Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Clcnkb'

661152

Institutional Source

Beutler Lab

Gene Symbol

Clcnkb

Ensembl Gene

ENSMUSG00000006216

Gene Name

chloride channel, voltage-sensitive Kb

Synonyms

Clcnk1l, ClC-K2, Clcnk2, Clck2

MMRRC Submission

068526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141131664-141143325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141139541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 154 (T154S)

Ref Sequence

ENSEMBL: ENSMUSP00000006378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006378] [ENSMUST00000105788]

AlphaFold

Q9WUB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006378
AA Change: T154S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216
AA Change: T154S

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	102	514	1.5e-77	PFAM
CBS	554	604	1.77e-2	SMART
Blast:CBS	629	678	1e-20	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105788
AA Change: T154S

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216
AA Change: T154S

Domain	Start	End	E-Value	Type
Pfam:Voltage_CLC	102	514	3.6e-72	PFAM
CBS	554	604	1.77e-2	SMART
Pfam:CBS	623	676	3.3e-5	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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 CLCNKA (geneID:1187). [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,861,166 (GRCm39)	E145K	probably damaging	Het
Ambp	A	T	4: 63,068,656 (GRCm39)	Y120*	probably null	Het
Ankrd36	C	T	11: 5,579,312 (GRCm39)	A192V	probably benign	Het
Apol7e	A	T	15: 77,601,803 (GRCm39)	M134L	probably benign	Het
Atg9b	A	T	5: 24,591,107 (GRCm39)	N774K	probably benign	Het
Catsperb	T	A	12: 101,560,596 (GRCm39)	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 129,646,948 (GRCm39)	D648V	probably damaging	Het
Cfap54	G	T	10: 92,790,934 (GRCm39)	P1855T	unknown	Het
Cux1	C	T	5: 136,279,454 (GRCm39)	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,252,667 (GRCm39)	D413G	possibly damaging	Het
Elp1	A	G	4: 56,771,453 (GRCm39)	L948P	probably damaging	Het
Flnc	T	C	6: 29,443,501 (GRCm39)		probably null	Het
Grm5	T	C	7: 87,765,498 (GRCm39)		probably null	Het
Hectd3	T	G	4: 116,853,778 (GRCm39)	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,082,976 (GRCm39)	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Larp4	C	A	15: 99,908,339 (GRCm39)	Q607K	probably benign	Het
Marchf8	A	G	6: 116,378,815 (GRCm39)	R250G	probably benign	Het
Med13	A	C	11: 86,161,923 (GRCm39)	N2135K	probably damaging	Het
Msh5	T	A	17: 35,264,909 (GRCm39)	R89*	probably null	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 113,022,609 (GRCm39)	Q261R	unknown	Het
Npr1	A	T	3: 90,363,464 (GRCm39)		probably benign	Het
Nynrin	T	A	14: 56,107,899 (GRCm39)	V1002E	possibly damaging	Het
Or2l5	T	C	16: 19,333,804 (GRCm39)	Y194C	possibly damaging	Het
Or4c103	A	T	2: 88,513,449 (GRCm39)	F209Y	probably benign	Het
Or4f14c	T	A	2: 111,941,333 (GRCm39)	K88M	probably damaging	Het
Or5w15	A	T	2: 87,567,990 (GRCm39)	L226Q	probably damaging	Het
Pcare	G	T	17: 72,058,372 (GRCm39)	A435E	probably benign	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Potefam1	T	C	2: 111,059,877 (GRCm39)		probably benign	Het
Potefam3e	T	A	8: 19,784,775 (GRCm39)	L203*	probably null	Het
Prkd1	T	A	12: 50,435,191 (GRCm39)	N512I	probably benign	Het
Pwwp2b	C	T	7: 138,836,326 (GRCm39)	P589L	probably damaging	Het
Rasgrp4	G	A	7: 28,842,452 (GRCm39)	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,467,973 (GRCm39)	V480G	probably damaging	Het
Rptn	A	G	3: 93,305,501 (GRCm39)	S945G	probably benign	Het
Slc22a2	C	T	17: 12,824,863 (GRCm39)	Q242*	probably null	Het
Slfn3	T	A	11: 83,103,825 (GRCm39)	V232E	probably benign	Het
Stab1	T	A	14: 30,879,365 (GRCm39)	K705M	probably damaging	Het
Syn2	C	A	6: 115,255,128 (GRCm39)	S480*	probably null	Het
Thsd4	A	T	9: 60,301,728 (GRCm39)	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,061,597 (GRCm39)	T250A	probably benign	Het
Tnc	A	T	4: 63,935,683 (GRCm39)	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,683,385 (GRCm39)	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,693,722 (GRCm39)		probably benign	Het
Xcl1	T	C	1: 164,759,419 (GRCm39)	M94V	probably benign	Het
Zfp369	T	C	13: 65,444,095 (GRCm39)	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,764,595 (GRCm39)	I279S	possibly damaging	Het
Zfp971	A	C	2: 177,675,730 (GRCm39)	Q443P	probably damaging	Het

