Mutagenetix > Incidental Mutations

Incidental Mutation 'R1864:Kcnj8'

208491

Institutional Source

Beutler Lab

Gene Symbol

Kcnj8

Ensembl Gene

ENSMUSG00000030247

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 8

Synonyms

Kir6.1, sltr, gnite, slmbr

MMRRC Submission

039887-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142564837-142571614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142570240 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 47 (H47L)

Ref Sequence

ENSEMBL: ENSMUSP00000145440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032374] [ENSMUST00000203945]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032374
AA Change: H47L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032374
Gene: ENSMUSG00000030247
AA Change: H47L

Domain	Start	End	E-Value	Type
Pfam:IRK	37	371	2.3e-141	PFAM
low complexity region	378	404	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203945
AA Change: H47L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: H47L

Domain	Start	End	E-Value	Type
Pfam:IRK	37	371	2.3e-141	PFAM
low complexity region	378	404	N/A	INTRINSIC

Meta Mutation Damage Score

0.4421

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit sudden cardiac death due to dysregulation of the vascular tonus in the coronary arteries, and exhibit a phenotype resembling Prinzmetal (or variant) angina in humans. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	G	A	X: 160,482,351	M532I	probably benign	Het
Agtpbp1	A	G	13: 59,450,202	Y1198H	possibly damaging	Het
Ahcyl2	G	A	6: 29,908,355	V575M	probably damaging	Het
AI314180	T	A	4: 58,849,942	H427L	possibly damaging	Het
Akp3	TCACCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCACCAC	1: 87,127,767		probably benign	Het
Ankrd50	A	T	3: 38,454,461	N329K	probably benign	Het
Ano4	C	A	10: 88,971,391	G741V	probably damaging	Het
Anxa1	T	C	19: 20,379,689	D191G	probably benign	Het
Apc2	C	T	10: 80,313,648	T1512I	probably damaging	Het
Aph1b	A	T	9: 66,794,113	C81S	probably benign	Het
Arhgap21	T	C	2: 20,861,204	E893G	probably damaging	Het
Arhgef28	A	T	13: 97,994,132	H399Q	probably benign	Het
Asic5	A	G	3: 82,011,987	E304G	probably benign	Het
B4galnt4	A	G	7: 141,070,533	Y771C	probably damaging	Het
Birc2	G	T	9: 7,819,517	Q465K	probably benign	Het
Btla	C	T	16: 45,250,374	T232I	probably damaging	Het
Ccdc84	A	G	9: 44,417,721	C66R	probably damaging	Het
Ccl7	G	T	11: 82,046,552	K37N	probably benign	Het
Cdk17	T	C	10: 93,226,105	V233A	probably damaging	Het
Cilp2	C	A	8: 69,881,323	Q1008H	probably damaging	Het
Clcn1	T	A	6: 42,305,541	D442E	probably damaging	Het
Clcnka	T	C	4: 141,392,802	T269A	probably damaging	Het
Col12a1	A	T	9: 79,627,103		probably null	Het
Cts6	A	G	13: 61,201,579	I105T	probably benign	Het
Cyp3a25	T	C	5: 145,994,929	D123G	probably damaging	Het
D630003M21Rik	A	T	2: 158,203,185	L808Q	probably damaging	Het
Ddrgk1	A	T	2: 130,654,295	I270N	probably damaging	Het
Dhx15	T	C	5: 52,184,701	T92A	possibly damaging	Het
Dhx32	A	T	7: 133,737,296	C197S	probably benign	Het
Diaph2	G	A	X: 129,960,127	R473Q	probably damaging	Het
Dnd1	A	G	18: 36,766,004	C11R	possibly damaging	Het
Dock1	A	C	7: 135,146,507	D1566A	probably benign	Het
Drp2	A	G	X: 134,427,115	I43V	probably benign	Het
Ecm2	T	C	13: 49,530,145	V533A	probably benign	Het
Emilin1	A	G	5: 30,918,590	E725G	probably damaging	Het
Eml2	A	G	7: 19,201,878	Y487C	probably damaging	Het
Epg5	T	A	18: 77,975,031	L919H	probably damaging	Het
Fam187a	T	A	11: 102,886,011	S214T	probably damaging	Het
Flna	T	C	X: 74,240,263	T521A	probably benign	Het
Foxi1	T	A	11: 34,207,531	I165F	probably damaging	Het
Fxr2	A	T	11: 69,652,277	K633N	probably benign	Het
