Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Kcnj8'

587208

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

045712-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142564837-142571614 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142566339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 181 (T181A)

Ref Sequence

ENSEMBL: ENSMUSP00000145440 (fasta)

Gene Model

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

AlphaFold

P97794

Predicted Effect

probably benign
Transcript: ENSMUST00000032374

SMART Domains

Protein: ENSMUSP00000032374
Gene: ENSMUSG00000030247

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: T181A

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

SMART Domains

Protein: ENSMUSP00000145440
Gene: ENSMUSG00000030247
AA Change: T181A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,792,087 (GRCm38)	T131A	probably damaging	Het
Asah1	A	T	8: 41,374,541 (GRCm38)	V15D	probably benign	Het
Asic1	A	C	15: 99,695,590 (GRCm38)	Q276P	probably damaging	Het
Atl2	A	T	17: 79,865,067 (GRCm38)	V158E	probably benign	Het
Atrn	T	A	2: 130,980,114 (GRCm38)	I909N	probably damaging	Het
BC034090	A	G	1: 155,217,486 (GRCm38)	V742A	probably damaging	Het
Capzb	T	A	4: 139,262,023 (GRCm38)	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,941,279 (GRCm38)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,404,106 (GRCm38)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,549,541 (GRCm38)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,201,056 (GRCm38)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,196,388 (GRCm38)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,955,896 (GRCm38)	I361V	probably benign	Het
Dchs2	A	G	3: 83,304,515 (GRCm38)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,483,135 (GRCm38)	K679Q	probably damaging	Het
Dio2	A	G	12: 90,729,560 (GRCm38)	V218A	probably benign	Het
Fam208b	T	C	13: 3,568,849 (GRCm38)	K2251E	possibly damaging	Het
Gm3286	A	G	5: 95,521,411 (GRCm38)	T100A	probably damaging	Het
Gpr107	A	T	2: 31,168,826 (GRCm38)	K109N	probably benign	Het
Gpr108	C	T	17: 57,236,732 (GRCm38)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,704,290 (GRCm38)	V932A	probably damaging	Het
Kdm3b	A	G	18: 34,797,027 (GRCm38)		probably null	Het
Lipc	A	G	9: 70,818,924 (GRCm38)	Y168H	probably damaging	Het
Lipi	C	T	16: 75,550,215 (GRCm38)	V439M	probably benign	Het
Lpp	A	T	16: 24,762,279 (GRCm38)		probably null	Het
Lrp1b	T	G	2: 40,730,717 (GRCm38)	D3583A		Het
Ltbr	T	C	6: 125,312,352 (GRCm38)	T165A	probably benign	Het
Mroh3	A	G	1: 136,190,998 (GRCm38)	I527T	probably benign	Het
Mylk	A	G	16: 34,922,517 (GRCm38)	E1133G	probably benign	Het
Nat3	T	C	8: 67,547,574 (GRCm38)	I35T	probably damaging	Het
Ncbp3	T	C	11: 73,066,765 (GRCm38)		probably null	Het
Nedd1	G	A	10: 92,698,730 (GRCm38)	T306M	probably benign	Het
Nexn	T	C	3: 152,247,178 (GRCm38)	R316G	probably benign	Het
Nox4	A	G	7: 87,317,302 (GRCm38)	H207R	probably damaging	Het
Nsun6	T	C	2: 15,039,825 (GRCm38)	Q110R	probably benign	Het
Olfr22-ps1	C	T	11: 73,955,184 (GRCm38)	Q165*	probably null	Het
Olfr668	C	T	7: 104,925,056 (GRCm38)	R236H	probably benign	Het
Olfr851	T	A	9: 19,497,522 (GRCm38)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,851,131 (GRCm38)	D905G	probably damaging	Het
Pepd	T	C	7: 34,969,540 (GRCm38)	L195S	probably damaging	Het
Pms1	A	G	1: 53,207,316 (GRCm38)	S355P	probably benign	Het
Pop1	A	T	15: 34,502,413 (GRCm38)	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 95,001,940 (GRCm38)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,626,803 (GRCm38)		probably null	Het
Prss35	T	A	9: 86,755,374 (GRCm38)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,651,151 (GRCm38)	M1K	probably null	Het
Rffl	T	C	11: 82,810,148 (GRCm38)	D284G	probably damaging	Het
Robo3	T	C	9: 37,429,646 (GRCm38)	D110G	probably damaging	Het
Rtel1	G	A	2: 181,322,315 (GRCm38)	V36M	probably damaging	Het
Slc1a7	T	A	4: 108,010,486 (GRCm38)	I457K	possibly damaging	Het
Smco1	A	G	16: 32,273,723 (GRCm38)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,227,902 (GRCm38)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,219 (GRCm38)	I356F	probably damaging	Het
Stk24	C	T	14: 121,302,287 (GRCm38)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,476,767 (GRCm38)	I156V	probably benign	Het
Tbce	C	T	13: 14,019,742 (GRCm38)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,882,947 (GRCm38)	L92P	probably damaging	Het
Tnr	T	A	1: 159,886,208 (GRCm38)	D735E	probably benign	Het
Tram1	T	C	1: 13,579,547 (GRCm38)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157 (GRCm38)		probably null	Het
Unc5b	C	T	10: 60,783,120 (GRCm38)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,703,789 (GRCm38)	T1041M	probably benign	Het