Other mutations in Clcnkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Clcnkb	APN	4	141,136,701 (GRCm39)	missense	possibly damaging	0.85
IGL02750:Clcnkb	APN	4	141,132,673 (GRCm39)	critical splice acceptor site	probably null
IGL02894:Clcnkb	APN	4	141,135,130 (GRCm39)	missense	probably benign	0.00
R0193:Clcnkb	UTSW	4	141,139,627 (GRCm39)	missense	possibly damaging	0.60
R1427:Clcnkb	UTSW	4	141,132,620 (GRCm39)	missense	probably damaging	1.00
R1555:Clcnkb	UTSW	4	141,139,050 (GRCm39)	splice site	probably null
R1572:Clcnkb	UTSW	4	141,134,406 (GRCm39)	missense	possibly damaging	0.58
R1756:Clcnkb	UTSW	4	141,142,525 (GRCm39)	missense	possibly damaging	0.77
R1776:Clcnkb	UTSW	4	141,142,500 (GRCm39)	splice site	probably benign
R1879:Clcnkb	UTSW	4	141,135,130 (GRCm39)	missense	possibly damaging	0.95
R2149:Clcnkb	UTSW	4	141,135,328 (GRCm39)	missense	probably damaging	1.00
R2180:Clcnkb	UTSW	4	141,136,819 (GRCm39)	splice site	probably null
R2307:Clcnkb	UTSW	4	141,139,640 (GRCm39)	missense	probably damaging	1.00
R4393:Clcnkb	UTSW	4	141,139,547 (GRCm39)	missense	probably benign	0.00
R4758:Clcnkb	UTSW	4	141,135,160 (GRCm39)	missense	probably benign	0.00
R5416:Clcnkb	UTSW	4	141,141,211 (GRCm39)	missense	probably benign	0.33
R5906:Clcnkb	UTSW	4	141,139,610 (GRCm39)	missense	probably benign
R6185:Clcnkb	UTSW	4	141,141,825 (GRCm39)	missense	probably benign	0.00
R6299:Clcnkb	UTSW	4	141,138,034 (GRCm39)	missense	probably damaging	1.00
R6803:Clcnkb	UTSW	4	141,132,639 (GRCm39)	missense	probably benign
R6877:Clcnkb	UTSW	4	141,132,143 (GRCm39)	missense	probably benign	0.00
R7205:Clcnkb	UTSW	4	141,135,946 (GRCm39)	missense	probably damaging	1.00
R7330:Clcnkb	UTSW	4	141,137,923 (GRCm39)	missense	possibly damaging	0.67
R7332:Clcnkb	UTSW	4	141,141,243 (GRCm39)	missense	probably null	0.83
R7393:Clcnkb	UTSW	4	141,136,756 (GRCm39)	missense	probably benign
R7800:Clcnkb	UTSW	4	141,141,833 (GRCm39)	missense	probably benign	0.16
R7889:Clcnkb	UTSW	4	141,137,915 (GRCm39)	missense	probably benign	0.00
R8903:Clcnkb	UTSW	4	141,135,160 (GRCm39)	missense	possibly damaging	0.68
Z1177:Clcnkb	UTSW	4	141,135,262 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGAATGGCCCAGCATCAAATC -3'
(R):5'- CTGCAAGTGCTTGTTACACAGG -3'

Sequencing Primer
(F):5'- AGCATCAAATCCTTGTCCTAGC -3'
(R):5'- CTTGTTACACAGGCGCTAAAAG -3'

Posted On

2021-03-08