Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Kcnj9'

47428

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

038700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172148075-172156889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172150591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 341 (A341T)

Ref Sequence

ENSEMBL: ENSMUSP00000141633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039506] [ENSMUST00000062387] [ENSMUST00000085912] [ENSMUST00000139528] [ENSMUST00000194204] [ENSMUST00000195659]

AlphaFold

P48543

Predicted Effect

probably benign
Transcript: ENSMUST00000039506

SMART Domains

Protein: ENSMUSP00000041232
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	32	147	1.38e-6	SMART
low complexity region	155	166	N/A	INTRINSIC
IG	169	285	2.3e-3	SMART
IG	309	433	9.49e-5	SMART
IG	445	571	3.59e-5	SMART
transmembrane domain	578	600	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062387
AA Change: A341T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026
AA Change: A341T

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 benign
Transcript: ENSMUST00000085912

SMART Domains

Protein: ENSMUSP00000083076
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
IG	32	147	1.38e-6	SMART
low complexity region	155	166	N/A	INTRINSIC
IG	169	285	2.3e-3	SMART
IG	309	433	9.49e-5	SMART
IG	445	571	3.59e-5	SMART
transmembrane domain	578	600	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139528

SMART Domains

Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
IG_like	19	84	3.66e1	SMART
low complexity region	92	103	N/A	INTRINSIC
IG	106	222	2.3e-3	SMART
IG	246	370	9.49e-5	SMART
IG	382	508	3.59e-5	SMART
transmembrane domain	515	537	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192957

Predicted Effect

probably benign
Transcript: ENSMUST00000194204
AA Change: A341T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026
AA Change: A341T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194860

Predicted Effect

probably benign
Transcript: ENSMUST00000194505

Predicted Effect

probably benign
Transcript: ENSMUST00000195659

SMART Domains

Protein: ENSMUSP00000141313
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
Blast:IG	1	67	2e-42	BLAST
SCOP:d1nkr_1	6	64	1e-3	SMART
transmembrane domain	74	96	N/A	INTRINSIC

