Incidental Mutation 'IGL02551:Kcnj4'
ID298068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj4
Ensembl Gene ENSMUSG00000044216
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 4
SynonymsMB-IRK3, Kir 2.3, Kcnf2, IRK3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02551
Quality Score
Status
Chromosome15
Chromosomal Location79483714-79505241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79484902 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 292 (M292I)
Ref Sequence ENSEMBL: ENSMUSP00000094075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057801]
Predicted Effect probably benign
Transcript: ENSMUST00000057801
AA Change: M292I

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: M292I

DomainStartEndE-ValueType
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,969,048 noncoding transcript Het
Abca8a T C 11: 110,084,242 I109V probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Adamts18 C A 8: 113,699,072 C1186F probably damaging Het
Adamts5 A T 16: 85,870,038 V522E possibly damaging Het
Adcy10 A G 1: 165,543,233 T694A probably damaging Het
Adgra2 G A 8: 27,119,222 V609I probably benign Het
Agbl3 A G 6: 34,823,071 K638R possibly damaging Het
Alpk2 T A 18: 65,372,751 N66I probably damaging Het
Ap3b1 T A 13: 94,418,091 I245N probably damaging Het
Aqp9 A G 9: 71,132,640 V120A probably damaging Het
Arhgef17 T C 7: 100,930,346 E465G probably damaging Het
Btrc G T 19: 45,423,134 C31F possibly damaging Het
Calhm2 G A 19: 47,133,100 S210L probably damaging Het
Cnksr3 C A 10: 7,152,912 K153N probably damaging Het
Cnr1 T C 4: 33,943,686 S25P probably benign Het
Dnajc6 T A 4: 101,639,353 W838R probably damaging Het
Fam78a T A 2: 32,069,556 T181S probably damaging Het
Fat1 A G 8: 45,051,398 T4600A probably damaging Het
Fbxo31 A T 8: 121,566,344 Y101N probably damaging Het
Glmp A G 3: 88,325,082 M1V probably null Het
Gsdmc T A 15: 63,801,933 T168S probably benign Het
Has1 C T 17: 17,848,298 V265I probably damaging Het
Hmcn2 A G 2: 31,454,811 D4670G possibly damaging Het
Kmo A T 1: 175,637,919 S80C probably damaging Het
Lrrc8d C T 5: 105,813,548 T608I possibly damaging Het
Mical2 A T 7: 112,323,990 N635I probably benign Het
Nags T C 11: 102,147,941 S403P probably damaging Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Ncan A T 8: 70,102,462 N1018K probably damaging Het
Notch3 T A 17: 32,154,731 probably benign Het
Nup93 C T 8: 94,227,833 Q53* probably null Het
Pdk2 T A 11: 95,028,586 M288L probably benign Het
Pkd1 A G 17: 24,573,815 Y1492C probably damaging Het
Pla2g12b T A 10: 59,403,870 W34R probably damaging Het
Pla2g6 T A 15: 79,299,094 D511V possibly damaging Het
Plin2 C A 4: 86,658,692 M265I probably benign Het
Ppp6c A T 2: 39,206,657 F78I probably damaging Het
Prop1 A T 11: 50,950,946 M211K possibly damaging Het
Prr14l T A 5: 32,831,484 E222D probably damaging Het
Rtkn A T 6: 83,151,924 I454F probably damaging Het
Serinc2 T C 4: 130,260,774 I226V probably benign Het
Sh3bp1 T A 15: 78,904,338 H229Q probably benign Het
Slc13a3 G T 2: 165,424,573 F348L probably damaging Het
Slc6a15 T A 10: 103,404,275 probably benign Het
Spg7 G A 8: 123,076,978 G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 D40G probably benign Het
Tmcc2 A G 1: 132,357,579 L683P probably damaging Het
Triobp T C 15: 78,973,489 S1097P probably benign Het
Tspan9 T C 6: 127,965,763 D167G probably null Het
Ttll6 T C 11: 96,154,700 I581T probably benign Het
Usp29 A G 7: 6,963,353 probably null Het
Vgll4 A G 6: 114,862,293 W246R probably damaging Het
Vmn2r26 T C 6: 124,026,141 V170A probably benign Het
Vmn2r62 T C 7: 42,788,506 T185A probably benign Het
Vwce A G 19: 10,645,036 H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 E2194G possibly damaging Het
Other mutations in Kcnj4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Kcnj4 APN 15 79484579 missense probably benign 0.01
IGL02263:Kcnj4 APN 15 79485787 utr 5 prime probably benign
R1305:Kcnj4 UTSW 15 79484819 missense probably damaging 1.00
R1464:Kcnj4 UTSW 15 79485404 missense probably damaging 1.00
R1464:Kcnj4 UTSW 15 79485404 missense probably damaging 1.00
R1475:Kcnj4 UTSW 15 79484630 missense probably damaging 1.00
R1844:Kcnj4 UTSW 15 79485015 missense probably damaging 1.00
R3906:Kcnj4 UTSW 15 79485745 missense probably benign 0.01
R3907:Kcnj4 UTSW 15 79485745 missense probably benign 0.01
R3908:Kcnj4 UTSW 15 79485745 missense probably benign 0.01
R4396:Kcnj4 UTSW 15 79484673 missense probably benign 0.06
R7598:Kcnj4 UTSW 15 79485764 missense probably benign 0.00
R8059:Kcnj4 UTSW 15 79484802 missense probably benign
R8371:Kcnj4 UTSW 15 79485141 missense probably damaging 1.00
R8818:Kcnj4 UTSW 15 79485719 missense probably damaging 1.00
X0062:Kcnj4 UTSW 15 79485690 missense probably benign 0.06
Z1177:Kcnj4 UTSW 15 79485169 missense probably damaging 1.00
Posted On2015-04-16