Mutagenetix > Incidental Mutation

Incidental Mutation 'R0279:Kcnk2'

24518

Institutional Source

Beutler Lab

Gene Symbol

Kcnk2

Ensembl Gene

ENSMUSG00000037624

Gene Name

potassium channel, subfamily K, member 2

Synonyms

TREK-1

MMRRC Submission

038501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

188940127-189134470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 188942169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 352 (A352T)

Ref Sequence

ENSEMBL: ENSMUSP00000141849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079451] [ENSMUST00000110920] [ENSMUST00000180044] [ENSMUST00000192723] [ENSMUST00000193319] [ENSMUST00000194402] [ENSMUST00000194172]

AlphaFold

P97438

Predicted Effect

probably benign
Transcript: ENSMUST00000079451
AA Change: A355T

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078416
Gene: ENSMUSG00000037624
AA Change: A355T

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_2	117	197	2e-20	PFAM
low complexity region	221	230	N/A	INTRINSIC
Pfam:Ion_trans_2	233	313	6.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110920
AA Change: A352T

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106545
Gene: ENSMUSG00000037624
AA Change: A352T

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_2	102	183	2.4e-21	PFAM
Pfam:Ion_trans_2	211	298	3.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180044

SMART Domains

Protein: ENSMUSP00000136513
Gene: ENSMUSG00000037624

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_2	102	183	2.4e-21	PFAM
Pfam:Ion_trans_2	211	298	3.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192529

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192723
AA Change: A352T

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141849
Gene: ENSMUSG00000037624
AA Change: A352T

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_2	102	183	2.4e-21	PFAM
Pfam:Ion_trans_2	211	298	3.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193319
AA Change: A367T

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141891
Gene: ENSMUSG00000037624
AA Change: A367T

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_2	117	198	2.5e-21	PFAM
Pfam:Ion_trans_2	226	313	3.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193686

Predicted Effect

probably benign
Transcript: ENSMUST00000194402
AA Change: A363T

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142026
Gene: ENSMUSG00000037624
AA Change: A363T

Domain	Start	End	E-Value	Type
transmembrane domain	57	76	N/A	INTRINSIC
Pfam:Ion_trans_2	113	194	1.4e-19	PFAM
Pfam:Ion_trans_2	222	309	2.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194444

Predicted Effect

probably benign
Transcript: ENSMUST00000194172

SMART Domains

Protein: ENSMUSP00000142176
Gene: ENSMUSG00000037624

Domain	Start	End	E-Value	Type
transmembrane domain	57	76	N/A	INTRINSIC
Pfam:Ion_trans_2	113	194	5e-20	PFAM
low complexity region	216	231	N/A	INTRINSIC

