Mutagenetix > Incidental Mutation

Incidental Mutation 'R5669:Kcnk3'

442500

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

043312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R5669 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

30745514-30782614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30779693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 248 (T248A)

Ref Sequence

ENSEMBL: ENSMUSP00000098987 (fasta)

Gene Model

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

AlphaFold

O35111

Predicted Effect

probably damaging
Transcript: ENSMUST00000066295
AA Change: T248A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098987
Gene: ENSMUSG00000049265
AA Change: T248A

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Akap9	T	A	5: 4,100,540 (GRCm39)	L2734*	probably null	Het
Aldh1a1	T	C	19: 20,588,284 (GRCm39)	I25T	probably damaging	Het
Astl	G	T	2: 127,189,199 (GRCm39)	R175L	probably damaging	Het
BC035947	A	T	1: 78,474,550 (GRCm39)	C661S	probably damaging	Het
Cd160	C	T	3: 96,716,214 (GRCm39)		probably benign	Het
Cdc42bpb	C	T	12: 111,268,447 (GRCm39)		probably null	Het
Cdip1	T	A	16: 4,586,679 (GRCm39)	I149F	probably damaging	Het
Cfap65	T	C	1: 74,964,127 (GRCm39)	Y607C	probably damaging	Het
Col6a5	A	G	9: 105,803,197 (GRCm39)	I1256T	unknown	Het
Copb1	A	G	7: 113,836,820 (GRCm39)	V336A	probably damaging	Het
Ddx42	A	T	11: 106,132,645 (GRCm39)	D556V	probably damaging	Het
Dlk1	T	C	12: 109,425,964 (GRCm39)	V279A	probably benign	Het
Fbll1	T	C	11: 35,688,411 (GRCm39)	N284S	probably benign	Het
Fbxw21	A	T	9: 108,974,578 (GRCm39)	I314N	probably benign	Het
Foxa3	T	C	7: 18,748,176 (GRCm39)	T317A	probably benign	Het
Gpr37	A	T	6: 25,669,351 (GRCm39)	C498S	probably benign	Het
Hapln3	G	T	7: 78,767,244 (GRCm39)		probably null	Het
Igkv4-54	A	G	6: 69,608,832 (GRCm39)	V29A	possibly damaging	Het
Itgb8	T	A	12: 119,154,363 (GRCm39)	I225F	probably damaging	Het
Kcnv1	T	C	15: 44,977,648 (GRCm39)	Q130R	possibly damaging	Het
Lrp1b	T	C	2: 41,001,050 (GRCm39)	H2058R	probably damaging	Het
Macf1	T	A	4: 123,370,018 (GRCm39)	E1581V	probably damaging	Het
Mga	A	G	2: 119,733,907 (GRCm39)	N252D	probably damaging	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Or10ag53	T	C	2: 87,082,785 (GRCm39)	V168A	probably benign	Het
Or7e165	T	C	9: 19,695,053 (GRCm39)	F208S	probably benign	Het
Pak5	G	A	2: 135,958,204 (GRCm39)	P295S	probably damaging	Het
Pcsk1	T	A	13: 75,278,221 (GRCm39)	S595T	probably benign	Het
Pepd	T	C	7: 34,740,099 (GRCm39)	V324A	probably benign	Het
Pml	C	T	9: 58,154,346 (GRCm39)	D176N	probably benign	Het
Popdc3	T	A	10: 45,192,529 (GRCm39)	I163N	probably damaging	Het
Ppp1r13l	A	C	7: 19,106,947 (GRCm39)	T481P	probably benign	Het
Pramel13	T	C	4: 144,122,413 (GRCm39)	I44V	probably benign	Het
Prlh	A	G	1: 90,880,842 (GRCm39)	T5A	probably benign	Het
Prom1	A	G	5: 44,170,285 (GRCm39)	F638S	possibly damaging	Het
Prpf8	T	A	11: 75,395,564 (GRCm39)	L1897H	probably damaging	Het
Ret	T	C	6: 118,161,204 (GRCm39)	T91A	probably benign	Het
Retsat	A	G	6: 72,582,993 (GRCm39)	S176G	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,349,611 (GRCm39)	L3823P	possibly damaging	Het
Rnf31	C	T	14: 55,834,161 (GRCm39)	A653V	probably damaging	Het
Rps6kl1	T	C	12: 85,194,641 (GRCm39)	D90G	probably damaging	Het
Scarb1	A	G	5: 125,377,451 (GRCm39)	Y194H	probably damaging	Het
Scube2	C	T	7: 109,424,646 (GRCm39)	A556T	probably benign	Het
Serpinb1a	A	G	13: 33,029,299 (GRCm39)	L243P	probably damaging	Het
Slc39a4	A	C	15: 76,498,363 (GRCm39)	L358R	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Srgap1	C	A	10: 121,640,755 (GRCm39)	V681L	probably benign	Het
Tmprss6	A	T	15: 78,339,156 (GRCm39)	M262K	possibly damaging	Het
Ttf2	T	A	3: 100,858,433 (GRCm39)	K719*	probably null	Het
Vmn1r62	T	A	7: 5,678,736 (GRCm39)	L139*	probably null	Het
Zfp1004	A	G	2: 150,034,098 (GRCm39)	I140V	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
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
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'- ACGAGCGCTGGACTTTCTTC -3'
(R):5'- AGCACATGGACTGGAAGTGC -3'

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

Posted On

2016-11-09