Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Kcnj6'

436563

Institutional Source

Beutler Lab

Gene Symbol

Kcnj6

Ensembl Gene

ENSMUSG00000043301

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 6

Synonyms

KCNJ7, GIRK2, Kir3.2

MMRRC Submission

043117-MU

Accession Numbers

Genbank: NM_001025584.2, NM_001025585.2, NM_001025590.1, NM_010606.2

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94748636-94997701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94832965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 96 (L96M)

Ref Sequence

ENSEMBL: ENSMUSP00000093558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095873] [ENSMUST00000099508] [ENSMUST00000165538] [ENSMUST00000232562]

AlphaFold

no structure available at present

PDB Structure

Crystal Structure of the Cytoplasmic Domain of G-Protein-Gated Inward Rectifier Potassium Channel Kir3.2 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000095873
AA Change: L96M

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: L96M

Domain	Start	End	E-Value	Type
Pfam:IRK	59	397	9.3e-166	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099508
AA Change: L96M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: L96M

Domain	Start	End	E-Value	Type
Pfam:IRK	59	382	8.5e-146	PFAM
low complexity region	396	411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165538
AA Change: L78M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000130321
Gene: ENSMUSG00000043301
AA Change: L78M

Domain	Start	End	E-Value	Type
Pfam:IRK	41	302	5.3e-122	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232403

Predicted Effect

probably benign
Transcript: ENSMUST00000232562
AA Change: L78M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
PHENOTYPE: A spontaneous mutation exhibits small size, ataxia, hypotonia, high periweaning mortality, Purkinje cell defects, and male sterility. Homozygotes for a targeted null mutation exhibit increased susceptibility to spontaneous and drug-induced seizures. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(1) Spontaneous(1)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,426,040	W188R	possibly damaging	Het
Agrn	T	C	4: 156,178,497	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,383,490	S570P	probably benign	Het
Ano9	C	G	7: 141,110,482	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,634,437	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,774,358	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,426,575	D40E	possibly damaging	Het
Capn12	A	G	7: 28,882,860	D133G	probably benign	Het
Ccna1	A	T	3: 55,048,569	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,741,413	Y250N	probably damaging	Het
Cep112	A	C	11: 108,437,235	K98Q	probably damaging	Het
Chst13	T	C	6: 90,318,269	D54G	probably damaging	Het
Clstn2	G	T	9: 97,469,819	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,182,435	L581M	probably damaging	Het
Cog3	T	A	14: 75,729,393	M446L	probably damaging	Het
D430042O09Rik	T	C	7: 125,854,561	V1150A	probably benign	Het
Dennd2c	T	A	3: 103,161,555	I756K	probably damaging	Het
Dennd3	T	G	15: 73,532,895	L273R	probably damaging	Het
Dhx34	C	A	7: 16,218,541	R53L	probably benign	Het
Dnah9	G	A	11: 65,881,740	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dusp6	A	G	10: 99,266,241	Y217C	probably damaging	Het
Dyrk1b	G	A	7: 28,184,253	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,686,895	C1009S	probably benign	Het
Fam198a	T	C	9: 121,978,223	F478L	possibly damaging	Het
Frmpd1	A	T	4: 45,243,697	T57S	probably damaging	Het
Gjc2	A	G	11: 59,177,359	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,709,092		probably benign	Het
Gpr158	A	G	2: 21,826,290	I734V	possibly damaging	Het
Herc1	A	T	9: 66,451,119	H2494L	probably benign	Het
Hist1h1c	A	G	13: 23,739,407	S187G	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmgcs1	A	G	13: 119,699,815		probably null	Het
Invs	A	T	4: 48,416,084	T655S	probably benign	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Lfng	A	G	5: 140,614,267	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,196,872	L139P	probably damaging	Het
Madd	C	A	2: 91,163,545	V923L	probably damaging	Het
Mfsd7a	A	T	5: 108,448,863	M1K	probably null	Het
Mical1	A	T	10: 41,478,965	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,152,816	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,195,535	K6R	probably benign	Het
Mug1	T	A	6: 121,861,073	C421S	probably damaging	Het
Myo18b	A	G	5: 112,868,295	I696T	probably damaging	Het
Naf1	T	C	8: 66,883,545	Y375H	probably damaging	Het
Nsf	T	A	11: 103,863,255	E485V	possibly damaging	Het
Nup188	A	G	2: 30,309,885	D307G	probably damaging	Het
Ocel1	C	A	8: 71,372,478	P108T	probably damaging	Het
Oip5	A	G	2: 119,613,059	S177P	probably damaging	Het
Olfr1436	G	A	19: 12,298,644	Q163*	probably null	Het
Olfr365	A	G	2: 37,201,930	I230V	probably benign	Het
Olfr51	A	C	11: 51,007,523	I184L	possibly damaging	Het
Olfr943	A	C	9: 39,184,184	E2A	probably benign	Het
Omg	A	G	11: 79,501,758	W425R	possibly damaging	Het
Pikfyve	A	G	1: 65,253,407	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,922,949	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,395,415	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,655,501	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,391,712	P91S	probably damaging	Het
Rnf10	A	G	5: 115,249,998	F367S	probably damaging	Het
Rnft1	A	T	11: 86,493,196	R307S	probably benign	Het
Ryr3	A	T	2: 112,754,877	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,846,224	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,560,286	A123E	probably damaging	Het
Setd2	T	A	9: 110,549,839	Y623*	probably null	Het
Tbl2	C	T	5: 135,157,591	Q216*	probably null	Het
Thegl	A	G	5: 77,016,486	D112G	possibly damaging	Het
Tnc	A	G	4: 64,008,709	I860T	probably damaging	Het
Trafd1	T	C	5: 121,373,303	K484R	possibly damaging	Het
Trank1	T	C	9: 111,390,567	V2124A	probably damaging	Het
Trpm4	A	T	7: 45,310,332	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,362,676	T451A	probably benign	Het
Uba6	A	T	5: 86,131,260	C668S	probably damaging	Het
Ubxn11	T	C	4: 134,126,624	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,900,738	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,942	I90L	probably damaging	Het
Wdr60	T	C	12: 116,218,113	S769G	probably damaging	Het
Zfp330	T	C	8: 82,764,956	E196G	probably benign	Het
Zfp746	A	G	6: 48,082,174	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,201,713	E85G	possibly damaging	Het

