Mutagenetix > Incidental Mutation

Incidental Mutation 'R3928:Kcnj15'

308389

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

040823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95058417-95101119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95097368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 330 (E330G)

Ref Sequence

ENSEMBL: ENSMUSP00000109493 (fasta)

Gene Model

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

AlphaFold

O88932

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037154
AA Change: E330G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045218
Gene: ENSMUSG00000062609
AA Change: E330G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113854
AA Change: E303G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109485
Gene: ENSMUSG00000062609
AA Change: E303G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113855
AA Change: E303G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109486
Gene: ENSMUSG00000062609
AA Change: E303G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113856
AA Change: E303G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109487
Gene: ENSMUSG00000062609
AA Change: E303G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113858
AA Change: E303G

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109489
Gene: ENSMUSG00000062609
AA Change: E303G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113859
AA Change: E330G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109490
Gene: ENSMUSG00000062609
AA Change: E330G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113861
AA Change: E330G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109492
Gene: ENSMUSG00000062609
AA Change: E330G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113862
AA Change: E330G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109493
Gene: ENSMUSG00000062609
AA Change: E330G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232622

Predicted Effect

probably benign
Transcript: ENSMUST00000140222

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: ENSMUST00000125847

Predicted Effect

probably benign
Transcript: ENSMUST00000138329

Meta Mutation Damage Score

0.0679

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	T	11: 76,359,561 (GRCm39)	H181Q	probably benign	Het
Atrx	T	C	X: 104,923,523 (GRCm39)	I157V	possibly damaging	Het
Birc6	A	G	17: 74,918,170 (GRCm39)	D1856G	possibly damaging	Het
Birc6	A	G	17: 74,945,404 (GRCm39)	T2811A	probably damaging	Het
Brsk2	T	C	7: 141,552,155 (GRCm39)	F108S	probably damaging	Het
Clasp2	C	A	9: 113,735,173 (GRCm39)	H1004N	probably benign	Het
Cntd1	G	A	11: 101,178,345 (GRCm39)	V315I	probably benign	Het
Col13a1	A	G	10: 61,703,304 (GRCm39)		probably benign	Het
Ctps1	T	A	4: 120,399,093 (GRCm39)	H553L	probably benign	Het
Dpysl2	A	G	14: 67,061,880 (GRCm39)	I242T	possibly damaging	Het
Exoc3l	C	T	8: 106,017,549 (GRCm39)		probably benign	Het
Fam229a	A	G	4: 129,385,204 (GRCm39)		probably benign	Het
Fshr	C	T	17: 89,292,962 (GRCm39)	R572H	probably damaging	Het
Gm5501	A	G	18: 9,917,267 (GRCm39)		noncoding transcript	Het
Gmpr	A	G	13: 45,683,223 (GRCm39)	I165V	probably benign	Het
Gnat3	G	A	5: 18,208,892 (GRCm39)		probably benign	Het
H1f8	A	G	6: 115,925,757 (GRCm39)	K185E	probably benign	Het
H2-Q4	T	G	17: 35,598,666 (GRCm39)	L16R	unknown	Het
Hs2st1	T	C	3: 144,140,389 (GRCm39)	K311E	possibly damaging	Het
Kif3a	A	G	11: 53,461,441 (GRCm39)	K29E	probably benign	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Lmntd2	C	T	7: 140,791,117 (GRCm39)	G432S	probably damaging	Het
Me3	T	C	7: 89,482,898 (GRCm39)		probably benign	Het
Myo1d	G	T	11: 80,375,087 (GRCm39)	R996S	probably benign	Het
Myo9a	T	A	9: 59,802,566 (GRCm39)	W2018R	probably damaging	Het
Nphp3	G	T	9: 103,888,929 (GRCm39)	V265F	probably damaging	Het
Or10ak9	T	C	4: 118,726,179 (GRCm39)	L66P	probably damaging	Het
Or5p67	A	G	7: 107,922,232 (GRCm39)	I217T	probably benign	Het
Or8c16	T	C	9: 38,130,131 (GRCm39)	M1T	probably null	Het
Pgp	A	G	17: 24,690,315 (GRCm39)	E247G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plch1	G	A	3: 63,675,044 (GRCm39)	A202V	probably damaging	Het
Rbm11	G	A	16: 75,389,932 (GRCm39)		probably null	Het
Scg5	T	C	2: 113,622,230 (GRCm39)	K124R	probably damaging	Het
Serpina3j	A	T	12: 104,285,916 (GRCm39)	H357L	probably damaging	Het
St6gal2	A	G	17: 55,803,324 (GRCm39)	D353G	possibly damaging	Het
Tdpoz3	T	C	3: 93,734,216 (GRCm39)	I297T	possibly damaging	Het
Tdrd5	G	A	1: 156,128,348 (GRCm39)	T136I	probably benign	Het
Tfcp2l1	T	A	1: 118,597,206 (GRCm39)	I429K	possibly damaging	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Top1	T	C	2: 160,529,669 (GRCm39)		probably benign	Het
Trim61	A	G	8: 65,465,969 (GRCm39)	F431L	probably benign	Het
Trmo	C	T	4: 46,382,647 (GRCm39)	G150S	probably damaging	Het
Vmn1r183	T	C	7: 23,754,997 (GRCm39)	S267P	probably damaging	Het
Xirp2	T	A	2: 67,342,013 (GRCm39)	F1418Y	possibly damaging	Het
Zfp114	T	C	7: 23,880,467 (GRCm39)	V271A	possibly damaging	Het
Zfp710	A	G	7: 79,731,134 (GRCm39)	R104G	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAATTCCACGTGGACTCCTC -3'
(R):5'- AGTCAGACATTGCTCTGCTG -3'

Sequencing Primer
(F):5'- GTGGACTCCTCTTCCGAGAGTC -3'
(R):5'- AGGCTCCTCAGCTCCCG -3'

Posted On

2015-04-17