Incidental Mutation 'IGL01700:Kcnj5'
ID104432
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj5
Ensembl Gene ENSMUSG00000032034
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 5
SynonymsGIRK4, Kir3.4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01700
Quality Score
Status
Chromosome9
Chromosomal Location32314707-32344350 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32322629 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2014-01-21