Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Clcn2'

672029

Institutional Source

Beutler Lab

Gene Symbol

Clcn2

Ensembl Gene

ENSMUSG00000022843

Gene Name

chloride channel, voltage-sensitive 2

Synonyms

ClC-2, nmf240, Clc2

MMRRC Submission

068642-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.483) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20702964-20717746 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20713418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 96 (G96C)

Ref Sequence

ENSEMBL: ENSMUSP00000007207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000021405] [ENSMUST00000120099] [ENSMUST00000131522] [ENSMUST00000161038] [ENSMUST00000231392] [ENSMUST00000231656] [ENSMUST00000232309]

AlphaFold

Q9R0A1

Predicted Effect

probably damaging
Transcript: ENSMUST00000007207
AA Change: G96C

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

SMART Domains

Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: G96C

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: ENSMUST00000021405

SMART Domains

Protein: ENSMUSP00000021405
Gene: ENSMUSG00000021018

Domain	Start	End	E-Value	Type
RPOL8c	2	147	5.28e-93	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120099
AA Change: G96C

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

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: G96C

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: G96C

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

SMART Domains

Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843
AA Change: G96C

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 benign
Transcript: ENSMUST00000161038

Predicted Effect

probably benign
Transcript: ENSMUST00000231381

Predicted Effect

probably benign
Transcript: ENSMUST00000231392

Predicted Effect

probably benign
Transcript: ENSMUST00000231656

Predicted Effect

probably benign
Transcript: ENSMUST00000232309

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (70/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,007,905 (GRCm38)	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,471,365 (GRCm38)		probably benign	Het
Actl6b	G	A	5: 137,554,656 (GRCm38)	M82I	probably benign	Het
Bmp2	T	A	2: 133,561,334 (GRCm38)	D268E	probably damaging	Het
Cacng7	T	A	7: 3,366,782 (GRCm38)	L221H	probably damaging	Het
Ccser2	A	G	14: 36,879,755 (GRCm38)	V224A	probably damaging	Het
Cdc40	A	G	10: 40,857,580 (GRCm38)	F125L	probably damaging	Het
Cfap46	C	T	7: 139,632,063 (GRCm38)	A1669T	unknown	Het
Cfap58	A	T	19: 47,953,096 (GRCm38)	E301V	probably damaging	Het
Cotl1	T	A	8: 119,810,205 (GRCm38)		probably benign	Het
Cps1	G	A	1: 67,176,951 (GRCm38)	A812T	probably damaging	Het
Cracd	T	C	5: 76,858,642 (GRCm38)	V950A	unknown	Het
Crnkl1	T	C	2: 145,931,430 (GRCm38)		probably null	Het
Cry1	A	G	10: 85,157,105 (GRCm38)	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,841,105 (GRCm38)	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,361,203 (GRCm38)	F425L	probably damaging	Het
Dek	A	T	13: 47,099,454 (GRCm38)	N158K	unknown	Het
Dgcr8	T	A	16: 18,258,297 (GRCm38)	Q674L	probably damaging	Het
Dlec1	C	A	9: 119,112,582 (GRCm38)	S345R	probably benign	Het
Dnah7b	T	A	1: 46,234,145 (GRCm38)	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,434,225 (GRCm38)	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,954,920 (GRCm38)	L186M		Het