Other mutations in Kcnj6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Kcnj6	APN	16	94832455	missense	probably damaging	0.99
IGL01433:Kcnj6	APN	16	94832955	missense	probably benign	0.21
IGL01603:Kcnj6	APN	16	94833199	missense	probably benign	0.00
IGL02212:Kcnj6	APN	16	94832487	missense	probably damaging	1.00
IGL02982:Kcnj6	APN	16	94832517	missense	possibly damaging	0.89
IGL03351:Kcnj6	APN	16	94832583	missense	probably damaging	1.00
Seizure	UTSW	16	94832659	missense	probably damaging	1.00
H8477:Kcnj6	UTSW	16	94832937	missense	probably damaging	1.00
IGL02796:Kcnj6	UTSW	16	94832919	missense	probably benign	0.00
R0070:Kcnj6	UTSW	16	94941197	missense	probably benign
R1558:Kcnj6	UTSW	16	94762499	missense	possibly damaging	0.57
R1676:Kcnj6	UTSW	16	94832584	missense	probably damaging	1.00
R2435:Kcnj6	UTSW	16	94762679	missense	probably damaging	0.99
R3700:Kcnj6	UTSW	16	94833006	missense	probably damaging	0.96
R3800:Kcnj6	UTSW	16	94833027	missense	probably damaging	1.00
R4012:Kcnj6	UTSW	16	94825018	splice site	probably null
R4899:Kcnj6	UTSW	16	94832613	missense	probably damaging	1.00
R5124:Kcnj6	UTSW	16	94832659	missense	probably damaging	1.00
R5359:Kcnj6	UTSW	16	94832453	nonsense	probably null
R5583:Kcnj6	UTSW	16	94833201	missense	probably benign	0.26
R6057:Kcnj6	UTSW	16	94832377	missense	probably damaging	1.00
R6330:Kcnj6	UTSW	16	94762601	missense	possibly damaging	0.93
R6582:Kcnj6	UTSW	16	94832826	missense	possibly damaging	0.93
R6604:Kcnj6	UTSW	16	94762645	missense	probably damaging	1.00
R6802:Kcnj6	UTSW	16	94762577	missense	probably benign	0.06
R6866:Kcnj6	UTSW	16	94762677	missense	probably damaging	1.00
R7304:Kcnj6	UTSW	16	94941183	missense	probably benign
R7337:Kcnj6	UTSW	16	94833214	missense	probably benign	0.10
R7396:Kcnj6	UTSW	16	94762447	missense	probably benign	0.31
R8543:Kcnj6	UTSW	16	94762391	missense	possibly damaging	0.73
R9614:Kcnj6	UTSW	16	94832448	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGATGACCCGGTAGCCATAAC -3'
(R):5'- ACCAGCCAAAGTTGCCTAAG -3'

Sequencing Primer
(F):5'- CCGGTAGCCATAACCGATG -3'
(R):5'- CTAAGCAGGCCAGGGACGAC -3'

Posted On

2016-10-24