Incidental Mutation 'R4478:Kcnk18'
ID331381
Institutional Source Beutler Lab
Gene Symbol Kcnk18
Ensembl Gene ENSMUSG00000040901
Gene Namepotassium channel, subfamily K, member 18
SynonymsLOC332396, Tresk, Tresk-2
MMRRC Submission 041735-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4478 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location59219648-59237370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59235244 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 274 (S274P)
Ref Sequence ENSEMBL: ENSMUSP00000065713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065204]
Predicted Effect probably damaging
Transcript: ENSMUST00000065204
AA Change: S274P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065713
Gene: ENSMUSG00000040901
AA Change: S274P

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
transmembrane domain 31 53 N/A INTRINSIC
Pfam:Ion_trans_2 99 168 1e-21 PFAM
Pfam:Ion_trans_2 298 376 1.4e-14 PFAM
Meta Mutation Damage Score 0.2173 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 94% (46/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit altered potassium conductance and neuron electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A T 7: 139,975,860 probably null Het
Adam3 T C 8: 24,695,155 D509G probably benign Het
Ank1 C T 8: 23,120,578 T1379I probably benign Het
Ap1m2 A G 9: 21,298,213 V389A probably benign Het
Cdh15 A G 8: 122,864,676 H517R probably benign Het
Chd9 T C 8: 91,034,031 probably benign Het
Chp2 A G 7: 122,220,918 D97G probably benign Het
Cpne5 T C 17: 29,209,476 T118A probably damaging Het
D130040H23Rik C A 8: 69,302,503 H187N possibly damaging Het
Dag1 G C 9: 108,208,730 T404R probably damaging Het
Dnah3 T G 7: 120,071,863 H599P probably benign Het
Eif4g1 G T 16: 20,678,843 probably benign Het
Fabp9 T C 3: 10,197,106 Y30C probably damaging Het
Fnbp1 G A 2: 31,105,254 A56V probably damaging Het
Gm20498 T C 12: 81,489,216 probably benign Het
Hid1 G A 11: 115,361,655 A67V probably damaging Het
Il6ra T A 3: 89,890,290 Y90F probably damaging Het
Kndc1 A T 7: 139,920,684 D655V probably damaging Het
Lrrk2 G A 15: 91,723,188 A585T probably damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Myo9b A T 8: 71,291,081 K262M probably damaging Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr1100 G T 2: 86,978,218 R193S probably benign Het
Olfr433 C T 1: 174,042,616 T222I probably benign Het
Olfr779 C T 10: 129,311,776 L90F possibly damaging Het
Plxna4 A T 6: 32,196,133 C1288S possibly damaging Het
Ptpn22 T C 3: 103,902,064 probably benign Het
Rab11fip3 C T 17: 26,016,083 E619K probably damaging Het
Robo2 C A 16: 74,015,873 R311L probably damaging Het
Sdad1 A G 5: 92,297,160 M315T probably damaging Het
Slc39a12 T A 2: 14,420,179 L407* probably null Het
Snap29 T C 16: 17,428,155 V213A probably benign Het
Stard7 T A 2: 127,284,259 L77Q probably damaging Het
Stat5b A G 11: 100,787,284 Y668H probably benign Het
Tgfb2 A G 1: 186,632,499 I266T probably damaging Het
Tmem87a C T 2: 120,369,343 W440* probably null Het
Tnr T A 1: 159,884,756 probably null Het
Ubl3 C T 5: 148,511,977 S18N probably benign Het
Vmn2r68 TCC TC 7: 85,221,550 probably null Het
Vmn2r9 T C 5: 108,846,277 E502G probably benign Het
Vps8 A T 16: 21,545,236 probably benign Het
Vwa8 T A 14: 78,868,801 D61E probably benign Het
Wdr73 T C 7: 80,893,221 E213G probably benign Het
Zfp1 A G 8: 111,670,543 R366G probably damaging Het
Zfp282 A T 6: 47,890,696 R269* probably null Het
Other mutations in Kcnk18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Kcnk18 APN 19 59235070 missense probably benign 0.23
IGL01460:Kcnk18 APN 19 59219857 missense probably damaging 1.00
IGL02054:Kcnk18 APN 19 59235613 utr 3 prime probably benign
IGL02304:Kcnk18 APN 19 59234863 missense probably damaging 1.00
IGL02499:Kcnk18 APN 19 59235182 missense probably benign 0.10
IGL02527:Kcnk18 APN 19 59235275 missense probably damaging 0.99
IGL03033:Kcnk18 APN 19 59235184 missense probably benign 0.21
cedar UTSW 19 59235341 missense probably damaging 1.00
R1552:Kcnk18 UTSW 19 59235458 missense probably damaging 0.99
R1775:Kcnk18 UTSW 19 59235341 missense probably damaging 1.00
R1913:Kcnk18 UTSW 19 59235058 missense possibly damaging 0.54
R2278:Kcnk18 UTSW 19 59235494 missense probably damaging 1.00
R3036:Kcnk18 UTSW 19 59235062 missense probably benign 0.38
R4494:Kcnk18 UTSW 19 59234831 missense probably damaging 1.00
R4827:Kcnk18 UTSW 19 59219930 missense probably damaging 0.97
R5393:Kcnk18 UTSW 19 59219839 missense probably damaging 1.00
R6077:Kcnk18 UTSW 19 59235314 missense probably damaging 0.98
R6145:Kcnk18 UTSW 19 59235607 makesense probably null
R6881:Kcnk18 UTSW 19 59219958 missense probably benign
Predicted Primers PCR Primer
(F):5'- GGATGAACTCCTAAACCCGC -3'
(R):5'- TGCCCACGATGATGTAGATG -3'

Sequencing Primer
(F):5'- GCAGCCCAGCAAGGACC -3'
(R):5'- TGGTGGTCAGTGTCACAAAGC -3'
Posted On2015-07-21