Mutagenetix > Incidental Mutation

Incidental Mutation 'R5154:Clcn2'

396610

Institutional Source

Beutler Lab

Gene Symbol

Clcn2

Ensembl Gene

ENSMUSG00000022843

Gene Name

chloride channel, voltage-sensitive 2

Synonyms

nmf240, Clc2, ClC-2

MMRRC Submission

042736-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R5154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20521714-20536496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20522053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 845 (R845S)

Ref Sequence

ENSEMBL: ENSMUSP00000155857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000056518] [ENSMUST00000118919] [ENSMUST00000120099] [ENSMUST00000128273] [ENSMUST00000131522] [ENSMUST00000232309] [ENSMUST00000149543] [ENSMUST00000232207]

AlphaFold

Q9R0A1

Predicted Effect

probably benign
Transcript: ENSMUST00000007207
AA Change: R889S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843
AA Change: R889S

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 benign
Transcript: ENSMUST00000120099
AA Change: R872S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843
AA Change: R872S

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: ENSMUST00000128273

SMART Domains

Protein: ENSMUSP00000120596
Gene: ENSMUSG00000050821

Domain	Start	End	E-Value	Type
Pfam:FAM131	1	202	4e-100	PFAM

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: ENSMUST00000148131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144400

Predicted Effect

probably benign
Transcript: ENSMUST00000232309
AA Change: R845S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000149543

