Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03096:Kcnj15'

418576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnj15

Ensembl Gene

ENSMUSG00000062609

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 15

Synonyms

IRKK, Kir4.2, 4930414N08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03096

Quality Score

Status

Chromosome

Chromosomal Location

95058417-95101119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95097293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 305 (E305G)

Ref Sequence

ENSEMBL: ENSMUSP00000109493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037154] [ENSMUST00000113854] [ENSMUST00000113855] [ENSMUST00000113856] [ENSMUST00000113858] [ENSMUST00000113859] [ENSMUST00000113861] [ENSMUST00000113862] [ENSMUST00000152516] [ENSMUST00000134166] [ENSMUST00000138329] [ENSMUST00000140222] [ENSMUST00000125847]

AlphaFold

O88932

Predicted Effect

probably damaging
Transcript: ENSMUST00000037154
AA Change: E305G

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

SMART Domains

Protein: ENSMUSP00000045218
Gene: ENSMUSG00000062609
AA Change: E305G

Domain	Start	End	E-Value	Type
Pfam:IRK	57	384	4.4e-139	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113854
AA Change: E278G

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

SMART Domains

Protein: ENSMUSP00000109485
Gene: ENSMUSG00000062609
AA Change: E278G

Domain	Start	End	E-Value	Type
Pfam:IRK	30	365	2.5e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113855
AA Change: E278G

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

SMART Domains

Protein: ENSMUSP00000109486
Gene: ENSMUSG00000062609
AA Change: E278G

Domain	Start	End	E-Value	Type
Pfam:IRK	30	365	2.5e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113856
AA Change: E278G

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

SMART Domains

Protein: ENSMUSP00000109487
Gene: ENSMUSG00000062609
AA Change: E278G

Domain	Start	End	E-Value	Type
Pfam:IRK	30	365	2.5e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113858
AA Change: E278G

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

SMART Domains

Protein: ENSMUSP00000109489
Gene: ENSMUSG00000062609
AA Change: E278G

Domain	Start	End	E-Value	Type
Pfam:IRK	57	392	4.9e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113859
AA Change: E305G

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

SMART Domains

Protein: ENSMUSP00000109490
Gene: ENSMUSG00000062609
AA Change: E305G

Domain	Start	End	E-Value	Type
Pfam:IRK	57	392	4.9e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113861
AA Change: E305G

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

SMART Domains

Protein: ENSMUSP00000109492
Gene: ENSMUSG00000062609
AA Change: E305G

Domain	Start	End	E-Value	Type
Pfam:IRK	57	392	4.9e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113862
AA Change: E305G

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

SMART Domains

Protein: ENSMUSP00000109493
Gene: ENSMUSG00000062609
AA Change: E305G

Domain	Start	End	E-Value	Type
Pfam:IRK	57	392	4.9e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152516

Predicted Effect

probably benign
Transcript: ENSMUST00000134166

SMART Domains

Protein: ENSMUSP00000118992
Gene: ENSMUSG00000062609

Domain	Start	End	E-Value	Type
Pfam:IRK	57	173	8.9e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138329

Predicted Effect

probably benign
Transcript: ENSMUST00000140222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232622

Predicted Effect

probably benign
Transcript: ENSMUST00000125847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232605

