Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Kcnk2'

378740

Institutional Source

Beutler Lab

Gene Symbol

Kcnk2

Ensembl Gene

ENSMUSG00000037624

Gene Name

potassium channel, subfamily K, member 2

Synonyms

TREK-1

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

188940127-189134470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 189072133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 65 (V65D)

Ref Sequence

ENSEMBL: ENSMUSP00000142026 (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: V57D

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

SMART Domains

Protein: ENSMUSP00000078416
Gene: ENSMUSG00000037624
AA Change: V57D

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: V54D

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

SMART Domains

Protein: ENSMUSP00000106545
Gene: ENSMUSG00000037624
AA Change: V54D

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: ENSMUST00000180044
AA Change: V65D

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

SMART Domains

Protein: ENSMUSP00000136513
Gene: ENSMUSG00000037624
AA Change: V65D

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: ENSMUST00000191809

Predicted Effect

probably damaging
Transcript: ENSMUST00000192723
AA Change: V54D

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

SMART Domains

Protein: ENSMUSP00000141849
Gene: ENSMUSG00000037624
AA Change: V54D

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: ENSMUST00000192797

Predicted Effect

probably damaging
Transcript: ENSMUST00000193319
AA Change: V69D

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

SMART Domains

Protein: ENSMUSP00000141891
Gene: ENSMUSG00000037624
AA Change: V69D

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: ENSMUST00000195016

Predicted Effect

probably damaging
Transcript: ENSMUST00000194172
AA Change: V65D

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

SMART Domains

Protein: ENSMUSP00000142176
Gene: ENSMUSG00000037624
AA Change: V65D

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: V65D

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

SMART Domains

Protein: ENSMUSP00000142026
Gene: ENSMUSG00000037624
AA Change: V65D

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

0.7583

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Arfgap2	G	A	2: 91,104,004 (GRCm39)	G353R	probably damaging	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Cars1	A	T	7: 143,123,587 (GRCm39)	Y455N	probably damaging	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Impg1	G	A	9: 80,252,360 (GRCm39)	Q607*	probably null	Het
Impg1	T	A	9: 80,252,827 (GRCm39)	E374V	probably damaging	Het
Itgax	C	T	7: 127,747,700 (GRCm39)	L1039F	probably benign	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pde7b	G	T	10: 20,288,873 (GRCm39)	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Sos1	T	C	17: 80,742,381 (GRCm39)	N382S	probably benign	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmeff2	T	A	1: 50,969,804 (GRCm39)	V90D	probably benign	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,190,035 (GRCm39)	I204V	probably benign	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	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
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
R4418:Kcnk2	UTSW	1	188,988,924 (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'- TTTCACTGGGGCCATTACCTG -3'
(R):5'- TGACCCCTCCTTAAAGAAGCAG -3'

Sequencing Primer
(F):5'- TGGATCACAATGGTGGTC -3'
(R):5'- CCAAATTCTCTGTCATTGTCAGTGG -3'

Posted On

2016-04-15