

Institutional Source

Beutler Lab

Gene Symbol

Clcn2

Ensembl Gene

ENSMUSG00000022843

Gene Name

chloride channel, voltage-sensitive 2

Synonyms

ClC-2, nmf240, Clc2

MMRRC Submission

038303-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.454) question?

Stock #

R0008 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

20702964-20717746 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20710390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 367 (N367S)

Ref Sequence

ENSEMBL: ENSMUSP00000155857 (fasta)

Gene Model

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

AlphaFold

Q9R0A1

Predicted Effect

probably null
Transcript: ENSMUST00000007207
AA Change: N411S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: N411S

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: N411S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: N411S

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 null
Transcript: ENSMUST00000120099
AA Change: N411S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: N411S

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: N411S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843
AA Change: N411S

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: N367S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5221

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (109/111)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 138,176,585	K118R	possibly damaging	Het
Adtrp	T	C	13: 41,767,465	T88A	probably damaging	Het
Afap1l1	A	G	18: 61,756,905	S87P	probably benign	Het
Ankrd27	A	G	7: 35,603,700	K196R	probably benign	Het
Apoe	G	A	7: 19,697,080	T79M	probably damaging	Het
Arrdc3	T	A	13: 80,883,892	Y81*	probably null	Het
Arrdc3	T	A	13: 80,891,075	I75N	probably damaging	Het
Asah2	T	A	19: 32,003,731	K629*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
C130074G19Rik	A	G	1: 184,882,922	S24P	probably benign	Het
C87436	A	G	6: 86,446,283		probably benign	Het
Calcrl	T	C	2: 84,373,274	D54G	probably benign	Het
Cnot1	G	T	8: 95,761,341	D562E	probably damaging	Het
Commd6	G	A	14: 101,640,273		probably benign	Het
Cox6a2	G	A	7: 128,206,040		probably benign	Het
Cp	T	A	3: 19,968,123	Y230N	probably damaging	Het
Dclre1c	T	C	2: 3,437,995	V64A	probably damaging	Het
Eng	T	C	2: 32,677,680	V110A	probably damaging	Het
Esyt3	T	C	9: 99,338,807	I114M	possibly damaging	Het
Fam83h	A	T	15: 76,003,962	Y509N	probably damaging	Het
Fat2	A	T	11: 55,311,249	L333H	probably damaging	Het
Fbxo21	A	G	5: 118,008,013	N567S	possibly damaging	Het
Fn1	A	T	1: 71,595,720	L1964Q	probably damaging	Het
Fuk	T	C	8: 110,884,233		probably benign	Het
Gorasp1	G	T	9: 119,928,246	S353R	possibly damaging	Het
Grk2	C	T	19: 4,287,234	E646K	probably damaging	Het
Hoxc11	T	C	15: 102,954,962	V146A	probably damaging	Het
Igf2bp2	T	C	16: 22,076,091	T301A	probably benign	Het
Il11	T	C	7: 4,773,659	S111G	probably benign	Het
Ist1	A	T	8: 109,676,786	I273K	probably benign	Het
Kdm2b	G	A	5: 122,881,743	S738L	probably benign	Het
Lrp2	T	A	2: 69,516,551	N784Y	probably benign	Het
Lrp6	T	C	6: 134,485,753	E648G	probably damaging	Het
Mapk15	G	A	15: 75,998,254	E408K	probably benign	Het
Mdn1	T	A	4: 32,718,317	F2191I	possibly damaging	Het
Metrn	C	A	17: 25,796,505	V79F	possibly damaging	Het
Mtbp	T	A	15: 55,586,493		probably benign	Het