Meta Mutation Damage Score

0.0863

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,241,058 (GRCm39)	Y974H	probably benign	Het
Abca2	G	T	2: 25,324,906 (GRCm39)	G300V	probably benign	Het
Abi1	A	G	2: 22,852,516 (GRCm39)		probably benign	Het
Actr10	T	A	12: 71,006,738 (GRCm39)	Y332N	probably damaging	Het
Adam25	G	T	8: 41,208,261 (GRCm39)	C509F	probably damaging	Het
Adck1	A	T	12: 88,338,461 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,166,676 (GRCm39)		probably null	Het
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Akr1c21	A	G	13: 4,626,306 (GRCm39)	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,019,566 (GRCm39)	I463V	probably null	Het
Atp6v1e2	C	T	17: 87,252,006 (GRCm39)	V131M	probably benign	Het
Bdnf	A	G	2: 109,505,688 (GRCm39)		probably null	Het
Bltp3b	T	C	10: 89,627,305 (GRCm39)	S145P	probably damaging	Het
C7	A	T	15: 5,023,624 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,419,114 (GRCm39)	T273A	probably benign	Het
Cdo1	T	A	18: 46,848,678 (GRCm39)	I187F	probably benign	Het
Cep104	A	T	4: 154,080,761 (GRCm39)	T742S	probably benign	Het
Ckm	A	T	7: 19,153,377 (GRCm39)	K223*	probably null	Het
Cmtr1	C	T	17: 29,895,259 (GRCm39)	P586L	probably benign	Het
Csmd1	C	T	8: 16,042,758 (GRCm39)	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,328,400 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,070,245 (GRCm39)	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Ebf2	A	T	14: 67,609,185 (GRCm39)	K199*	probably null	Het
Eeig2	T	C	3: 108,887,520 (GRCm39)	E248G	probably benign	Het
Efcab11	T	A	12: 99,685,294 (GRCm39)	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,261,517 (GRCm39)	S686T	probably benign	Het
Epha6	C	T	16: 60,026,095 (GRCm39)	S449N	possibly damaging	Het
Ercc4	T	C	16: 12,944,331 (GRCm39)	V329A	probably benign	Het
Faf1	T	C	4: 109,697,600 (GRCm39)	F309L	possibly damaging	Het
G6pd2	C	A	5: 61,966,910 (GRCm39)	D228E	probably benign	Het
Ggt1	T	G	10: 75,421,791 (GRCm39)	V546G	probably damaging	Het
Gpatch4	G	T	3: 87,958,524 (GRCm39)	V3F	probably damaging	Het
Gprin3	A	G	6: 59,330,372 (GRCm39)	L645P	probably damaging	Het
Hyal2	A	G	9: 107,449,270 (GRCm39)	Y342C	probably benign	Het
Igf2bp2	A	G	16: 21,907,849 (GRCm39)	I16T	possibly damaging	Het
Inca1	T	C	11: 70,581,025 (GRCm39)	Y61C	probably damaging	Het
Ipo5	T	C	14: 121,180,145 (GRCm39)	W860R	possibly damaging	Het
Kdm5b	T	C	1: 134,530,309 (GRCm39)	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,789,255 (GRCm39)		probably benign	Het
Lin54	G	A	5: 100,600,152 (GRCm39)	T307I	probably damaging	Het
Lrrc18	C	A	14: 32,731,096 (GRCm39)	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,393,851 (GRCm39)	S525P	probably benign	Het
Lrrc71	T	A	3: 87,653,006 (GRCm39)	S137C	probably damaging	Het
Lrrk1	A	T	7: 65,940,656 (GRCm39)		probably null	Het
Man2b2	G	A	5: 36,973,542 (GRCm39)	S58L	probably benign	Het
Masp1	T	A	16: 23,276,888 (GRCm39)	H539L	probably benign	Het
Med1	G	A	11: 98,047,730 (GRCm39)	P1022L	probably damaging	Het
Meis1	T	A	11: 18,961,360 (GRCm39)	H171L	probably damaging	Het
Mier1	T	A	4: 103,012,820 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,272,929 (GRCm39)	R96S	probably damaging	Het
Mms19	G	A	19: 41,942,173 (GRCm39)	T38I	probably damaging	Het
Mrc1	G	A	2: 14,314,843 (GRCm39)	C976Y	probably damaging	Het
Mrtfb	C	T	16: 13,230,390 (GRCm39)	T1025I	possibly damaging	Het
Naalad2	A	G	9: 18,297,191 (GRCm39)	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,183,085 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Nwd2	T	A	5: 63,962,454 (GRCm39)	D679E	probably damaging	Het
Ogdh	T	A	11: 6,289,936 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,330 (GRCm39)	S421T	possibly damaging	Het
Opn5	T	G	17: 42,903,844 (GRCm39)	T164P	possibly damaging	Het
Or4k37	A	T	2: 111,159,673 (GRCm39)	N303I	probably benign	Het
Or51a25	T	A	7: 102,373,236 (GRCm39)	I154F	probably damaging	Het
Or52a24	T	C	7: 103,381,583 (GRCm39)	V150A	probably benign	Het
Or5ak20	A	G	2: 85,184,093 (GRCm39)	M59T	possibly damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Pde7b	C	T	10: 20,314,492 (GRCm39)	V166M	probably damaging	Het
Peds1	A	T	2: 167,486,907 (GRCm39)		probably benign	Het
Pik3ap1	T	C	19: 41,313,003 (GRCm39)	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,814 (GRCm39)	D3913V	probably damaging	Het
Pld1	A	G	3: 28,174,971 (GRCm39)	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,326,656 (GRCm39)	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,179,054 (GRCm39)	M987K	probably benign	Het
Pmch	A	G	10: 87,927,221 (GRCm39)	N75D	probably benign	Het
Prom2	T	A	2: 127,374,787 (GRCm39)	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,299,288 (GRCm39)	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,293,569 (GRCm39)	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,516,789 (GRCm39)	T349S	probably benign	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rif1	C	A	2: 52,000,749 (GRCm39)	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,328,055 (GRCm39)		probably benign	Het
Rpn1	T	A	6: 88,067,224 (GRCm39)	S195T	probably benign	Het
Rslcan18	C	A	13: 67,250,183 (GRCm39)	K17N	probably benign	Het
Rsph3b	A	T	17: 7,209,126 (GRCm39)	I48N	probably damaging	Het
Sbf2	A	T	7: 109,998,550 (GRCm39)	Y628N	probably damaging	Het
Sis	T	C	3: 72,867,629 (GRCm39)	T139A	probably benign	Het
Slc22a14	A	G	9: 119,001,100 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,732,900 (GRCm39)	T372A	probably damaging	Het
Spidr	T	A	16: 15,855,531 (GRCm39)	H328L	probably damaging	Het
Sun5	T	A	2: 153,712,872 (GRCm39)	D16V	probably damaging	Het
Syde2	G	A	3: 145,720,135 (GRCm39)	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,146,238 (GRCm39)	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,794,195 (GRCm39)		probably benign	Het
Timm44	C	A	8: 4,310,532 (GRCm39)	E407*	probably null	Het
Tnpo2	A	G	8: 85,773,991 (GRCm39)	T342A	probably benign	Het
Trio	A	G	15: 27,767,993 (GRCm39)	C1964R	probably benign	Het
Trip11	A	C	12: 101,851,931 (GRCm39)	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,100,450 (GRCm39)	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,851,266 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,680,335 (GRCm39)		probably benign	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Unc5a	T	A	13: 55,152,767 (GRCm39)	S838T	probably damaging	Het
Uxs1	T	C	1: 43,804,046 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,096 (GRCm39)	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,309,599 (GRCm39)	G408R	probably damaging	Het
Zfp1004	T	A	2: 150,035,000 (GRCm39)	C471*	probably null	Het
Zfp609	G	A	9: 65,610,744 (GRCm39)	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,788,292 (GRCm39)	E341G	probably damaging	Het
Zfp707	A	T	15: 75,847,105 (GRCm39)	H312L	probably damaging	Het
Zfp773	T	C	7: 7,136,023 (GRCm39)	D191G	probably benign	Het
Zgrf1	C	A	3: 127,366,887 (GRCm39)	D755E	probably benign	Het
Zscan5b	T	A	7: 6,242,074 (GRCm39)	I431N	probably damaging	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
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
R7309:Kcnj9	UTSW	1	172,153,825 (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'- CACAGACAGACTGACACGTTCTCTC -3'
(R):5'- GAAGCTCGTACCTGGTGGATGAAG -3'

Sequencing Primer
(F):5'- ACTCGATCCTGGACTCAGC -3'
(R):5'- AAGTGTTGTGGGGCCACC -3'

Posted On

2013-06-12