Coding Region Coverage

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 has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous knockout mice exhibited impaired balance/coordination in a high-throughput screen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	G	11: 80,265,005 (GRCm39)	F149S	probably damaging	Het
Ablim2	A	T	5: 36,040,743 (GRCm39)	K103*	probably null	Het
Anapc4	C	T	5: 53,023,271 (GRCm39)	T704I	possibly damaging	Het
Ccar1	A	T	10: 62,600,112 (GRCm39)	D606E	probably benign	Het
Ces1d	T	C	8: 93,904,670 (GRCm39)	I357V	probably benign	Het
Col7a1	C	A	9: 108,784,856 (GRCm39)	P228H	unknown	Het
Dock4	A	G	12: 40,798,000 (GRCm39)	I875V	probably benign	Het
Fndc3a	A	T	14: 72,836,559 (GRCm39)	S67T	probably damaging	Het
Fras1	A	G	5: 96,912,760 (GRCm39)	T3355A	probably damaging	Het
Gtf3a	G	A	5: 146,890,763 (GRCm39)	R248Q	probably damaging	Het
Hcrtr2	T	A	9: 76,161,908 (GRCm39)	M161L	probably benign	Het
Il27ra	G	T	8: 84,758,161 (GRCm39)	L530M	probably damaging	Het
Map3k6	A	T	4: 132,978,656 (GRCm39)	K1086*	probably null	Het
Neb	T	C	2: 52,139,484 (GRCm39)	I3044V	possibly damaging	Het
Ntng1	A	T	3: 110,042,665 (GRCm39)	S54T	probably benign	Het
Or6c208	T	C	10: 129,224,318 (GRCm39)	V272A	probably damaging	Het
Pah	T	C	10: 87,374,104 (GRCm39)		probably null	Het
Pex3	A	T	10: 13,410,407 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,599,126 (GRCm39)		probably benign	Het
Pramel27	A	G	4: 143,577,485 (GRCm39)	D89G	probably benign	Het
Prl7c1	A	T	13: 27,957,689 (GRCm39)	D250E	probably damaging	Het
Prrc2c	C	T	1: 162,529,928 (GRCm39)	G144S	unknown	Het
Rad51c	A	G	11: 87,279,472 (GRCm39)	L304P	probably damaging	Het
Rnf20	A	C	4: 49,638,615 (GRCm39)		probably benign	Het
Six3	A	G	17: 85,929,365 (GRCm39)	N233S	possibly damaging	Het
Slc2a9	T	A	5: 38,508,572 (GRCm39)	I476F	probably damaging	Het
Trps1	A	C	15: 50,709,875 (GRCm39)	H154Q	probably benign	Het
Uvssa	T	C	5: 33,568,268 (GRCm39)	V552A	probably benign	Het
Vmn2r118	T	G	17: 55,914,996 (GRCm39)	N550T	probably damaging	Het
Vmn2r16	T	A	5: 109,487,751 (GRCm39)	I208K	probably damaging	Het

Other mutations in Kcnj15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Kcnj15	APN	16	95,097,322 (GRCm39)	missense	probably damaging	1.00
R1117:Kcnj15	UTSW	16	95,096,484 (GRCm39)	missense	probably benign	0.28
R3911:Kcnj15	UTSW	16	95,097,329 (GRCm39)	missense	probably damaging	1.00
R3913:Kcnj15	UTSW	16	95,097,329 (GRCm39)	missense	probably damaging	1.00
R3928:Kcnj15	UTSW	16	95,097,368 (GRCm39)	missense	possibly damaging	0.95
R4155:Kcnj15	UTSW	16	95,097,166 (GRCm39)	nonsense	probably null
R4613:Kcnj15	UTSW	16	95,096,653 (GRCm39)	missense	probably damaging	1.00
R5334:Kcnj15	UTSW	16	95,097,508 (GRCm39)	missense	probably damaging	1.00
R6151:Kcnj15	UTSW	16	95,096,527 (GRCm39)	nonsense	probably null
R6334:Kcnj15	UTSW	16	95,097,095 (GRCm39)	missense	probably damaging	1.00
R6446:Kcnj15	UTSW	16	95,097,118 (GRCm39)	missense	probably benign	0.00
R6727:Kcnj15	UTSW	16	95,097,193 (GRCm39)	missense	probably damaging	1.00
R7070:Kcnj15	UTSW	16	95,096,690 (GRCm39)	missense	probably damaging	1.00
R8348:Kcnj15	UTSW	16	95,096,609 (GRCm39)	missense	probably damaging	1.00
R8937:Kcnj15	UTSW	16	95,097,548 (GRCm39)	unclassified	probably benign
R9018:Kcnj15	UTSW	16	95,097,129 (GRCm39)	missense	probably damaging	1.00
R9167:Kcnj15	UTSW	16	95,096,741 (GRCm39)	missense	probably damaging	1.00
R9171:Kcnj15	UTSW	16	95,097,481 (GRCm39)	missense	probably benign
R9371:Kcnj15	UTSW	16	95,097,556 (GRCm39)	missense	unknown
R9760:Kcnj15	UTSW	16	95,096,483 (GRCm39)	missense	probably benign	0.13
Z1088:Kcnj15	UTSW	16	95,096,978 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02