Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02981:Kcnj5'

406546

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 #

IGL02981

Quality Score

Status

Chromosome

Chromosomal Location

32314707-32344350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32322581 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 146 (T146I)

Ref Sequence

ENSEMBL: ENSMUSP00000149000 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034533
AA Change: T146I

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

SMART Domains

Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: T146I

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: T146I

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	T	C	16: 92,320,869	N177S	probably benign	Het
Abhd12	A	G	2: 150,833,124	S392P	probably benign	Het
Adam23	G	A	1: 63,570,953	V705I	probably damaging	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Ank2	T	G	3: 126,934,562	D794A	possibly damaging	Het
Aqr	T	C	2: 114,134,824		probably benign	Het
Atp9b	A	G	18: 80,754,289	V857A	possibly damaging	Het
Banp	T	C	8: 121,978,564	Y58H	possibly damaging	Het
Cacna1e	T	A	1: 154,471,425	N999Y	probably benign	Het
Cd14	T	C	18: 36,726,479		probably benign	Het
Crmp1	T	C	5: 37,286,426	I447T	probably damaging	Het
Dip2a	A	G	10: 76,276,421	V1090A	possibly damaging	Het
Ep400	T	A	5: 110,691,610		probably benign	Het
Ep400	T	A	5: 110,756,103	H210L	possibly damaging	Het
Fbxw26	A	G	9: 109,744,794	F97L	probably benign	Het
Fut8	C	A	12: 77,475,038	P484T	probably damaging	Het
Golph3	A	G	15: 12,349,464	E190G	probably benign	Het
Hectd1	A	T	12: 51,768,887	D1472E	possibly damaging	Het
Hnrnpdl	T	C	5: 100,037,099	I298V	possibly damaging	Het
Jakmip2	C	A	18: 43,562,530		probably null	Het
Lyst	T	G	13: 13,634,911	F389V	probably damaging	Het
Myo1b	A	G	1: 51,778,373	S577P	probably damaging	Het
Myo3b	T	C	2: 70,108,625	V114A	probably damaging	Het
Olfr714	C	A	7: 107,074,551	T241N	probably damaging	Het
Pappa2	C	T	1: 158,851,144	G901R	probably benign	Het
Patz1	T	C	11: 3,290,656	Y15H	probably damaging	Het
Pdp2	T	C	8: 104,593,635	W39R	probably benign	Het
Poc5	T	C	13: 96,401,757		probably null	Het
Pou3f1	A	G	4: 124,658,443	D246G	probably damaging	Het
Pramel5	T	A	4: 144,272,860	Y219F	probably benign	Het
Prrc2c	C	T	1: 162,705,179		probably benign	Het
Ptpn13	A	G	5: 103,528,804	K678E	probably damaging	Het
Rps2	T	C	17: 24,721,724	F271L	probably benign	Het
Serpina3k	C	A	12: 104,340,991	Q161K	probably benign	Het
Serpinb6b	A	G	13: 32,971,606	T101A	probably benign	Het
Tprkb	T	A	6: 85,927,879	D112E	probably benign	Het
Tubal3	A	G	13: 3,933,257	T346A	probably benign	Het
Vwde	A	G	6: 13,193,113	F409S	possibly damaging	Het
Zbtb6	G	A	2: 37,429,164	Q251*	probably null	Het

Other mutations in Kcnj5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Kcnj5	APN	9	32322423	missense	probably damaging	1.00
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
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
R7992:Kcnj5	UTSW	9	32322221	missense	probably damaging	1.00
Z1177:Kcnj5	UTSW	9	32317698	missense	not run

Posted On

2016-08-02