Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:Kcnj5'

104432

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 #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

32314707-32344350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32322629 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 130 (V130A)

Ref Sequence

ENSEMBL: ENSMUSP00000149000 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034533
AA Change: V130A

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

SMART Domains

Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: V130A

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: V130A

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Kcnj5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Kcnj5	APN	9	32322423	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
Z1177:Kcnj5	UTSW	9	32317698	missense	possibly damaging	0.85

Posted On

2014-01-21