Mutagenetix > Incidental Mutation

Incidental Mutation 'R7598:Kcnj4'

587860

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

045641-MU

Accession Numbers

Essential gene?

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

Stock #

R7598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79367915-79389442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79369965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 5 (N5S)

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: N5S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: N5S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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
Acss1	T	C	2: 150,480,370 (GRCm39)	S234G	probably benign	Het
Agtr1b	A	T	3: 20,370,077 (GRCm39)	N176K	possibly damaging	Het
AI661453	T	C	17: 47,777,045 (GRCm39)	V257A	unknown	Het
Alpk2	T	A	18: 65,437,637 (GRCm39)	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,767,445 (GRCm39)	T159A	possibly damaging	Het
Ap1g1	A	G	8: 110,576,308 (GRCm39)	N447S	probably benign	Het
Apoc4	A	G	7: 19,415,265 (GRCm39)	V14A	probably benign	Het
Arfgef2	A	C	2: 166,698,444 (GRCm39)	Q638P	probably benign	Het
Arhgap20	C	A	9: 51,761,090 (GRCm39)	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,224,879 (GRCm39)	R459*	probably null	Het
Arhgef15	A	T	11: 68,837,236 (GRCm39)	L785Q	probably damaging	Het
B3gnt7	T	C	1: 86,233,500 (GRCm39)	F249L	probably benign	Het
Carmil3	A	G	14: 55,732,278 (GRCm39)	E233G	possibly damaging	Het
Ccdc122	C	A	14: 77,349,006 (GRCm39)	Q279K	probably benign	Het
Cilp2	A	G	8: 70,338,682 (GRCm39)	C134R	probably benign	Het
Clec4b1	G	A	6: 123,048,427 (GRCm39)	W187*	probably null	Het
Ddx11	G	A	17: 66,437,541 (GRCm39)		probably null	Het
Dhrs7c	A	T	11: 67,702,279 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,921,435 (GRCm39)	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,772,235 (GRCm39)	N148S	probably damaging	Het
Hs6st3	T	A	14: 120,106,750 (GRCm39)	V386E	probably damaging	Het
Itih3	C	T	14: 30,639,334 (GRCm39)	R413Q	possibly damaging	Het
Klhl18	A	T	9: 110,275,878 (GRCm39)	L155*	probably null	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lzts2	G	T	19: 45,012,272 (GRCm39)	G234*	probably null	Het
Map4k5	A	T	12: 69,871,412 (GRCm39)	F503L	possibly damaging	Het
Men1	A	T	19: 6,389,735 (GRCm39)	I463L	probably benign	Het
Muc5b	A	G	7: 141,412,999 (GRCm39)	T1982A	unknown	Het
Myo18a	A	T	11: 77,738,172 (GRCm39)	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,372,977 (GRCm39)	S1090G	probably benign	Het
Or2b7	T	C	13: 21,739,358 (GRCm39)	Y278C	probably damaging	Het
Or8k28	C	A	2: 86,286,234 (GRCm39)	C127F	probably damaging	Het
Pcdhb7	T	C	18: 37,475,833 (GRCm39)	F323S	probably damaging	Het
Pde11a	T	A	2: 75,966,767 (GRCm39)	T561S	probably damaging	Het
Phip	A	C	9: 82,787,711 (GRCm39)	S817R	possibly damaging	Het
Phxr2	T	A	10: 98,961,941 (GRCm39)	M40L	unknown	Het
Pip4k2a	T	A	2: 18,877,098 (GRCm39)	L212F	possibly damaging	Het
Proc	T	A	18: 32,268,929 (GRCm39)	I19L	probably benign	Het
Rbm4	T	C	19: 4,842,539 (GRCm39)	E100G	possibly damaging	Het
Rhobtb3	T	C	13: 76,059,021 (GRCm39)	Y259C	probably benign	Het
Rtkn	A	G	6: 83,124,884 (GRCm39)	D168G	probably null	Het
Sdk1	T	G	5: 141,595,753 (GRCm39)	Y136*	probably null	Het
Slk	G	A	19: 47,624,901 (GRCm39)	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,454,973 (GRCm39)	R378*	probably null	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spag16	T	C	1: 69,909,467 (GRCm39)	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,531,838 (GRCm39)	C198R	probably damaging	Het
Tor1a	A	C	2: 30,857,796 (GRCm39)	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569 (GRCm39)	T1598K	probably benign	Het
Uncx	G	A	5: 139,529,809 (GRCm39)	V21M	probably benign	Het
Usp5	A	T	6: 124,803,342 (GRCm39)	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp654	T	A	16: 64,606,297 (GRCm39)	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,047,840 (GRCm39)	L64P	probably benign	Het
Zfyve28	A	C	5: 34,393,461 (GRCm39)	N68K	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGGTCACCATGGAAGAAG -3'
(R):5'- CGGAAGTCTTGAGGTCTCATG -3'

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

Posted On

2019-10-24