Fn1	T	C	1: 71,605,080 (GRCm38)	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,983,109 (GRCm38)	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,773,735 (GRCm38)	V238A	probably damaging	Het
Gm9611	T	C	14: 42,294,700 (GRCm38)	D131G		Het
Gpatch8	T	C	11: 102,480,192 (GRCm38)	E840G	unknown	Het
Grm5	G	A	7: 87,803,968 (GRCm38)	R271Q	probably damaging	Het
Has3	A	T	8: 106,874,503 (GRCm38)	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,425,381 (GRCm38)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,165,188 (GRCm38)		probably null	Het
Il2	T	A	3: 37,123,133 (GRCm38)	T85S	possibly damaging	Het
Kank4	T	C	4: 98,780,036 (GRCm38)	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,928,011 (GRCm38)	I154F	probably damaging	Het
Krt2	T	C	15: 101,815,944 (GRCm38)	K295R	possibly damaging	Het
Lipm	A	T	19: 34,112,908 (GRCm38)	D163V	probably damaging	Het
Lpl	A	G	8: 68,887,563 (GRCm38)	N70S	probably damaging	Het
Mgme1	A	G	2: 144,272,531 (GRCm38)		probably benign	Het
Mnd1	T	A	3: 84,088,125 (GRCm38)	E187D	probably benign	Het
Morn5	A	G	2: 36,079,521 (GRCm38)	D149G	probably benign	Het
Mrrf	G	A	2: 36,147,953 (GRCm38)	V79I	probably damaging	Het
Msh4	T	A	3: 153,857,633 (GRCm38)	Q896L	probably benign	Het
Mtus2	A	C	5: 148,078,493 (GRCm38)	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,910,087 (GRCm38)	C130S	unknown	Het
Ntn5	A	T	7: 45,684,475 (GRCm38)	Y4F	probably benign	Het
Or7e174	T	C	9: 20,101,284 (GRCm38)	V175A	probably benign	Het
Osm	A	G	11: 4,239,839 (GRCm38)	S208G	probably benign	Het
Pcsk6	T	A	7: 65,929,143 (GRCm38)	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,257,033 (GRCm38)	E486G	probably benign	Het
Pdzk1	T	A	3: 96,851,594 (GRCm38)	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,388,372 (GRCm38)	S524T	probably benign	Het
Prkd1	T	A	12: 50,388,373 (GRCm38)	S524C	probably damaging	Het
Rab4b	T	C	7: 27,174,723 (GRCm38)	I90V		Het
Rc3h1	T	C	1: 160,967,652 (GRCm38)	V1083A	probably benign	Het
Rfx7	C	T	9: 72,617,034 (GRCm38)	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,872,214 (GRCm38)	Y332C	probably damaging	Het
Senp2	A	G	16: 22,028,039 (GRCm38)	T265A	probably benign	Het
Slc38a3	T	C	9: 107,655,146 (GRCm38)	M396V	probably benign	Het
Sord	G	A	2: 122,264,126 (GRCm38)	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,437,346 (GRCm38)		probably benign	Het
Star	G	A	8: 25,809,549 (GRCm38)	R53H	probably benign	Het
Stard4	T	G	18: 33,203,696 (GRCm38)	I189L	possibly damaging	Het
Stk38	G	T	17: 29,000,120 (GRCm38)	T7K	probably benign	Het
Stxbp5	T	A	10: 9,838,115 (GRCm38)	K227*	probably null	Het
Taf4b	C	T	18: 14,813,428 (GRCm38)	P436L	possibly damaging	Het
Tgm3	T	A	2: 130,047,782 (GRCm38)	V632E	probably damaging	Het
Tmem158	A	G	9: 123,260,244 (GRCm38)	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281 (GRCm38)	S77P	probably benign	Het
Ttn	A	T	2: 76,889,963 (GRCm38)	L6973*	probably null	Het
Tubal3	T	C	13: 3,933,293 (GRCm38)	F358L	probably damaging	Het
Tut4	T	C	4: 108,549,378 (GRCm38)	V1381A	possibly damaging	Het
Vmn1r214	C	T	13: 23,035,103 (GRCm38)	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,446,527 (GRCm38)	V740A	probably benign	Het
Yipf1	A	T	4: 107,336,158 (GRCm38)	E80D	probably benign	Het
Zdhhc2	G	T	8: 40,445,805 (GRCm38)		probably null	Het
Zfp655	C	T	5: 145,244,480 (GRCm38)	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,537,953 (GRCm38)	T445I	possibly damaging	Het

