Mutagenetix > Incidental Mutation

Incidental Mutation 'R9167:Kcnj15'

696143

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

068946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95058417-95101119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95096741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 121 (D121G)

Ref Sequence

ENSEMBL: ENSMUSP00000045218 (fasta)

Gene Model

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

AlphaFold

O88932

Predicted Effect

probably damaging
Transcript: ENSMUST00000037154
AA Change: D121G

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

SMART Domains

Protein: ENSMUSP00000045218
Gene: ENSMUSG00000062609
AA Change: D121G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113854
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000109485
Gene: ENSMUSG00000062609
AA Change: D94G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113855
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000109486
Gene: ENSMUSG00000062609
AA Change: D94G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113856
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000109487
Gene: ENSMUSG00000062609
AA Change: D94G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113858
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000109489
Gene: ENSMUSG00000062609
AA Change: D94G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113859
AA Change: D121G

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

SMART Domains

Protein: ENSMUSP00000109490
Gene: ENSMUSG00000062609
AA Change: D121G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113861
AA Change: D121G

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

SMART Domains

Protein: ENSMUSP00000109492
Gene: ENSMUSG00000062609
AA Change: D121G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113862
AA Change: D121G

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

SMART Domains

Protein: ENSMUSP00000109493
Gene: ENSMUSG00000062609
AA Change: D121G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125847

Predicted Effect

probably damaging
Transcript: ENSMUST00000134166
AA Change: D121G

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

SMART Domains

Protein: ENSMUSP00000118992
Gene: ENSMUSG00000062609
AA Change: D121G

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

probably benign
Transcript: ENSMUST00000152516

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 119,901,952 (GRCm39)	V815F	possibly damaging	Het
Abcb4	T	A	5: 8,986,849 (GRCm39)	L756*	probably null	Het
Acrbp	T	C	6: 125,039,942 (GRCm39)	L515P	probably damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Atic	T	A	1: 71,604,040 (GRCm39)	I201N	probably benign	Het
Avpr1b	T	C	1: 131,537,151 (GRCm39)	S312P	probably damaging	Het
Cables1	T	C	18: 12,039,029 (GRCm39)	V314A	possibly damaging	Het
Cd22	G	A	7: 30,575,430 (GRCm39)	T204I	probably benign	Het
Cep250	A	G	2: 155,828,920 (GRCm39)	N95D		Het
Ctla4	C	T	1: 60,951,695 (GRCm39)	R75W	probably damaging	Het
Cul7	A	G	17: 46,966,623 (GRCm39)	M649V	probably benign	Het
Ddx46	T	A	13: 55,802,915 (GRCm39)	V479E	probably null	Het
Dnah7a	T	C	1: 53,657,370 (GRCm39)	N802S	probably benign	Het
Fmn2	G	T	1: 174,331,056 (GRCm39)	R482L	unknown	Het
Fyn	T	G	10: 39,402,811 (GRCm39)	D194E	probably benign	Het
Hdac4	G	A	1: 91,875,256 (GRCm39)	T905M	probably benign	Het
Herc1	A	G	9: 66,411,900 (GRCm39)	I4707V	possibly damaging	Het
Hmgcs2	T	C	3: 98,204,430 (GRCm39)	I277T	possibly damaging	Het
Kcnt2	A	G	1: 140,506,200 (GRCm39)	E899G	probably benign	Het
Kif16b	A	T	2: 142,542,840 (GRCm39)	L152*	probably null	Het
Krt73	A	G	15: 101,702,405 (GRCm39)	V486A	probably benign	Het
Lrrc37a	T	A	11: 103,347,658 (GRCm39)	K3012N	unknown	Het
Musk	A	T	4: 58,296,687 (GRCm39)	I96F	probably benign	Het
Myrfl	A	G	10: 116,667,450 (GRCm39)	V330A	probably damaging	Het
Nanp	A	T	2: 150,872,728 (GRCm39)	C67S	probably benign	Het
Nlrp4e	A	G	7: 23,039,951 (GRCm39)	N758S	probably benign	Het
Nrxn3	T	A	12: 89,154,068 (GRCm39)	V345D	probably damaging	Het
Nsun7	G	A	5: 66,435,994 (GRCm39)	V289I	possibly damaging	Het
Or52d1	A	G	7: 103,756,426 (GRCm39)	*313W	probably null	Het
Pde4a	T	C	9: 21,102,798 (GRCm39)	S161P	probably benign	Het
Pom121l2	C	T	13: 22,167,160 (GRCm39)	A477V	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Ryr3	A	T	2: 112,664,398 (GRCm39)	I1651N	probably damaging	Het
Serpinb6e	A	G	13: 34,023,009 (GRCm39)	F125L	possibly damaging	Het
Slc2a9	T	A	5: 38,549,092 (GRCm39)	T341S	probably damaging	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tasor2	A	G	13: 3,624,724 (GRCm39)	V1742A	probably benign	Het
Tlx2	T	A	6: 83,046,042 (GRCm39)	K211*	probably null	Het
Tmem266	A	G	9: 55,322,231 (GRCm39)	D174G	probably damaging	Het
Tpm3	T	A	3: 89,994,824 (GRCm39)	I147N	probably benign	Het
Unc93a	T	C	17: 13,335,108 (GRCm39)	K313E	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,138 (GRCm39)	E71A	probably benign	Het
Vwa2	T	A	19: 56,899,063 (GRCm39)	D754E	probably benign	Het
Zfp677	T	C	17: 21,613,460 (GRCm39)	V18A	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
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
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'- TGGGCACAGTAATGTGAGAATC -3'
(R):5'- TTTTAGCCAGAAAGGTCCCCG -3'

Sequencing Primer
(F):5'- CGATAAGGTAGACGGAATCTATTTAC -3'
(R):5'- TTTAGCCAGAAAGGTCCCCGTAATG -3'

Posted On

2022-02-07