Incidental Mutation 'R0524:Kcnj5'
ID 48785
Institutional Source Beutler Lab
Gene Symbol Kcnj5
Ensembl Gene ENSMUSG00000032034
Gene Name potassium inwardly-rectifying channel, subfamily J, member 5
Synonyms GIRK4, Kir3.4
MMRRC Submission 038717-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0524 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 32226002-32255640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32234270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 15 (I15T)
Ref Sequence ENSEMBL: ENSMUSP00000149000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034533] [ENSMUST00000214223] [ENSMUST00000216033]
AlphaFold P48545
Predicted Effect probably benign
Transcript: ENSMUST00000034533
AA Change: I15T

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: I15T

Pfam:IRK 54 377 7e-147 PFAM
low complexity region 387 405 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214223
AA Change: I15T

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000216033
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.4%
  • 20x: 92.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 1: 180,574,624 (GRCm39) probably benign Het
Adamts16 T C 13: 70,949,013 (GRCm39) E216G probably benign Het
Aoc3 C A 11: 101,228,337 (GRCm39) P715T probably damaging Het
Bnipl T C 3: 95,157,140 (GRCm39) D33G probably benign Het
Celsr2 T C 3: 108,308,903 (GRCm39) H1701R probably damaging Het
Clca3b T A 3: 144,531,082 (GRCm39) H756L probably benign Het
Clca4a A G 3: 144,675,154 (GRCm39) W159R probably damaging Het
Ddx49 A T 8: 70,749,574 (GRCm39) I252N probably damaging Het
Duox2 T C 2: 122,112,317 (GRCm39) T1290A possibly damaging Het
Fam111a T A 19: 12,565,412 (GRCm39) I431K probably damaging Het
Fam135b A T 15: 71,334,133 (GRCm39) D1020E probably benign Het
Flii A G 11: 60,610,887 (GRCm39) V514A probably damaging Het
Frmpd1 A G 4: 45,283,774 (GRCm39) D865G probably benign Het
Frmpd1 G A 4: 45,256,902 (GRCm39) V157M probably damaging Het
Gsr G A 8: 34,159,208 (GRCm39) probably null Het
H1f11-ps T A 19: 47,158,933 (GRCm39) K214M unknown Het
Hps3 A T 3: 20,066,940 (GRCm39) V542E probably damaging Het
Kif2b T C 11: 91,466,550 (GRCm39) R578G probably benign Het
Lamb2 A G 9: 108,361,571 (GRCm39) R676G possibly damaging Het
Mrpl40 A G 16: 18,692,302 (GRCm39) F94S possibly damaging Het
Myo7b C T 18: 32,146,477 (GRCm39) V103M possibly damaging Het
Nmt2 T A 2: 3,306,474 (GRCm39) W69R probably benign Het
Nsd3 C A 8: 26,190,605 (GRCm39) Q1130K possibly damaging Het
Olfml1 T C 7: 107,189,384 (GRCm39) S150P probably damaging Het
Or2g1 A T 17: 38,106,496 (GRCm39) K54* probably null Het
Or5b116 A G 19: 13,423,228 (GRCm39) N284S probably damaging Het
Pask A T 1: 93,238,556 (GRCm39) W1310R probably damaging Het
Pcdh18 T C 3: 49,710,091 (GRCm39) Q408R probably damaging Het
Pfkm A G 15: 98,029,488 (GRCm39) I700V probably benign Het
Pias1 A G 9: 62,859,460 (GRCm39) V16A probably damaging Het
Pnpla8 C T 12: 44,330,401 (GRCm39) Q318* probably null Het
Ppp1cc C T 5: 122,310,833 (GRCm39) R142* probably null Het
