Mutagenetix > Incidental Mutation

Incidental Mutation 'R6825:Clcn2'

557056

Institutional Source

Beutler Lab

Gene Symbol

Clcn2

Ensembl Gene

ENSMUSG00000022843

Gene Name

chloride channel, voltage-sensitive 2

Synonyms

nmf240, Clc2, ClC-2

MMRRC Submission

044937-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.584) question?

Stock #

R6825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20521714-20536496 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to A at 20528408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9R0A1

Predicted Effect

silent
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: 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

unknown
Transcript: ENSMUST00000131522
AA Change: W496L

SMART Domains

Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843
AA Change: W496L

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: ENSMUST00000231381

Predicted Effect

silent
Transcript: ENSMUST00000232309

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,954,654 (GRCm39)	S206T	probably benign	Het
Aasdh	A	T	5: 77,036,696 (GRCm39)		probably null	Het
Adam10	G	T	9: 70,668,884 (GRCm39)	C400F	probably damaging	Het
Ankle2	A	T	5: 110,398,635 (GRCm39)	R561S	probably null	Het
Arhgef5	C	T	6: 43,251,895 (GRCm39)	T882I	probably damaging	Het
Arpc1a	A	T	5: 145,032,936 (GRCm39)	K82*	probably null	Het
Card11	C	A	5: 140,863,837 (GRCm39)	R967L	probably benign	Het
Ccdc82	G	T	9: 13,251,601 (GRCm39)		probably benign	Het
Cebpz	T	C	17: 79,227,392 (GRCm39)	D1026G	probably damaging	Het
Cit	A	T	5: 116,119,833 (GRCm39)	Q1321L	probably damaging	Het
Csf3	G	C	11: 98,593,273 (GRCm39)	G130A	probably damaging	Het
Cul2	T	A	18: 3,434,946 (GRCm39)	S737T	probably damaging	Het
Cyp1a2	G	A	9: 57,584,543 (GRCm39)	H504Y	probably benign	Het
Cyp3a44	G	A	5: 145,716,396 (GRCm39)	P398L	probably damaging	Het
Dnah8	T	C	17: 30,960,147 (GRCm39)	I2206T	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Epb41l5	A	T	1: 119,547,931 (GRCm39)	D157E	possibly damaging	Het
Ercc8	T	C	13: 108,295,343 (GRCm39)	S6P	probably damaging	Het
Faxc	T	C	4: 21,931,672 (GRCm39)	S37P	probably benign	Het
Fbxl19	T	A	7: 127,349,187 (GRCm39)	I119K	probably damaging	Het
Frmd4b	A	G	6: 97,302,437 (GRCm39)	V195A	possibly damaging	Het
Fut9	A	T	4: 25,619,925 (GRCm39)	S296R	probably benign	Het
Gas6	T	C	8: 13,533,674 (GRCm39)	N112D	probably benign	Het
H2-Q1	T	C	17: 35,540,028 (GRCm39)	L99P	probably damaging	Het
Helq	A	T	5: 100,940,561 (GRCm39)	I346N	probably damaging	Het
Hepacam	A	G	9: 37,278,976 (GRCm39)	K2E	possibly damaging	Het
Itgae	T	C	11: 73,009,322 (GRCm39)	M502T	possibly damaging	Het
Kmt2a	G	A	9: 44,729,704 (GRCm39)		probably benign	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,277,015 (GRCm39)		probably null	Het
Mgat4a	T	A	1: 37,503,515 (GRCm39)	K220*	probably null	Het
Or2t43	T	C	11: 58,457,476 (GRCm39)	R232G	possibly damaging	Het
Or4c104	T	C	2: 88,586,255 (GRCm39)	I255V	possibly damaging	Het
Or5b3	G	A	19: 13,388,514 (GRCm39)	V194I	probably benign	Het
Pex5	A	T	6: 124,391,340 (GRCm39)	M18K	probably damaging	Het
Phlda3	T	C	1: 135,694,562 (GRCm39)	*126Q	probably null	Het
Plxna1	G	T	6: 89,297,597 (GRCm39)	D1862E	probably benign	Het
Pold4	A	T	19: 4,282,164 (GRCm39)	I7F	possibly damaging	Het
Prkaa1	A	T	15: 5,173,432 (GRCm39)	I19F	possibly damaging	Het
Prl7d1	T	G	13: 27,894,125 (GRCm39)	E148A	probably benign	Het
Prr14l	A	T	5: 32,985,892 (GRCm39)	V1201E	possibly damaging	Het
Rab3gap1	T	C	1: 127,858,158 (GRCm39)	C510R	probably damaging	Het
Rhbdf1	C	T	11: 32,159,970 (GRCm39)	R802H	probably damaging	Het
Rpl18a	A	C	8: 71,348,836 (GRCm39)	F47V	probably damaging	Het
Sema5b	C	A	16: 35,448,377 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,442,459 (GRCm39)	G1985R	probably benign	Het
Tcaf2	C	T	6: 42,606,452 (GRCm39)	A501T	probably benign	Het
Tcerg1	A	G	18: 42,681,542 (GRCm39)	D563G	probably damaging	Het
Tdh	G	A	14: 63,733,281 (GRCm39)	T155M	probably damaging	Het
Tenm2	T	C	11: 35,937,711 (GRCm39)	N1654S	probably benign	Het
Tlr5	A	T	1: 182,800,609 (GRCm39)		probably benign	Het
Tns1	G	T	1: 74,041,482 (GRCm39)	C136*	probably null	Het
Tomm5	A	T	4: 45,106,443 (GRCm39)		probably null	Het
Trio	A	T	15: 27,889,394 (GRCm39)	F512I	probably damaging	Het
Ttll5	A	T	12: 85,930,102 (GRCm39)		probably null	Het
Upp1	T	A	11: 9,081,707 (GRCm39)	H81Q	probably benign	Het
Usp42	A	G	5: 143,713,562 (GRCm39)	S71P	probably damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Zap70	A	G	1: 36,817,471 (GRCm39)	Y238C	probably damaging	Het
Zfp398	A	G	6: 47,843,265 (GRCm39)	D307G	probably damaging	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
R6765:Clcn2	UTSW	16	20,526,418 (GRCm39)	splice site	probably null
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'- GTCCCAAAGAGTAATCGGGC -3'
(R):5'- GCTATGGCTTGTAGAGTTCAAC -3'

Sequencing Primer
(F):5'- GTCTCCAAATGCAGCTATGGACTG -3'
(R):5'- GAGTTCAACTCTAGCCCAAACC -3'

Posted On

2019-06-07