Mutagenetix > Incidental Mutation

Incidental Mutation 'R4945:Kcnj3'

381278

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

042542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55325982-55488157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55327590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 126 (N126K)

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: N126K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: N126K

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: N126K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824
AA Change: N126K

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: N126K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: N126K

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: 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,876,622 (GRCm39)	R512H	probably damaging	Het
Adgrl2	T	A	3: 148,528,672 (GRCm39)	M1158L	probably damaging	Het
Adgrl3	C	A	5: 81,659,895 (GRCm39)	H153Q	probably damaging	Het
Aldh1a2	C	A	9: 71,123,198 (GRCm39)	Q24K	probably benign	Het
Atp1b1	A	G	1: 164,265,867 (GRCm39)	V298A	probably damaging	Het
Casp8ap2	T	A	4: 32,631,163 (GRCm39)	N74K	possibly damaging	Het
Cep135	A	G	5: 76,745,275 (GRCm39)	D229G	probably benign	Het
Cerk	C	G	15: 86,040,802 (GRCm39)	D186H	probably benign	Het
Cmtr2	T	C	8: 110,948,065 (GRCm39)	F125S	probably damaging	Het
Col6a1	A	G	10: 76,548,106 (GRCm39)	V650A	unknown	Het
Cuzd1	A	G	7: 130,918,350 (GRCm39)	F196L	probably damaging	Het
Esm1	T	G	13: 113,346,679 (GRCm39)		probably null	Het
Fbn2	T	A	18: 58,183,325 (GRCm39)	I1787F	possibly damaging	Het
Gm1110	T	C	9: 26,831,891 (GRCm39)	M87V	possibly damaging	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
Grk2	A	G	19: 4,340,475 (GRCm39)	I302T	probably damaging	Het
Hoxb6	A	G	11: 96,190,085 (GRCm39)	Y28C	possibly damaging	Het
Ift27	A	G	15: 78,048,454 (GRCm39)	V110A	probably damaging	Het
Igfbp7	T	C	5: 77,499,104 (GRCm39)	D267G	probably benign	Het
Ighv1-49	C	A	12: 115,019,028 (GRCm39)	V56L	possibly damaging	Het
Ighv8-8	C	T	12: 115,257,881 (GRCm39)	M53I	probably benign	Het
Kif12	C	T	4: 63,086,730 (GRCm39)		probably null	Het
Lrif1	A	C	3: 106,643,069 (GRCm39)	I725L	probably damaging	Het
Lrrk2	T	C	15: 91,689,123 (GRCm39)	V2265A	probably benign	Het
Med25	T	C	7: 44,532,526 (GRCm39)	N438S	possibly damaging	Het
Mex3b	A	T	7: 82,519,382 (GRCm39)	T566S	probably benign	Het
Mkx	T	C	18: 7,000,657 (GRCm39)	N95S	possibly damaging	Het
Morc3	A	T	16: 93,668,082 (GRCm39)	D820V	probably damaging	Het
Mroh4	G	T	15: 74,483,857 (GRCm39)	N562K	probably benign	Het
Ndst3	A	T	3: 123,346,201 (GRCm39)	I276N	probably damaging	Het
Notch2	A	G	3: 98,019,037 (GRCm39)	N733S	probably benign	Het
Or10a5	A	T	7: 106,635,526 (GRCm39)	M55L	probably benign	Het
Or2l13b	C	A	16: 19,349,307 (GRCm39)	R121L	probably benign	Het
Or51k1	G	A	7: 103,661,585 (GRCm39)	T108I	possibly damaging	Het
Or5ak24	T	C	2: 85,260,895 (GRCm39)	T93A	probably benign	Het
Or5m13	T	A	2: 85,748,917 (GRCm39)	I216N	possibly damaging	Het
Or8b38	G	T	9: 37,973,068 (GRCm39)	G151C	probably damaging	Het
Or8b44	A	T	9: 38,410,585 (GRCm39)	I207F	probably damaging	Het
Or8k37	T	C	2: 86,469,833 (GRCm39)	Y73C	probably damaging	Het
Patj	A	T	4: 98,383,301 (GRCm39)	N268Y	probably damaging	Het
Pbrm1	T	A	14: 30,774,173 (GRCm39)	D446E	probably damaging	Het
Pcdhga11	A	G	18: 37,891,085 (GRCm39)	T698A	probably benign	Het
Pde6a	T	C	18: 61,367,790 (GRCm39)	V266A	probably damaging	Het
Phax	G	T	18: 56,709,063 (GRCm39)	R209L	probably damaging	Het
Pld2	T	A	11: 70,446,524 (GRCm39)	M20K	probably damaging	Het
Rabl3	T	C	16: 37,362,220 (GRCm39)	S20P	probably damaging	Het
Rad51	T	A	2: 118,957,629 (GRCm39)	V174E	probably damaging	Het
Rb1cc1	A	G	1: 6,319,851 (GRCm39)	E1090G	probably benign	Het
Rfc3	T	C	5: 151,566,450 (GRCm39)	E333G	probably damaging	Het
Rfx6	T	G	10: 51,602,947 (GRCm39)	Y821*	probably null	Het
Riok3	A	G	18: 12,261,972 (GRCm39)	D2G	probably damaging	Het
Rtn1	G	T	12: 72,264,258 (GRCm39)	A183E	probably damaging	Het
Skint8	T	C	4: 111,796,805 (GRCm39)	L303P	probably damaging	Het
Slc36a2	C	A	11: 55,065,520 (GRCm39)	V162L	probably benign	Het
Sorcs3	T	C	19: 48,752,587 (GRCm39)	V794A	possibly damaging	Het
Sspo	A	G	6: 48,444,021 (GRCm39)		probably null	Het
Tbk1	T	C	10: 121,387,174 (GRCm39)	N707S	probably damaging	Het
Tchhl1	A	T	3: 93,378,883 (GRCm39)	H529L	probably benign	Het
Tgfbr2	A	T	9: 115,960,633 (GRCm39)	H106Q	probably benign	Het
Trim8	A	G	19: 46,491,214 (GRCm39)	E111G	probably benign	Het
Tshz2	A	G	2: 169,725,794 (GRCm39)	Y130C	probably damaging	Het
Txndc15	T	A	13: 55,865,978 (GRCm39)	D147E	probably benign	Het
Vmn1r172	T	A	7: 23,359,745 (GRCm39)	L210H	possibly damaging	Het
Vmn1r55	A	G	7: 5,150,105 (GRCm39)	V106A	probably damaging	Het
Vmn2r49	T	A	7: 9,720,214 (GRCm39)	K426*	probably null	Het
Wnk2	C	T	13: 49,210,722 (GRCm39)	R206Q	probably damaging	Het
Zfp1007	A	T	5: 109,824,941 (GRCm39)	C170S	possibly damaging	Het
Zfp473	T	C	7: 44,383,988 (GRCm39)	N115S	probably benign	Het
Zfp536	G	T	7: 37,269,161 (GRCm39)	A85D	probably damaging	Het
Zfp853	C	A	5: 143,274,584 (GRCm39)	Q345H	unknown	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
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'- GCAATGTGCAGCATGGTAACC -3'
(R):5'- GGCTGGGACATCTTGATGAAC -3'

Sequencing Primer
(F):5'- GAGACCAGTCGCTACCTTTCG -3'
(R):5'- TCTTGATGAACATGCAGCCG -3'

Posted On

2016-04-27