Mutagenetix > Incidental Mutation

Incidental Mutation 'R6446:Kcnj15'

519208

Institutional Source

Beutler Lab

Gene Symbol

Kcnj15

Ensembl Gene

ENSMUSG00000062609

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 15

Synonyms

IRKK, Kir4.2, 4930414N08Rik

MMRRC Submission

044583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95058417-95101119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95097118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 247 (H247Y)

Ref Sequence

ENSEMBL: ENSMUSP00000109493 (fasta)

Gene Model

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

AlphaFold

O88932

Predicted Effect

probably benign
Transcript: ENSMUST00000037154
AA Change: H247Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045218
Gene: ENSMUSG00000062609
AA Change: H247Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113854
AA Change: H220Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109485
Gene: ENSMUSG00000062609
AA Change: H220Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113855
AA Change: H220Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109486
Gene: ENSMUSG00000062609
AA Change: H220Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113856
AA Change: H220Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109487
Gene: ENSMUSG00000062609
AA Change: H220Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113858
AA Change: H220Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109489
Gene: ENSMUSG00000062609
AA Change: H220Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113859
AA Change: H247Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109490
Gene: ENSMUSG00000062609
AA Change: H247Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113861
AA Change: H247Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109492
Gene: ENSMUSG00000062609
AA Change: H247Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113862
AA Change: H247Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109493
Gene: ENSMUSG00000062609
AA Change: H247Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232622

Predicted Effect

probably benign
Transcript: ENSMUST00000125847

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: ENSMUST00000152516

Predicted Effect

probably benign
Transcript: ENSMUST00000140222

Meta Mutation Damage Score

0.0995

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

97% (36/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a3	A	G	16: 30,180,687 (GRCm39)	L114P	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,905,992 (GRCm39)	I196V	probably benign	Het
Cbx2	T	A	11: 118,918,752 (GRCm39)	S106T	probably benign	Het
Ccar2	T	A	14: 70,380,518 (GRCm39)	E354V	probably benign	Het
Ccr1	A	G	9: 123,764,143 (GRCm39)	I129T	probably damaging	Het
Cdkl2	T	A	5: 92,181,076 (GRCm39)	I188F	probably damaging	Het
Cep350	T	C	1: 155,737,900 (GRCm39)	N2648D	probably benign	Het
Chtf18	A	G	17: 25,940,218 (GRCm39)	S658P	probably benign	Het
Csnka2ip	G	A	16: 64,299,744 (GRCm39)	Q207*	probably null	Het
Dennd5a	A	G	7: 109,493,873 (GRCm39)	L1253P	probably damaging	Het
Dennd6a	T	A	14: 26,350,689 (GRCm39)	I374K	probably damaging	Het
Dut	T	C	2: 125,092,939 (GRCm39)		probably null	Het
Gcm1	T	C	9: 77,967,065 (GRCm39)	Y95H	probably benign	Het
Grid2	A	T	6: 64,322,577 (GRCm39)	I526F	probably damaging	Het
Hectd4	T	A	5: 121,472,438 (GRCm39)	Y2725N	possibly damaging	Het
Helq	A	T	5: 100,916,250 (GRCm39)	N907K	possibly damaging	Het
Hpse	G	A	5: 100,843,435 (GRCm39)	Q246*	probably null	Het
Iigp1c	A	G	18: 60,378,840 (GRCm39)	D125G	probably damaging	Het
Kif27	C	A	13: 58,493,530 (GRCm39)	V138F	probably damaging	Het
Map7	T	G	10: 20,153,979 (GRCm39)	D698E	unknown	Het
Mtmr11	A	T	3: 96,078,504 (GRCm39)	S687C	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Nup210l	G	A	3: 90,079,375 (GRCm39)	G953E	probably damaging	Het
Or14c45	T	A	7: 86,176,310 (GRCm39)	I115N	possibly damaging	Het
Piezo2	G	T	18: 63,219,678 (GRCm39)	P792T	probably damaging	Het
Pld3	T	C	7: 27,237,156 (GRCm39)	D241G	probably damaging	Het
Prss35	G	T	9: 86,637,706 (GRCm39)	V159F	probably damaging	Het
Rimbp3	A	T	16: 17,030,793 (GRCm39)	M1406L	probably benign	Het
Serpina3g	T	C	12: 104,205,341 (GRCm39)	F27L	probably damaging	Het
Setd1b	G	A	5: 123,299,862 (GRCm39)		probably benign	Het
Sh3glb1	T	C	3: 144,411,366 (GRCm39)	K13E	probably damaging	Het
Slc29a1	A	T	17: 45,900,171 (GRCm39)	I217N	possibly damaging	Het
Spag17	A	T	3: 100,010,448 (GRCm39)	T1981S	probably benign	Het
Svil	A	C	18: 5,057,323 (GRCm39)	E590D	probably benign	Het
Synm	A	G	7: 67,384,714 (GRCm39)	S541P	probably damaging	Het
Vmn2r108	A	T	17: 20,692,609 (GRCm39)	Y82*	probably null	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
IGL03096:Kcnj15	APN	16	95,097,293 (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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCATCACCACATTGATTGAG -3'
(R):5'- GCGTTGAGAAGTACCACCAG -3'

Sequencing Primer
(F):5'- ATTGAGATCTTCATTACGGGGACC -3'
(R):5'- GTTGAGAAGTACCACCAGCTCAAAC -3'

Posted On

2018-05-24