Predicted Effect

probably benign
Transcript: ENSMUST00000232207

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,938 (GRCm39)	H48P	probably damaging	Het
Angptl7	C	T	4: 148,581,882 (GRCm39)	R168H	probably damaging	Het
Ankrd11	A	C	8: 123,619,878 (GRCm39)	F1325V	probably damaging	Het
Ankrd13c	A	G	3: 157,694,297 (GRCm39)	D266G	possibly damaging	Het
Apold1	A	T	6: 134,960,636 (GRCm39)	H30L	possibly damaging	Het
Arel1	A	G	12: 84,978,547 (GRCm39)	F362L	probably benign	Het
Arhgef4	T	A	1: 34,771,455 (GRCm39)	M1254K	probably benign	Het
Arid2	T	A	15: 96,299,866 (GRCm39)	V1793E	probably damaging	Het
Bcl7a	T	C	5: 123,507,422 (GRCm39)	S156P	probably damaging	Het
Cbr3	A	G	16: 93,482,027 (GRCm39)	I128V	probably benign	Het
Cct6b	G	A	11: 82,630,521 (GRCm39)	P299L	probably damaging	Het
Cd180	A	T	13: 102,842,282 (GRCm39)	N443Y	probably damaging	Het
Cd80	A	G	16: 38,294,342 (GRCm39)	K75R	probably benign	Het
Cdk1	A	T	10: 69,176,298 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,983,755 (GRCm39)	F1565I	probably damaging	Het
Chtf18	T	C	17: 25,942,694 (GRCm39)	T412A	probably damaging	Het
Cit	T	C	5: 116,126,464 (GRCm39)	L1590P	probably damaging	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Cnnm2	A	T	19: 46,751,571 (GRCm39)	R454W	probably benign	Het
Cpne8	T	G	15: 90,384,121 (GRCm39)	I480L	probably benign	Het
Cr2	A	G	1: 194,841,754 (GRCm39)	W400R	probably damaging	Het
Cul5	A	G	9: 53,537,167 (GRCm39)	L528P	probably damaging	Het
Dlgap5	C	T	14: 47,651,177 (GRCm39)	V119M	probably damaging	Het
Dnah12	T	C	14: 26,571,320 (GRCm39)	S190P	probably benign	Het
Dnah3	T	A	7: 119,551,642 (GRCm39)	K2881N	probably damaging	Het
Dnmt3a	A	T	12: 3,946,008 (GRCm39)	I288F	probably damaging	Het
Dse	T	A	10: 34,029,657 (GRCm39)	T478S	possibly damaging	Het
Edn1	C	T	13: 42,458,499 (GRCm39)	T104I	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eprs1	A	G	1: 185,145,662 (GRCm39)	H1157R	probably damaging	Het
Fam168b	G	A	1: 34,857,180 (GRCm39)	T179I	possibly damaging	Het
Fzd5	A	G	1: 64,775,131 (GRCm39)	V210A	probably benign	Het
Gm9742	T	C	13: 8,085,081 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Gpr141	C	T	13: 19,936,412 (GRCm39)	R121K	probably benign	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Grk3	A	T	5: 113,089,583 (GRCm39)	I281N	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,371 (GRCm39)	Y289*	probably null	Het
Hsf2	T	G	10: 57,380,808 (GRCm39)	V214G	probably benign	Het
Igf2bp1	G	A	11: 95,854,373 (GRCm39)	Q563*	probably null	Het
Il31ra	T	A	13: 112,660,531 (GRCm39)	D605V	possibly damaging	Het
Insm2	G	A	12: 55,646,982 (GRCm39)	C242Y	probably damaging	Het
Ints3	C	T	3: 90,322,868 (GRCm39)	V121I	probably benign	Het
Kcnt2	A	T	1: 140,278,994 (GRCm39)	L48F	possibly damaging	Het
Kit	G	A	5: 75,801,200 (GRCm39)	V529M	probably damaging	Het
Mark2	G	A	19: 7,260,439 (GRCm39)	P13S	probably damaging	Het
Mthfsd	A	G	8: 121,825,479 (GRCm39)	V364A	probably damaging	Het
Mtmr11	C	G	3: 96,071,636 (GRCm39)	S185R	probably benign	Het
Myot	A	G	18: 44,487,281 (GRCm39)	I373V	probably benign	Het
N4bp3	A	T	11: 51,536,139 (GRCm39)	V231D	probably benign	Het
Or5t17	T	C	2: 86,832,382 (GRCm39)	V23A	probably benign	Het
Or8k39	A	T	2: 86,563,121 (GRCm39)	Y278*	probably null	Het
Pdcd6ip	A	G	9: 113,520,610 (GRCm39)	F125L	probably damaging	Het
Prpf39	A	T	12: 65,095,051 (GRCm39)	Q124L	probably benign	Het
Reln	A	T	5: 22,193,763 (GRCm39)	N1398K	probably damaging	Het
Rhod	A	T	19: 4,482,122 (GRCm39)	D97E	probably damaging	Het
Rxra	T	C	2: 27,647,880 (GRCm39)		probably null	Het
Slc1a3	T	C	15: 8,672,433 (GRCm39)	I349V	probably benign	Het
Slc37a2	A	T	9: 37,142,939 (GRCm39)	*502R	probably null	Het
Slc9b1	T	C	3: 135,078,940 (GRCm39)	I199T	probably damaging	Het
Spart	C	T	3: 55,024,750 (GRCm39)	P115L	probably damaging	Het
Tnpo1	A	T	13: 99,006,813 (GRCm39)	C205S	possibly damaging	Het
Tubb1	T	A	2: 174,298,657 (GRCm39)	I113N	probably benign	Het
Tyrp1	G	A	4: 80,768,954 (GRCm39)	V483I	probably benign	Het
Vwde	T	C	6: 13,215,757 (GRCm39)	S100G	probably benign	Het
Zfhx3	A	T	8: 109,527,207 (GRCm39)	I1035F	probably damaging	Het
Zfp618	G	T	4: 63,051,446 (GRCm39)	K742N	probably damaging	Het
Zfp873	T	C	10: 81,896,025 (GRCm39)	V252A	possibly 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
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'- GTATAAACCCAGTTTAGTTCTGCC -3'
(R):5'- AGTCTGAGGCACACATCTGAC -3'

Sequencing Primer
(F):5'- CCCTTTTCTCAAAGATGGGGCAG -3'
(R):5'- TGAGGCACACATCTGACTCTTAC -3'

Posted On

2016-06-21