Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Kcnk2'

716412

Institutional Source

Beutler Lab

Gene Symbol

Kcnk2

Ensembl Gene

ENSMUSG00000037624

Gene Name

potassium channel, subfamily K, member 2

Synonyms

TREK-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R9484 (G1)

Quality Score

135.467

Status

Not validated

Chromosome

Chromosomal Location

189207930-189402273 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAAA to CAA at 189256694 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141891 (fasta)

Gene Model

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

AlphaFold

P97438

Predicted Effect

probably null
Transcript: ENSMUST00000079451

SMART Domains

Protein: ENSMUSP00000078416
Gene: ENSMUSG00000037624

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 null
Transcript: ENSMUST00000110920

SMART Domains

Protein: ENSMUSP00000106545
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 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 null
Transcript: ENSMUST00000192723

SMART Domains

Protein: ENSMUSP00000141849
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 null
Transcript: ENSMUST00000193319

SMART Domains

Protein: ENSMUSP00000141891
Gene: ENSMUSG00000037624

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 null
Transcript: ENSMUST00000194402

SMART Domains

Protein: ENSMUSP00000142026
Gene: ENSMUSG00000037624

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344	I193T	probably benign	Het
Btbd2	T	C	10: 80,644,269	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,356,833	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712	A96S	unknown	Het
Ddx24	A	T	12: 103,411,296	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,676,111	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825	E1262G	unknown	Het
Evl	T	A	12: 108,686,457	I387N	probably damaging	Het
Fat2	A	C	11: 55,309,926	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334	G366D	probably damaging	Het
Krtap5-3	T	A	7: 142,202,331	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991	L4S	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otogl	C	T	10: 107,901,295	G86D	probably damaging	Het
Papln	A	T	12: 83,791,844	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,644,894	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973		probably benign	Het
Stra8	T	A	6: 34,934,186	W250R	probably damaging	Het
Syne1	A	C	10: 5,220,359	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883	E27*	probably null	Het
Thada	C	A	17: 84,429,191	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944	Q457L	unknown	Het
Uba7	C	A	9: 107,983,838	H942Q	probably benign	Het
Upf2	T	C	2: 5,961,267	S233P	unknown	Het
Urm1	T	A	2: 29,842,748	N72K	probably damaging	Het
Usp10	T	C	8: 119,948,765	S508P	possibly damaging	Het
Usp37	G	A	1: 74,459,922	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157	I390V	possibly damaging	Het

Other mutations in Kcnk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Kcnk2	APN	1	189243014	missense	probably damaging	0.96
IGL01100:Kcnk2	APN	1	189339936	missense	probably damaging	1.00
IGL01872:Kcnk2	APN	1	189256583	missense	probably damaging	1.00
IGL01929:Kcnk2	APN	1	189340030	missense	probably damaging	1.00
IGL02643:Kcnk2	APN	1	189258779	missense	possibly damaging	0.63
IGL03056:Kcnk2	APN	1	189295711	missense	possibly damaging	0.82
IGL03340:Kcnk2	APN	1	189295681	missense	possibly damaging	0.51
R0041:Kcnk2	UTSW	1	189295691	missense	probably benign	0.44
R0041:Kcnk2	UTSW	1	189295691	missense	probably benign	0.44
R0279:Kcnk2	UTSW	1	189209972	missense	possibly damaging	0.58
R0569:Kcnk2	UTSW	1	189339801	missense	probably damaging	1.00
R0645:Kcnk2	UTSW	1	189256730	splice site	probably null
R1070:Kcnk2	UTSW	1	189256763	splice site	probably benign
R1449:Kcnk2	UTSW	1	189340026	missense	probably benign	0.31
R2401:Kcnk2	UTSW	1	189340017	missense	possibly damaging	0.64
R4418:Kcnk2	UTSW	1	189256727	missense	probably damaging	1.00
R4923:Kcnk2	UTSW	1	189339936	missense	probably damaging	1.00
R5782:Kcnk2	UTSW	1	189256579	missense	probably damaging	1.00
R5845:Kcnk2	UTSW	1	189277721	intron	probably benign
R6140:Kcnk2	UTSW	1	189209907	missense	probably damaging	0.97
R6240:Kcnk2	UTSW	1	189242982	missense	probably damaging	1.00
R6881:Kcnk2	UTSW	1	189209990	missense	probably benign	0.00
R7990:Kcnk2	UTSW	1	189209905	missense	probably damaging	0.99
R8046:Kcnk2	UTSW	1	189258736	critical splice donor site	probably null
R8322:Kcnk2	UTSW	1	189339849	missense	probably benign	0.00
R9099:Kcnk2	UTSW	1	189258875	missense	probably damaging	1.00
R9482:Kcnk2	UTSW	1	189256694	frame shift	probably null
R9576:Kcnk2	UTSW	1	189256694	frame shift	probably null
R9577:Kcnk2	UTSW	1	189256694	frame shift	probably null
R9578:Kcnk2	UTSW	1	189256694	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGAGTCTTTGGCATAGCAGC -3'
(R):5'- AACCGGATGAGCAAATGCAC -3'

Sequencing Primer
(F):5'- GAGCCTGTGTTCCGTTATAAACCAG -3'
(R):5'- TGAAGAAAACATTTTACCCGTGGG -3'

Posted On

2022-07-18