Meta Mutation Damage Score

0.0904

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.6%

Validation Efficiency

99% (82/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased sensitivity to pharmacologically induced seizures and ischemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528J11Rik	A	T	4: 118,386,490 (GRCm39)	M1L	probably benign	Het
5730596B20Rik	T	A	6: 52,156,182 (GRCm39)		probably benign	Het
Acrbp	T	C	6: 125,030,917 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acss3	A	G	10: 106,920,732 (GRCm39)	I126T	possibly damaging	Het
Aff3	T	C	1: 38,574,650 (GRCm39)	E110G	probably damaging	Het
Aldh1a3	T	C	7: 66,059,000 (GRCm39)	I113V	probably benign	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Atp2b4	A	G	1: 133,657,440 (GRCm39)		probably benign	Het
Atp8a1	C	T	5: 67,970,435 (GRCm39)		probably null	Het
Bhmt	A	G	13: 93,761,972 (GRCm39)	C104R	probably damaging	Het
Cct5	T	G	15: 31,591,177 (GRCm39)	E508A	probably damaging	Het
Celsr1	T	A	15: 85,787,065 (GRCm39)	E2761D	probably benign	Het
Clstn1	T	C	4: 149,728,131 (GRCm39)	S600P	probably damaging	Het
Cnppd1	A	G	1: 75,113,573 (GRCm39)	S232P	probably damaging	Het
Crybb3	T	C	5: 113,227,619 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,273,249 (GRCm39)	I861T	probably damaging	Het
Cyp2d10	A	C	15: 82,289,540 (GRCm39)	S191A	possibly damaging	Het
Ddx10	T	C	9: 53,146,604 (GRCm39)	D206G	probably damaging	Het
Dnah1	G	T	14: 31,024,332 (GRCm39)	H916N	possibly damaging	Het
Dnah9	A	G	11: 65,802,615 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Etnppl	A	G	3: 130,423,062 (GRCm39)	R248G	probably damaging	Het
Eya3	T	C	4: 132,446,558 (GRCm39)	F369L	probably damaging	Het
Fam170b	T	C	14: 32,556,025 (GRCm39)		probably benign	Het
Fli1	A	T	9: 32,372,723 (GRCm39)	V105D	probably damaging	Het
Fmo1	T	C	1: 162,657,841 (GRCm39)	I433M	possibly damaging	Het
Fndc3b	C	A	3: 27,511,155 (GRCm39)	C785F	probably benign	Het
Foxe3	T	C	4: 114,782,765 (GRCm39)	D149G	probably damaging	Het
Gk5	T	C	9: 96,056,857 (GRCm39)		probably benign	Het
Gm14226	A	G	2: 154,867,372 (GRCm39)	D443G	possibly damaging	Het
Gm9796	C	T	11: 95,588,821 (GRCm39)		noncoding transcript	Het
Golga4	A	T	9: 118,398,061 (GRCm39)	R52S	probably benign	Het
Hey2	C	A	10: 30,710,006 (GRCm39)	C249F	probably damaging	Het
Ipo9	A	T	1: 135,348,101 (GRCm39)		probably benign	Het
Ireb2	C	A	9: 54,793,877 (GRCm39)	T269K	probably benign	Het
Kansl3	A	G	1: 36,391,050 (GRCm39)	V274A	probably damaging	Het
Lamc2	T	C	1: 153,006,442 (GRCm39)	E903G	probably benign	Het
Lepr	A	G	4: 101,607,541 (GRCm39)	K253R	probably benign	Het
Lmntd2	T	C	7: 140,793,536 (GRCm39)		probably benign	Het
Lrrc39	A	T	3: 116,371,952 (GRCm39)	T240S	probably benign	Het
Lrrc43	A	G	5: 123,635,085 (GRCm39)		probably null	Het
Maf	T	C	8: 116,432,495 (GRCm39)	M370V	possibly damaging	Het
Mib2	G	A	4: 155,745,673 (GRCm39)	S46L	possibly damaging	Het
Mms22l	C	T	4: 24,497,867 (GRCm39)	T63I	probably damaging	Het
Morc2a	T	A	11: 3,633,989 (GRCm39)	S700R	probably benign	Het
Mpz	A	G	1: 170,987,498 (GRCm39)		probably benign	Het
Ncam2	T	C	16: 81,420,225 (GRCm39)		probably benign	Het
Niban1	T	C	1: 151,584,957 (GRCm39)		probably null	Het
Nudt14	C	T	12: 112,902,037 (GRCm39)	A123T	probably damaging	Het
Odad3	A	G	9: 21,901,543 (GRCm39)		probably benign	Het
Or10h1	C	T	17: 33,418,298 (GRCm39)	T92I	probably benign	Het
Or2a7	G	A	6: 43,151,692 (GRCm39)	M257I	probably benign	Het
Or9g20	A	T	2: 85,629,879 (GRCm39)	I245N	possibly damaging	Het
Otoa	T	C	7: 120,710,302 (GRCm39)		probably benign	Het
Pik3cg	G	A	12: 32,254,790 (GRCm39)	T399I	probably damaging	Het
Pkn3	C	T	2: 29,973,309 (GRCm39)	A377V	probably benign	Het
Ppan	A	G	9: 20,802,825 (GRCm39)	N327S	probably benign	Het
Prkca	T	C	11: 107,944,937 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,543,033 (GRCm39)	V320E	probably damaging	Het
Ptprq	A	G	10: 107,444,278 (GRCm39)	V1442A	probably damaging	Het
Rapgef1	C	T	2: 29,616,239 (GRCm39)	R834C	probably damaging	Het
Rbms1	G	T	2: 60,672,754 (GRCm39)	N44K	probably damaging	Het
Rfwd3	A	C	8: 112,009,365 (GRCm39)	F404V	probably benign	Het
Rimbp3	G	T	16: 17,027,317 (GRCm39)	R247L	probably benign	Het
Serpinb1b	T	C	13: 33,277,696 (GRCm39)	S310P	possibly damaging	Het
Smtn	C	A	11: 3,480,235 (GRCm39)	V329L	probably damaging	Het
Snapc2	T	C	8: 4,304,979 (GRCm39)		probably benign	Het
Spam1	A	T	6: 24,800,418 (GRCm39)	M386L	probably benign	Het
Syne2	A	G	12: 76,142,387 (GRCm39)	E6208G	probably damaging	Het
Teddm1a	T	C	1: 153,768,369 (GRCm39)	Y278H	probably damaging	Het
Tnfaip6	A	T	2: 51,945,928 (GRCm39)	N258I	possibly damaging	Het
Trpm4	C	T	7: 44,971,472 (GRCm39)	R188Q	probably damaging	Het
Ttbk2	A	T	2: 120,579,441 (GRCm39)	H491Q	probably benign	Het
Urgcp	C	T	11: 5,666,989 (GRCm39)	E450K	probably benign	Het
Vmn1r228	T	C	17: 20,996,637 (GRCm39)	N294D	probably benign	Het
Wdfy3	A	T	5: 102,015,958 (GRCm39)	C2606S	probably damaging	Het
Wdr33	T	A	18: 32,021,377 (GRCm39)	H642Q	unknown	Het
Zbtb46	A	G	2: 181,053,567 (GRCm39)	S382P	possibly damaging	Het
Zfp217	A	G	2: 169,961,700 (GRCm39)	I209T	probably benign	Het
Zranb3	T	A	1: 127,891,510 (GRCm39)	N822I	probably benign	Het

