Mutagenetix > Incidental Mutation

Incidental Mutation 'R9653:Kcnj3'

727162

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55325982-55488157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55484864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 321 (V321M)

Ref Sequence

ENSEMBL: ENSMUSP00000063329 (fasta)

Gene Model

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

AlphaFold

P63250

PDB Structure

Crystal Structure of the Cytoplasmic Domain of G-protein Activated Inward Rectifier Potassium Channel 1 [X-RAY DIFFRACTION]
Crystal Structure of Cytoplasmic Domains of GIRK1 channel [X-RAY DIFFRACTION]
Crystal structure of a Kir3.1-prokaryotic Kir channel chimera [X-RAY DIFFRACTION]
Crystal structure of the S225E mutant Kir3.1 cytoplasmic pore domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067101
AA Change: V321M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: V321M

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 damaging
Transcript: ENSMUST00000112633
AA Change: V321M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: V321M

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Adamtsl5	C	T	10: 80,180,763 (GRCm39)	G100R	probably damaging	Het
Adgrg5	C	T	8: 95,663,864 (GRCm39)	P235S		Het
Anks1b	T	G	10: 90,346,524 (GRCm39)	L608R	probably damaging	Het
Ano10	C	G	9: 122,080,221 (GRCm39)	A597P	possibly damaging	Het
Calb2	T	C	8: 110,881,374 (GRCm39)	M58V	probably benign	Het
Ccdc180	T	C	4: 45,923,495 (GRCm39)	I1092T	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chmp2a	A	T	7: 12,766,456 (GRCm39)	F129I	probably damaging	Het
Clasp2	T	A	9: 113,670,993 (GRCm39)	W365R	probably benign	Het
Col12a1	T	C	9: 79,584,556 (GRCm39)	K1344R	probably benign	Het
Col3a1	A	G	1: 45,360,728 (GRCm39)	I53V	unknown	Het
Coro2b	T	C	9: 62,335,259 (GRCm39)	Y309C	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dhdh	T	C	7: 45,128,551 (GRCm39)	D209G	probably damaging	Het
Dnah7b	T	C	1: 46,252,544 (GRCm39)	V1742A	possibly damaging	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dscaml1	T	C	9: 45,643,466 (GRCm39)		probably null	Het
Eps8l1	A	T	7: 4,481,886 (GRCm39)	K704M	unknown	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fgd4	T	A	16: 16,254,461 (GRCm39)	H524L	probably benign	Het
Fktn	T	A	4: 53,731,273 (GRCm39)	F103I	probably benign	Het
Gcc2	T	C	10: 58,110,822 (GRCm39)	M1001T	possibly damaging	Het
Gm4847	T	C	1: 166,467,582 (GRCm39)	S205G	possibly damaging	Het
Grid2	A	T	6: 63,907,968 (GRCm39)	N203Y	possibly damaging	Het
Hif3a	G	A	7: 16,782,641 (GRCm39)	A308V	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Igfn1	G	A	1: 135,883,323 (GRCm39)	Q2728*	probably null	Het
Ighv5-16	C	A	12: 113,802,313 (GRCm39)	K62N	possibly damaging	Het
Ip6k3	A	T	17: 27,367,588 (GRCm39)	Y203N	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Kmt2c	A	G	5: 25,507,819 (GRCm39)	L3206P	probably damaging	Het
Krtap5-4	T	C	7: 141,857,908 (GRCm39)	C193R	unknown	Het
Large1	G	T	8: 73,564,106 (GRCm39)	H553Q	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Lypd6	A	T	2: 50,080,758 (GRCm39)	T149S	probably benign	Het
Map3k1	T	C	13: 111,890,296 (GRCm39)	N1301S	possibly damaging	Het
Ndufv2	C	T	17: 66,396,251 (GRCm39)	W91*	probably null	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Npas1	T	C	7: 16,190,146 (GRCm39)	I467V	probably benign	Het
Nucb1	A	G	7: 45,144,202 (GRCm39)	M337T	probably benign	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or10d4b	T	C	9: 39,535,154 (GRCm39)	L243P	probably damaging	Het
Or4f14c	A	T	2: 111,941,261 (GRCm39)	M112K	probably damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Padi2	T	C	4: 140,662,036 (GRCm39)		probably null	Het
Pam	C	T	1: 97,768,469 (GRCm39)	V660M	possibly damaging	Het
Phc2	C	T	4: 128,641,012 (GRCm39)	L700F	probably damaging	Het
Plekha1	T	C	7: 130,479,494 (GRCm39)	V4A	possibly damaging	Het
Rai1	A	G	11: 60,080,142 (GRCm39)	E1402G	probably benign	Het
Recql5	G	A	11: 115,788,032 (GRCm39)	A429V	probably benign	Het
Rere	A	G	4: 150,516,010 (GRCm39)	N101S	probably benign	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rsl1	T	A	13: 67,330,106 (GRCm39)	Y185N	probably damaging	Het
Rsph3a	T	C	17: 8,165,074 (GRCm39)	S145P	possibly damaging	Het
Sall1	T	C	8: 89,757,506 (GRCm39)	E866G	probably damaging	Het
Sall3	A	T	18: 81,016,228 (GRCm39)	S567T	probably benign	Het
Sap30	G	A	8: 57,938,156 (GRCm39)	Q154*	probably null	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn8a	A	G	15: 100,937,947 (GRCm39)	E1772G	probably damaging	Het
Scube3	C	T	17: 28,375,772 (GRCm39)	A169V	probably damaging	Het
Sema6c	T	C	3: 95,080,525 (GRCm39)	S940P	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Shisal2b	A	G	13: 105,000,296 (GRCm39)		probably benign	Het
Skp1	A	G	11: 52,134,514 (GRCm39)	T82A	possibly damaging	Het
Slc39a14	G	T	14: 70,547,248 (GRCm39)	T366K	probably damaging	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Sntg1	T	A	1: 8,433,749 (GRCm39)	T501S	unknown	Het
Srsf12	T	C	4: 33,231,249 (GRCm39)	S253P	possibly damaging	Het
Sycp2l	A	G	13: 41,295,381 (GRCm39)	S315G	probably benign	Het
Tars2	T	C	3: 95,655,379 (GRCm39)	Y337C	probably damaging	Het
Thbs4	T	C	13: 92,898,022 (GRCm39)	D599G	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tmem255b	T	A	8: 13,506,005 (GRCm39)	V204E	probably damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Utrn	T	A	10: 12,497,123 (GRCm39)	I2429F	probably benign	Het
Utrn	C	T	10: 12,539,189 (GRCm39)	A1943T	probably benign	Het
Vmn2r85	A	T	10: 130,261,694 (GRCm39)	D214E	probably damaging	Het
Wdr81	G	T	11: 75,340,213 (GRCm39)	P183T		Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp532	T	A	18: 65,756,308 (GRCm39)	D80E	possibly damaging	Het
Zfyve26	T	C	12: 79,334,418 (GRCm39)	D200G	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
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

Predicted Primers

PCR Primer
(F):5'- CACCTTGTGCGTTTCTGAGG -3'
(R):5'- AATTTTCTGCAGCTTCGATGG -3'

Sequencing Primer
(F):5'- GAGGAGAGTATACACACTACAGCTC -3'
(R):5'- AGTTTTGTGCTAATGTCATCTAGTCC -3'

Posted On

2022-10-06