Mutagenetix > Incidental Mutation

Incidental Mutation 'R5743:Kcnk4'

445699

Institutional Source

Beutler Lab

Gene Symbol

Kcnk4

Ensembl Gene

ENSMUSG00000024957

Gene Name

potassium channel, subfamily K, member 4

Synonyms

TRAAKt

MMRRC Submission

043353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6903030-6912261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6905723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 81 (N81K)

Ref Sequence

ENSEMBL: ENSMUSP00000025908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025908] [ENSMUST00000057716]

AlphaFold

O88454

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025908
AA Change: N81K

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
AA Change: N81K

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	2	147	8.1e-9	PFAM
Pfam:Ion_trans_2	64	145	1.7e-21	PFAM
Pfam:Ion_trans_2	174	260	5.3e-22	PFAM
low complexity region	303	319	N/A	INTRINSIC
low complexity region	367	390	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000057716

SMART Domains

Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623

Domain	Start	End	E-Value	Type
low complexity region	104	118	N/A	INTRINSIC
low complexity region	137	146	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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 TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit normal sensitivity to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,416,536 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,391,629 (GRCm39)		probably null	Het
Arhgap20	T	A	9: 51,728,027 (GRCm39)	M80K	probably benign	Het
Arhgap29	T	G	3: 121,775,560 (GRCm39)	L37R	probably damaging	Het
Baiap3	G	A	17: 25,463,759 (GRCm39)	P906S	probably benign	Het
Caskin2	T	A	11: 115,693,115 (GRCm39)	N603I	possibly damaging	Het
Catspere2	G	T	1: 177,950,328 (GRCm39)		silent	Het
Ccdc159	A	T	9: 21,840,686 (GRCm39)	E84D	probably benign	Het
Ccl1	T	G	11: 82,067,712 (GRCm39)	S73R	possibly damaging	Het
Cdh20	G	T	1: 110,036,575 (GRCm39)	C585F	probably damaging	Het
Cga	T	C	4: 34,904,108 (GRCm39)		probably null	Het
Coq5	A	C	5: 115,417,941 (GRCm39)	E57A	probably benign	Het
Cstf1	T	A	2: 172,219,753 (GRCm39)	L288Q	probably damaging	Het
Ctsll3	G	T	13: 60,948,815 (GRCm39)	Q47K	probably benign	Het
Dchs1	T	A	7: 105,420,803 (GRCm39)	Q539L	probably benign	Het
Fbxo46	C	A	7: 18,870,420 (GRCm39)	D346E	probably damaging	Het
Frem3	A	T	8: 81,342,407 (GRCm39)	T1567S	probably damaging	Het
Glce	T	A	9: 61,977,822 (GRCm39)	T21S	probably damaging	Het
Gm19402	C	T	10: 77,526,516 (GRCm39)	D26N	probably damaging	Het
Gm20830	A	G	Y: 6,916,664 (GRCm39)	Y152H	probably damaging	Het
Herc3	T	C	6: 58,895,784 (GRCm39)	Y1011H	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Il31ra	G	T	13: 112,664,021 (GRCm39)	T552K	possibly damaging	Het
Itga2	A	G	13: 115,021,042 (GRCm39)	V86A	probably damaging	Het
Lrp2	C	A	2: 69,297,221 (GRCm39)	D3247Y	probably damaging	Het
Maml3	G	T	3: 52,011,553 (GRCm39)	F4L	unknown	Het
Mcpt1	A	T	14: 56,256,072 (GRCm39)	H37L	probably benign	Het
Mpdz	T	C	4: 81,339,425 (GRCm39)	M1V	probably null	Het
Myom2	A	T	8: 15,130,914 (GRCm39)	K283N	possibly damaging	Het
Nrxn1	C	A	17: 90,950,652 (GRCm39)	R509L	probably damaging	Het
Ntng1	T	A	3: 110,042,736 (GRCm39)	Y30F	probably damaging	Het
Or52e7	A	G	7: 104,685,363 (GRCm39)		probably null	Het
Or8c13	C	A	9: 38,092,014 (GRCm39)	C35F	probably benign	Het
Or8h8	C	A	2: 86,753,549 (GRCm39)	G109V	probably benign	Het
Orc6	A	T	8: 86,029,585 (GRCm39)	Q43L	probably benign	Het
Otogl	G	A	10: 107,692,862 (GRCm39)	S874L	possibly damaging	Het
Pcdh9	T	C	14: 94,124,160 (GRCm39)	D670G	probably damaging	Het
Pcdhga9	A	T	18: 37,871,859 (GRCm39)	I563F	probably damaging	Het
Plxna1	A	T	6: 89,333,511 (GRCm39)	S373T	probably damaging	Het
Prop1	T	C	11: 50,841,836 (GRCm39)	D190G	probably damaging	Het
Qrich1	T	A	9: 108,411,314 (GRCm39)	Y280N	probably damaging	Het
Rasl10a	T	A	11: 5,009,519 (GRCm39)	D102E	probably benign	Het
Rgs1	T	C	1: 144,121,110 (GRCm39)	Y187C	probably damaging	Het
Sema5b	T	A	16: 35,478,846 (GRCm39)	W557R	probably damaging	Het
Sh2b3	A	T	5: 121,966,520 (GRCm39)	L198H	probably damaging	Het
Slc27a3	G	T	3: 90,294,379 (GRCm39)	T429K	probably benign	Het
Slc35f1	T	G	10: 52,965,546 (GRCm39)	D320E	probably benign	Het
Smug1	C	A	15: 103,066,043 (GRCm39)		probably null	Het
Spata31f3	G	A	4: 42,873,087 (GRCm39)	T68I	probably damaging	Het
Ssrp1	T	A	2: 84,871,512 (GRCm39)	Y311*	probably null	Het
Svep1	T	C	4: 58,096,223 (GRCm39)	T1466A	possibly damaging	Het
Tmem130	A	G	5: 144,687,749 (GRCm39)	S196P	probably damaging	Het
Trim30d	A	T	7: 104,121,535 (GRCm39)	C176*	probably null	Het
Ush2a	A	G	1: 188,169,159 (GRCm39)	H1100R	probably benign	Het
Vezt	A	T	10: 93,832,957 (GRCm39)	F151L	probably benign	Het
Vps35l	A	G	7: 118,396,234 (GRCm39)	T538A	possibly damaging	Het
Zc3h3	G	T	15: 75,651,380 (GRCm39)	C638*	probably null	Het
Zfp128	C	T	7: 12,618,654 (GRCm39)	R51C	probably damaging	Het
Zfp141	T	G	7: 42,125,855 (GRCm39)	I206L	possibly damaging	Het
Zfp369	G	T	13: 65,443,494 (GRCm39)	K324N	probably benign	Het

