Mutagenetix > Incidental Mutation

Incidental Mutation 'R4694:Kcnj3'

355533

Institutional Source

Beutler Lab

Gene Symbol

Kcnj3

Ensembl Gene

ENSMUSG00000026824

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 3

Synonyms

GIRK1, Kcnf3, Kir3.1

MMRRC Submission

041945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55325982-55488157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55484918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 339 (K339E)

Ref Sequence

ENSEMBL: ENSMUSP00000108252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067101] [ENSMUST00000112632] [ENSMUST00000112633]

AlphaFold

P63250

Predicted Effect

probably benign
Transcript: ENSMUST00000067101
AA Change: K339E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: K339E

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
Pfam:IRK	47	385	3.6e-164	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112632

SMART Domains

Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
Pfam:IRK	47	235	4e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112633
AA Change: K339E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: K339E

Domain	Start	End	E-Value	Type
low complexity region	18	37	N/A	INTRINSIC
Pfam:IRK	47	369	1.1e-141	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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 and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation display slightly increased resting heart rates, and blunted responses to both indirect vagal activation and direct adenosine A1 receptor activation (intended to activate the muscarinic-gated atrial potassium channel). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,979,586 (GRCm39)	F258Y	probably damaging	Het
Adamtsl4	C	T	3: 95,587,055 (GRCm39)	R765H	probably damaging	Het
Bicd1	T	A	6: 149,311,051 (GRCm39)	L42Q	probably damaging	Het
Cacna1e	C	T	1: 154,313,012 (GRCm39)		probably null	Het
Capn1	T	A	19: 6,044,761 (GRCm39)	K504*	probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cep350	T	C	1: 155,804,332 (GRCm39)	K917R	probably damaging	Het
Cp	A	T	3: 20,029,049 (GRCm39)	T509S	probably benign	Het
Cyp2d10	T	C	15: 82,288,684 (GRCm39)	D266G	probably damaging	Het
Dhodh	C	G	8: 110,333,048 (GRCm39)	R7P	probably damaging	Het
Dmxl2	A	G	9: 54,354,189 (GRCm39)	L419P	probably benign	Het
Epb41l4b	A	T	4: 57,019,875 (GRCm39)	M84K	probably benign	Het
Fbln7	A	G	2: 128,722,345 (GRCm39)		probably null	Het
Fbxw11	C	T	11: 32,592,820 (GRCm39)		probably benign	Het
Flnc	C	A	6: 29,443,447 (GRCm39)	P543T	probably damaging	Het
Grid1	T	C	14: 34,748,737 (GRCm39)	S186P	probably damaging	Het
Hcfc2	C	T	10: 82,559,534 (GRCm39)	T382M	probably damaging	Het
Hdac9	G	T	12: 34,487,246 (GRCm39)	L73I	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,163 (GRCm39)	D302E	probably damaging	Het
Ifi204	C	T	1: 173,576,825 (GRCm39)	C592Y	probably damaging	Het
Jph1	T	A	1: 17,067,729 (GRCm39)	I653F	probably damaging	Het
Kcp	G	A	6: 29,493,196 (GRCm39)	T838I	probably benign	Het
Krtap26-1	A	T	16: 88,444,108 (GRCm39)	V171E	possibly damaging	Het
Lck	G	T	4: 129,442,765 (GRCm39)	N452K	possibly damaging	Het
Madd	A	G	2: 90,990,673 (GRCm39)	L1134S	probably damaging	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Man1c1	T	C	4: 134,430,500 (GRCm39)	D94G	probably benign	Het
Me2	T	A	18: 73,934,930 (GRCm39)	M38L	probably benign	Het
Muc2	A	C	7: 141,306,082 (GRCm39)	D257A	probably damaging	Het
Myh11	T	C	16: 14,018,566 (GRCm39)	K1927E	probably damaging	Het
Naaladl1	C	T	19: 6,158,920 (GRCm39)	P324S	probably damaging	Het
Ndufa10	T	C	1: 92,379,824 (GRCm39)	E303G	probably benign	Het
Nedd1	C	T	10: 92,555,444 (GRCm39)	V14I	probably benign	Het
Nwd1	T	G	8: 73,393,958 (GRCm39)	V407G	probably damaging	Het
Or2h15	A	C	17: 38,441,748 (GRCm39)	C112G	probably damaging	Het
Or4b1d	T	A	2: 89,968,593 (GRCm39)	K297*	probably null	Het
Or4k15c	T	C	14: 50,321,476 (GRCm39)	I221V	probably benign	Het
Or5w13	T	A	2: 87,524,104 (GRCm39)	T41S	probably benign	Het
Or7g29	A	G	9: 19,286,694 (GRCm39)	L161P	probably damaging	Het
Pgrmc2	T	C	3: 41,024,840 (GRCm39)	D144G	probably damaging	Het
Ppp3cb	T	C	14: 20,551,583 (GRCm39)	N516S	probably benign	Het
Pramel27	T	C	4: 143,579,530 (GRCm39)	S372P	probably damaging	Het
Prelp	A	G	1: 133,842,485 (GRCm39)	M220T	probably damaging	Het
Prss36	A	G	7: 127,534,787 (GRCm39)	W465R	probably damaging	Het
Pth2r	C	A	1: 65,375,920 (GRCm39)	F59L	probably benign	Het
Rab20	C	T	8: 11,504,485 (GRCm39)	G72R	probably damaging	Het
Rab4a	G	T	8: 124,555,769 (GRCm39)	G49W	probably damaging	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rock1	A	T	18: 10,136,152 (GRCm39)	Y178*	probably null	Het
Scaf8	C	A	17: 3,247,679 (GRCm39)	L1001I	probably damaging	Het
Sema3b	G	A	9: 107,482,201 (GRCm39)	P26S	probably benign	Het
Slc23a1	A	G	18: 35,752,633 (GRCm39)	L548P	probably damaging	Het
Sncaip	A	C	18: 53,039,629 (GRCm39)	T548P	probably benign	Het
Stpg2	C	T	3: 139,023,177 (GRCm39)	P398S	possibly damaging	Het
Stpg3	A	C	2: 25,103,309 (GRCm39)	V260G	probably damaging	Het
Tbc1d9	T	A	8: 83,960,875 (GRCm39)	F242I	probably damaging	Het
Tnks1bp1	G	A	2: 84,902,066 (GRCm39)	R992Q	probably damaging	Het
Tom1l1	T	G	11: 90,537,675 (GRCm39)	H394P	possibly damaging	Het
Topors	T	G	4: 40,261,442 (GRCm39)	N614T	possibly damaging	Het
Trank1	A	T	9: 111,221,129 (GRCm39)	Q2622L	probably benign	Het
Trub2	A	G	2: 29,668,858 (GRCm39)	S186P	probably damaging	Het
Unc13c	T	A	9: 73,479,636 (GRCm39)	H1756L	probably benign	Het
Vmn1r9	A	T	6: 57,048,314 (GRCm39)	I130F	probably benign	Het
Wdr72	A	T	9: 74,086,837 (GRCm39)	I602F	probably damaging	Het
Zfand3	T	A	17: 30,354,362 (GRCm39)	F60I	possibly damaging	Het
Zfp946	G	A	17: 22,674,692 (GRCm39)	G482E	probably benign	Het

