Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Clcnka'

274587

Institutional Source

Beutler Lab

Gene Symbol

Clcnka

Ensembl Gene

ENSMUSG00000033770

Gene Name

chloride channel, voltage-sensitive Ka

Synonyms

CLC-K1, Clcnk1

MMRRC Submission

040763-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141111922-141126017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141114601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 615 (E615G)

Ref Sequence

ENSEMBL: ENSMUSP00000101416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006380] [ENSMUST00000042617] [ENSMUST00000042617] [ENSMUST00000105790] [ENSMUST00000105790]

AlphaFold

Q9WUB7

Predicted Effect

probably benign
Transcript: ENSMUST00000006380

SMART Domains

Protein: ENSMUSP00000006380
Gene: ENSMUSG00000006218

Domain	Start	End	E-Value	Type
Pfam:FAM131	62	258	1.4e-47	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000042617
AA Change: E615G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770
AA Change: E615G

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	102	514	2.1e-69	PFAM
CBS	554	604	6.54e-6	SMART
Pfam:CBS	623	679	5.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000042617
AA Change: E615G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770
AA Change: E615G

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	102	514	2.1e-69	PFAM
CBS	554	604	6.54e-6	SMART
Pfam:CBS	623	679	5.7e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105790
AA Change: E615G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770
AA Change: E615G

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	101	514	3.1e-75	PFAM
CBS	554	604	6.54e-6	SMART
Blast:CBS	629	678	1e-20	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000105790
AA Change: E615G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770
AA Change: E615G

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
Pfam:Voltage_CLC	101	514	3.1e-75	PFAM
CBS	554	604	6.54e-6	SMART
Blast:CBS	629	678	1e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150334

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the CLC family of voltage-gated chloride channels. The gene is located adjacent to a highly similar chloride channel gene on chromosome 4. This gene is syntenic with human CLCNKB (geneID:1188). Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased urine volume and decreased urine osmolarity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Akap9	A	G	5: 4,004,410 (GRCm39)	N108S	probably benign	Het
Ankmy1	A	G	1: 92,811,480 (GRCm39)	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,798,926 (GRCm39)	D851E	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,227,598 (GRCm39)	T62A	possibly damaging	Het
Cfhr4	T	A	1: 139,680,773 (GRCm39)	K248N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cpxm2	C	T	7: 131,681,820 (GRCm39)	M236I	probably benign	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Fam131a	G	A	16: 20,514,608 (GRCm39)	V70M	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,317,891 (GRCm39)	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,735,183 (GRCm39)	T315A	probably benign	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965 (GRCm39)	Q18*	probably null	Het
Hemk1	T	A	9: 107,214,229 (GRCm39)	I68F	probably damaging	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,822,918 (GRCm39)	A68S	probably benign	Het
Ip6k3	T	C	17: 27,363,974 (GRCm39)	H358R	probably damaging	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Kmt2a	C	T	9: 44,731,653 (GRCm39)		probably benign	Het
Krt16	G	T	11: 100,139,566 (GRCm39)	R51S	unknown	Het
Lamtor1	G	A	7: 101,560,552 (GRCm39)	V156I	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Maco1	C	T	4: 134,557,891 (GRCm39)	M207I	probably benign	Het
Man1c1	A	T	4: 134,430,662 (GRCm39)	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,224,221 (GRCm39)	N145S	probably benign	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Muc5ac	T	C	7: 141,367,471 (GRCm39)	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,289,142 (GRCm39)	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,532,505 (GRCm39)	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,104,271 (GRCm39)	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Or5d18	A	G	2: 87,864,911 (GRCm39)	S191P	possibly damaging	Het
Otof	T	A	5: 30,543,843 (GRCm39)		probably null	Het
Pcdha2	G	A	18: 37,072,582 (GRCm39)	R71H	probably benign	Het
Pcdha2	G	T	18: 37,074,744 (GRCm39)	E792*	probably null	Het
Pcnx1	A	G	12: 81,996,911 (GRCm39)	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,096,640 (GRCm39)	Y122H	probably damaging	Het
Psg16	A	G	7: 16,824,609 (GRCm39)	E131G	probably benign	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Rab6a	A	G	7: 100,257,431 (GRCm39)	M1V	probably null	Het
Ripk3	T	C	14: 56,023,725 (GRCm39)	R29G	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,071,614 (GRCm39)	V423A	possibly damaging	Het
Rxylt1	A	T	10: 121,917,514 (GRCm39)	V333E	possibly damaging	Het
Scgb2b18	T	G	7: 32,872,563 (GRCm39)	M81L	probably benign	Het
Slc24a2	A	T	4: 87,146,021 (GRCm39)	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,248,019 (GRCm39)	E325G	probably benign	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Them6	A	G	15: 74,593,367 (GRCm39)	D75G	probably damaging	Het
Tnrc18	G	A	5: 142,773,029 (GRCm39)	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zbtb22	C	T	17: 34,135,920 (GRCm39)		probably benign	Het
Zfp235	A	G	7: 23,840,046 (GRCm39)	D225G	probably benign	Het

Other mutations in Clcnka

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Clcnka	APN	4	141,118,712 (GRCm39)	nonsense	probably null
IGL01420:Clcnka	APN	4	141,116,643 (GRCm39)	missense	probably benign	0.00
IGL01726:Clcnka	APN	4	141,120,051 (GRCm39)	critical splice donor site	probably null
IGL02676:Clcnka	APN	4	141,120,094 (GRCm39)	missense	probably damaging	0.97
IGL02983:Clcnka	APN	4	141,117,442 (GRCm39)	missense	probably damaging	0.99
IGL03182:Clcnka	APN	4	141,121,798 (GRCm39)	missense	probably damaging	1.00
free_trade	UTSW	4	141,122,469 (GRCm39)	nonsense	probably null
R0646:Clcnka	UTSW	4	141,123,917 (GRCm39)	missense	probably benign
R1292:Clcnka	UTSW	4	141,122,903 (GRCm39)	splice site	probably benign
R1479:Clcnka	UTSW	4	141,116,758 (GRCm39)	missense	possibly damaging	0.82
R1864:Clcnka	UTSW	4	141,120,113 (GRCm39)	missense	probably damaging	0.99
R5035:Clcnka	UTSW	4	141,122,469 (GRCm39)	nonsense	probably null
R5617:Clcnka	UTSW	4	141,116,628 (GRCm39)	missense	probably null	0.01
R5869:Clcnka	UTSW	4	141,122,276 (GRCm39)	missense	probably benign	0.08
R6048:Clcnka	UTSW	4	141,121,798 (GRCm39)	missense	probably damaging	1.00
R7042:Clcnka	UTSW	4	141,118,691 (GRCm39)	missense	probably damaging	0.97
R7068:Clcnka	UTSW	4	141,114,421 (GRCm39)	missense	probably damaging	0.99
R8016:Clcnka	UTSW	4	141,117,463 (GRCm39)	missense	possibly damaging	0.85
R8292:Clcnka	UTSW	4	141,125,272 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGATATGGAGCCTGTGTCC -3'
(R):5'- ACCAGCATGTTCATGGCAC -3'

Sequencing Primer
(F):5'- GATATGGAGCCTGTGTCCCCATC -3'
(R):5'- CACATAGTAGGGACTCAGATAATGTG -3'

Posted On

2015-04-02