Incidental Mutation 'IGL01070:Kcnj4'
ID 52767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj4
Ensembl Gene ENSMUSG00000044216
Gene Name potassium inwardly-rectifying channel, subfamily J, member 4
Synonyms MB-IRK3, Kir 2.3, Kcnf2, IRK3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01070
Quality Score
Chromosome 15
Chromosomal Location 79483714-79505241 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79484579 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 400 (L400P)
Ref Sequence ENSEMBL: ENSMUSP00000094075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057801]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057801
AA Change: L400P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: L400P

Pfam:IRK 22 361 2.1e-155 PFAM
coiled coil region 371 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229365
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 (GRCm38) V124I probably damaging Het
Adamts5 T C 16: 85,863,133 (GRCm38) H757R probably damaging Het
Aen G A 7: 78,907,302 (GRCm38) M299I probably damaging Het
Akap3 A T 6: 126,865,879 (GRCm38) E487V possibly damaging Het
Bicd2 T C 13: 49,378,316 (GRCm38) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm38) S162N probably damaging Het
Cma1 A G 14: 55,942,697 (GRCm38) S71P probably benign Het
Cspp1 T C 1: 10,088,145 (GRCm38) Y494H probably damaging Het
Cyp39a1 A G 17: 43,683,022 (GRCm38) K191R probably benign Het
Efr3a G A 15: 65,853,078 (GRCm38) V507I probably benign Het
Fam178b C T 1: 36,564,403 (GRCm38) R489Q possibly damaging Het
Kif27 A G 13: 58,344,093 (GRCm38) Y411H probably damaging Het
Mstn A T 1: 53,061,997 (GRCm38) I78L possibly damaging Het
Nrap T C 19: 56,329,084 (GRCm38) D1377G probably damaging Het
Pramel5 T G 4: 144,271,272 (GRCm38) Y467S probably damaging Het
Prkg1 G A 19: 30,569,343 (GRCm38) probably benign Het
Rbfox1 A C 16: 7,306,443 (GRCm38) S219R possibly damaging Het
Rfng T C 11: 120,783,952 (GRCm38) N71D probably damaging Het
Rp1 T C 1: 4,345,238 (GRCm38) I1884V probably damaging Het
Rptn T A 3: 93,398,176 (GRCm38) Y939N possibly damaging Het
Sart1 A G 19: 5,383,951 (GRCm38) V322A probably benign Het
Shank3 T C 15: 89,549,416 (GRCm38) S1455P probably damaging Het
Smc5 T A 19: 23,231,601 (GRCm38) R703W possibly damaging Het
Sptan1 G A 2: 30,014,173 (GRCm38) probably null Het
Tecta T C 9: 42,395,003 (GRCm38) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm38) M685K probably benign Het
Trac A G 14: 54,220,766 (GRCm38) T82A probably benign Het
Trank1 A G 9: 111,366,793 (GRCm38) N1295S probably damaging Het
Ttc36 T C 9: 44,801,590 (GRCm38) probably null Het
Utp18 A T 11: 93,869,848 (GRCm38) S384T possibly damaging Het
Vmn1r64 C A 7: 5,883,942 (GRCm38) A201S probably benign Het
Vmn2r26 A T 6: 124,061,607 (GRCm38) I714F probably benign Het
Vps54 T A 11: 21,312,268 (GRCm38) V626D probably damaging Het
Wapl T C 14: 34,745,622 (GRCm38) probably benign Het
Yars2 C T 16: 16,306,542 (GRCm38) R338* probably null Het
Other mutations in Kcnj4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02263:Kcnj4 APN 15 79,485,787 (GRCm38) utr 5 prime probably benign
IGL02551:Kcnj4 APN 15 79,484,902 (GRCm38) missense probably benign 0.05
R1305:Kcnj4 UTSW 15 79,484,819 (GRCm38) missense probably damaging 1.00
R1464:Kcnj4 UTSW 15 79,485,404 (GRCm38) missense probably damaging 1.00
R1464:Kcnj4 UTSW 15 79,485,404 (GRCm38) missense probably damaging 1.00
R1475:Kcnj4 UTSW 15 79,484,630 (GRCm38) missense probably damaging 1.00
R1844:Kcnj4 UTSW 15 79,485,015 (GRCm38) missense probably damaging 1.00
R3906:Kcnj4 UTSW 15 79,485,745 (GRCm38) missense probably benign 0.01
R3907:Kcnj4 UTSW 15 79,485,745 (GRCm38) missense probably benign 0.01
R3908:Kcnj4 UTSW 15 79,485,745 (GRCm38) missense probably benign 0.01
R4396:Kcnj4 UTSW 15 79,484,673 (GRCm38) missense probably benign 0.06
R7598:Kcnj4 UTSW 15 79,485,764 (GRCm38) missense probably benign 0.00
R8059:Kcnj4 UTSW 15 79,484,802 (GRCm38) missense probably benign
R8371:Kcnj4 UTSW 15 79,485,141 (GRCm38) missense probably damaging 1.00
R8818:Kcnj4 UTSW 15 79,485,719 (GRCm38) missense probably damaging 1.00
R9664:Kcnj4 UTSW 15 79,485,019 (GRCm38) missense possibly damaging 0.95
X0062:Kcnj4 UTSW 15 79,485,690 (GRCm38) missense probably benign 0.06
Z1177:Kcnj4 UTSW 15 79,485,169 (GRCm38) missense probably damaging 1.00
Posted On 2013-06-21