Mutagenetix > Incidental Mutation

Incidental Mutation 'R1966:Kcnj3'

218914

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

039979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1966 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55325982-55488157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55327343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 44 (Q44L)

Ref Sequence

ENSEMBL: ENSMUSP00000108251 (fasta)

Gene Model

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

AlphaFold

P63250

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067101
AA Change: Q44L

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: Q44L

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 damaging
Transcript: ENSMUST00000112632
AA Change: Q44L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824
AA Change: Q44L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112633
AA Change: Q44L

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: Q44L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180810

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,650 (GRCm39)	V185E	probably benign	Het
Abca1	A	C	4: 53,050,409 (GRCm39)	V1608G	probably damaging	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arhgef15	G	T	11: 68,845,501 (GRCm39)	P117Q	probably damaging	Het
Arhgef39	T	C	4: 43,496,710 (GRCm39)	S335G	probably benign	Het
Blm	A	T	7: 80,162,934 (GRCm39)	F139Y	possibly damaging	Het
Cacna2d1	C	T	5: 16,538,783 (GRCm39)	R581*	probably null	Het
Cadps	C	A	14: 12,822,450 (GRCm38)	E97*	probably null	Het
Cavin2	T	A	1: 51,328,801 (GRCm39)	L86Q	probably damaging	Het
Ccdc136	A	G	6: 29,418,091 (GRCm39)	E787G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cdh23	T	C	10: 60,159,361 (GRCm39)	Y2138C	probably damaging	Het
Cdk12	T	A	11: 98,094,916 (GRCm39)	Y241*	probably null	Het
Clcn4	T	A	7: 7,287,184 (GRCm39)	*688L	probably null	Het
Cntnap1	T	C	11: 101,071,212 (GRCm39)	V375A	possibly damaging	Het
Coq5	T	A	5: 115,432,890 (GRCm39)		probably null	Het
Cyp4b1	A	G	4: 115,483,076 (GRCm39)	I405T	probably benign	Het
Det1	T	C	7: 78,492,966 (GRCm39)	Y346C	probably damaging	Het
Enpp3	A	T	10: 24,683,389 (GRCm39)	V276E	probably damaging	Het
Epb41l2	G	A	10: 25,317,666 (GRCm39)	R61Q	probably benign	Het
Fam76b	G	A	9: 13,739,362 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,052,048 (GRCm39)	D238E	probably benign	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gnao1	C	A	8: 94,670,827 (GRCm39)	T102K	probably benign	Het
Gpatch2	T	A	1: 187,054,498 (GRCm39)	D76E	probably damaging	Het
Gpd1l	A	G	9: 114,743,462 (GRCm39)	I146T	probably benign	Het
Grik2	A	T	10: 49,232,005 (GRCm39)	H508Q	probably damaging	Het
Hapstr1	A	G	16: 8,648,445 (GRCm39)	E41G	possibly damaging	Het
Hk3	A	T	13: 55,162,268 (GRCm39)	F112Y	probably damaging	Het
Hmcn2	T	G	2: 31,279,341 (GRCm39)	I1781S	probably damaging	Het
Inhba	A	T	13: 16,201,221 (GRCm39)	K261M	probably damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcna2	T	C	3: 107,011,946 (GRCm39)	S176P	probably damaging	Het
Kcns1	G	T	2: 164,010,455 (GRCm39)	F101L	probably damaging	Het
Kdm5b	T	A	1: 134,541,611 (GRCm39)		probably null	Het
Klhl14	C	T	18: 21,687,730 (GRCm39)	G564D	probably damaging	Het
Klhl18	A	T	9: 110,305,658 (GRCm39)	V2E	probably benign	Het
Klhl6	T	C	16: 19,801,572 (GRCm39)	E61G	probably damaging	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lama5	C	A	2: 179,830,145 (GRCm39)	C1896F	probably damaging	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Lrch3	A	G	16: 32,734,755 (GRCm39)	T82A	possibly damaging	Het
Maml3	C	G	3: 52,011,560 (GRCm39)	G2A	unknown	Het
