Mutagenetix > Incidental Mutation

Incidental Mutation 'R5982:Kcnk3'

481441

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

044163-MU

Accession Numbers

Essential gene?

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

Stock #

R5982 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30745514-30782614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30780014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 355 (V355L)

Ref Sequence

ENSEMBL: ENSMUSP00000098987 (fasta)

Gene Model

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

AlphaFold

O35111

Predicted Effect

probably benign
Transcript: ENSMUST00000066295
AA Change: V355L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098987
Gene: ENSMUSG00000049265
AA Change: V355L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197428

Meta Mutation Damage Score

0.0580

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,423 (GRCm39)	E931D	possibly damaging	Het
Aebp1	C	T	11: 5,817,911 (GRCm39)	T62I	possibly damaging	Het
Babam2	A	T	5: 31,977,964 (GRCm39)	E139V	possibly damaging	Het
Bclaf1	C	T	10: 20,198,809 (GRCm39)	R67*	probably null	Het
Bcr	C	A	10: 75,012,248 (GRCm39)	T51K	probably benign	Het
Best3	T	A	10: 116,840,322 (GRCm39)	C251S	probably damaging	Het
Birc6	A	G	17: 74,955,153 (GRCm39)	M3457V	probably benign	Het
C87436	C	A	6: 86,422,957 (GRCm39)	T177K	possibly damaging	Het
Cabin1	T	A	10: 75,561,394 (GRCm39)	T1036S	probably benign	Het
Catsperg2	C	A	7: 29,412,442 (GRCm39)	V383L	possibly damaging	Het
Ccdc182	C	T	11: 88,185,165 (GRCm39)	Q82*	probably null	Het
Ccl9	T	C	11: 83,466,700 (GRCm39)	T76A	probably damaging	Het
Cdc16	G	T	8: 13,831,399 (GRCm39)	C544F	possibly damaging	Het
Cdh18	A	C	15: 23,474,302 (GRCm39)	D724A	possibly damaging	Het
Cdip1	G	A	16: 4,587,946 (GRCm39)	P6S	probably damaging	Het
Col12a1	A	G	9: 79,537,842 (GRCm39)	V2542A	probably damaging	Het
Dnajc13	G	T	9: 104,061,814 (GRCm39)	T1380K	possibly damaging	Het
Dsg4	T	A	18: 20,598,226 (GRCm39)	S715T	possibly damaging	Het
Dync2h1	G	T	9: 6,955,986 (GRCm39)	T4132K	probably benign	Het
Egfem1	A	T	3: 29,711,419 (GRCm39)		probably null	Het
Etl4	G	T	2: 20,785,826 (GRCm39)	V716L	probably damaging	Het
Exoc3l2	A	G	7: 19,213,957 (GRCm39)	E461G	unknown	Het
Fam135b	A	G	15: 71,320,518 (GRCm39)		probably null	Het
Flrt3	G	T	2: 140,502,836 (GRCm39)	P264Q	possibly damaging	Het
Fmn2	G	C	1: 174,330,019 (GRCm39)	E136D	unknown	Het
Fosl2	A	G	5: 32,304,217 (GRCm39)	I51V	probably benign	Het
Foxm1	A	G	6: 128,347,998 (GRCm39)	T307A	probably damaging	Het
Garem1	T	C	18: 21,281,408 (GRCm39)	D316G	possibly damaging	Het
Gm14403	A	T	2: 177,200,345 (GRCm39)	H97L	probably damaging	Het
Gm5616	A	G	9: 48,361,890 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,229,589 (GRCm39)	D696G	probably benign	Het
Igkv1-88	C	A	6: 68,839,432 (GRCm39)	W60L	probably damaging	Het
Iqgap3	G	A	3: 87,998,899 (GRCm39)	W333*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kmt5c	A	C	7: 4,749,790 (GRCm39)	K436T	probably damaging	Het
Lynx1	T	C	15: 74,623,264 (GRCm39)	Y56C	possibly damaging	Het
