Incidental Mutation 'R5409:Kcnk4'
ID 426473
Institutional Source Beutler Lab
Gene Symbol Kcnk4
Ensembl Gene ENSMUSG00000024957
Gene Name potassium channel, subfamily K, member 4
Synonyms TRAAKt
MMRRC Submission 042978-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5409 (G1)
Quality Score 195
Status Not validated
Chromosome 19
Chromosomal Location 6903030-6912261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6903578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 324 (S324P)
Ref Sequence ENSEMBL: ENSMUSP00000025908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025906] [ENSMUST00000025908] [ENSMUST00000057716] [ENSMUST00000173635]
AlphaFold O88454
Predicted Effect probably benign
Transcript: ENSMUST00000025906
SMART Domains Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955

DomainStartEndE-ValueType
internal_repeat_1 5 21 6.74e-5 PROSPERO
low complexity region 52 67 N/A INTRINSIC
ZnF_C4 76 147 2.16e-40 SMART
low complexity region 169 187 N/A INTRINSIC
internal_repeat_1 202 218 6.74e-5 PROSPERO
HOLI 229 391 9.21e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025908
AA Change: S324P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
AA Change: S324P

DomainStartEndE-ValueType
Pfam:Ion_trans 2 147 8.1e-9 PFAM
Pfam:Ion_trans_2 64 145 1.7e-21 PFAM
Pfam:Ion_trans_2 174 260 5.3e-22 PFAM
low complexity region 303 319 N/A INTRINSIC
low complexity region 367 390 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057716
SMART Domains Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623

DomainStartEndE-ValueType
low complexity region 104 118 N/A INTRINSIC
low complexity region 137 146 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173308
Predicted Effect probably benign
Transcript: ENSMUST00000173635
SMART Domains Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955

DomainStartEndE-ValueType
PDB:1LO1|A 1 21 6e-7 PDB
low complexity region 26 44 N/A INTRINSIC
Pfam:Hormone_recep 65 158 4.7e-18 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit normal sensitivity to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,850,154 (GRCm39) L2002P probably damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adgrl1 A G 8: 84,656,371 (GRCm39) T230A probably damaging Het
Anapc4 A G 5: 53,005,941 (GRCm39) E316G probably damaging Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Aurka T G 2: 172,209,036 (GRCm39) Q33P possibly damaging Het
Ccn5 G A 2: 163,667,158 (GRCm39) C53Y probably damaging Het
Cenpm T C 15: 82,118,564 (GRCm39) T153A probably benign Het
Clca4b T A 3: 144,622,452 (GRCm39) K538* probably null Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Col5a1 C T 2: 27,850,457 (GRCm39) T518I unknown Het
Dis3 A T 14: 99,323,368 (GRCm39) M566K possibly damaging Het
Dnah1 C T 14: 30,985,212 (GRCm39) R3869H probably damaging Het
Gm4775 A T 14: 106,338,386 (GRCm39) noncoding transcript Het
Hipk2 C T 6: 38,706,977 (GRCm39) G637D probably damaging Het
Igkv4-61 T C 6: 69,394,111 (GRCm39) K18E possibly damaging Het
Larp4 T C 15: 99,883,945 (GRCm39) C61R probably damaging Het
Nid2 T C 14: 19,856,030 (GRCm39) F986L probably damaging Het
Or5ac16 A G 16: 59,021,920 (GRCm39) Y290H probably damaging Het
Or5aq1b T C 2: 86,902,214 (GRCm39) E88G possibly damaging Het
Or5h22 C T 16: 58,894,559 (GRCm39) V295I possibly damaging Het
Pgbd5 T A 8: 125,098,619 (GRCm39) I359F probably damaging Het
Plekhh2 T C 17: 84,893,906 (GRCm39) probably null Het
Pomgnt2 A T 9: 121,811,303 (GRCm39) S493T possibly damaging Het
Rnf7l A T 10: 63,257,403 (GRCm39) M39K possibly damaging Het
Rp1l1 T C 14: 64,268,070 (GRCm39) S1219P probably benign Het
Rprd1b T A 2: 157,916,987 (GRCm39) F322L probably damaging Het
Sh3rf1 G A 8: 61,827,279 (GRCm39) V678M probably benign Het
Smpd5 C A 15: 76,179,914 (GRCm39) T321K probably damaging Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Tanc2 T C 11: 105,758,311 (GRCm39) C691R possibly damaging Het
Tnc A C 4: 63,884,773 (GRCm39) M1834R probably damaging Het
Tnc A T 4: 63,925,654 (GRCm39) Y961N probably damaging Het
Ttn T C 2: 76,700,893 (GRCm39) probably benign Het
Ufl1 A G 4: 25,280,706 (GRCm39) V47A probably damaging Het
Unc13c T A 9: 73,485,672 (GRCm39) D1676V possibly damaging Het
Vmn1r65 T C 7: 6,012,012 (GRCm39) N74S possibly damaging Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Other mutations in Kcnk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Kcnk4 APN 19 6,904,545 (GRCm39) missense probably damaging 1.00
IGL02047:Kcnk4 APN 19 6,903,626 (GRCm39) missense probably benign 0.00
IGL02726:Kcnk4 APN 19 6,904,457 (GRCm39) critical splice donor site probably null
R0149:Kcnk4 UTSW 19 6,903,562 (GRCm39) missense probably benign 0.08
R0617:Kcnk4 UTSW 19 6,905,528 (GRCm39) unclassified probably benign
R1392:Kcnk4 UTSW 19 6,905,031 (GRCm39) missense possibly damaging 0.80
R1392:Kcnk4 UTSW 19 6,905,031 (GRCm39) missense possibly damaging 0.80
R3017:Kcnk4 UTSW 19 6,905,162 (GRCm39) missense probably damaging 0.96
R4439:Kcnk4 UTSW 19 6,910,129 (GRCm39) missense probably benign 0.01
R4895:Kcnk4 UTSW 19 6,905,784 (GRCm39) splice site probably null
R5208:Kcnk4 UTSW 19 6,905,069 (GRCm39) missense possibly damaging 0.79
R5743:Kcnk4 UTSW 19 6,905,723 (GRCm39) missense possibly damaging 0.69
R6233:Kcnk4 UTSW 19 6,905,697 (GRCm39) missense probably benign 0.29
R6466:Kcnk4 UTSW 19 6,905,665 (GRCm39) missense probably damaging 1.00
R7358:Kcnk4 UTSW 19 6,903,478 (GRCm39) missense probably damaging 1.00
R8040:Kcnk4 UTSW 19 6,904,995 (GRCm39) missense probably damaging 1.00
R8356:Kcnk4 UTSW 19 6,903,668 (GRCm39) missense probably benign
R8437:Kcnk4 UTSW 19 6,903,602 (GRCm39) missense probably benign 0.01
R8444:Kcnk4 UTSW 19 6,903,508 (GRCm39) missense probably damaging 1.00
R8805:Kcnk4 UTSW 19 6,905,379 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCTGAGCATCAGCAAGAG -3'
(R):5'- TTCCTCTCTGTGCAGATGGG -3'

Sequencing Primer
(F):5'- ATCCGGGTCCAGAGATCC -3'
(R):5'- TGCAGATGGGTGGCCTAAC -3'
Posted On 2016-09-01