Mutagenetix > Incidental Mutation

Incidental Mutation 'R4418:Kcnk2'

326912

Institutional Source

Beutler Lab

Gene Symbol

Kcnk2

Ensembl Gene

ENSMUSG00000037624

Gene Name

potassium channel, subfamily K, member 2

Synonyms

TREK-1

MMRRC Submission

041139-MU

Accession Numbers

Essential gene?

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

Stock #

R4418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

188940127-189134470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 188988924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 207 (R207C)

Ref Sequence

ENSEMBL: ENSMUSP00000141849 (fasta)

Gene Model

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

AlphaFold

P97438

Predicted Effect

probably damaging
Transcript: ENSMUST00000079451
AA Change: R210C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078416
Gene: ENSMUSG00000037624
AA Change: R210C

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

probably damaging
Transcript: ENSMUST00000110920
AA Change: R207C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106545
Gene: ENSMUSG00000037624
AA Change: R207C

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

probably damaging
Transcript: ENSMUST00000192723
AA Change: R207C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141849
Gene: ENSMUSG00000037624
AA Change: R207C

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 damaging
Transcript: ENSMUST00000193319
AA Change: R222C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141891
Gene: ENSMUSG00000037624
AA Change: R222C

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

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000194402
AA Change: R218C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142026
Gene: ENSMUSG00000037624
AA Change: R218C

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

Meta Mutation Damage Score

0.3973

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (72/76)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 159,872,372 (GRCm39)		noncoding transcript	Het
Acot12	A	G	13: 91,932,524 (GRCm39)	T507A	possibly damaging	Het
Agap2	T	G	10: 126,927,519 (GRCm39)	C1113W	probably damaging	Het
Ap3s1-ps2	A	T	8: 95,131,921 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,146,413 (GRCm39)	R39G	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cdcp3	A	T	7: 130,849,194 (GRCm39)	D899V	possibly damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Col6a1	T	A	10: 76,554,239 (GRCm39)	K323*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dclre1c	T	C	2: 3,453,972 (GRCm39)	F285S	possibly damaging	Het
Dctn2	T	G	10: 127,114,234 (GRCm39)	M360R	probably benign	Het
Dele1	T	C	18: 38,394,340 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,563,963 (GRCm39)	L462Q	probably damaging	Het
Drg2	A	C	11: 60,358,972 (GRCm39)	K364T	probably damaging	Het
Dync1li1	T	A	9: 114,535,238 (GRCm39)	S167R	probably damaging	Het
Entrep1	T	C	19: 23,956,799 (GRCm39)	T365A	probably benign	Het
Fer	A	T	17: 64,336,286 (GRCm39)	D554V	possibly damaging	Het
Fignl2	A	G	15: 100,951,830 (GRCm39)	S151P	possibly damaging	Het
Gbgt1	A	G	2: 28,388,420 (GRCm39)	Y35C	probably damaging	Het
Gm6526	T	A	14: 43,986,302 (GRCm39)	I79K	probably damaging	Het
Gpr6	T	G	10: 40,946,604 (GRCm39)	N326T	probably damaging	Het
H2bc4	C	T	13: 23,868,486 (GRCm39)	T91M	probably damaging	Het
Hcn4	C	T	9: 58,751,178 (GRCm39)	T268M	probably benign	Het
Hnf4g	A	G	3: 3,713,154 (GRCm39)	M243V	possibly damaging	Het
Homer1	A	G	13: 93,538,577 (GRCm39)	E314G	probably damaging	Het
Hs6st1	T	C	1: 36,143,108 (GRCm39)	Y348H	probably damaging	Het
Ifitm6	A	T	7: 140,595,984 (GRCm39)	I103N	probably damaging	Het
Ipo5	T	G	14: 121,181,305 (GRCm39)	C944G	possibly damaging	Het
Kcnb1	C	A	2: 166,947,595 (GRCm39)	E418*	probably null	Het
Kctd8	T	C	5: 69,498,505 (GRCm39)	E47G	probably damaging	Het
Klhdc2	C	T	12: 69,354,371 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,509,140 (GRCm39)		probably benign	Het
Mgat1	A	G	11: 49,152,072 (GRCm39)	Y185C	probably damaging	Het
Mmp25	T	A	17: 23,863,044 (GRCm39)	R122S	probably damaging	Het
Mrpl39	C	A	16: 84,522,012 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nek1	T	C	8: 61,559,898 (GRCm39)	F1007S	probably damaging	Het
Neto1	T	C	18: 86,422,981 (GRCm39)	M146T	probably benign	Het
Opn1sw	G	A	6: 29,379,423 (GRCm39)	R45*	probably null	Het
Osbpl5	A	T	7: 143,263,552 (GRCm39)	C98*	probably null	Het
Pacc1	T	A	1: 191,080,629 (GRCm39)	V283E	probably damaging	Het
Pcdhb7	C	T	18: 37,476,535 (GRCm39)	A557V	probably benign	Het
Pecam1	A	G	11: 106,586,748 (GRCm39)	F155L	possibly damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pmfbp1	C	A	8: 110,257,265 (GRCm39)	Q609K	probably benign	Het
Pnpo	A	T	11: 96,831,795 (GRCm39)		probably null	Het
Ppp2cb	G	A	8: 34,107,077 (GRCm39)	R254Q	probably benign	Het
Qser1	A	T	2: 104,619,766 (GRCm39)	S349T	probably damaging	Het
Rnf167	T	A	11: 70,538,743 (GRCm39)	W17R	probably damaging	Het
Rpl21-ps4	A	G	14: 11,227,879 (GRCm38)		noncoding transcript	Het
Rxfp2	A	T	5: 149,972,265 (GRCm39)	H158L	probably benign	Het
Ryr3	C	T	2: 112,661,569 (GRCm39)	C1807Y	probably damaging	Het
Scaper	T	A	9: 55,745,464 (GRCm39)	E601D	probably damaging	Het
Secisbp2l	A	T	2: 125,594,835 (GRCm39)	C542S	probably benign	Het
Slc6a19	A	G	13: 73,832,514 (GRCm39)	V393A	possibly damaging	Het
Stil	A	G	4: 114,866,574 (GRCm39)	N176S	probably benign	Het
Tap1	T	A	17: 34,407,353 (GRCm39)		probably null	Het
Tcl1b3	A	T	12: 105,159,844 (GRCm39)	Q105L	probably damaging	Het
Trappc10	G	T	10: 78,053,022 (GRCm39)	A251D	probably damaging	Het
Trim43a	G	T	9: 88,464,206 (GRCm39)	C39F	probably damaging	Het
Ttn	A	T	2: 76,719,825 (GRCm39)		probably benign	Het
Vmn2r110	A	T	17: 20,803,951 (GRCm39)	L208*	probably null	Het
Vmn2r88	G	T	14: 51,655,538 (GRCm39)	L583F	probably damaging	Het
Wasf1	C	T	10: 40,812,578 (GRCm39)	H456Y	unknown	Het
Zfp120	A	G	2: 149,960,105 (GRCm39)	I73T	possibly damaging	Het
Zfp990	T	C	4: 145,263,298 (GRCm39)	C99R	possibly damaging	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
R0279:Kcnk2	UTSW	1	188,942,169 (GRCm39)	missense	possibly damaging	0.58
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
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'- AAGCCTTACCTGCCACGTAG -3'
(R):5'- TGAAGAAAACATTTTACCCGTGGG -3'

Sequencing Primer
(F):5'- GTAGTCTCCAAATCCAATGGTCG -3'
(R):5'- GTCGTTCTGGCTTATTTACAGTATAC -3'

Posted On

2015-07-07