Incidental Mutation 'IGL00960:Kcnj5'
ID28227
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 #IGL00960
Quality Score
Status
Chromosome9
Chromosomal Location32314707-32344350 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32322423 bp
ZygosityHeterozygous
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7992:Kcnj5 UTSW 9 32322221 missense probably damaging 1.00
Posted On2013-04-17