Other mutations in Kcnk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Kcnk2	APN	1	188,975,211 (GRCm39)	missense	probably damaging	0.96
IGL01100:Kcnk2	APN	1	189,072,133 (GRCm39)	missense	probably damaging	1.00
IGL01872:Kcnk2	APN	1	188,988,780 (GRCm39)	missense	probably damaging	1.00
IGL01929:Kcnk2	APN	1	189,072,227 (GRCm39)	missense	probably damaging	1.00
IGL02643:Kcnk2	APN	1	188,990,976 (GRCm39)	missense	possibly damaging	0.63
IGL03056:Kcnk2	APN	1	189,027,908 (GRCm39)	missense	possibly damaging	0.82
IGL03340:Kcnk2	APN	1	189,027,878 (GRCm39)	missense	possibly damaging	0.51
R0041:Kcnk2	UTSW	1	189,027,888 (GRCm39)	missense	probably benign	0.44
R0041:Kcnk2	UTSW	1	189,027,888 (GRCm39)	missense	probably benign	0.44
R0569:Kcnk2	UTSW	1	189,071,998 (GRCm39)	missense	probably damaging	1.00
R0645:Kcnk2	UTSW	1	188,988,927 (GRCm39)	splice site	probably null
R1070:Kcnk2	UTSW	1	188,988,960 (GRCm39)	splice site	probably benign
R1449:Kcnk2	UTSW	1	189,072,223 (GRCm39)	missense	probably benign	0.31
R2401:Kcnk2	UTSW	1	189,072,214 (GRCm39)	missense	possibly damaging	0.64
R4418:Kcnk2	UTSW	1	188,988,924 (GRCm39)	missense	probably damaging	1.00
R4923:Kcnk2	UTSW	1	189,072,133 (GRCm39)	missense	probably damaging	1.00
R5782:Kcnk2	UTSW	1	188,988,776 (GRCm39)	missense	probably damaging	1.00
R5845:Kcnk2	UTSW	1	189,009,918 (GRCm39)	intron	probably benign
R6140:Kcnk2	UTSW	1	188,942,104 (GRCm39)	missense	probably damaging	0.97
R6240:Kcnk2	UTSW	1	188,975,179 (GRCm39)	missense	probably damaging	1.00
R6881:Kcnk2	UTSW	1	188,942,187 (GRCm39)	missense	probably benign	0.00
R7990:Kcnk2	UTSW	1	188,942,102 (GRCm39)	missense	probably damaging	0.99
R8046:Kcnk2	UTSW	1	188,990,933 (GRCm39)	critical splice donor site	probably null
R8322:Kcnk2	UTSW	1	189,072,046 (GRCm39)	missense	probably benign	0.00
R9099:Kcnk2	UTSW	1	188,991,072 (GRCm39)	missense	probably damaging	1.00
R9482:Kcnk2	UTSW	1	188,988,891 (GRCm39)	frame shift	probably null
R9484:Kcnk2	UTSW	1	188,988,891 (GRCm39)	frame shift	probably null
R9576:Kcnk2	UTSW	1	188,988,891 (GRCm39)	frame shift	probably null
R9577:Kcnk2	UTSW	1	188,988,891 (GRCm39)	frame shift	probably null
R9578:Kcnk2	UTSW	1	188,988,891 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGACAGCTATGTCCTCACCAGCAC -3'
(R):5'- GTCACTGTGAGAGCATAGACAGCC -3'

Sequencing Primer
(F):5'- CAGCACAGTGTGGTGTCAG -3'
(R):5'- CACAAGATGTAGCTCCCATGTTG -3'

Posted On

2013-04-16