Mutagenetix > Incidental Mutation

Incidental Mutation 'R5393:Kcnk18'

425995

Institutional Source

Beutler Lab

Gene Symbol

Kcnk18

Ensembl Gene

ENSMUSG00000040901

Gene Name

potassium channel, subfamily K, member 18

Synonyms

LOC332396, Tresk, Tresk-2

MMRRC Submission

042965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5393 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

59219648-59237370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59219839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 36 (C36R)

Ref Sequence

ENSEMBL: ENSMUSP00000065713 (fasta)

Gene Model

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

AlphaFold

Q6VV64

Predicted Effect

probably damaging
Transcript: ENSMUST00000065204
AA Change: C36R

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

SMART Domains

Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: C36R

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

Meta Mutation Damage Score

0.7214

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (72/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	A	T	16: 89,063,765	Y60*	probably null	Het
2810403A07Rik	T	A	3: 88,696,606	H243Q	probably benign	Het
Abca6	T	A	11: 110,244,295	E221D	probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adi1	A	G	12: 28,675,275	D8G	probably benign	Het
Adnp	T	C	2: 168,182,949	K809E	possibly damaging	Het
Aldh18a1	T	C	19: 40,585,567	H4R	probably benign	Het
Atp6v0a1	T	C	11: 101,038,807	S485P	possibly damaging	Het
C1galt1	T	C	6: 7,864,143		probably null	Het
Cacna2d4	A	T	6: 119,239,054	N94I	probably benign	Het
Catsperg1	T	C	7: 29,185,499	N899S	probably damaging	Het
Coro2a	A	G	4: 46,542,255	S373P	probably damaging	Het
Cpsf6	G	C	10: 117,362,016		probably benign	Het
Csmd3	A	T	15: 47,633,703	N3099K	probably damaging	Het
Ctla2b	T	A	13: 60,896,132	E74D	probably damaging	Het
Dnah2	T	A	11: 69,500,857	T671S	probably benign	Het
Drd5	T	A	5: 38,320,905	S414T	probably benign	Het
Dyrk2	C	T	10: 118,859,848	D502N	probably damaging	Het
Ecel1	A	T	1: 87,152,876	L376Q	possibly damaging	Het
Efcab8	G	A	2: 153,780,983	R24Q	unknown	Het
Eloc	A	C	1: 16,647,968		probably benign	Het
Ep300	A	G	15: 81,631,618		probably benign	Het
Fam89b	T	C	19: 5,728,705	D152G	probably damaging	Het
Gm15455	G	A	1: 33,836,846		noncoding transcript	Het
Greb1l	A	G	18: 10,458,312	T30A	probably benign	Het
Hdac10	T	C	15: 89,126,684	Y238C	probably damaging	Het
Ick	A	G	9: 78,160,715	T463A	probably benign	Het
Ighv2-5	T	C	12: 113,685,882	T12A	possibly damaging	Het
Insrr	T	C	3: 87,810,700		probably null	Het
Irf9	T	C	14: 55,606,457		probably benign	Het
Itpr2	A	T	6: 146,376,155	C280*	probably null	Het
Klhl14	G	T	18: 21,651,994	N125K	probably benign	Het
Lce1i	T	C	3: 92,777,735	S45G	unknown	Het
Lrmda	A	C	14: 22,027,306	D37A	probably damaging	Het
Marco	A	C	1: 120,485,854	D280E	probably damaging	Het
Miox	C	T	15: 89,336,247	Q180*	probably null	Het
Npdc1	A	T	2: 25,408,670	M265L	probably damaging	Het
Nudcd3	T	C	11: 6,113,274	K205R	probably damaging	Het
Olfr319	T	A	11: 58,702,500	H266Q	probably damaging	Het
Olfr325	C	G	11: 58,580,999	L52V	possibly damaging	Het
Pcdhga5	C	T	18: 37,696,667	R723C	probably benign	Het
Pdlim5	T	A	3: 142,259,186	E295D	probably damaging	Het
Poli	C	A	18: 70,517,428	E314*	probably null	Het
Ptpro	A	G	6: 137,380,224	N238D	probably benign	Het
R3hdm1	A	G	1: 128,231,347	I920V	probably benign	Het
Ralgapa2	C	T	2: 146,345,455	V1338M	probably damaging	Het
Saa3	T	C	7: 46,712,661	Y53C	probably damaging	Het
Sept14	T	A	5: 129,683,586	E398D	probably benign	Het
Six3	T	C	17: 85,623,842	S309P	possibly damaging	Het
Slc7a14	A	G	3: 31,257,770	S34P	probably damaging	Het
Smarca2	C	A	19: 26,640,429	Q287K	probably benign	Het
Stard9	C	T	2: 120,702,906	L522F	possibly damaging	Het
Sycp1	T	C	3: 102,841,047		probably null	Het
Tbc1d8	A	T	1: 39,426,088	V73E	probably damaging	Het
Tldc1	T	C	8: 119,772,418	I112V	probably benign	Het
Tmem120a	T	C	5: 135,736,250		probably null	Het
Tsc2	T	C	17: 24,600,396	E1251G	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnt5b	A	C	6: 119,440,433	L157R	probably damaging	Het
Zbtb24	T	A	10: 41,464,582	V536E	probably damaging	Het
Zfp593	G	A	4: 134,245,304	A67V	probably benign	Het
Zfp995	A	T	17: 21,880,492	F254I	probably benign	Het

Other mutations in Kcnk18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Kcnk18	APN	19	59235070	missense	probably benign	0.23
IGL01460:Kcnk18	APN	19	59219857	missense	probably damaging	1.00
IGL02054:Kcnk18	APN	19	59235613	utr 3 prime	probably benign
IGL02304:Kcnk18	APN	19	59234863	missense	probably damaging	1.00
IGL02499:Kcnk18	APN	19	59235182	missense	probably benign	0.10
IGL02527:Kcnk18	APN	19	59235275	missense	probably damaging	0.99
IGL03033:Kcnk18	APN	19	59235184	missense	probably benign	0.21
cedar	UTSW	19	59235341	missense	probably damaging	1.00
R1552:Kcnk18	UTSW	19	59235458	missense	probably damaging	0.99
R1775:Kcnk18	UTSW	19	59235341	missense	probably damaging	1.00
R1913:Kcnk18	UTSW	19	59235058	missense	possibly damaging	0.54
R2278:Kcnk18	UTSW	19	59235494	missense	probably damaging	1.00
R3036:Kcnk18	UTSW	19	59235062	missense	probably benign	0.38
R4478:Kcnk18	UTSW	19	59235244	missense	probably damaging	1.00
R4494:Kcnk18	UTSW	19	59234831	missense	probably damaging	1.00
R4827:Kcnk18	UTSW	19	59219930	missense	probably damaging	0.97
R6077:Kcnk18	UTSW	19	59235314	missense	probably damaging	0.98
R6145:Kcnk18	UTSW	19	59235607	makesense	probably null
R6881:Kcnk18	UTSW	19	59219958	missense	probably benign
R9641:Kcnk18	UTSW	19	59234834	missense	probably damaging	1.00
Z1176:Kcnk18	UTSW	19	59234959	missense	probably benign	0.39
Z1177:Kcnk18	UTSW	19	59225479	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACCATCCACTTAAGGCTGGAG -3'
(R):5'- TGTTATAGGCAAGCTGCTCAC -3'

Sequencing Primer
(F):5'- TGGAGCCTGGCCATTCTC -3'
(R):5'- ACCTCCGAGGCAGTAACG -3'

Posted On

2016-08-04