Mutagenetix > Incidental Mutation

Incidental Mutation 'R7358:Kcnk4'

571150

Institutional Source

Beutler Lab

Gene Symbol

Kcnk4

Ensembl Gene

ENSMUSG00000024957

Gene Name

potassium channel, subfamily K, member 4

Synonyms

TRAAKt

MMRRC Submission

045444-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6903030-6912261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6903478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 357 (D357V)

Ref Sequence

ENSEMBL: ENSMUSP00000025908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025906] [ENSMUST00000025908] [ENSMUST00000057716] [ENSMUST00000173635]

AlphaFold

O88454

Predicted Effect

probably benign
Transcript: ENSMUST00000025906

SMART Domains

Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
internal_repeat_1	5	21	6.74e-5	PROSPERO
low complexity region	52	67	N/A	INTRINSIC
ZnF_C4	76	147	2.16e-40	SMART
low complexity region	169	187	N/A	INTRINSIC
internal_repeat_1	202	218	6.74e-5	PROSPERO
HOLI	229	391	9.21e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000025908
AA Change: D357V

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

SMART Domains

Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
AA Change: D357V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173635

SMART Domains

Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
PDB:1LO1\|A	1	21	6e-7	PDB
low complexity region	26	44	N/A	INTRINSIC
Pfam:Hormone_recep	65	158	4.7e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,510,529 (GRCm39)	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,564,962 (GRCm39)	D9V	probably benign	Het
Ahcyl	T	C	16: 45,974,201 (GRCm39)	E392G	probably damaging	Het
Ankrd13c	T	A	3: 157,697,374 (GRCm39)	Y326*	probably null	Het
Ano2	A	G	6: 125,687,696 (GRCm39)	D67G	probably benign	Het
Arhgef5	G	A	6: 43,256,507 (GRCm39)	R1205H	probably damaging	Het
Ascc3	T	A	10: 50,590,448 (GRCm39)	Y1055*	probably null	Het
Atad5	C	T	11: 80,023,862 (GRCm39)	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 91,031,926 (GRCm39)	D252G	probably damaging	Het
Bdkrb2	T	C	12: 105,558,800 (GRCm39)	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,146,007 (GRCm39)	L1194Q	probably damaging	Het
Chd9	A	C	8: 91,710,115 (GRCm39)	D770A	unknown	Het
Chd9	A	G	8: 91,760,846 (GRCm39)	D2197G	unknown	Het
Clip2	C	A	5: 134,531,484 (GRCm39)	E774*	probably null	Het
Clspn	A	G	4: 126,459,993 (GRCm39)	T407A	probably benign	Het
Col24a1	T	A	3: 144,998,926 (GRCm39)		probably null	Het
Cradd	T	A	10: 95,158,637 (GRCm39)	T37S	probably damaging	Het
Cspg4b	A	G	13: 113,456,501 (GRCm39)	D849G		Het
Ctbp2	A	G	7: 132,600,610 (GRCm39)	F70S	probably damaging	Het
D3Ertd751e	A	T	3: 41,701,000 (GRCm39)	E6D	probably damaging	Het
Dst	T	A	1: 34,230,754 (GRCm39)	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479 (GRCm39)		probably null	Het
Eif2s1	G	T	12: 78,927,969 (GRCm39)	G215V	probably damaging	Het
Epg5	A	T	18: 78,002,252 (GRCm39)	D557V	possibly damaging	Het
Eya4	C	T	10: 22,999,749 (GRCm39)		probably null	Het
Fpr1	C	A	17: 18,097,242 (GRCm39)	R249L	probably damaging	Het
Fry	A	G	5: 150,339,788 (GRCm39)	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,580,473 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,104,278 (GRCm39)	L161*	probably null	Het
Gid8	A	T	2: 180,359,779 (GRCm39)	K221I	probably benign	Het
Gm21028	A	C	7: 42,227,913 (GRCm39)	C34G	probably damaging	Het
Greb1	A	G	12: 16,774,882 (GRCm39)	S172P	probably damaging	Het
Herc2	A	G	7: 55,832,423 (GRCm39)	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,306,824 (GRCm39)	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,230,448 (GRCm39)	G229*	probably null	Het
