Mutagenetix > Incidental Mutation

Incidental Mutation 'R4494:Kcnk18'

330912

Institutional Source

Beutler Lab

Gene Symbol

Kcnk18

Ensembl Gene

ENSMUSG00000040901

Gene Name

potassium channel, subfamily K, member 18

Synonyms

Tresk, Tresk-2, LOC332396

MMRRC Submission

041582-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4494 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59208080-59225802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59223263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 136 (V136A)

Ref Sequence

ENSEMBL: ENSMUSP00000065713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065204]

AlphaFold

Q6VV64

Predicted Effect

probably damaging
Transcript: ENSMUST00000065204
AA Change: V136A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: V136A

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:Ion_trans_2	99	168	1e-21	PFAM
Pfam:Ion_trans_2	298	376	1.4e-14	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit altered potassium conductance and neuron electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7ip	T	A	6: 136,540,747 (GRCm39)		probably null	Het
Cacna1b	T	C	2: 24,542,950 (GRCm39)	T1301A	probably damaging	Het
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Camsap1	T	C	2: 25,842,770 (GRCm39)	D262G	probably damaging	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Ccdc170	T	C	10: 4,464,128 (GRCm39)	Y36H	probably damaging	Het
Cd177	A	T	7: 24,451,428 (GRCm39)	S492T	probably benign	Het
Chrna4	T	A	2: 180,670,281 (GRCm39)	I492F	probably damaging	Het
Cit	T	C	5: 116,012,043 (GRCm39)	Y217H	probably damaging	Het
Cnbd1	T	A	4: 19,098,150 (GRCm39)	D90V	probably benign	Het
Cryba2	A	G	1: 74,929,789 (GRCm39)	F116S	probably damaging	Het
Ctbp1	T	C	5: 33,408,213 (GRCm39)	T240A	possibly damaging	Het
D130043K22Rik	C	T	13: 25,055,339 (GRCm39)	S501L	probably benign	Het
Ddhd2	A	G	8: 26,228,261 (GRCm39)	F553S	probably benign	Het
Ddr2	C	A	1: 169,815,983 (GRCm39)	G575W	probably damaging	Het
Dip2c	T	C	13: 9,621,098 (GRCm39)	V537A	possibly damaging	Het
Dnah12	C	T	14: 26,593,812 (GRCm39)	A752V	probably damaging	Het
Dnah7a	T	C	1: 53,488,197 (GRCm39)	D3260G	probably benign	Het
Efemp2	T	A	19: 5,530,339 (GRCm39)	C309S	probably damaging	Het
Gse1	G	A	8: 121,297,553 (GRCm39)		probably benign	Het
Hspa4l	T	C	3: 40,707,636 (GRCm39)	S53P	possibly damaging	Het
Ighv5-4	T	C	12: 113,561,204 (GRCm39)	D72G	probably benign	Het
Igkv15-103	A	G	6: 68,414,780 (GRCm39)	N73S	probably benign	Het
Igsf11	T	G	16: 38,831,703 (GRCm39)	N183K	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt75	A	T	15: 101,480,136 (GRCm39)	Y240*	probably null	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Man2a2	C	T	7: 80,009,023 (GRCm39)		probably null	Het
Mme	A	G	3: 63,254,613 (GRCm39)	N491S	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msi2	T	C	11: 88,608,185 (GRCm39)	D39G	possibly damaging	Het
Naa60	T	A	16: 3,718,585 (GRCm39)	C122*	probably null	Het
Nes	A	G	3: 87,884,120 (GRCm39)	E793G	probably damaging	Het
Nfkb2	A	G	19: 46,296,878 (GRCm39)	D316G	probably damaging	Het
Nme6	C	T	9: 109,671,122 (GRCm39)	L121F	probably damaging	Het
Or4k47	T	A	2: 111,451,493 (GRCm39)	K309*	probably null	Het
Otud1	C	T	2: 19,664,146 (GRCm39)	T425I	probably damaging	Het
Pimreg	T	C	11: 71,935,964 (GRCm39)	V149A	probably benign	Het
Plbd1	T	C	6: 136,590,856 (GRCm39)	I437V	probably damaging	Het
Prlhr	A	T	19: 60,455,519 (GRCm39)	M349K	probably benign	Het
Slc1a3	G	A	15: 8,668,579 (GRCm39)	T462I	probably damaging	Het
Slc25a26	A	G	6: 94,575,384 (GRCm39)	T198A	probably damaging	Het
Stkld1	A	G	2: 26,836,638 (GRCm39)	N268S	probably benign	Het
Svop	T	C	5: 114,183,688 (GRCm39)	T195A	probably damaging	Het
Syt6	A	G	3: 103,492,946 (GRCm39)	E66G	probably damaging	Het
Tas2r129	A	G	6: 132,928,317 (GRCm39)	I85V	probably benign	Het
Tent5a	A	G	9: 85,207,100 (GRCm39)	S233P	probably damaging	Het
Tprn	T	C	2: 25,158,904 (GRCm39)	S643P	probably damaging	Het
Ush2a	C	T	1: 188,285,473 (GRCm39)	T2003I	possibly damaging	Het
Vmn2r17	T	A	5: 109,576,335 (GRCm39)	V402E	probably damaging	Het
Vmn2r3	C	G	3: 64,182,692 (GRCm39)	G336R	probably damaging	Het
Wdr89	A	T	12: 75,679,521 (GRCm39)	D244E	probably damaging	Het