Lypd5	T	C	7: 24,052,462 (GRCm39)	S149P	probably damaging	Het
Map3k21	A	T	8: 126,638,169 (GRCm39)	N252Y	probably damaging	Het
Mgat2	T	C	12: 69,232,454 (GRCm39)	W343R	probably damaging	Het
Misp	T	G	10: 79,663,728 (GRCm39)	Y567*	probably null	Het
Mrgprb1	A	T	7: 48,097,568 (GRCm39)	S115T	probably benign	Het
Muc16	A	C	9: 18,558,442 (GRCm39)	I2617R	unknown	Het
Myo19	T	A	11: 84,790,226 (GRCm39)	V394E	probably damaging	Het
Myo9b	T	A	8: 71,801,040 (GRCm39)	L1065Q	probably benign	Het
Nap1l1	A	G	10: 111,331,229 (GRCm39)	D405G	possibly damaging	Het
Napb	A	T	2: 148,542,411 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,443,431 (GRCm39)	Y1162C	probably benign	Het
Nfam1	A	T	15: 82,917,325 (GRCm39)	L36Q	probably damaging	Het
Nrros	T	C	16: 31,963,411 (GRCm39)	D202G	probably damaging	Het
Or51k1	T	G	7: 103,661,117 (GRCm39)	H264P	probably damaging	Het
Or7a39	T	G	10: 78,715,787 (GRCm39)	Y260*	probably null	Het
Osgin2	T	C	4: 15,998,908 (GRCm39)	E238G	probably benign	Het
Papss2	A	G	19: 32,616,636 (GRCm39)	T221A	probably benign	Het
Pcdhga12	A	C	18: 37,901,084 (GRCm39)	K639Q	probably damaging	Het
Pkhd1l1	T	A	15: 44,352,900 (GRCm39)		probably null	Het
Pmepa1	A	G	2: 173,076,105 (GRCm39)	S83P	possibly damaging	Het
Pnp	G	A	14: 51,188,000 (GRCm39)	V118M	probably damaging	Het
Ppat	T	C	5: 77,063,112 (GRCm39)	T500A	probably benign	Het
Pramel22	C	A	4: 143,381,034 (GRCm39)	V330F	probably damaging	Het
Rab11fip4	A	G	11: 79,581,601 (GRCm39)	N532S	probably benign	Het
Rbm25	A	G	12: 83,718,725 (GRCm39)	D499G	probably damaging	Het
Rnf139	A	G	15: 58,770,687 (GRCm39)	I237M	possibly damaging	Het
Rrp15	C	T	1: 186,471,952 (GRCm39)	S85N	possibly damaging	Het
Sidt1	T	C	16: 44,082,071 (GRCm39)	Y568C	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Sltm	G	C	9: 70,494,086 (GRCm39)	E828Q	probably damaging	Het
Spindoc	A	G	19: 7,351,960 (GRCm39)	I129T	probably damaging	Het
Spire1	T	A	18: 67,630,386 (GRCm39)		probably null	Het
Styx	A	G	14: 45,605,909 (GRCm39)	T138A	probably benign	Het
Sv2c	A	T	13: 96,112,571 (GRCm39)	L642*	probably null	Het
Taf7	T	C	18: 37,776,498 (GRCm39)	E23G	probably damaging	Het
Tcp10a	A	T	17: 7,612,425 (GRCm39)	T406S	possibly damaging	Het
Tnrc6b	T	A	15: 80,765,017 (GRCm39)	S840T	probably benign	Het
Tns3	A	G	11: 8,442,245 (GRCm39)	I706T	probably damaging	Het
Tpsab1	A	G	17: 25,564,346 (GRCm39)	V36A	probably benign	Het
Trafd1	T	A	5: 121,511,342 (GRCm39)	D492V	probably damaging	Het
Trp53	A	G	11: 69,478,244 (GRCm39)	E51G	probably benign	Het
Vdr	C	T	15: 97,755,477 (GRCm39)	A349T	probably benign	Het
Vmn2r59	T	C	7: 41,695,491 (GRCm39)	D307G	probably benign	Het
Zfp365	C	A	10: 67,733,437 (GRCm39)	V252F	probably damaging	Het
Zfp830	T	A	11: 82,655,803 (GRCm39)	N202K	probably benign	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
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
R7418:Kcnk3	UTSW	5	30,779,675 (GRCm39)	missense	possibly damaging	0.57
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'- TCATGACCATGAACGCCGAG -3'
(R):5'- TAGCCTGCACAGTTGGAGATTTAG -3'

Sequencing Primer
(F):5'- ACCCAGTCACATGCGCTG -3'
(R):5'- TCACAGGTGCTCCAGGTCTG -3'

Posted On

2017-06-26