Igfn1	A	T	1: 135,891,738 (GRCm39)	V2259D	probably damaging	Het
Ism2	A	G	12: 87,326,814 (GRCm39)	F375S	probably damaging	Het
Knl1	A	G	2: 118,901,040 (GRCm39)	R914G	possibly damaging	Het
Mars2	T	C	1: 55,276,729 (GRCm39)	S111P	probably damaging	Het
Mogat2	G	A	7: 98,881,673 (GRCm39)	P88S	possibly damaging	Het
Msh2	T	A	17: 88,024,957 (GRCm39)	S612T	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or1j20	T	C	2: 36,759,890 (GRCm39)	V104A	probably benign	Het
Or2d3c	A	T	7: 106,526,111 (GRCm39)	L185Q	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,390 (GRCm39)	L259P	unknown	Het
Or5m11b	T	A	2: 85,805,780 (GRCm39)	S64R	possibly damaging	Het
Or6c202	T	A	10: 128,995,939 (GRCm39)	I305F	probably benign	Het
Or7e174	A	T	9: 20,012,169 (GRCm39)	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,804,205 (GRCm39)		probably null	Het
Pard3	A	T	8: 128,319,573 (GRCm39)	I1149L	probably damaging	Het
Pcdha8	T	A	18: 37,125,830 (GRCm39)	I104N	probably damaging	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pgap2	A	T	7: 101,859,774 (GRCm39)		probably benign	Het
Phf7	T	C	14: 30,963,745 (GRCm39)	R76G	probably benign	Het
Pigu	T	C	2: 155,141,090 (GRCm39)	T268A	probably damaging	Het
Piwil4	T	C	9: 14,641,289 (GRCm39)	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,895,202 (GRCm39)	E636A		Het
Plscr3	T	C	11: 69,738,316 (GRCm39)	S55P	unknown	Het
Pnlip	T	A	19: 58,664,976 (GRCm39)	I268N	probably damaging	Het
Podxl	A	T	6: 31,501,929 (GRCm39)	H343Q	probably benign	Het
Prkcd	T	C	14: 30,327,793 (GRCm39)	T213A	probably benign	Het
Prss22	T	A	17: 24,215,419 (GRCm39)	Q119L	probably benign	Het
Psme3ip1	T	C	8: 95,302,327 (GRCm39)	N235D	possibly damaging	Het
Ptprcap	A	G	19: 4,206,238 (GRCm39)	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198 (GRCm38)	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Rasa4	A	G	5: 136,124,448 (GRCm39)	T166A	probably benign	Het
Sbf2	T	C	7: 109,998,555 (GRCm39)	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,512,850 (GRCm39)	Y203*	probably null	Het
Serpinb1a	G	C	13: 33,026,981 (GRCm39)	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,832,920 (GRCm39)	T464I	probably benign	Het
Slc47a2	G	A	11: 61,199,699 (GRCm39)	A399V	possibly damaging	Het
Snrnp200	A	G	2: 127,063,746 (GRCm39)	T642A	probably benign	Het
Spag16	A	G	1: 69,883,526 (GRCm39)	H85R	probably benign	Het
Spata31h1	A	G	10: 82,127,847 (GRCm39)	L1721S	possibly damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stag3	C	A	5: 138,299,770 (GRCm39)	L894M	probably damaging	Het
Sun2	A	T	15: 79,618,313 (GRCm39)	F284Y	probably benign	Het
Tpx2	T	A	2: 152,718,550 (GRCm39)	N184K	probably benign	Het
Trpa1	A	T	1: 14,968,334 (GRCm39)	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,620,791 (GRCm39)	R157H	probably damaging	Het
Ttn	C	T	2: 76,537,649 (GRCm39)	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,532,427 (GRCm39)	S360P	probably damaging	Het
Uqcc5	A	G	14: 30,846,560 (GRCm39)	V53A	probably damaging	Het
Usp34	T	A	11: 23,311,683 (GRCm39)	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,273,468 (GRCm39)	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,360,482 (GRCm39)	C73*	probably null	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141 (GRCm39)	E214G	unknown	Het
Zmym5	T	A	14: 57,031,597 (GRCm39)	K504*	probably null	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
R5743:Kcnk4	UTSW	19	6,905,723 (GRCm39)	missense	possibly damaging	0.69
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
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'- AAATAAGCCAAGCATGCCTG -3'
(R):5'- TTCCTCTCTGTGCAGATGGG -3'

Sequencing Primer
(F):5'- TGCCTGAGCATCAGCAAG -3'
(R):5'- TGCAGATGGGTGGCCTAAC -3'

Posted On

2019-09-13