Mapkap1	T	A	2: 34,408,691 (GRCm39)	N34K	probably damaging	Het
Muc13	A	T	16: 33,634,909 (GRCm39)	I488F	probably damaging	Het
Muc5ac	A	G	7: 141,357,113 (GRCm39)	D1129G	possibly damaging	Het
Nacc1	A	T	8: 85,403,010 (GRCm39)	N288K	probably damaging	Het
Nek1	T	G	8: 61,469,330 (GRCm39)	I129R	probably damaging	Het
Nf1	T	A	11: 79,302,390 (GRCm39)	S319R	possibly damaging	Het
Nle1	C	T	11: 82,792,614 (GRCm39)	G432D	probably damaging	Het
Nol4l	A	G	2: 153,371,375 (GRCm39)	V103A	probably benign	Het
Oca2	A	G	7: 56,064,215 (GRCm39)	I737V	probably damaging	Het
Or12k5	A	T	2: 36,894,960 (GRCm39)	F222Y	possibly damaging	Het
Or1j17	G	A	2: 36,578,796 (GRCm39)	V261I	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or51l4	G	T	7: 103,404,375 (GRCm39)	T139K	probably damaging	Het
Or52ac1	A	G	7: 104,246,008 (GRCm39)	C127R	probably damaging	Het
Or6k6	G	T	1: 173,944,817 (GRCm39)	S255*	probably null	Het
Or6s1	T	A	14: 51,308,614 (GRCm39)	I79F	probably damaging	Het
Orc1	T	A	4: 108,469,414 (GRCm39)	I746N	probably damaging	Het
Pbxip1	A	G	3: 89,352,795 (GRCm39)	D147G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plin5	T	A	17: 56,419,186 (GRCm39)	D412V	probably damaging	Het
Plxna2	A	T	1: 194,327,008 (GRCm39)	Y314F	possibly damaging	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Prss38	T	C	11: 59,264,310 (GRCm39)	Y219C	probably damaging	Het
Ptx3	C	T	3: 66,132,042 (GRCm39)	R188C	probably damaging	Het
Ralgds	T	A	2: 28,435,887 (GRCm39)	V504E	probably damaging	Het
Rere	T	C	4: 150,701,330 (GRCm39)	Y1237H	probably damaging	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Rrp15	C	T	1: 186,468,402 (GRCm39)	V205I	possibly damaging	Het
Scpep1	A	G	11: 88,843,240 (GRCm39)	W73R	probably damaging	Het
Sec23ip	A	G	7: 128,357,077 (GRCm39)	H376R	probably damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Shtn1	T	G	19: 58,963,470 (GRCm39)	Y615S	probably benign	Het
Slc20a2	C	A	8: 23,035,553 (GRCm39)	P184T	probably damaging	Het
Slc22a29	C	A	19: 8,195,772 (GRCm39)	R89L	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Tas2r122	A	T	6: 132,688,157 (GRCm39)	Y245*	probably null	Het
Ticrr	C	A	7: 79,344,483 (GRCm39)	C1449*	probably null	Het
Tmem181a	T	C	17: 6,353,501 (GRCm39)	V412A	probably benign	Het
Tmtc4	T	A	14: 123,165,011 (GRCm39)	E616V	probably benign	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Trpm8	T	A	1: 88,260,470 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,265,845 (GRCm39)	T1163A	probably benign	Het
Ubr4	A	G	4: 139,178,555 (GRCm39)		probably null	Het
Ulk2	A	T	11: 61,710,297 (GRCm39)		probably null	Het
Ulk4	T	A	9: 121,086,182 (GRCm39)	M350L	probably benign	Het
Vmn1r185	T	C	7: 26,310,956 (GRCm39)	E183G	probably benign	Het
Vmn1r76	T	A	7: 11,664,441 (GRCm39)	I223F	probably damaging	Het
Wdr27	T	C	17: 15,154,861 (GRCm39)	T19A	possibly damaging	Het
Wdr59	T	G	8: 112,177,535 (GRCm39)	T973P	possibly damaging	Het
Wnk2	A	G	13: 49,192,487 (GRCm39)	S664P	probably damaging	Het
Zfp1004	T	A	2: 150,033,827 (GRCm39)	D49E	probably benign	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp30	C	A	7: 29,491,877 (GRCm39)	Q44K	probably benign	Het
Zfp541	T	C	7: 15,812,996 (GRCm39)	S550P	probably benign	Het
Zw10	C	A	9: 48,980,133 (GRCm39)	N421K	probably damaging	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
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
R4694:Kcnj3	UTSW	2	55,484,918 (GRCm39)	missense	probably benign	0.00
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'- CCGCTTCGTGTTTGAATCTG -3'
(R):5'- GAGTGTAGTTGCCGACATGG -3'

Sequencing Primer
(F):5'- GTGTTTGAATCTGGCTCGCCC -3'
(R):5'- CCCGGGTATAAGCGATCAC -3'

Posted On

2014-08-25