Mutagenetix > Incidental Mutations

Incidental Mutation 'R0023:Clcn3'

18700

Institutional Source

Beutler Lab

Gene Symbol

Clcn3

Ensembl Gene

ENSMUSG00000004319

Gene Name

chloride channel, voltage-sensitive 3

Synonyms

Clc3

MMRRC Submission

038318-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

60910389-60983300 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 60933070 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004430] [ENSMUST00000056508] [ENSMUST00000093490] [ENSMUST00000110301] [ENSMUST00000110302]

Predicted Effect

probably benign
Transcript: ENSMUST00000004430

SMART Domains

Protein: ENSMUSP00000004430
Gene: ENSMUSG00000004319

Domain	Start	End	E-Value	Type
transmembrane domain	128	150	N/A	INTRINSIC
Pfam:Voltage_CLC	220	623	1.4e-111	PFAM
CBS	667	717	2.46e-1	SMART
CBS	758	805	2.08e-8	SMART
low complexity region	847	861	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000056508

SMART Domains

Protein: ENSMUSP00000058648
Gene: ENSMUSG00000004319

Domain	Start	End	E-Value	Type
transmembrane domain	101	123	N/A	INTRINSIC
Pfam:Voltage_CLC	193	596	1.4e-103	PFAM
CBS	640	690	2.46e-1	SMART
CBS	731	778	6.59e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093490

SMART Domains

Protein: ENSMUSP00000091202
Gene: ENSMUSG00000004319

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
Pfam:Voltage_CLC	162	565	1.2e-103	PFAM
CBS	609	659	2.46e-1	SMART
CBS	700	747	6.59e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110301

SMART Domains

Protein: ENSMUSP00000105930
Gene: ENSMUSG00000004319

Domain	Start	End	E-Value	Type
transmembrane domain	128	150	N/A	INTRINSIC
Pfam:Voltage_CLC	220	623	2.7e-103	PFAM
CBS	667	717	2.46e-1	SMART
CBS	758	805	6.59e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110302

SMART Domains

Protein: ENSMUSP00000105931
Gene: ENSMUSG00000004319

Domain	Start	End	E-Value	Type
transmembrane domain	101	123	N/A	INTRINSIC
Pfam:Voltage_CLC	193	596	1.3e-103	PFAM
CBS	640	690	2.46e-1	SMART
CBS	731	778	2.08e-8	SMART
low complexity region	820	834	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147824

Coding Region Coverage

1x: 78.2%
3x: 67.5%
10x: 40.9%
20x: 21.9%

Validation Efficiency

89% (77/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Nullizygous mutations cause degeneration of hippocampal neurons and retinal photoreceptors, reduced body weight, behavioral deficits, gliosis, kyphosis and premature death, and may alter male fertility, ileum morphology, liver physiology, seizure susceptibility, and behavioral response to drugs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	C	4: 144,528,997	D329A	probably damaging	Het
9530053A07Rik	A	G	7: 28,153,412	K1375E	probably benign	Het
Abcc12	T	A	8: 86,538,333	H661L	probably damaging	Het
Acsbg2	C	G	17: 56,847,710	A481P	probably damaging	Het
Aknad1	T	A	3: 108,781,185	C610S	probably benign	Het
Anapc1	T	A	2: 128,678,218	K226N	probably damaging	Het
Aqp11	A	T	7: 97,726,689	I251N	possibly damaging	Het
Arid1a	G	T	4: 133,691,176	T1032K	unknown	Het
Atg16l1	T	C	1: 87,789,465	V538A	probably benign	Het
Atp7b	A	T	8: 22,011,073	L938Q	probably damaging	Het
Bbs1	C	T	19: 4,906,014	A44T	probably damaging	Het
Btbd9	A	T	17: 30,530,214	V42E	probably damaging	Het
Carmil3	C	G	14: 55,492,876	S15R	probably damaging	Het
Cfap44	T	A	16: 44,421,220	F651L	probably benign	Het
Copb1	A	T	7: 114,250,094	D91E	probably benign	Het
Ctr9	G	A	7: 111,043,947	A509T	possibly damaging	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Emc1	A	G	4: 139,371,009	D767G	probably damaging	Het
Fads1	G	A	19: 10,186,897		probably benign	Het
Frrs1	T	C	3: 116,896,788	F27L	probably damaging	Het
Itga2	G	A	13: 114,870,496	S432L	possibly damaging	Het
Lrig3	A	C	10: 126,010,219	D839A	probably damaging	Het
Macf1	A	T	4: 123,488,314		probably benign	Het
Myo6	T	C	9: 80,283,534	V789A	possibly damaging	Het
Nasp	A	G	4: 116,605,771		probably benign	Het
Nsmaf	A	G	4: 6,408,680	Y700H	probably damaging	Het
Plekhs1	T	G	19: 56,478,516	S260A	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
R3hdm1	T	C	1: 128,211,192		probably benign	Het
Rtcb	A	T	10: 85,949,451		probably benign	Het
Suco	A	T	1: 161,845,585		probably null	Het
Synrg	G	T	11: 84,008,653	D562Y	probably damaging	Het
Tfip11	T	C	5: 112,332,009	S265P	possibly damaging	Het
Ucp3	G	T	7: 100,485,043	V288L	probably benign	Het
Xylt1	G	T	7: 117,634,701	G485V	probably damaging	Het
Yars	A	G	4: 129,197,188	T130A	probably benign	Het
Zfp652	A	T	11: 95,753,469	R205*	probably null	Het

