Mutagenetix > Incidental Mutation

Incidental Mutation 'R7418:Kcnk3'

575444

Institutional Source

Beutler Lab

Gene Symbol

Kcnk3

Ensembl Gene

ENSMUSG00000049265

Gene Name

potassium channel, subfamily K, member 3

Synonyms

cTBAK-1, Task-1

MMRRC Submission

045496-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R7418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30745514-30782614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30779675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 242 (V242M)

Ref Sequence

ENSEMBL: ENSMUSP00000098987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066295]

AlphaFold

O35111

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066295
AA Change: V242M

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098987
Gene: ENSMUSG00000049265
AA Change: V242M

Domain	Start	End	E-Value	Type
transmembrane domain	9	26	N/A	INTRINSIC
low complexity region	37	49	N/A	INTRINSIC
Pfam:Ion_trans_2	58	134	2.9e-20	PFAM
Pfam:Ion_trans_2	165	248	1.4e-21	PFAM
low complexity region	272	286	N/A	INTRINSIC
low complexity region	296	308	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null alleles exhibit decreased pH sensitivitive of action potential in serotonergic neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	T	G	10: 90,859,697 (GRCm39)	H827P	probably benign	Het
Atp8b3	A	T	10: 80,365,926 (GRCm39)	L308Q	probably damaging	Het
Ccdc180	T	C	4: 45,904,616 (GRCm39)	L404P	probably damaging	Het
Cdh13	G	A	8: 120,039,264 (GRCm39)	G569R	probably damaging	Het
Clec14a	G	A	12: 58,315,433 (GRCm39)	T63I	probably damaging	Het
Cngb1	G	T	8: 96,004,887 (GRCm39)	S487*	probably null	Het
Cog5	A	T	12: 31,883,240 (GRCm39)	N390Y	probably damaging	Het
Col6a4	C	T	9: 105,900,114 (GRCm39)	G1670S	probably damaging	Het
Daxx	T	A	17: 34,129,579 (GRCm39)	D53E	probably benign	Het
Dnah14	C	T	1: 181,444,307 (GRCm39)	T539I	possibly damaging	Het
Dnajc2	A	G	5: 21,965,622 (GRCm39)		probably null	Het
Ehmt1	C	T	2: 24,774,646 (GRCm39)	G53R	probably benign	Het
Eif2b1	T	A	5: 124,714,893 (GRCm39)	N113Y	probably benign	Het
Eya3	A	G	4: 132,408,159 (GRCm39)	T152A	possibly damaging	Het
Fam234b	G	A	6: 135,194,009 (GRCm39)	V221M	probably benign	Het
Fbxl13	T	A	5: 21,786,981 (GRCm39)	T319S	probably benign	Het
Fchsd2	G	T	7: 100,920,831 (GRCm39)	V479F	possibly damaging	Het
Fgd5	T	C	6: 92,001,519 (GRCm39)	S905P	probably benign	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Fxn	C	T	19: 24,257,860 (GRCm39)	V24I	probably benign	Het
Gapvd1	C	T	2: 34,615,130 (GRCm39)	D456N	probably benign	Het
Gm128	C	T	3: 95,147,878 (GRCm39)	V139M	possibly damaging	Het
Gm973	A	G	1: 59,565,972 (GRCm39)	T64A	probably damaging	Het
Gtf2h5	T	A	17: 6,134,903 (GRCm39)	N64K	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Haus6	A	G	4: 86,513,010 (GRCm39)	S386P	possibly damaging	Het
Hsh2d	A	G	8: 72,950,638 (GRCm39)		probably null	Het
Htt	T	C	5: 34,947,697 (GRCm39)	M125T	possibly damaging	Het
Inpp5d	T	A	1: 87,635,933 (GRCm39)		probably null	Het
Ints4	G	A	7: 97,140,179 (GRCm39)	A137T	probably benign	Het
Isl2	A	G	9: 55,451,636 (GRCm39)	D263G	probably benign	Het
Itgb5	T	G	16: 33,705,464 (GRCm39)	D251E	probably damaging	Het
Jpt1	A	T	11: 115,389,095 (GRCm39)	L116Q	probably damaging	Het
Kansl2	A	G	15: 98,429,775 (GRCm39)	S86P	possibly damaging	Het
Kat2b	G	T	17: 53,917,953 (GRCm39)	R104I	possibly damaging	Het
Kcna10	C	A	3: 107,102,362 (GRCm39)	A331D	probably benign	Het
Kdm4a	A	G	4: 118,017,440 (GRCm39)	L542P	probably damaging	Het
Kif20b	T	C	19: 34,907,087 (GRCm39)	F119L	probably damaging	Het
Krtcap3	A	T	5: 31,409,881 (GRCm39)	H149L	probably benign	Het
Lhx4	A	G	1: 155,586,005 (GRCm39)	V102A	probably damaging	Het
Luc7l	T	A	17: 26,472,156 (GRCm39)		probably benign	Het
Myh15	G	T	16: 48,975,900 (GRCm39)	A1323S	possibly damaging	Het
Myl1	T	A	1: 66,965,338 (GRCm39)	R151S	unknown	Het
Naif1	A	G	2: 32,342,583 (GRCm39)	S45G	probably benign	Het
Ndst4	C	T	3: 125,501,800 (GRCm39)	T121I	probably damaging	Het
Neurod6	C	T	6: 55,656,283 (GRCm39)	R118Q	probably damaging	Het
Npl	A	T	1: 153,413,257 (GRCm39)		probably null	Het
Nr4a3	T	C	4: 48,051,476 (GRCm39)	Y77H	probably damaging	Het
Or4a81	A	T	2: 89,619,320 (GRCm39)	C125*	probably null	Het
Or4b1	T	G	2: 89,979,831 (GRCm39)	D173A	probably damaging	Het
Pex11a	G	A	7: 79,392,735 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,359,470 (GRCm39)	F553I	unknown	Het
Sbf2	C	T	7: 109,965,028 (GRCm39)	R1002H	probably damaging	Het
Sectm1a	C	A	11: 120,960,119 (GRCm39)		probably null	Het
Slit3	G	A	11: 35,577,255 (GRCm39)	V1163M	possibly damaging	Het
Sphk2	G	A	7: 45,361,180 (GRCm39)	R275C	probably damaging	Het
Tango6	A	G	8: 107,415,466 (GRCm39)	S96G	probably benign	Het
Tg	A	G	15: 66,568,432 (GRCm39)	E1373G	probably damaging	Het
Traf3ip1	T	A	1: 91,435,458 (GRCm39)		probably null	Het
Trp53	T	C	11: 69,479,214 (GRCm39)	F131L	probably damaging	Het
Ttc21a	A	T	9: 119,788,117 (GRCm39)	E847D	probably benign	Het
Ttn	A	G	2: 76,602,791 (GRCm39)	F18477S	probably damaging	Het
Usp25	A	T	16: 76,910,730 (GRCm39)	R929*	probably null	Het
Usp49	G	T	17: 47,983,093 (GRCm39)	E33*	probably null	Het
Vmn1r63	A	G	7: 5,806,554 (GRCm39)	V26A	possibly damaging	Het
Vmn1r74	A	T	7: 11,581,081 (GRCm39)	Y127F	possibly damaging	Het
Wdfy3	C	T	5: 102,105,366 (GRCm39)	V154I	probably benign	Het
Xdh	A	G	17: 74,220,960 (GRCm39)	S590P	possibly damaging	Het
Zkscan4	A	G	13: 21,668,799 (GRCm39)	K446E	probably damaging	Het