Other mutations in Kcnk18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Kcnk18	APN	19	59,223,502 (GRCm39)	missense	probably benign	0.23
IGL01460:Kcnk18	APN	19	59,208,289 (GRCm39)	missense	probably damaging	1.00
IGL02054:Kcnk18	APN	19	59,224,045 (GRCm39)	utr 3 prime	probably benign
IGL02304:Kcnk18	APN	19	59,223,295 (GRCm39)	missense	probably damaging	1.00
IGL02499:Kcnk18	APN	19	59,223,614 (GRCm39)	missense	probably benign	0.10
IGL02527:Kcnk18	APN	19	59,223,707 (GRCm39)	missense	probably damaging	0.99
IGL03033:Kcnk18	APN	19	59,223,616 (GRCm39)	missense	probably benign	0.21
cedar	UTSW	19	59,223,773 (GRCm39)	missense	probably damaging	1.00
R1552:Kcnk18	UTSW	19	59,223,890 (GRCm39)	missense	probably damaging	0.99
R1775:Kcnk18	UTSW	19	59,223,773 (GRCm39)	missense	probably damaging	1.00
R1913:Kcnk18	UTSW	19	59,223,490 (GRCm39)	missense	possibly damaging	0.54
R2278:Kcnk18	UTSW	19	59,223,926 (GRCm39)	missense	probably damaging	1.00
R3036:Kcnk18	UTSW	19	59,223,494 (GRCm39)	missense	probably benign	0.38
R4478:Kcnk18	UTSW	19	59,223,676 (GRCm39)	missense	probably damaging	1.00
R4827:Kcnk18	UTSW	19	59,208,362 (GRCm39)	missense	probably damaging	0.97
R5393:Kcnk18	UTSW	19	59,208,271 (GRCm39)	missense	probably damaging	1.00
R6077:Kcnk18	UTSW	19	59,223,746 (GRCm39)	missense	probably damaging	0.98
R6145:Kcnk18	UTSW	19	59,224,039 (GRCm39)	makesense	probably null
R6881:Kcnk18	UTSW	19	59,208,390 (GRCm39)	missense	probably benign
R9641:Kcnk18	UTSW	19	59,223,266 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcnk18	UTSW	19	59,223,391 (GRCm39)	missense	probably benign	0.39
Z1177:Kcnk18	UTSW	19	59,213,911 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACGGTGGGTACTTTGGGATAAAC -3'
(R):5'- GGAGCGCCATTTGAAGATATCG -3'

Sequencing Primer
(F):5'- GGGATTAAACTTGCAGCCTTACGC -3'
(R):5'- CGCCATTTGAAGATATCGTGGGG -3'

Posted On

2015-07-21