Mutagenetix > Incidental Mutation

Incidental Mutation 'R8924:Clcn2'

679503

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

Essential gene?

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

Stock #

R8924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20702964-20717746 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20712180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 267 (V267I)

Ref Sequence

ENSEMBL: ENSMUSP00000007207 (fasta)

Gene Model

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

AlphaFold

Q9R0A1

Predicted Effect

probably damaging
Transcript: ENSMUST00000007207
AA Change: V267I

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

SMART Domains

Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: V267I

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 damaging
Transcript: ENSMUST00000120099
AA Change: V267I

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

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: V267I

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 damaging
Transcript: ENSMUST00000131522
AA Change: V267I

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

SMART Domains

Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843
AA Change: V267I

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

probably damaging
Transcript: ENSMUST00000232309
AA Change: V223I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (88/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,295,461	N572D	probably benign	Het
Abca8b	A	G	11: 109,947,177	V1145A	probably benign	Het
Ank1	T	C	8: 23,098,995	M562T	probably benign	Het
Atn1	A	T	6: 124,745,248	S881T	probably benign	Het
B3galt1	C	T	2: 68,118,715	T258I	probably benign	Het
Bahcc1	C	T	11: 120,276,765	L1331F	probably benign	Het
Capn12	G	A	7: 28,883,203	V168M	probably damaging	Het
Card14	T	C	11: 119,326,104	V338A	possibly damaging	Het
Cd27	T	C	6: 125,236,469		probably benign	Het
Cd37	A	G	7: 45,238,685	L37P	probably damaging	Het
Cd96	A	G	16: 46,099,022	L212P	probably damaging	Het
Celsr1	T	C	15: 86,032,470	E434G	possibly damaging	Het
Cep152	A	G	2: 125,602,858	M456T	possibly damaging	Het
Ces3b	G	A	8: 105,084,987	R45H	probably benign	Het
Cfap54	T	G	10: 93,001,823	T1072P	probably damaging	Het
Chodl	A	T	16: 78,941,771	M172L	possibly damaging	Het
Cilp2	A	G	8: 69,886,458	S47P	probably damaging	Het
Clasrp	T	C	7: 19,584,307	I596V	unknown	Het
Cntln	T	A	4: 84,888,699	D139E	probably damaging	Het
Cyp2j12	A	C	4: 96,106,448	N379K	probably damaging	Het
Defb21	T	C	2: 152,574,784	V60A	possibly damaging	Het
Dnajc16	G	T	4: 141,766,707	S543*	probably null	Het
Efcab12	G	T	6: 115,823,703	H120N	probably benign	Het
Efl1	G	A	7: 82,762,953	G850D	probably benign	Het
Efna1	T	C	3: 89,276,328	M64V	probably benign	Het
Eif2ak3	T	C	6: 70,893,019	W897R	probably damaging	Het
Eif2ak4	T	A	2: 118,428,032	F621Y	probably damaging	Het
Erbin	C	A	13: 103,839,458	E643*	probably null	Het
Esr1	G	A	10: 4,857,176	W364*	probably null	Het
Fam171a2	T	C	11: 102,440,035	E206G	possibly damaging	Het
Fam90a1a	T	C	8: 21,961,413	F97L	probably benign	Het
Fap	A	T	2: 62,547,821	F181I	probably benign	Het
Fem1b	T	C	9: 62,797,634	N115D	probably damaging	Het
Gal3st2b	G	T	1: 93,940,931	A295S	probably benign	Het