Other mutations in Clcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Clcn2	APN	16	20,703,641 (GRCm38)	missense	probably benign	0.08
IGL01657:Clcn2	APN	16	20,713,619 (GRCm38)	missense	probably damaging	1.00
IGL01797:Clcn2	APN	16	20,712,761 (GRCm38)	missense	probably damaging	1.00
IGL02557:Clcn2	APN	16	20,708,464 (GRCm38)	missense	probably damaging	1.00
IGL02624:Clcn2	APN	16	20,703,348 (GRCm38)	missense	probably damaging	0.98
IGL02819:Clcn2	APN	16	20,709,256 (GRCm38)	nonsense	probably null
IGL03329:Clcn2	APN	16	20,712,152 (GRCm38)	missense	probably damaging	1.00
Bemr14	UTSW	16	0 ()	unclassified
R0008:Clcn2	UTSW	16	20,710,390 (GRCm38)	missense	probably null	1.00
R0454:Clcn2	UTSW	16	20,710,428 (GRCm38)	critical splice acceptor site	probably null
R1101:Clcn2	UTSW	16	20,703,595 (GRCm38)	missense	probably damaging	1.00
R1466:Clcn2	UTSW	16	20,712,552 (GRCm38)	splice site	probably benign
R1824:Clcn2	UTSW	16	20,715,962 (GRCm38)	missense	probably benign	0.04
R4592:Clcn2	UTSW	16	20,709,142 (GRCm38)	missense	probably damaging	0.99
R5011:Clcn2	UTSW	16	20,707,215 (GRCm38)	missense	probably damaging	1.00
R5013:Clcn2	UTSW	16	20,707,215 (GRCm38)	missense	probably damaging	1.00
R5154:Clcn2	UTSW	16	20,703,303 (GRCm38)	missense	probably benign	0.01
R5374:Clcn2	UTSW	16	20,709,669 (GRCm38)	missense	possibly damaging	0.78
R5726:Clcn2	UTSW	16	20,710,535 (GRCm38)	intron	probably benign
R5787:Clcn2	UTSW	16	20,703,433 (GRCm38)	missense	probably damaging	1.00
R5992:Clcn2	UTSW	16	20,713,654 (GRCm38)	missense	possibly damaging	0.68
R6045:Clcn2	UTSW	16	20,711,688 (GRCm38)	critical splice donor site	probably null
R6663:Clcn2	UTSW	16	20,703,245 (GRCm38)	makesense	probably null
R6765:Clcn2	UTSW	16	20,707,668 (GRCm38)	splice site	probably null
R6825:Clcn2	UTSW	16	20,709,658 (GRCm38)	utr 3 prime	probably benign
R7872:Clcn2	UTSW	16	20,708,460 (GRCm38)	missense	probably damaging	0.99
R8028:Clcn2	UTSW	16	20,708,762 (GRCm38)	missense	possibly damaging	0.66
R8198:Clcn2	UTSW	16	20,707,196 (GRCm38)	missense	probably damaging	0.99
R8924:Clcn2	UTSW	16	20,712,180 (GRCm38)	missense	probably damaging	1.00
R8992:Clcn2	UTSW	16	20,712,330 (GRCm38)	missense	probably damaging	1.00
R9074:Clcn2	UTSW	16	20,712,664 (GRCm38)	missense	possibly damaging	0.78
R9101:Clcn2	UTSW	16	20,707,229 (GRCm38)	missense	probably benign	0.00
R9456:Clcn2	UTSW	16	20,715,952 (GRCm38)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTATTGCCTGGAGATGGACAGTC -3'
(R):5'- CAGTAAGATCCAGATTGGGGC -3'

Sequencing Primer
(F):5'- CAGTCAGACTGGCCAGAGG -3'
(R):5'- TCCAGATTGGGGCAGGGAC -3'

Posted On

2021-04-30