Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Kcnj4'

298068

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnj4

Ensembl Gene

ENSMUSG00000044216

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 4

Synonyms

IRK3, Kcnf2, Kir 2.3, MB-IRK3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

79367915-79389442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79369103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 292 (M292I)

Ref Sequence

ENSEMBL: ENSMUSP00000094075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057801]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057801
AA Change: M292I

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: M292I

Domain	Start	End	E-Value	Type
Pfam:IRK	22	361	2.1e-155	PFAM
coiled coil region	371	400	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229365

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,796,618 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,975,068 (GRCm39)	I109V	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Adamts18	C	A	8: 114,425,704 (GRCm39)	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,666,926 (GRCm39)	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,370,802 (GRCm39)	T694A	probably damaging	Het
Adgra2	G	A	8: 27,609,250 (GRCm39)	V609I	probably benign	Het
Agbl3	A	G	6: 34,800,006 (GRCm39)	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,505,822 (GRCm39)	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,554,599 (GRCm39)	I245N	probably damaging	Het
Aqp9	A	G	9: 71,039,922 (GRCm39)	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,579,553 (GRCm39)	E465G	probably damaging	Het
Btrc	G	T	19: 45,411,573 (GRCm39)	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,121,539 (GRCm39)	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,102,912 (GRCm39)	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686 (GRCm39)	S25P	probably benign	Het
Dnajc6	T	A	4: 101,496,550 (GRCm39)	W838R	probably damaging	Het
Fam78a	T	A	2: 31,959,568 (GRCm39)	T181S	probably damaging	Het
Fat1	A	G	8: 45,504,435 (GRCm39)	T4600A	probably damaging	Het
Fbxo31	A	T	8: 122,293,083 (GRCm39)	Y101N	probably damaging	Het
Glmp	A	G	3: 88,232,389 (GRCm39)	M1V	probably null	Het
Gsdmc	T	A	15: 63,673,782 (GRCm39)	T168S	probably benign	Het
Has1	C	T	17: 18,068,560 (GRCm39)	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,344,823 (GRCm39)	D4670G	possibly damaging	Het
Kmo	A	T	1: 175,465,485 (GRCm39)	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,961,414 (GRCm39)	T608I	possibly damaging	Het
Mical2	A	T	7: 111,923,197 (GRCm39)	N635I	probably benign	Het
Nags	T	C	11: 102,038,767 (GRCm39)	S403P	probably damaging	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Ncan	A	T	8: 70,555,112 (GRCm39)	N1018K	probably damaging	Het
Notch3	T	A	17: 32,373,705 (GRCm39)		probably benign	Het
Nup93	C	T	8: 94,954,461 (GRCm39)	Q53*	probably null	Het
Pdk2	T	A	11: 94,919,412 (GRCm39)	M288L	probably benign	Het
Pkd1	A	G	17: 24,792,789 (GRCm39)	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,239,692 (GRCm39)	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,183,294 (GRCm39)	D511V	possibly damaging	Het
Plin2	C	A	4: 86,576,929 (GRCm39)	M265I	probably benign	Het
Ppp6c	A	T	2: 39,096,669 (GRCm39)	F78I	probably damaging	Het
Prop1	A	T	11: 50,841,773 (GRCm39)	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,988,828 (GRCm39)	E222D	probably damaging	Het
Rtkn	A	T	6: 83,128,905 (GRCm39)	I454F	probably damaging	Het
Serinc2	T	C	4: 130,154,567 (GRCm39)	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,266,493 (GRCm39)	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,240,136 (GRCm39)		probably benign	Het
Spg7	G	A	8: 123,803,717 (GRCm39)	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916 (GRCm39)	D40G	probably benign	Het
Tmcc2	A	G	1: 132,285,317 (GRCm39)	L683P	probably damaging	Het
Triobp	T	C	15: 78,857,689 (GRCm39)	S1097P	probably benign	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Ttll6	T	C	11: 96,045,526 (GRCm39)	I581T	probably benign	Het
Usp29	A	G	7: 6,966,352 (GRCm39)		probably null	Het
Vgll4	A	G	6: 114,839,254 (GRCm39)	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,003,100 (GRCm39)	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,437,930 (GRCm39)	T185A	probably benign	Het
Vwce	A	G	19: 10,622,400 (GRCm39)	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462 (GRCm39)	E2194G	possibly damaging	Het

Other mutations in Kcnj4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Kcnj4	APN	15	79,368,780 (GRCm39)	missense	probably benign	0.01
IGL02263:Kcnj4	APN	15	79,369,988 (GRCm39)	utr 5 prime	probably benign
R1305:Kcnj4	UTSW	15	79,369,020 (GRCm39)	missense	probably damaging	1.00
R1464:Kcnj4	UTSW	15	79,369,605 (GRCm39)	missense	probably damaging	1.00
R1464:Kcnj4	UTSW	15	79,369,605 (GRCm39)	missense	probably damaging	1.00
R1475:Kcnj4	UTSW	15	79,368,831 (GRCm39)	missense	probably damaging	1.00
R1844:Kcnj4	UTSW	15	79,369,216 (GRCm39)	missense	probably damaging	1.00
R3906:Kcnj4	UTSW	15	79,369,946 (GRCm39)	missense	probably benign	0.01
R3907:Kcnj4	UTSW	15	79,369,946 (GRCm39)	missense	probably benign	0.01
R3908:Kcnj4	UTSW	15	79,369,946 (GRCm39)	missense	probably benign	0.01
R4396:Kcnj4	UTSW	15	79,368,874 (GRCm39)	missense	probably benign	0.06
R7598:Kcnj4	UTSW	15	79,369,965 (GRCm39)	missense	probably benign	0.00
R8059:Kcnj4	UTSW	15	79,369,003 (GRCm39)	missense	probably benign
R8371:Kcnj4	UTSW	15	79,369,342 (GRCm39)	missense	probably damaging	1.00
R8818:Kcnj4	UTSW	15	79,369,920 (GRCm39)	missense	probably damaging	1.00
R9664:Kcnj4	UTSW	15	79,369,220 (GRCm39)	missense	possibly damaging	0.95
X0062:Kcnj4	UTSW	15	79,369,891 (GRCm39)	missense	probably benign	0.06
Z1177:Kcnj4	UTSW	15	79,369,370 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16