Myh11	C	A	16: 14,224,019	Q720H	probably damaging	Het
Myo3a	T	A	2: 22,579,741	I508N	probably damaging	Het
Nat9	A	T	11: 115,185,115	Y27N	probably damaging	Het
Ncapg2	T	C	12: 116,429,835	F553S	probably damaging	Het
Nipsnap3b	T	A	4: 53,015,112	L53Q	probably damaging	Het
Nlrp3	A	T	11: 59,558,448	H852L	probably benign	Het
Olfr1251	T	A	2: 89,667,084	K267N	probably damaging	Het
Olfr1484	A	G	19: 13,585,876	I191V	probably benign	Het
Olfr1532-ps1	A	G	7: 106,915,019	I274V	probably benign	Het
Olfr594	A	T	7: 103,220,351	D211V	probably damaging	Het
Olfr594	G	A	7: 103,220,377	A220T	probably benign	Het
Olfr720	T	A	14: 14,176,092		probably benign	Het
Pax9	A	G	12: 56,709,743	T289A	probably benign	Het
Pcyt2	A	T	11: 120,615,869	I53N	possibly damaging	Het
Pdlim4	C	T	11: 54,055,049	V327M	probably damaging	Het
Pdzph1	T	A	17: 58,922,761		probably benign	Het
Plekhm2	C	T	4: 141,642,393		probably benign	Het
Ppt1	T	C	4: 122,848,423		probably benign	Het
Prdm1	C	T	10: 44,441,679	E398K	probably damaging	Het
Prep	T	C	10: 45,115,078	V280A	probably benign	Het
Prkdc	T	A	16: 15,708,701		probably benign	Het
Proser3	G	A	7: 30,540,138	R514C	probably damaging	Het
Ptk7	G	A	17: 46,572,762		probably benign	Het
Rbm45	T	C	2: 76,378,398	Y293H	probably damaging	Het
Rnf213	A	C	11: 119,465,052	E4108A	possibly damaging	Het
Sdk2	A	G	11: 113,856,755	L643P	probably damaging	Het
Sec24d	C	A	3: 123,350,876		probably benign	Het
Sh2d3c	C	G	2: 32,753,021	H587D	probably damaging	Het
Slc1a1	G	A	19: 28,901,484	G208S	probably benign	Het
Slc35b4	A	T	6: 34,158,517	Y287N	probably damaging	Het
Slc46a2	T	A	4: 59,914,544	L126F	probably damaging	Het
Slc4a8	T	C	15: 100,800,493	M621T	possibly damaging	Het
Slc9b2	T	A	3: 135,336,508	V516D	possibly damaging	Het
Slco1a6	T	A	6: 142,157,222		probably benign	Het
Sncg	C	T	14: 34,374,538	V15I	probably benign	Het
Srgap2	T	C	1: 131,355,564	T260A	probably damaging	Het
Stk10	T	A	11: 32,587,305		probably benign	Het
Taf5	A	G	19: 47,075,862	S415G	possibly damaging	Het
Tdp1	C	T	12: 99,954,958		probably benign	Het
Tdp2	T	G	13: 24,841,350		probably null	Het
Tgfbi	T	A	13: 56,629,774	I357N	probably benign	Het
Tmem116	A	G	5: 121,495,096	T178A	probably damaging	Het
Tnrc6a	G	A	7: 123,170,394	R469H	probably benign	Het
Top2a	A	T	11: 99,002,903	L1055*	probably null	Het
Tox	T	A	4: 6,842,411	M40L	probably benign	Het
Trib2	A	T	12: 15,809,929	H110Q	probably benign	Het
Trpa1	A	G	1: 14,903,215	I293T	possibly damaging	Het
Trpv2	A	G	11: 62,590,260	Y395C	probably damaging	Het
Ubn2	T	A	6: 38,434,600		probably null	Het
Ubr4	C	T	4: 139,430,176	T2348M	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Vmn1r33	C	A	6: 66,612,526	G15*	probably null	Het
Vmn1r37	T	A	6: 66,731,785	S95T	probably benign	Het
Vmn2r57	A	G	7: 41,400,652	C558R	probably damaging	Het
Vnn1	T	C	10: 23,898,602		probably null	Het
Vps13c	T	C	9: 67,919,262	V1395A	probably benign	Het
Vwa7	A	G	17: 35,019,805	I290V	probably benign	Het
Wdr93	A	G	7: 79,758,473	E234G	probably damaging	Het
Zfp385b	A	T	2: 77,415,947	S245R	probably benign	Het
Zfp942	A	T	17: 21,928,338	C437S	probably damaging	Het
Zfyve9	T	A	4: 108,718,705	E393V	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGCACCTGTATTTAGCGGCCTG -3'
(R):5'- AGGCTCTGCTCTGATCTTAGTCCTG -3'

Sequencing Primer
(F):5'- CTGGGTAAACAATGGTACACAGC -3'
(R):5'- AGTCCTGAGATATGTAAGGCTCC -3'

Posted On

2013-07-11