Galnt10	G	A	11: 57,783,855		probably benign	Het
Gcfc2	T	C	6: 81,932,898	V224A	probably damaging	Het
Gh	T	C	11: 106,300,808	E136G	probably damaging	Het
Gjd3	C	T	11: 98,982,499	C173Y	probably damaging	Het
Gm11639	AACTCTA	AA	11: 104,915,427		probably null	Het
Gm12695	T	A	4: 96,762,809	M136L	probably benign	Het
Gm156	G	T	6: 129,768,121	H171N	probably benign	Het
Gnas	A	G	2: 174,299,484	E482G	unknown	Het
Gpa33	T	C	1: 166,152,782	L138P	probably damaging	Het
Hlf	T	C	11: 90,345,888	D181G	probably damaging	Het
Irgm1	A	G	11: 48,865,871	L387S	probably benign	Het
Kctd1	T	C	18: 14,969,688	E812G	possibly damaging	Het
Klra2	T	C	6: 131,228,251	E209G	probably benign	Het
Klra3	C	T	6: 130,335,769	V11M	probably benign	Het
Kmt2c	T	C	5: 25,298,887	S3808G	probably benign	Het
Krtap24-1	A	C	16: 88,612,000	S79R	probably benign	Het
Limch1	T	A	5: 67,033,132	H759Q	probably benign	Het
Map3k4	A	G	17: 12,271,546	Y333H	probably benign	Het
Mmel1	A	G	4: 154,889,634	Y377C	probably damaging	Het
Ms4a14	A	T	19: 11,303,749	Y482N	possibly damaging	Het
Myo9b	A	G	8: 71,349,031	S1277G	probably benign	Het
Nab1	T	C	1: 52,490,508	T77A	possibly damaging	Het
Obsl1	T	C	1: 75,506,197	S10G	probably benign	Het
Odc1	A	G	12: 17,548,328	T157A	possibly damaging	Het
Olfr448	T	G	6: 42,897,030	L193R	probably damaging	Het
Olfr917	T	C	9: 38,665,484	D120G	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Plpp1	T	A	13: 112,806,523		probably benign	Het
Prdm13	G	A	4: 21,679,125	A455V	possibly damaging	Het
Ptpn13	A	T	5: 103,591,235	Y2289F	probably damaging	Het
Ptpn18	G	T	1: 34,459,885	R21L	probably benign	Het
Ptprd	A	G	4: 75,998,499		probably null	Het
Rcn3	G	T	7: 45,083,671	D258E	probably damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,579,907		probably benign	Het
Sacs	T	A	14: 61,192,446	H651Q	probably benign	Het
Sacs	T	C	14: 61,211,253	S3583P	probably damaging	Het
Scel	A	G	14: 103,592,371	N463S	possibly damaging	Het
Serpinb2	A	T	1: 107,515,554	I28F	possibly damaging	Het
Sin3b	A	G	8: 72,746,503	K484E	probably benign	Het
Snrnp48	T	A	13: 38,216,421	V168D	probably damaging	Het
Snx18	T	G	13: 113,618,395	M1L	probably benign	Het
Srcap	T	A	7: 127,559,032	N2693K	unknown	Het
Stim1	A	G	7: 102,428,807	D172G		Het
Stip1	A	T	19: 7,025,319	L414H	probably damaging	Het
Sun1	A	G	5: 139,223,635	H40R	probably damaging	Het
Sva	T	A	6: 42,042,248	D117E	possibly damaging	Het
Syne2	A	G	12: 75,896,670	D321G	probably damaging	Het
Trim45	A	G	3: 100,928,078	D459G	probably damaging	Het
Trove2	C	T	1: 143,765,432		probably null	Het
Ttc6	G	A	12: 57,651,004	W43*	probably null	Het
Ugt2b35	A	G	5: 87,004,921	T317A	possibly damaging	Het
Usp32	C	T	11: 85,025,544	R858Q	probably damaging	Het
Vmn2r53	G	T	7: 12,600,825	Q303K	probably benign	Het
Yeats2	T	C	16: 20,150,562		probably null	Het
Zfp804a	A	G	2: 82,258,403	N859D	probably benign	Het
Zscan10	A	T	17: 23,605,606	Q12L	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
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	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
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'- AGAGCTGTGATGGTTTCTAACG -3'
(R):5'- AGATGCTAGCTGCTGCATGC -3'

Sequencing Primer
(F):5'- GCAGGTCTAACTGTGTCCC -3'
(R):5'- TGCATGCGCAGTAGGAGTG -3'

Posted On

2021-08-02