Other mutations in Kcnj8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Kcnj8	APN	6	142,570,235 (GRCm38)	missense	probably damaging	1.00
IGL02303:Kcnj8	APN	6	142,570,111 (GRCm38)	missense	probably benign	0.01
IGL03026:Kcnj8	APN	6	142,566,473 (GRCm38)	critical splice acceptor site	probably null
goodnight	UTSW	6	0 ()	large deletion
mayday	UTSW	6	0 ()	large deletion
slumber	UTSW	6	0 ()	large deletion
solitaire	UTSW	6	0 ()	large deletion
sos	UTSW	6	142,565,927 (GRCm38)	missense	probably damaging	1.00
R0278:Kcnj8	UTSW	6	142,570,348 (GRCm38)	missense	probably benign	0.12
R0927:Kcnj8	UTSW	6	142,565,901 (GRCm38)	missense	possibly damaging	0.82
R1680:Kcnj8	UTSW	6	142,570,189 (GRCm38)	nonsense	probably null
R1864:Kcnj8	UTSW	6	142,570,240 (GRCm38)	missense	probably damaging	1.00
R1865:Kcnj8	UTSW	6	142,570,240 (GRCm38)	missense	probably damaging	1.00
R2087:Kcnj8	UTSW	6	142,565,696 (GRCm38)	missense	probably benign	0.02
R4900:Kcnj8	UTSW	6	142,566,495 (GRCm38)	missense	probably damaging	1.00
R5863:Kcnj8	UTSW	6	142,565,688 (GRCm38)	missense	probably benign	0.02
R6493:Kcnj8	UTSW	6	142,566,047 (GRCm38)	missense	probably damaging	1.00
R6598:Kcnj8	UTSW	6	142,570,233 (GRCm38)	missense	probably damaging	1.00
R7068:Kcnj8	UTSW	6	142,566,239 (GRCm38)	missense	probably damaging	1.00
R7698:Kcnj8	UTSW	6	142,565,753 (GRCm38)	missense	probably damaging	1.00
R7908:Kcnj8	UTSW	6	142,566,029 (GRCm38)	missense	probably benign	0.44
R9199:Kcnj8	UTSW	6	142,566,392 (GRCm38)	missense	probably damaging	1.00
R9757:Kcnj8	UTSW	6	142,570,079 (GRCm38)	missense	probably benign	0.00
X0018:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17
X0020:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17
X0026:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17
X0027:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17
X0061:Kcnj8	UTSW	6	142,570,120 (GRCm38)	missense	probably damaging	1.00
X0065:Kcnj8	UTSW	6	142,565,914 (GRCm38)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTGCTGATGAATAGGCACCAC -3'
(R):5'- CGCTGACCTGACATCATTTCTG -3'

Sequencing Primer
(F):5'- GCACCACCTCCCCTTCTGG -3'
(R):5'- GATATTGGTCCTTACAGGTCATTCAC -3'

Posted On

2019-10-24