Other mutations in Kcnk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Kcnk4	APN	19	6,904,545 (GRCm39)	missense	probably damaging	1.00
IGL02047:Kcnk4	APN	19	6,903,626 (GRCm39)	missense	probably benign	0.00
IGL02726:Kcnk4	APN	19	6,904,457 (GRCm39)	critical splice donor site	probably null
R0149:Kcnk4	UTSW	19	6,903,562 (GRCm39)	missense	probably benign	0.08
R0617:Kcnk4	UTSW	19	6,905,528 (GRCm39)	unclassified	probably benign
R1392:Kcnk4	UTSW	19	6,905,031 (GRCm39)	missense	possibly damaging	0.80
R1392:Kcnk4	UTSW	19	6,905,031 (GRCm39)	missense	possibly damaging	0.80
R3017:Kcnk4	UTSW	19	6,905,162 (GRCm39)	missense	probably damaging	0.96
R4439:Kcnk4	UTSW	19	6,910,129 (GRCm39)	missense	probably benign	0.01
R4895:Kcnk4	UTSW	19	6,905,784 (GRCm39)	splice site	probably null
R5208:Kcnk4	UTSW	19	6,905,069 (GRCm39)	missense	possibly damaging	0.79
R5409:Kcnk4	UTSW	19	6,903,578 (GRCm39)	missense	probably benign	0.00
R6233:Kcnk4	UTSW	19	6,905,697 (GRCm39)	missense	probably benign	0.29
R6466:Kcnk4	UTSW	19	6,905,665 (GRCm39)	missense	probably damaging	1.00
R7358:Kcnk4	UTSW	19	6,903,478 (GRCm39)	missense	probably damaging	1.00
R8040:Kcnk4	UTSW	19	6,904,995 (GRCm39)	missense	probably damaging	1.00
R8356:Kcnk4	UTSW	19	6,903,668 (GRCm39)	missense	probably benign
R8437:Kcnk4	UTSW	19	6,903,602 (GRCm39)	missense	probably benign	0.01
R8444:Kcnk4	UTSW	19	6,903,508 (GRCm39)	missense	probably damaging	1.00
R8805:Kcnk4	UTSW	19	6,905,379 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGAAATTCTAAGTGCCACCTGGT -3'
(R):5'- ACAGTGAGGGAGACATCTCA -3'

Sequencing Primer
(F):5'- GTGCCACCTGGTACCCC -3'
(R):5'- CAGTGAGGGAGACATCTCAAAAAC -3'

Posted On

2016-11-21