Pygl T A 12: 70,254,498 (GRCm39) N149I probably damaging Het
Rapgef6 T A 11: 54,581,110 (GRCm39) S1285T probably benign Het
Rdh13 A C 7: 4,447,296 (GRCm39) C10W probably damaging Het
Rgr A T 14: 36,760,252 (GRCm39) C273S probably benign Het
Ripk4 G T 16: 97,556,487 (GRCm39) Y22* probably null Het
Slc34a2 G A 5: 53,222,215 (GRCm39) W302* probably null Het
Smarce1 G A 11: 99,104,888 (GRCm39) T263M probably damaging Het
Sypl1 C T 12: 33,017,564 (GRCm39) P94L possibly damaging Het
Tet3 A G 6: 83,356,924 (GRCm39) I878T probably damaging Het
Tmem232 A G 17: 65,792,937 (GRCm39) S87P probably damaging Het
Tmem260 A G 14: 48,709,935 (GRCm39) T163A probably benign Het
Ttn T C 2: 76,555,796 (GRCm39) Y30403C probably damaging Het
Ubash3b A T 9: 40,927,904 (GRCm39) M468K probably benign Het
Ulk4 A G 9: 121,081,717 (GRCm39) probably null Het
Vmn1r72 A G 7: 11,403,719 (GRCm39) F243S probably benign Het
Wrap73 A G 4: 154,229,764 (GRCm39) Y45C probably damaging Het
Zfp704 T C 3: 9,674,424 (GRCm39) D119G unknown Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Other mutations in Kcnj5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Kcnj5 APN 9 32,233,719 (GRCm39) missense probably damaging 1.00
IGL01700:Kcnj5 APN 9 32,233,925 (GRCm39) missense probably damaging 1.00
IGL02250:Kcnj5 APN 9 32,229,052 (GRCm39) missense probably damaging 1.00
IGL02683:Kcnj5 APN 9 32,229,076 (GRCm39) missense possibly damaging 0.94
IGL02981:Kcnj5 APN 9 32,233,877 (GRCm39) missense probably damaging 1.00
R0388:Kcnj5 UTSW 9 32,229,159 (GRCm39) missense probably damaging 1.00
R0464:Kcnj5 UTSW 9 32,234,269 (GRCm39) missense possibly damaging 0.87
R1711:Kcnj5 UTSW 9 32,233,865 (GRCm39) missense probably damaging 1.00
R1730:Kcnj5 UTSW 9 32,233,488 (GRCm39) missense probably damaging 1.00
R1783:Kcnj5 UTSW 9 32,233,488 (GRCm39) missense probably damaging 1.00
R2203:Kcnj5 UTSW 9 32,234,196 (GRCm39) missense probably benign 0.43
R2424:Kcnj5 UTSW 9 32,234,116 (GRCm39) missense probably damaging 1.00
R3701:Kcnj5 UTSW 9 32,229,124 (GRCm39) missense possibly damaging 0.95
R4459:Kcnj5 UTSW 9 32,233,691 (GRCm39) missense probably damaging 1.00
R4657:Kcnj5 UTSW 9 32,233,973 (GRCm39) missense probably benign
R5422:Kcnj5 UTSW 9 32,229,001 (GRCm39) missense probably benign 0.00
R6073:Kcnj5 UTSW 9 32,229,096 (GRCm39) missense probably damaging 1.00
R7185:Kcnj5 UTSW 9 32,233,472 (GRCm39) missense probably damaging 1.00
R7289:Kcnj5 UTSW 9 32,234,045 (GRCm39) missense probably damaging 1.00
R7294:Kcnj5 UTSW 9 32,234,045 (GRCm39) missense probably damaging 1.00
R7295:Kcnj5 UTSW 9 32,234,087 (GRCm39) missense probably damaging 1.00
R7296:Kcnj5 UTSW 9 32,234,045 (GRCm39) missense probably damaging 1.00
R7450:Kcnj5 UTSW 9 32,233,491 (GRCm39) missense possibly damaging 0.52
R7688:Kcnj5 UTSW 9 32,234,264 (GRCm39) missense probably benign 0.00
R7911:Kcnj5 UTSW 9 32,233,517 (GRCm39) missense probably damaging 1.00
R8506:Kcnj5 UTSW 9 32,233,628 (GRCm39) missense probably damaging 1.00
Z1177:Kcnj5 UTSW 9 32,228,994 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-06-12