Other mutations in Kcnj3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Kcnj3	APN	2	55,485,284 (GRCm39)	missense	possibly damaging	0.88
IGL01889:Kcnj3	APN	2	55,327,216 (GRCm39)	missense	possibly damaging	0.69
IGL01988:Kcnj3	APN	2	55,327,243 (GRCm39)	missense	probably benign	0.43
IGL01989:Kcnj3	APN	2	55,327,243 (GRCm39)	missense	probably benign	0.43
IGL02004:Kcnj3	APN	2	55,327,243 (GRCm39)	missense	probably benign	0.43
IGL02035:Kcnj3	APN	2	55,327,590 (GRCm39)	missense	probably damaging	1.00
R0268:Kcnj3	UTSW	2	55,484,971 (GRCm39)	nonsense	probably null
R0565:Kcnj3	UTSW	2	55,485,276 (GRCm39)	missense	probably benign	0.03
R0853:Kcnj3	UTSW	2	55,327,235 (GRCm39)	missense	possibly damaging	0.69
R1318:Kcnj3	UTSW	2	55,327,750 (GRCm39)	missense	possibly damaging	0.88
R1592:Kcnj3	UTSW	2	55,327,898 (GRCm39)	missense	probably damaging	1.00
R1756:Kcnj3	UTSW	2	55,327,232 (GRCm39)	missense	probably damaging	1.00
R1899:Kcnj3	UTSW	2	55,327,256 (GRCm39)	missense	probably damaging	1.00
R1966:Kcnj3	UTSW	2	55,327,343 (GRCm39)	missense	probably damaging	0.99
R2891:Kcnj3	UTSW	2	55,337,027 (GRCm39)	missense	probably damaging	1.00
R2892:Kcnj3	UTSW	2	55,337,027 (GRCm39)	missense	probably damaging	1.00
R2893:Kcnj3	UTSW	2	55,337,027 (GRCm39)	missense	probably damaging	1.00
R3901:Kcnj3	UTSW	2	55,327,360 (GRCm39)	missense	possibly damaging	0.46
R4470:Kcnj3	UTSW	2	55,327,877 (GRCm39)	missense	probably damaging	1.00
R4603:Kcnj3	UTSW	2	55,336,991 (GRCm39)	nonsense	probably null
R4945:Kcnj3	UTSW	2	55,327,590 (GRCm39)	missense	probably damaging	1.00
R5144:Kcnj3	UTSW	2	55,337,059 (GRCm39)	splice site	probably null
R5332:Kcnj3	UTSW	2	55,327,559 (GRCm39)	missense	probably damaging	1.00
R5959:Kcnj3	UTSW	2	55,327,330 (GRCm39)	missense	probably benign	0.10
R6352:Kcnj3	UTSW	2	55,327,561 (GRCm39)	missense	probably benign	0.06
R7042:Kcnj3	UTSW	2	55,484,877 (GRCm39)	missense	possibly damaging	0.87
R7475:Kcnj3	UTSW	2	55,327,338 (GRCm39)	missense	probably benign	0.09
R7626:Kcnj3	UTSW	2	55,484,833 (GRCm39)	nonsense	probably null
R7771:Kcnj3	UTSW	2	55,336,949 (GRCm39)	missense	probably damaging	1.00
R8225:Kcnj3	UTSW	2	55,327,726 (GRCm39)	missense	probably damaging	1.00
R8558:Kcnj3	UTSW	2	55,336,875 (GRCm39)	missense	possibly damaging	0.91
R8986:Kcnj3	UTSW	2	55,485,039 (GRCm39)	missense	probably benign
R9653:Kcnj3	UTSW	2	55,484,864 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGAGCAGAACGGACTC -3'
(R):5'- TTGGGAAAGTCTTCTCTCCCCG -3'

Sequencing Primer
(F):5'- GCTTGCAGGAATGACTTG -3'
(R):5'- CCGTAATTTTCTGCAGCTTCGATGG -3'

Posted On

2015-10-21