Other mutations in Clcn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Clcn3	APN	8	60922792	missense	probably damaging	0.99
IGL01088:Clcn3	APN	8	60937347	missense	probably damaging	1.00
IGL01449:Clcn3	APN	8	60934598	missense	probably damaging	0.97
IGL01792:Clcn3	APN	8	60929322	missense	probably damaging	1.00
IGL01845:Clcn3	APN	8	60913095	missense	probably benign	0.08
IGL01984:Clcn3	APN	8	60929580	missense	probably damaging	1.00
IGL02041:Clcn3	APN	8	60923153	missense	probably damaging	0.99
IGL02199:Clcn3	APN	8	60933092	nonsense	probably null
IGL02199:Clcn3	APN	8	60927274	missense	possibly damaging	0.82
IGL02456:Clcn3	APN	8	60941357	missense	probably damaging	1.00
IGL03353:Clcn3	APN	8	60922988	missense	probably benign	0.37
Precipice	UTSW	8	60941399	missense	probably benign	0.16
R0003:Clcn3	UTSW	8	60927296	nonsense	probably null
R0023:Clcn3	UTSW	8	60933070	splice site	probably benign
R0349:Clcn3	UTSW	8	60941348	missense	possibly damaging	0.91
R0437:Clcn3	UTSW	8	60934537	missense	possibly damaging	0.69
R0784:Clcn3	UTSW	8	60929203	missense	probably benign	0.25
R0840:Clcn3	UTSW	8	60929154	missense	probably benign	0.22
R1167:Clcn3	UTSW	8	60922788	critical splice donor site	probably null
R2035:Clcn3	UTSW	8	60934598	missense	probably damaging	0.97
R2193:Clcn3	UTSW	8	60929187	missense	possibly damaging	0.56
R3697:Clcn3	UTSW	8	60913123	missense	probably benign	0.02
R3736:Clcn3	UTSW	8	60983652	unclassified	probably benign
R4676:Clcn3	UTSW	8	60930651	intron	probably benign
R4807:Clcn3	UTSW	8	60934530	missense	probably damaging	1.00
R5112:Clcn3	UTSW	8	60954552	missense	probably benign	0.07
R5200:Clcn3	UTSW	8	60923005	missense	probably damaging	0.99
R5652:Clcn3	UTSW	8	60919353	missense	possibly damaging	0.81
R5712:Clcn3	UTSW	8	60937298	critical splice donor site	probably null
R5731:Clcn3	UTSW	8	60922889	missense	possibly damaging	0.46
R5814:Clcn3	UTSW	8	60934573	missense	probably damaging	1.00
R6134:Clcn3	UTSW	8	60934573	missense	probably damaging	1.00
R6370:Clcn3	UTSW	8	60923024	missense	probably damaging	1.00
R6371:Clcn3	UTSW	8	60937335	missense	probably benign	0.06
R6394:Clcn3	UTSW	8	60941291	missense	probably damaging	0.99
R6466:Clcn3	UTSW	8	60929561	missense	probably damaging	1.00
R6588:Clcn3	UTSW	8	60914827	missense	probably benign	0.03
R6750:Clcn3	UTSW	8	60914775	missense	possibly damaging	0.93
R7522:Clcn3	UTSW	8	60941412	missense	probably benign
R7556:Clcn3	UTSW	8	60929487	missense	probably damaging	0.99
R7557:Clcn3	UTSW	8	60937368	missense	probably damaging	0.99
R7685:Clcn3	UTSW	8	60933085	missense	possibly damaging	0.54
R7887:Clcn3	UTSW	8	60941399	missense	probably benign	0.16
R8219:Clcn3	UTSW	8	60922966	missense	probably damaging	0.98
R8478:Clcn3	UTSW	8	60919488	missense	probably benign

Posted On

2013-03-25