Gdpd5	T	C	7: 99,448,999	I209T	probably benign	Het
Gm13212	A	T	4: 145,622,428	Q145L	possibly damaging	Het
Gmpr	G	T	13: 45,542,625	V278F	probably damaging	Het
Grm7	A	T	6: 111,080,423	D328V	probably benign	Het
Heatr6	T	C	11: 83,769,230	S534P	probably damaging	Het
Heph	A	G	X: 96,529,486	T792A	probably damaging	Het
Hipk2	T	A	6: 38,718,935		probably null	Het
Hps3	T	A	3: 20,019,959		probably null	Het
Hspa5	T	C	2: 34,774,541	F336L	probably damaging	Het
Insc	T	C	7: 114,842,178	I409T	probably benign	Het
Kcnma1	T	A	14: 23,803,162	Q108L	probably damaging	Het
Klc3	A	G	7: 19,398,041	V137A	probably damaging	Het
Lcn2	T	C	2: 32,385,422	T194A	possibly damaging	Het
Lgr4	T	A	2: 110,011,397	F576I	possibly damaging	Het
Lypd6b	A	G	2: 49,947,447	I144V	possibly damaging	Het
Mctp1	G	A	13: 76,385,148	C205Y	possibly damaging	Het
Mitf	A	T	6: 98,010,422	N159I	probably damaging	Het
Morc1	T	C	16: 48,592,530	I678T	probably benign	Het
Muc4	A	G	16: 32,756,251		probably benign	Het
Myo7a	T	C	7: 98,052,256	Y2115C	probably damaging	Het
Myof	T	C	19: 37,986,705	I182V	probably benign	Het
Ncor1	A	G	11: 62,381,419	V635A	probably damaging	Het
Neb	G	T	2: 52,212,760	Y4257*	probably null	Het
Npr2	T	A	4: 43,641,258	V428E	probably benign	Het
Nufip2	A	G	11: 77,692,298	D346G	probably damaging	Het
Obsl1	G	A	1: 75,493,109	S1088F	probably benign	Het
Olfr1262	T	A	2: 90,002,481	V25E	probably benign	Het
Olfr1282	C	T	2: 111,335,707	V124M	possibly damaging	Het
Olfr204	A	G	16: 59,315,015	Y131H	probably damaging	Het
Olfr705	T	C	7: 106,713,823	N286S	possibly damaging	Het
Olfr877	T	A	9: 37,855,264	Y149N	probably damaging	Het
Olfr982	T	G	9: 40,074,785	I163M	possibly damaging	Het
Pdgfrb	G	A	18: 61,071,717	V550I	probably benign	Het
Pi4ka	A	T	16: 17,367,525	L237*	probably null	Het
Pla2r1	G	A	2: 60,428,711	T1111M	probably benign	Het
Plxnd1	A	T	6: 115,969,441		probably null	Het
Pnp	G	C	14: 50,947,973	A67P	probably benign	Het
Ppp1r3a	A	T	6: 14,718,405	S837T	probably damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prom2	T	C	2: 127,539,787	D203G	probably benign	Het
Pum1	T	C	4: 130,751,525	V486A	possibly damaging	Het
Rnf115	A	G	3: 96,727,837		probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rusc2	C	A	4: 43,421,719	A713D	possibly damaging	Het
Ryr3	A	T	2: 112,730,328	H3009Q	possibly damaging	Het
Serpina1d	C	A	12: 103,767,997	C16F	probably benign	Het
Serpinf2	G	T	11: 75,437,483	R80S	possibly damaging	Het
Sh2d4a	C	A	8: 68,329,315	Q192K	probably benign	Het
Sh3d21	T	A	4: 126,150,936		probably null	Het
Sh3rf2	T	A	18: 42,053,981	L55Q	probably damaging	Het
Shc4	T	C	2: 125,639,367	D255G	probably damaging	Het
Skint2	T	A	4: 112,625,909	H170Q	probably benign	Het
Slc29a4	A	G	5: 142,717,754	Y261C	probably damaging	Het
Slc35a5	A	T	16: 45,143,708	N102K	possibly damaging	Het
Slc38a3	A	T	9: 107,655,953	I307K	probably damaging	Het
Sv2b	A	T	7: 75,124,080	S548T	probably benign	Het
Tgfbi	T	C	13: 56,632,881	S524P	probably benign	Het
Tgm5	T	C	2: 121,075,218	D152G	probably damaging	Het
Tmem213	A	G	6: 38,109,552	T48A	possibly damaging	Het
Tmem37	A	G	1: 120,068,222	S42P	probably damaging	Het
Trpm1	A	G	7: 64,268,016	K1258R	probably damaging	Het
Ttc22	T	C	4: 106,636,806	V321A	probably benign	Het
Ube2c	C	A	2: 164,770,023	A15E	probably benign	Het
Ubn2	T	A	6: 38,440,490	D154E	possibly damaging	Het
Umod	A	T	7: 119,463,255	L631M	probably damaging	Het
Ush1c	G	A	7: 46,219,392	Q373*	probably null	Het
Vmn1r238	T	A	18: 3,123,040	R125*	probably null	Het
Wnt8b	T	C	19: 44,493,590	L14P	probably benign	Het
Wrn	G	A	8: 33,288,864	A563V	probably damaging	Het
Zfp608	A	G	18: 54,897,911	S986P	probably benign	Het
Znrf3	T	C	11: 5,283,373	H228R	possibly damaging	Het

