Kcnj5 - SNV Details



 Human Rare Diseases 
Familial hyperaldosteronism type 3
Romano-Ward syndrome

 Gene Information 
Gene Name Kcnj5
Gene Description potassium inwardly-rectifying channel, subfamily J, member 5 [Source:MGI Symbol;Acc:MGI:104755]
MGI phenotype Homozygotes for a targeted null mutation exhibit mild resting tachycardias and reduced muscarinic-gated atrial potassium channel responses to pharmacological stimulation.
Uniprot Name
CCDS Name
Gene GO
G-protein activated inward rectifier potassium channel activity
T-tubule
external side of plasma membrane
integral to membrane
inward rectifier potassium channel activity
ion transport
membrane
plasma membrane
potassium ion transport
protein binding
voltage-gated ion channel activity
Homolog in other species KCNJ5
Omim http://omim.org/entry/600734
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN IMM.G2, SPLEEN)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032034
Chromosome 9
Coordinate 32,322,423     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Tcc
Var Base A
Zygosity Heterozygous
Read Depth 41
Allele Frequency
T:0.34
A:0.66
Amino Acid Position 199
Amino Acid Change T->S (Threonine -> Serine)
Sample ID IGL00960
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000034533:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Potassium channel, inwardly rectifying, Kir K_chnl_inward-rec_Kir IPR016449 ENSMUSP00000034533 PIRSF 27
417 Description available Search pathways
Potassium channel, inwardly rectifying, Kir K_chnl_inward-rec_Kir IPR016449 ENSMUSP00000034533 Pfam 54
375 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved