Mutagenetix > Incidental Mutation

Incidental Mutation 'R7309:Kcnj9'

567426

Institutional Source

Beutler Lab

Gene Symbol

Kcnj9

Ensembl Gene

ENSMUSG00000038026

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 9

Synonyms

1700085N21Rik, Kir3.3, Girk3

MMRRC Submission

045408-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172148075-172156889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172153825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 100 (C100R)

Ref Sequence

ENSEMBL: ENSMUSP00000060110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062387] [ENSMUST00000194204]

AlphaFold

P48543

Predicted Effect

probably damaging
Transcript: ENSMUST00000062387
AA Change: C100R

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

SMART Domains

Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026
AA Change: C100R

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
Pfam:IRK	25	350	3.1e-142	PFAM
low complexity region	362	377	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000194204
AA Change: C100R

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

SMART Domains

Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026
AA Change: C100R

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
Pfam:IRK	25	361	7.4e-165	PFAM
low complexity region	362	377	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (47/50)

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. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus does not result in any overt phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,884,819 (GRCm39)	H346Q	probably damaging	Het
4932414N04Rik	A	T	2: 68,546,530 (GRCm39)	I71L	probably benign	Het
Anapc1	A	G	2: 128,516,604 (GRCm39)	S377P	probably damaging	Het
Cldnd2	A	G	7: 43,091,133 (GRCm39)	T22A	possibly damaging	Het
Comp	A	T	8: 70,826,328 (GRCm39)		probably null	Het
Cop1	A	G	1: 159,134,195 (GRCm39)	K446E	probably damaging	Het
Cox18	T	C	5: 90,362,917 (GRCm39)	T314A	possibly damaging	Het
Csrp3	A	G	7: 48,485,317 (GRCm39)	V60A	probably benign	Het
Dnah8	A	T	17: 31,093,988 (GRCm39)	Y4694F	probably damaging	Het
Dnm1l	A	G	16: 16,139,510 (GRCm39)	Y493H	probably damaging	Het
Esf1	A	T	2: 139,967,011 (GRCm39)		probably null	Het
Fam187a	T	A	11: 102,776,832 (GRCm39)	V212E	probably damaging	Het
Fign	A	T	2: 63,810,301 (GRCm39)	M323K	possibly damaging	Het
Foxf2	A	G	13: 31,810,496 (GRCm39)	K145R	probably damaging	Het
Fxyd5	T	C	7: 30,734,829 (GRCm39)	N133D	probably benign	Het
Hnrnpdl	A	T	5: 100,185,482 (GRCm39)	L240*	probably null	Het
Kcna7	T	G	7: 45,058,679 (GRCm39)	F322C	probably damaging	Het
Lrrc14b	C	A	13: 74,511,321 (GRCm39)	C253F	probably benign	Het
Map3k11	T	C	19: 5,740,486 (GRCm39)	V71A	probably damaging	Het
Med13	C	A	11: 86,181,888 (GRCm39)	M1315I	probably benign	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Miox	G	T	15: 89,220,252 (GRCm39)	C148F	probably damaging	Het
Mpdz	A	T	4: 81,300,195 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,835,070 (GRCm39)		probably benign	Het
Myh15	G	A	16: 48,916,828 (GRCm39)	A383T	probably benign	Het
Nlrc5	A	G	8: 95,200,670 (GRCm39)	H117R	probably benign	Het
Ntrk1	A	T	3: 87,702,384 (GRCm39)	M23K	probably benign	Het
Or14c45	T	A	7: 86,176,349 (GRCm39)	L128H	probably damaging	Het
Or4c3d	T	A	2: 89,881,801 (GRCm39)	N289I	probably damaging	Het
Or8g21	T	A	9: 38,906,576 (GRCm39)	S52C	probably damaging	Het
Pkd1l3	A	G	8: 110,374,893 (GRCm39)		probably null	Het
Plcz1	A	T	6: 139,968,882 (GRCm39)	D185E	probably damaging	Het
Plekhg5	C	A	4: 152,196,985 (GRCm39)	Q757K	possibly damaging	Het
Prr23a2	T	A	9: 98,739,027 (GRCm39)	D128E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,416,712 (GRCm39)		probably null	Het
Sh3bp5	C	T	14: 31,100,246 (GRCm39)	V221M	probably benign	Het
Slc25a27	A	T	17: 43,975,083 (GRCm39)	D59E	probably benign	Het
Slc35e1	G	C	8: 73,246,358 (GRCm39)	R25G	unknown	Het
Slc4a4	T	C	5: 89,318,610 (GRCm39)	V626A	probably benign	Het
Slfn5	T	C	11: 82,847,529 (GRCm39)	L138P	probably damaging	Het
Stat1	A	G	1: 52,165,780 (GRCm39)		probably null	Het
Tnks2	G	T	19: 36,829,936 (GRCm39)	A206S	probably damaging	Het
Trav7-1	C	A	14: 52,892,521 (GRCm39)	Q25K	probably benign	Het
Ttn	A	G	2: 76,728,670 (GRCm39)	M5470T	unknown	Het
Vps35	A	T	8: 86,001,596 (GRCm39)	D407E	probably benign	Het
Wdr90	T	C	17: 26,079,676 (GRCm39)	D190G	probably benign	Het
Wdr93	T	A	7: 79,423,103 (GRCm39)	F456I	possibly damaging	Het
Wdr95	A	G	5: 149,529,758 (GRCm39)	E675G	probably benign	Het

