Mutagenetix > Incidental Mutation

Incidental Mutation 'R8818:Kcnj4'

672891

Institutional Source

Beutler Lab

Gene Symbol

Kcnj4

Ensembl Gene

ENSMUSG00000044216

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 4

Synonyms

IRK3, Kcnf2, Kir 2.3, MB-IRK3

MMRRC Submission

068651-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79367915-79389442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79369920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 20 (R20L)

Ref Sequence

ENSEMBL: ENSMUSP00000094075 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057801
AA Change: R20L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: R20L

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

Meta Mutation Damage Score

0.9482

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Adam23	T	C	1: 63,584,627 (GRCm39)	V345A	probably damaging	Het
Anxa6	T	G	11: 54,902,578 (GRCm39)	N52T	possibly damaging	Het
Arhgef15	G	A	11: 68,841,938 (GRCm39)	H496Y	probably damaging	Het
Atp2a3	A	G	11: 72,872,765 (GRCm39)	E771G	probably damaging	Het
B3gnt5	A	G	16: 19,588,347 (GRCm39)	T189A	possibly damaging	Het
Becn1	A	T	11: 101,186,230 (GRCm39)	S125T	probably damaging	Het
Bltp1	T	G	3: 37,050,697 (GRCm39)	M3011R	possibly damaging	Het
Ccdc180	A	G	4: 45,900,484 (GRCm39)	M283V	probably benign	Het
Cdh17	T	C	4: 11,771,323 (GRCm39)	F35S	probably damaging	Het
Clcn1	T	A	6: 42,282,477 (GRCm39)	I515N	probably damaging	Het
Cyp4f17	A	G	17: 32,743,068 (GRCm39)	Y247C	probably damaging	Het
Dcp1a	T	A	14: 30,240,899 (GRCm39)	H236Q	possibly damaging	Het
Dnah11	T	A	12: 117,874,764 (GRCm39)	N4034Y	probably damaging	Het
Dsg1a	A	G	18: 20,473,599 (GRCm39)	I891V	possibly damaging	Het
Eid3	A	G	10: 82,703,441 (GRCm39)	N301D	probably damaging	Het
Fbrs	C	A	7: 127,078,694 (GRCm39)	D108E	unknown	Het
Fbxw14	A	C	9: 109,116,071 (GRCm39)		probably benign	Het
Fzd8	A	G	18: 9,214,474 (GRCm39)	T519A	probably benign	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Gpr3	C	A	4: 132,938,538 (GRCm39)	V45L	possibly damaging	Het
Gramd1b	A	T	9: 40,215,780 (GRCm39)	I690K	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Klhl5	A	G	5: 65,305,989 (GRCm39)	I319V	probably benign	Het
Lars2	A	T	9: 123,221,892 (GRCm39)	E135D	possibly damaging	Het
Map9	T	A	3: 82,291,270 (GRCm39)	Y602N	possibly damaging	Het
Mphosph9	A	T	5: 124,463,027 (GRCm39)	L6*	probably null	Het
Naa35	C	T	13: 59,748,761 (GRCm39)	T131M	probably damaging	Het
Nucb2	T	A	7: 116,121,136 (GRCm39)	L22Q	possibly damaging	Het
Or8g26	A	G	9: 39,096,062 (GRCm39)	Y193C	probably damaging	Het
Or8k28	C	A	2: 86,286,078 (GRCm39)	C179F	probably damaging	Het
Pcdhb6	C	T	18: 37,468,837 (GRCm39)	T586I	probably benign	Het
Ppcs	A	T	4: 119,279,330 (GRCm39)	L74Q	probably damaging	Het
Ppp6r3	A	T	19: 3,517,216 (GRCm39)	V677D	probably benign	Het
Psg27	C	T	7: 18,294,337 (GRCm39)	G357S	probably damaging	Het
Ptgdr2	A	G	19: 10,918,380 (GRCm39)	N299S	probably damaging	Het
Relb	T	A	7: 19,353,762 (GRCm39)	I39F	probably damaging	Het
Ripor2	T	A	13: 24,901,651 (GRCm39)	S907R	possibly damaging	Het
Rnf170	T	G	8: 26,629,043 (GRCm39)	D172E	probably benign	Het
Rnf31	C	A	14: 55,832,396 (GRCm39)	Q273K	probably benign	Het
Rrp36	A	T	17: 46,983,336 (GRCm39)	S93T	probably damaging	Het
Rsad1	A	T	11: 94,439,100 (GRCm39)	V120D	probably benign	Het
Ryr3	C	T	2: 112,661,441 (GRCm39)	A1870T	probably damaging	Het
Serpina10	T	G	12: 103,595,063 (GRCm39)	D52A	probably benign	Het
Slc47a1	A	G	11: 61,261,055 (GRCm39)	I115T	probably benign	Het
Spag17	T	A	3: 99,920,543 (GRCm39)	M426K	probably benign	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Sptbn4	T	G	7: 27,063,592 (GRCm39)	E2283A	possibly damaging	Het
Top3a	A	G	11: 60,633,877 (GRCm39)	C740R	probably damaging	Het
Tpgs2	A	T	18: 25,291,365 (GRCm39)	V33E	probably damaging	Het
Treh	T	C	9: 44,592,823 (GRCm39)	I116T	probably damaging	Het
Trpm3	A	T	19: 22,955,952 (GRCm39)	N1138I	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vamp9	A	T	5: 100,089,094 (GRCm39)	N120Y	probably damaging	Het
Zswim9	G	T	7: 12,994,456 (GRCm39)	Q567K	probably benign	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
IGL02551:Kcnj4	APN	15	79,369,103 (GRCm39)	missense	probably benign	0.05
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
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

Predicted Primers

PCR Primer
(F):5'- CTCCAGGTCACCATGGAAGAAG -3'
(R):5'- AGTCTTGAGGTCTCATGTAGGC -3'

Sequencing Primer
(F):5'- TCACCATGGAAGAAGGCAATGC -3'
(R):5'- CTGGTCCTGAGAGTCTGGCAG -3'

Posted On

2021-04-30