Incidental Mutation 'R8059:Kcnj4'
ID 619621
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 067894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R8059 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79367915-79389442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79369003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 326 (S326G)
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: S326G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094075
Gene: ENSMUSG00000044216
AA Change: S326G

DomainStartEndE-ValueType
Pfam:IRK 22 361 2.1e-155 PFAM
coiled coil region 371 400 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
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
Abca13 T A 11: 9,323,279 (GRCm39) M3372K probably benign Het
Abcg3 A T 5: 105,100,948 (GRCm39) probably null Het
Adam19 G A 11: 46,027,293 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,344,794 (GRCm39) T53K probably damaging Het
Ccdc141 A C 2: 76,875,095 (GRCm39) L705R probably damaging Het
Cep78 A T 19: 15,958,876 (GRCm39) V156E probably benign Het
Cers2 A G 3: 95,229,982 (GRCm39) D342G probably damaging Het
Chl1 T A 6: 103,651,948 (GRCm39) I272N probably damaging Het
Defb30 A G 14: 63,273,383 (GRCm39) *77Q probably null Het
Dnai3 C G 3: 145,752,428 (GRCm39) R749S possibly damaging Het
Dnm3 A G 1: 161,911,708 (GRCm39) V63A probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Entpd2 G T 2: 25,288,096 (GRCm39) V107L probably damaging Het
Hectd1 T A 12: 51,837,161 (GRCm39) H799L possibly damaging Het
Hira T C 16: 18,730,901 (GRCm39) V200A probably damaging Het
Hspd1 T C 1: 55,120,883 (GRCm39) K269E possibly damaging Het
Kctd19 T G 8: 106,122,983 (GRCm39) I144L probably benign Het
Lama4 T C 10: 38,842,057 (GRCm39) I36T probably benign Het
Lrrn3 T C 12: 41,504,216 (GRCm39) T34A probably benign Het
Maco1 A T 4: 134,555,359 (GRCm39) C371* probably null Het
Maml3 A G 3: 51,764,110 (GRCm39) S285P probably damaging Het
Man2b2 A G 5: 36,973,504 (GRCm39) Y492H probably damaging Het
Mapk10 G T 5: 103,114,478 (GRCm39) N303K probably damaging Het
Matn2 C T 15: 34,345,481 (GRCm39) R163C probably damaging Het
Mtmr7 C T 8: 41,034,564 (GRCm39) A253T probably damaging Het
Naca C T 10: 127,876,372 (GRCm39) P468L unknown Het
Nckap1l T C 15: 103,401,714 (GRCm39) S1084P possibly damaging Het
Nek11 T C 9: 105,040,173 (GRCm39) *629W probably null Het
Nfkb1 C T 3: 135,299,613 (GRCm39) A731T possibly damaging Het
Nop2 T C 6: 125,117,775 (GRCm39) V442A probably damaging Het
Oaz2 C T 9: 65,596,425 (GRCm39) P163L probably damaging Het
Or5p57 T C 7: 107,665,223 (GRCm39) T231A probably benign Het
Or6d14 C T 6: 116,533,434 (GRCm39) T16I possibly damaging Het
Or8k23 A G 2: 86,186,306 (GRCm39) V140A probably benign Het
Pabpc2 A T 18: 39,907,875 (GRCm39) N380I probably benign Het
Pax3 T C 1: 78,080,003 (GRCm39) D461G probably benign Het
Pds5b G T 5: 150,731,300 (GRCm39) R1443L unknown Het
Per1 G A 11: 68,997,309 (GRCm39) R828H probably damaging Het
Phlpp2 T A 8: 110,622,189 (GRCm39) S144T probably benign Het
Plod1 A T 4: 148,012,941 (GRCm39) I207N probably damaging Het
Psmc6 A T 14: 45,578,260 (GRCm39) I208F probably damaging Het
Rev3l T C 10: 39,719,491 (GRCm39) S2494P probably damaging Het
Rgs3 T C 4: 62,521,214 (GRCm39) probably benign Het
Rtraf T C 14: 19,872,631 (GRCm39) probably benign Het
Slc17a6 T A 7: 51,294,792 (GRCm39) N166K probably damaging Het
Slc18a2 A T 19: 59,272,572 (GRCm39) T348S probably benign Het
Slc39a8 G T 3: 135,532,347 (GRCm39) A39S probably benign Het
Slc8a3 C T 12: 81,249,032 (GRCm39) G799S probably damaging Het
Sp1 T G 15: 102,316,337 (GRCm39) S46R possibly damaging Het
Spta1 A G 1: 174,045,936 (GRCm39) probably benign Het
Stab1 G A 14: 30,882,198 (GRCm39) P499L probably benign Het
Trav21-dv12 C A 14: 54,114,178 (GRCm39) D99E probably damaging Het
Trpv6 T G 6: 41,601,520 (GRCm39) I467L probably benign Het
Ttc41 A G 10: 86,548,842 (GRCm39) Y12C probably benign Het
Vmn1r233 T C 17: 21,214,698 (GRCm39) N84S probably benign Het
Vrtn T C 12: 84,696,690 (GRCm39) F480S probably benign Het
Zc3h13 C G 14: 75,565,250 (GRCm39) R788G unknown 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
R4396:Kcnj4 UTSW 15 79,368,874 (GRCm39) missense probably benign 0.06
R7598:Kcnj4 UTSW 15 79,369,965 (GRCm39) missense probably benign 0.00
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'- TCTTTGGAACCTGCCTCCAG -3'
(R):5'- CATAGTGCATGAAATCGACGAG -3'

Sequencing Primer
(F):5'- GCCGCAGCCTCCTCTTC -3'
(R):5'- TGAAATCGACGAGGACAGCCC -3'
Posted On 2020-01-23