Incidental Mutation 'R4439:Kcnk4'
ID 329698
Institutional Source Beutler Lab
Gene Symbol Kcnk4
Ensembl Gene ENSMUSG00000024957
Gene Name potassium channel, subfamily K, member 4
Synonyms TRAAKt
MMRRC Submission 041704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4439 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6903030-6912261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6910129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 44 (D44G)
Ref Sequence ENSEMBL: ENSMUSP00000025908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025908]
AlphaFold O88454
Predicted Effect probably benign
Transcript: ENSMUST00000025908
AA Change: D44G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
AA Change: D44G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 94% (50/53)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,384,557 (GRCm39) T2237I possibly damaging Het
Adgre1 T A 17: 57,754,954 (GRCm39) L684Q probably damaging Het
Cfap157 T A 2: 32,667,877 (GRCm39) Y488F probably benign Het
D630045J12Rik A G 6: 38,171,696 (GRCm39) I824T probably benign Het
Eno2 T C 6: 124,739,922 (GRCm39) probably benign Het
Fam78b C A 1: 166,906,491 (GRCm39) Q217K probably damaging Het
Fpgs C T 2: 32,577,513 (GRCm39) C219Y probably damaging Het
Garem2 G T 5: 30,318,344 (GRCm39) V106L possibly damaging Het
Grk3 A T 5: 113,094,543 (GRCm39) probably null Het
H3c2 A T 13: 23,936,708 (GRCm39) probably null Het
Hint2 T A 4: 43,654,919 (GRCm39) Y70F probably damaging Het
Ipp A G 4: 116,372,274 (GRCm39) N101S probably benign Het
Kcnj1 A T 9: 32,305,414 (GRCm39) probably benign Het
Kif5c T C 2: 49,578,737 (GRCm39) S122P possibly damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Nipbl T A 15: 8,368,208 (GRCm39) K1171N probably damaging Het
Or4k39 T A 2: 111,239,653 (GRCm39) noncoding transcript Het
Pcf11 A C 7: 92,307,225 (GRCm39) L981R probably damaging Het
Pias2 T A 18: 77,185,399 (GRCm39) L153H probably damaging Het
Pjvk T C 2: 76,481,750 (GRCm39) S68P probably damaging Het
Pkd1 T C 17: 24,804,666 (GRCm39) V3130A probably damaging Het
Plpp4 C A 7: 128,858,813 (GRCm39) probably benign Het
Plxnd1 T A 6: 115,970,937 (GRCm39) H277L probably damaging Het
Pramel26 A T 4: 143,538,143 (GRCm39) V276E possibly damaging Het
Rasgrf2 T C 13: 92,131,797 (GRCm39) D620G possibly damaging Het
Rd3l C A 12: 111,946,092 (GRCm39) S63I possibly damaging Het
Scfd2 G C 5: 74,558,368 (GRCm39) A503G possibly damaging Het
Slco4a1 T C 2: 180,114,455 (GRCm39) V549A probably benign Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tespa1 C T 10: 130,197,826 (GRCm39) R283C probably damaging Het
Tle2 A G 10: 81,417,516 (GRCm39) E227G possibly damaging Het
Tnn T G 1: 159,943,650 (GRCm39) E1054D probably benign Het
Tnrc6a A T 7: 122,751,405 (GRCm39) K54* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpr T A 1: 150,279,712 (GRCm39) D206E probably benign Het
Ugt2b34 A T 5: 87,040,726 (GRCm39) F399I probably damaging Het
Usp3 A T 9: 66,425,776 (GRCm39) D456E probably benign Het
Vmn1r60 T A 7: 5,547,488 (GRCm39) H204L probably damaging Het
Vmn2r97 G T 17: 19,150,616 (GRCm39) A488S probably benign Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wdr86 T C 5: 24,935,235 (GRCm39) D36G probably damaging Het
Zc3h4 C T 7: 16,163,036 (GRCm39) P479S unknown Het
Zfhx4 A T 3: 5,279,875 (GRCm39) probably benign Het
Zfp607b T A 7: 27,402,149 (GRCm39) C202S probably damaging Het
Zfp882 T A 8: 72,667,453 (GRCm39) F93L 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
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
R5409:Kcnk4 UTSW 19 6,903,578 (GRCm39) missense probably benign 0.00
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'- AACACTTGGGTCCTAGCTCC -3'
(R):5'- ATCCTTGGTTTGGCCTGCAG -3'

Sequencing Primer
(F):5'- GGTCCTAGCTCCTGCCCTG -3'
(R):5'- TTTGGCCTGCAGTGACCAC -3'
Posted On 2015-07-21