Other mutations in Kcnk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Kcnk3	APN	5	30,779,727 (GRCm39)	missense	probably damaging	0.99
IGL02719:Kcnk3	APN	5	30,779,324 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Kcnk3	UTSW	5	30,779,712 (GRCm39)	missense	probably damaging	1.00
R0288:Kcnk3	UTSW	5	30,745,764 (GRCm39)	missense	probably benign
R0834:Kcnk3	UTSW	5	30,779,979 (GRCm39)	missense	probably damaging	1.00
R1740:Kcnk3	UTSW	5	30,779,321 (GRCm39)	missense	possibly damaging	0.95
R2656:Kcnk3	UTSW	5	30,780,015 (GRCm39)	missense	possibly damaging	0.55
R2923:Kcnk3	UTSW	5	30,779,414 (GRCm39)	missense	probably damaging	1.00
R3740:Kcnk3	UTSW	5	30,779,274 (GRCm39)	missense	possibly damaging	0.93
R4584:Kcnk3	UTSW	5	30,745,730 (GRCm39)	missense	probably damaging	0.99
R5010:Kcnk3	UTSW	5	30,780,149 (GRCm39)	missense	possibly damaging	0.79
R5070:Kcnk3	UTSW	5	30,779,730 (GRCm39)	missense	possibly damaging	0.77
R5427:Kcnk3	UTSW	5	30,779,639 (GRCm39)	missense	possibly damaging	0.86
R5669:Kcnk3	UTSW	5	30,779,693 (GRCm39)	missense	probably damaging	0.99
R5956:Kcnk3	UTSW	5	30,745,854 (GRCm39)	missense	probably damaging	1.00
R5982:Kcnk3	UTSW	5	30,780,014 (GRCm39)	missense	probably benign	0.18
R5986:Kcnk3	UTSW	5	30,745,722 (GRCm39)	missense	possibly damaging	0.68
R6318:Kcnk3	UTSW	5	30,779,930 (GRCm39)	missense	probably damaging	0.98
R6860:Kcnk3	UTSW	5	30,779,397 (GRCm39)	missense	possibly damaging	0.86
R6919:Kcnk3	UTSW	5	30,779,744 (GRCm39)	missense	probably benign	0.00
R7350:Kcnk3	UTSW	5	30,779,310 (GRCm39)	missense	probably damaging	1.00
R7502:Kcnk3	UTSW	5	30,780,062 (GRCm39)	missense	possibly damaging	0.85
R7922:Kcnk3	UTSW	5	30,745,875 (GRCm39)	missense	probably damaging	1.00
R8899:Kcnk3	UTSW	5	30,779,580 (GRCm39)	missense	probably benign	0.37
R8953:Kcnk3	UTSW	5	30,779,382 (GRCm39)	missense	probably damaging	1.00
R9180:Kcnk3	UTSW	5	30,745,532 (GRCm39)	start gained	probably benign
R9570:Kcnk3	UTSW	5	30,779,433 (GRCm39)	missense	possibly damaging	0.94
Z1177:Kcnk3	UTSW	5	30,780,048 (GRCm39)	missense	possibly damaging	0.80
Z1177:Kcnk3	UTSW	5	30,779,837 (GRCm39)	missense	probably benign
Z1177:Kcnk3	UTSW	5	30,745,618 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TACGAGCGCTGGACTTTCTTC -3'
(R):5'- TGGAGTACTGCAGCTTCTCG -3'

Sequencing Primer
(F):5'- GGACTTTCTTCCAGGCCTATTAC -3'
(R):5'- TCTTGTACCAGAGGCACGAG -3'

Posted On

2019-10-07