Other mutations in Kcnj8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Kcnj8	APN	6	142570235	missense	probably damaging	1.00
IGL02303:Kcnj8	APN	6	142570111	missense	probably benign	0.01
IGL03026:Kcnj8	APN	6	142566473	critical splice acceptor site	probably null
goodnight	UTSW	6		large deletion
mayday	UTSW	6		large deletion
slumber	UTSW	6		large deletion
solitaire	UTSW	6		large deletion
sos	UTSW	6	142565927	missense	probably damaging	1.00
R0278:Kcnj8	UTSW	6	142570348	missense	probably benign	0.12
R0927:Kcnj8	UTSW	6	142565901	missense	possibly damaging	0.82
R1680:Kcnj8	UTSW	6	142570189	nonsense	probably null
R1865:Kcnj8	UTSW	6	142570240	missense	probably damaging	1.00
R2087:Kcnj8	UTSW	6	142565696	missense	probably benign	0.02
R4900:Kcnj8	UTSW	6	142566495	missense	probably damaging	1.00
R5863:Kcnj8	UTSW	6	142565688	missense	probably benign	0.02
R6493:Kcnj8	UTSW	6	142566047	missense	probably damaging	1.00
R6598:Kcnj8	UTSW	6	142570233	missense	probably damaging	1.00
R7068:Kcnj8	UTSW	6	142566239	missense	probably damaging	1.00
R7587:Kcnj8	UTSW	6	142566339	missense	probably damaging	1.00
R7698:Kcnj8	UTSW	6	142565753	missense	probably damaging	1.00
X0018:Kcnj8	UTSW	6	142565914	missense	probably benign	0.17
X0020:Kcnj8	UTSW	6	142565914	missense	probably benign	0.17
X0026:Kcnj8	UTSW	6	142565914	missense	probably benign	0.17
X0027:Kcnj8	UTSW	6	142565914	missense	probably benign	0.17
X0061:Kcnj8	UTSW	6	142570120	missense	probably damaging	1.00
X0065:Kcnj8	UTSW	6	142565914	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TGTAAGCATAGATGTCCCCGTG -3'
(R):5'- AGCGTTTCTCTAGTCTAGGAGGAC -3'

Sequencing Primer
(F):5'- ATGTCCCCGTGGGCGAAG -3'
(R):5'- CTCTAGTCTAGGAGGACGCGTG -3'

Posted On

2014-06-30