Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00960:Kcnj5'

28227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnj5

Ensembl Gene

ENSMUSG00000032034

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 5

Synonyms

GIRK4, Kir3.4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00960

Quality Score

Status

Chromosome

Chromosomal Location

32314707-32344350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32322423 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 199 (T199S)

Ref Sequence

ENSEMBL: ENSMUSP00000149000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034533] [ENSMUST00000214223] [ENSMUST00000216033]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034533
AA Change: T199S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: T199S

Domain	Start	End	E-Value	Type
Pfam:IRK	54	377	7e-147	PFAM
low complexity region	387	405	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000214223
AA Change: T199S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000216033

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, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit mild resting tachycardias and reduced muscarinic-gated atrial potassium channel responses to pharmacological stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,323,745	R444L	probably damaging	Het
Baiap2	T	A	11: 119,999,292	S460T	possibly damaging	Het
Cckar	A	G	5: 53,701,292	Y158H	probably damaging	Het
Cdk4	A	G	10: 127,064,297	Y21C	probably damaging	Het
Entpd1	C	T	19: 40,711,270	P42S	probably benign	Het
Epha8	A	T	4: 136,951,839		probably null	Het
Fastkd1	A	T	2: 69,694,653		probably benign	Het
Fmnl2	A	G	2: 53,123,482	D951G	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Med13	T	C	11: 86,291,040		probably benign	Het
Mycbp2	G	T	14: 103,229,384	H1314Q	possibly damaging	Het
Ncapd2	A	T	6: 125,173,848	S795T	probably benign	Het
Nf1	T	C	11: 79,445,121	S1042P	probably damaging	Het
Nlgn1	C	A	3: 25,912,697	L197F	probably damaging	Het
Nsun7	A	G	5: 66,289,503	Y428C	probably benign	Het
Olfr976	A	G	9: 39,956,159	Y259H	probably damaging	Het
Parp14	T	C	16: 35,841,219	D1453G	probably benign	Het
Pcdhb8	A	T	18: 37,355,973	I235F	probably benign	Het
Pclo	T	C	5: 14,675,220	V1364A	unknown	Het
Polq	T	C	16: 37,060,512	S734P	probably damaging	Het
Sco1	T	C	11: 67,064,038	*290Q	probably null	Het
Slc22a3	A	T	17: 12,425,610	I496N	probably damaging	Het
Slc5a8	T	G	10: 88,921,765	I539S	probably benign	Het
Tecta	A	G	9: 42,359,080	F1311L	possibly damaging	Het
Tex261	A	T	6: 83,775,668	I19N	possibly damaging	Het
Tfr2	T	C	5: 137,571,692	V120A	probably benign	Het
Vmn2r71	A	T	7: 85,624,374	S799C	probably damaging	Het
Zar1	G	A	5: 72,577,285	T197I	probably damaging	Het
Zfa-ps	A	G	10: 52,543,947		noncoding transcript	Het

Other mutations in Kcnj5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Kcnj5	APN	9	32322629	missense	probably damaging	1.00
IGL02250:Kcnj5	APN	9	32317756	missense	probably damaging	1.00
IGL02683:Kcnj5	APN	9	32317780	missense	possibly damaging	0.94
IGL02981:Kcnj5	APN	9	32322581	missense	probably damaging	1.00
R0388:Kcnj5	UTSW	9	32317863	missense	probably damaging	1.00
R0464:Kcnj5	UTSW	9	32322973	missense	possibly damaging	0.87
R0524:Kcnj5	UTSW	9	32322974	missense	probably benign	0.16
R1711:Kcnj5	UTSW	9	32322569	missense	probably damaging	1.00
R1730:Kcnj5	UTSW	9	32322192	missense	probably damaging	1.00
R1783:Kcnj5	UTSW	9	32322192	missense	probably damaging	1.00
R2203:Kcnj5	UTSW	9	32322900	missense	probably benign	0.43
R2424:Kcnj5	UTSW	9	32322820	missense	probably damaging	1.00
R3701:Kcnj5	UTSW	9	32317828	missense	possibly damaging	0.95
R4459:Kcnj5	UTSW	9	32322395	missense	probably damaging	1.00
R4657:Kcnj5	UTSW	9	32322677	missense	probably benign
R5422:Kcnj5	UTSW	9	32317705	missense	probably benign	0.00
R6073:Kcnj5	UTSW	9	32317800	missense	probably damaging	1.00
R7185:Kcnj5	UTSW	9	32322176	missense	probably damaging	1.00
R7289:Kcnj5	UTSW	9	32322749	missense	probably damaging	1.00
R7294:Kcnj5	UTSW	9	32322749	missense	probably damaging	1.00
R7295:Kcnj5	UTSW	9	32322791	missense	probably damaging	1.00
R7296:Kcnj5	UTSW	9	32322749	missense	probably damaging	1.00
R7450:Kcnj5	UTSW	9	32322195	missense	possibly damaging	0.52
R7688:Kcnj5	UTSW	9	32322968	missense	probably benign	0.00
R7911:Kcnj5	UTSW	9	32322221	missense	probably damaging	1.00
R8506:Kcnj5	UTSW	9	32322332	missense	probably damaging	1.00
Z1177:Kcnj5	UTSW	9	32317698	missense	possibly damaging	0.85

Posted On

2013-04-17