Incidental Mutation 'R6466:Kcnk4'
ID 516609
Institutional Source Beutler Lab
Gene Symbol Kcnk4
Ensembl Gene ENSMUSG00000024957
Gene Name potassium channel, subfamily K, member 4
Synonyms TRAAKt
MMRRC Submission 044599-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6466 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 6903030-6912261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6905665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 101 (I101F)
Ref Sequence ENSEMBL: ENSMUSP00000025908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025908] [ENSMUST00000057716]
AlphaFold O88454
Predicted Effect probably damaging
Transcript: ENSMUST00000025908
AA Change: I101F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957
AA Change: I101F

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
Validation Efficiency 98% (56/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik A T 8: 121,335,735 (GRCm39) D69E probably damaging Het
AAdacl4fm3 T A 4: 144,430,437 (GRCm39) D184V probably damaging Het
Adgrv1 G T 13: 81,723,220 (GRCm39) probably null Het
Ahr A T 12: 35,554,031 (GRCm39) V696E probably benign Het
Akap13 A G 7: 75,376,792 (GRCm39) T2007A probably benign Het
Arid1b T C 17: 5,377,953 (GRCm39) F753S probably damaging Het
Bpifb3 G T 2: 153,764,108 (GRCm39) K105N probably damaging Het
C2cd2 A G 16: 97,680,822 (GRCm39) C331R probably benign Het
Chrm1 T A 19: 8,655,542 (GRCm39) Y82* probably null Het
Clcn3 A C 8: 61,382,595 (GRCm39) V331G probably damaging Het
Dchs1 A T 7: 105,413,748 (GRCm39) D1022E probably benign Het
Dnah2 T A 11: 69,430,241 (GRCm39) T106S probably benign Het
Fam171a2 T A 11: 102,330,711 (GRCm39) D256V probably damaging Het
Firrm G T 1: 163,781,734 (GRCm39) R898S probably benign Het
Fmn2 T A 1: 174,437,149 (GRCm39) probably benign Het
Fut11 C T 14: 20,745,377 (GRCm39) R103W probably damaging Het
Gas2l2 A C 11: 83,320,179 (GRCm39) S26A probably damaging Het
Gramd1a A T 7: 30,843,221 (GRCm39) I29N probably benign Het
Grem2 A G 1: 174,664,450 (GRCm39) V133A probably damaging Het
Hydin T A 8: 111,233,600 (GRCm39) S1813T possibly damaging Het
Igkv3-2 T C 6: 70,676,023 (GRCm39) F111L probably benign Het
Ints8 T C 4: 11,252,878 (GRCm39) Q68R probably damaging Het
Irx5 A G 8: 93,086,354 (GRCm39) I146V probably damaging Het
Kcnh3 T C 15: 99,136,124 (GRCm39) L707P probably damaging Het
Klhl9 A G 4: 88,639,399 (GRCm39) Y281H probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lmbr1 C T 5: 29,583,166 (GRCm39) A9T probably benign Het
Map10 G T 8: 126,399,123 (GRCm39) E839* probably null Het
Nectin4 C A 1: 171,214,321 (GRCm39) A492D probably damaging Het
Nfat5 T A 8: 108,082,140 (GRCm39) probably null Het
Or5p5 A G 7: 107,413,901 (GRCm39) T37A probably benign Het
Plec A G 15: 76,062,084 (GRCm39) Y2608H probably benign Het
Pold3 A G 7: 99,749,839 (GRCm39) S42P probably benign Het
Ppp2r1a G T 17: 21,180,893 (GRCm39) G432* probably null Het
Qki T C 17: 10,434,394 (GRCm39) E315G probably benign Het
Rfx2 C T 17: 57,091,397 (GRCm39) V354I probably benign Het
Rp1 T C 1: 4,418,109 (GRCm39) Y1001C probably benign Het
Sez6l A G 5: 112,609,007 (GRCm39) probably null Het
Slc39a14 A G 14: 70,547,335 (GRCm39) I337T probably damaging Het
Slc3a2 G T 19: 8,686,683 (GRCm39) L76M probably damaging Het
Slco1a5 T C 6: 142,183,260 (GRCm39) T555A probably benign Het
Sprr2e A T 3: 92,260,341 (GRCm39) K57N unknown Het
Syne2 A G 12: 75,990,675 (GRCm39) T1886A probably damaging Het
Tenm3 A T 8: 48,689,098 (GRCm39) I2147N probably damaging Het
Thbs1 G T 2: 117,950,328 (GRCm39) G654W probably damaging Het
Tigd5 A G 15: 75,782,352 (GRCm39) Y238C possibly damaging Het
Tmem221 A G 8: 72,010,493 (GRCm39) F126S probably damaging Het
Trp63 C A 16: 25,582,108 (GRCm39) P52Q probably damaging Het
Ugp2 A T 11: 21,278,883 (GRCm39) S434R probably benign Het
Vmn2r69 A C 7: 85,056,378 (GRCm39) F587V probably benign Het
Vps13d T A 4: 144,784,065 (GRCm39) N3872I possibly damaging Het
Wdfy2 A G 14: 63,186,115 (GRCm39) Y250C probably damaging Het
Zbtb16 T C 9: 48,576,619 (GRCm39) D487G possibly 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
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
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'- CCGGCATCTGTGTGTAAGAC -3'
(R):5'- ACAGTGAGGGAGACATCTCA -3'

Sequencing Primer
(F):5'- GCATCTGTGTGTAAGACTATATTGCC -3'
(R):5'- ACACACAGTCAGTAAGATGTGC -3'
Posted On 2018-05-21