Incidental Mutation 'IGL02035:Kcnj3'
ID184484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj3
Ensembl Gene ENSMUSG00000026824
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 3
SynonymsGIRK1, Kcnf3, Kir3.1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02035
Quality Score
Status
Chromosome2
Chromosomal Location55435970-55598145 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55437578 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 126 (N126K)
Ref Sequence ENSEMBL: ENSMUSP00000108251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067101] [ENSMUST00000112632] [ENSMUST00000112633]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067101
AA Change: N126K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: N126K

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
Pfam:IRK 47 385 3.6e-164 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112632
AA Change: N126K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824
AA Change: N126K

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
Pfam:IRK 47 235 4e-99 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112633
AA Change: N126K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: N126K

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
Pfam:IRK 47 369 1.1e-141 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180810
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 and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation display slightly increased resting heart rates, and blunted responses to both indirect vagal activation and direct adenosine A1 receptor activation (intended to activate the muscarinic-gated atrial potassium channel). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik G T 17: 25,947,162 H384N probably benign Het
Ahctf1 A T 1: 179,766,014 I1135N probably benign Het
Atl1 A G 12: 69,960,544 probably benign Het
Atr A G 9: 95,866,682 N427D probably benign Het
Chd2 T C 7: 73,441,627 probably null Het
Cnot4 A T 6: 35,070,251 V142D probably damaging Het
Ctnnd1 A T 2: 84,620,081 V265E probably damaging Het
Ddx27 G T 2: 167,029,512 V510F probably benign Het
Elac2 A G 11: 65,001,835 S822G probably benign Het
Fat3 A T 9: 16,377,970 F86I probably benign Het
Fbn1 T A 2: 125,335,362 probably null Het
Fgd4 C T 16: 16,490,416 probably benign Het
Furin T C 7: 80,390,987 E701G probably benign Het
Fzd2 A G 11: 102,606,444 *571W probably null Het
Gm9 A T X: 37,210,891 H3Q probably benign Het
Jak2 T C 19: 29,286,408 V441A probably benign Het
Lca5 T C 9: 83,423,312 E147G probably damaging Het
Magt1 G T X: 105,983,776 probably null Het
Nkx6-2 A T 7: 139,581,685 W195R probably damaging Het
Nt5c1a A T 4: 123,214,102 S193C possibly damaging Het
Olfr812 A G 10: 129,842,790 L84P possibly damaging Het
Os9 G A 10: 127,096,291 P604S possibly damaging Het
Pecam1 C T 11: 106,695,859 A277T probably benign Het
Polr1c A G 17: 46,246,159 V66A possibly damaging Het
Proser1 T C 3: 53,478,830 V711A probably benign Het
Sbp A G 17: 23,942,612 N19S possibly damaging Het
Sh3bp4 A G 1: 89,143,690 T87A probably benign Het
Vmn1r59 A T 7: 5,454,209 I184N possibly damaging Het
Zcchc14 T C 8: 121,604,615 probably benign Het
Other mutations in Kcnj3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Kcnj3 APN 2 55595272 missense possibly damaging 0.88
IGL01889:Kcnj3 APN 2 55437204 missense possibly damaging 0.69
IGL01988:Kcnj3 APN 2 55437231 missense probably benign 0.43
IGL01989:Kcnj3 APN 2 55437231 missense probably benign 0.43
IGL02004:Kcnj3 APN 2 55437231 missense probably benign 0.43
R0268:Kcnj3 UTSW 2 55594959 nonsense probably null
R0565:Kcnj3 UTSW 2 55595264 missense probably benign 0.03
R0853:Kcnj3 UTSW 2 55437223 missense possibly damaging 0.69
R1318:Kcnj3 UTSW 2 55437738 missense possibly damaging 0.88
R1592:Kcnj3 UTSW 2 55437886 missense probably damaging 1.00
R1756:Kcnj3 UTSW 2 55437220 missense probably damaging 1.00
R1899:Kcnj3 UTSW 2 55437244 missense probably damaging 1.00
R1966:Kcnj3 UTSW 2 55437331 missense probably damaging 0.99
R2891:Kcnj3 UTSW 2 55447015 missense probably damaging 1.00
R2892:Kcnj3 UTSW 2 55447015 missense probably damaging 1.00
R2893:Kcnj3 UTSW 2 55447015 missense probably damaging 1.00
R3901:Kcnj3 UTSW 2 55437348 missense possibly damaging 0.46
R4470:Kcnj3 UTSW 2 55437865 missense probably damaging 1.00
R4603:Kcnj3 UTSW 2 55446979 nonsense probably null
R4694:Kcnj3 UTSW 2 55594906 missense probably benign 0.00
R4945:Kcnj3 UTSW 2 55437578 missense probably damaging 1.00
R5144:Kcnj3 UTSW 2 55447047 splice site probably null
R5332:Kcnj3 UTSW 2 55437547 missense probably damaging 1.00
R5959:Kcnj3 UTSW 2 55437318 missense probably benign 0.10
R6352:Kcnj3 UTSW 2 55437549 missense probably benign 0.06
Posted On2014-05-07