Incidental Mutation 'R4396:Kcnj4'
ID 325505
Institutional Source Beutler Lab
Gene Symbol Kcnj4
Ensembl Gene ENSMUSG00000044216
Gene Name potassium inwardly-rectifying channel, subfamily J, member 4
Synonyms IRK3, Kcnf2, Kir 2.3, MB-IRK3
MMRRC Submission 041129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4396 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79367915-79389442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79368874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 369 (A369S)
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: A369S

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: A369S

DomainStartEndE-ValueType
Pfam:IRK 22 361 2.1e-155 PFAM
coiled coil region 371 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229365
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (52/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,195,143 (GRCm39) F552L probably damaging Het
Actn2 A G 13: 12,325,765 (GRCm39) L70P probably damaging Het
Btbd7 A G 12: 102,751,552 (GRCm39) S1071P probably benign Het
Cd200r1 T A 16: 44,586,417 (GRCm39) W16R probably benign Het
Cdhr2 A G 13: 54,863,478 (GRCm39) N120D probably damaging Het
Col19a1 T C 1: 24,549,947 (GRCm39) T317A unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dmbt1 T C 7: 130,718,361 (GRCm39) L1683P probably damaging Het
Dynll1 A T 5: 115,438,700 (GRCm39) C2S probably benign Het
Elp2 T A 18: 24,742,707 (GRCm39) S80T probably damaging Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Fzd3 A G 14: 65,473,054 (GRCm39) I238T probably damaging Het
Galnt7 A T 8: 57,991,215 (GRCm39) F432I probably damaging Het
Gemin5 T A 11: 58,030,375 (GRCm39) T817S probably benign Het
Gm5414 T G 15: 101,534,101 (GRCm39) E294A probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Llgl1 T C 11: 60,596,834 (GRCm39) V145A probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mettl2 A G 11: 105,017,604 (GRCm39) D38G probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mpp4 T C 1: 59,183,961 (GRCm39) I260V possibly damaging Het
Mtcl1 T C 17: 66,651,220 (GRCm39) E1112G probably damaging Het
Mtus2 T A 5: 148,140,748 (GRCm39) N871K possibly damaging Het
Mylk C T 16: 34,732,645 (GRCm39) Q642* probably null Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Or4f57 A G 2: 111,790,560 (GRCm39) I286T probably damaging Het
Pdzd2 A T 15: 12,387,732 (GRCm39) D875E probably benign Het
Piezo1 G T 8: 123,225,413 (GRCm39) T557K probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Plxnb1 T C 9: 108,929,291 (GRCm39) V49A possibly damaging Het
Pramel6 A T 2: 87,338,874 (GRCm39) I25F probably damaging Het
Rreb1 C T 13: 38,114,419 (GRCm39) Q593* probably null Het
Scn8a A G 15: 100,870,711 (GRCm39) N254S probably damaging Het
Scnn1g T G 7: 121,339,650 (GRCm39) S150A probably benign Het
Sec24a A G 11: 51,605,991 (GRCm39) F686L possibly damaging Het
Sirt1 T C 10: 63,157,777 (GRCm39) T546A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Traf5 A T 1: 191,729,806 (GRCm39) V415E probably benign Het
Traip C G 9: 107,836,686 (GRCm39) T110S probably benign Het
Treml2 T C 17: 48,615,142 (GRCm39) V209A probably benign Het
Trpv5 T C 6: 41,634,830 (GRCm39) S500G probably benign Het
Usp32 G A 11: 84,944,801 (GRCm39) L296F probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zswim1 A G 2: 164,667,369 (GRCm39) D207G probably damaging Het
Other mutations in Kcnj4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Kcnj4 APN 15 79,368,780 (GRCm39) missense probably benign 0.01
IGL02263:Kcnj4 APN 15 79,369,988 (GRCm39) utr 5 prime probably benign
IGL02551:Kcnj4 APN 15 79,369,103 (GRCm39) missense probably benign 0.05
R1305:Kcnj4 UTSW 15 79,369,020 (GRCm39) missense probably damaging 1.00
R1464:Kcnj4 UTSW 15 79,369,605 (GRCm39) missense probably damaging 1.00
R1464:Kcnj4 UTSW 15 79,369,605 (GRCm39) missense probably damaging 1.00
R1475:Kcnj4 UTSW 15 79,368,831 (GRCm39) missense probably damaging 1.00
R1844:Kcnj4 UTSW 15 79,369,216 (GRCm39) missense probably damaging 1.00
R3906:Kcnj4 UTSW 15 79,369,946 (GRCm39) missense probably benign 0.01
R3907:Kcnj4 UTSW 15 79,369,946 (GRCm39) missense probably benign 0.01
R3908:Kcnj4 UTSW 15 79,369,946 (GRCm39) missense probably benign 0.01
R7598:Kcnj4 UTSW 15 79,369,965 (GRCm39) missense probably benign 0.00
R8059:Kcnj4 UTSW 15 79,369,003 (GRCm39) missense probably benign
R8371:Kcnj4 UTSW 15 79,369,342 (GRCm39) missense probably damaging 1.00
R8818:Kcnj4 UTSW 15 79,369,920 (GRCm39) missense probably damaging 1.00
R9664:Kcnj4 UTSW 15 79,369,220 (GRCm39) missense possibly damaging 0.95
X0062:Kcnj4 UTSW 15 79,369,891 (GRCm39) missense probably benign 0.06
Z1177:Kcnj4 UTSW 15 79,369,370 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATATTGTCCAGTGGAAGGGTG -3'
(R):5'- CTCCTATCTGGCCAGTGAGATC -3'

Sequencing Primer
(F):5'- GCTTGCATGCGCTCCAGATC -3'
(R):5'- CTATCTGGCCAGTGAGATCCTGTG -3'
Posted On 2015-07-06