Mutagenetix > Incidental Mutation

Incidental Mutation 'R5011:Clcn2'

390543

Institutional Source

Beutler Lab

Gene Symbol

Clcn2

Ensembl Gene

ENSMUSG00000022843

Gene Name

chloride channel, voltage-sensitive 2

Synonyms

nmf240, Clc2, ClC-2

MMRRC Submission

042602-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R5011 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

20521714-20536496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20525965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 785 (P785S)

Ref Sequence

ENSEMBL: ENSMUSP00000112759 (fasta)

Gene Model

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

AlphaFold

Q9R0A1

Predicted Effect

probably damaging
Transcript: ENSMUST00000007207
AA Change: P802S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: P802S

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 damaging
Transcript: ENSMUST00000120099
AA Change: P785S

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

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: P785S

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: ENSMUST00000144400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153075

Predicted Effect

probably damaging
Transcript: ENSMUST00000232309
AA Change: P758S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000231381

Meta Mutation Damage Score

0.3258

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (104/104)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	C	11: 106,919,324 (GRCm39)	V223A	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Atg16l1	C	A	1: 87,701,902 (GRCm39)	S248*	probably null	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Atxn1	T	C	13: 45,710,545 (GRCm39)	N796D	probably damaging	Het
C3	T	A	17: 57,530,236 (GRCm39)	Y455F	probably benign	Het
Card11	A	T	5: 140,862,275 (GRCm39)	D1007E	possibly damaging	Het
Cbr2	T	C	11: 120,621,697 (GRCm39)	D60G	possibly damaging	Het
Cgn	T	A	3: 94,683,455 (GRCm39)	E400V	probably null	Het
Chil3	T	A	3: 106,057,477 (GRCm39)	Y229F	possibly damaging	Het
Clk1	T	C	1: 58,453,642 (GRCm39)	I315V	probably benign	Het
Cops6	A	G	5: 138,160,459 (GRCm39)	D102G	probably benign	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnaaf5	T	A	5: 139,149,012 (GRCm39)	L437Q	probably damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Draxin	C	A	4: 148,192,436 (GRCm39)	R292L	probably damaging	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fat1	A	T	8: 45,484,300 (GRCm39)		probably null	Het
Fbxl18	A	G	5: 142,872,435 (GRCm39)	S267P	probably damaging	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Fgd2	T	C	17: 29,593,954 (GRCm39)		probably null	Het
Gm7251	T	A	13: 49,958,656 (GRCm39)		noncoding transcript	Het
Golt1a	T	C	1: 133,248,006 (GRCm39)	V78A	probably damaging	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Gtf2ird2	G	T	5: 134,245,824 (GRCm39)	S694I	possibly damaging	Het
H2-Ob	T	A	17: 34,460,253 (GRCm39)		probably null	Het
Hsp90b1	T	C	10: 86,532,617 (GRCm39)	D353G	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itga7	G	A	10: 128,785,316 (GRCm39)	V836M	possibly damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Ivns1abp	T	A	1: 151,238,953 (GRCm39)	M589K	possibly damaging	Het
Jakmip3	C	T	7: 138,621,951 (GRCm39)	R284W	probably damaging	Het
Kank3	T	C	17: 34,041,044 (GRCm39)	L512P	probably damaging	Het
Kcnn2	T	A	18: 45,818,352 (GRCm39)	I483N	possibly damaging	Het
Klk1b4	A	G	7: 43,860,492 (GRCm39)	N170S	probably benign	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lbr	A	T	1: 181,647,453 (GRCm39)	Y199*	probably null	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Ltbp1	T	A	17: 75,373,152 (GRCm39)	L265H	probably damaging	Het
Maml3	A	T	3: 51,598,196 (GRCm39)	N183K	possibly damaging	Het
Mprip	T	C	11: 59,650,721 (GRCm39)	V1475A	possibly damaging	Het
Myh4	C	A	11: 67,147,189 (GRCm39)	S1611R	probably benign	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nudt12	T	C	17: 59,303,499 (GRCm39)		probably benign	Het
Nup153	T	C	13: 46,840,879 (GRCm39)	T910A	possibly damaging	Het
Or1e31	T	A	11: 73,690,473 (GRCm39)	T37S	possibly damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pbx2	T	A	17: 34,813,673 (GRCm39)	C224*	probably null	Het
Pcdha6	A	G	18: 37,100,960 (GRCm39)	D51G	probably damaging	Het
Pnpla1	C	T	17: 29,104,558 (GRCm39)	T538I	possibly damaging	Het
Pnpla2	T	C	7: 141,039,204 (GRCm39)		probably null	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ranbp2	T	A	10: 58,297,717 (GRCm39)	S375T	probably benign	Het
Rimbp2	T	C	5: 128,880,985 (GRCm39)	Y134C	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Sh3tc1	G	T	5: 35,857,633 (GRCm39)	A1185D	probably damaging	Het
Sin3b	G	A	8: 73,471,184 (GRCm39)	S377N	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spink5	A	T	18: 44,139,479 (GRCm39)	N614I	probably damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Thap4	T	C	1: 93,677,598 (GRCm39)	Y396C	probably damaging	Het
Tle2	T	C	10: 81,420,531 (GRCm39)	L348P	probably damaging	Het
Tmem104	T	C	11: 115,134,312 (GRCm39)	S283P	probably damaging	Het
Tnn	T	C	1: 159,953,949 (GRCm39)	E602G	possibly damaging	Het
Tpm4	A	G	8: 72,900,938 (GRCm39)	K190R	probably benign	Het
Ttf2	T	C	3: 100,870,485 (GRCm39)	E196G	probably benign	Het
Ugt3a1	T	C	15: 9,365,373 (GRCm39)	W329R	probably damaging	Het
Unc13a	G	A	8: 72,094,121 (GRCm39)	Q1327*	probably null	Het
Vmn1r194	C	T	13: 22,429,058 (GRCm39)	T225I	probably benign	Het
Vmn1r215	T	C	13: 23,260,721 (GRCm39)	S254P	probably damaging	Het
Vmn2r109	T	C	17: 20,775,451 (GRCm39)	E92G	probably damaging	Het
Ythdc2	A	G	18: 44,987,809 (GRCm39)	M625V	probably benign	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zfp768	T	C	7: 126,942,875 (GRCm39)	R418G	probably damaging	Het
Zmynd11	C	T	13: 9,739,479 (GRCm39)		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
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
R6765:Clcn2	UTSW	16	20,526,418 (GRCm39)	splice site	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'- GGCTTACAGACTTACATGGCTG -3'
(R):5'- TAGAGTGACTCAGACCCGGAAG -3'

Sequencing Primer
(F):5'- GCTTACAGACTTACATGGCTGAAAGC -3'
(R):5'- ATGCCATTAGACTCTAGAGGGTTTC -3'

Posted On

2016-06-06