Other mutations in Kcnj9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02094:Kcnj9	APN	1	172,153,275 (GRCm39)	missense	probably damaging	1.00
IGL02616:Kcnj9	APN	1	172,153,531 (GRCm39)	missense	probably damaging	1.00
R0131:Kcnj9	UTSW	1	172,153,765 (GRCm39)	missense	probably damaging	0.99
R0131:Kcnj9	UTSW	1	172,153,765 (GRCm39)	missense	probably damaging	0.99
R0132:Kcnj9	UTSW	1	172,153,765 (GRCm39)	missense	probably damaging	0.99
R0505:Kcnj9	UTSW	1	172,150,591 (GRCm39)	missense	probably benign	0.01
R0591:Kcnj9	UTSW	1	172,150,665 (GRCm39)	missense	probably damaging	0.98
R0726:Kcnj9	UTSW	1	172,153,488 (GRCm39)	missense	probably damaging	1.00
R1178:Kcnj9	UTSW	1	172,150,530 (GRCm39)	missense	probably benign	0.00
R1485:Kcnj9	UTSW	1	172,153,929 (GRCm39)	missense	probably benign	0.24
R1989:Kcnj9	UTSW	1	172,153,716 (GRCm39)	missense	probably benign	0.05
R5165:Kcnj9	UTSW	1	172,150,724 (GRCm39)	missense	probably benign	0.00
R6245:Kcnj9	UTSW	1	172,153,704 (GRCm39)	missense	probably damaging	1.00
R6344:Kcnj9	UTSW	1	172,153,713 (GRCm39)	missense	probably benign	0.01
R6903:Kcnj9	UTSW	1	172,153,623 (GRCm39)	missense	probably damaging	1.00
R8043:Kcnj9	UTSW	1	172,153,623 (GRCm39)	missense	probably damaging	1.00
R8251:Kcnj9	UTSW	1	172,154,089 (GRCm39)	missense	probably benign
R8682:Kcnj9	UTSW	1	172,153,680 (GRCm39)	missense	possibly damaging	0.79
R8896:Kcnj9	UTSW	1	172,153,360 (GRCm39)	missense	probably damaging	1.00
R9380:Kcnj9	UTSW	1	172,153,447 (GRCm39)	missense	probably benign	0.32
R9775:Kcnj9	UTSW	1	172,153,741 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnj9	UTSW	1	172,150,750 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- AGCCCACCATGAAAGCGTTC -3'
(R):5'- GGCACACCTTTATTAAGACCCCG -3'

Sequencing Primer
(F):5'- TTCACCATGGAGCCCAGGATAG -3'
(R):5'- CTTTATTAAGACCCCGCAGGATC -3'

Posted On

2019-06-26