Incidental Mutation 'R4478:Kcnk18'
ID 331381
Institutional Source Beutler Lab
Gene Symbol Kcnk18
Ensembl Gene ENSMUSG00000040901
Gene Name potassium channel, subfamily K, member 18
Synonyms Tresk, Tresk-2, LOC332396
MMRRC Submission 041735-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4478 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 59208080-59225802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59223676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 274 (S274P)
Ref Sequence ENSEMBL: ENSMUSP00000065713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065204]
AlphaFold Q6VV64
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
Adam3 T C 8: 25,185,171 (GRCm39) D509G probably benign Het
Ank1 C T 8: 23,610,594 (GRCm39) T1379I probably benign Het
Ap1m2 A G 9: 21,209,509 (GRCm39) V389A probably benign Het
Cdh15 A G 8: 123,591,415 (GRCm39) H517R probably benign Het
Chd9 T C 8: 91,760,659 (GRCm39) probably benign Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cpne5 T C 17: 29,428,450 (GRCm39) T118A probably damaging Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dag1 G C 9: 108,085,929 (GRCm39) T404R probably damaging Het
Dnah3 T G 7: 119,671,086 (GRCm39) H599P probably benign Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Fabp9 T C 3: 10,262,166 (GRCm39) Y30C probably damaging Het
Fnbp1 G A 2: 30,995,266 (GRCm39) A56V probably damaging Het
Hid1 G A 11: 115,252,481 (GRCm39) A67V probably damaging Het
Il6ra T A 3: 89,797,597 (GRCm39) Y90F probably damaging Het
Kndc1 A T 7: 139,500,600 (GRCm39) D655V probably damaging Het
Lrrk2 G A 15: 91,607,391 (GRCm39) A585T probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo9b A T 8: 71,743,725 (GRCm39) K262M probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or10aa1 C T 1: 173,870,182 (GRCm39) T222I probably benign Het
Or6c6b C T 10: 129,147,645 (GRCm39) L90F possibly damaging Het
Or8h10 G T 2: 86,808,562 (GRCm39) R193S probably benign Het
Plxna4 A T 6: 32,173,068 (GRCm39) C1288S possibly damaging Het
Ptpn22 T C 3: 103,809,380 (GRCm39) probably benign Het
Rab11fip3 C T 17: 26,235,057 (GRCm39) E619K probably damaging Het
Robo2 C A 16: 73,812,761 (GRCm39) R311L probably damaging Het
S2bpcox16 T C 12: 81,535,990 (GRCm39) probably benign Het
Sdad1 A G 5: 92,445,019 (GRCm39) M315T probably damaging Het
Slc39a12 T A 2: 14,424,990 (GRCm39) L407* probably null Het
Snap29 T C 16: 17,246,019 (GRCm39) V213A probably benign Het
Spef1l A T 7: 139,555,773 (GRCm39) probably null Het
Stard7 T A 2: 127,126,179 (GRCm39) L77Q probably damaging Het
Stat5b A G 11: 100,678,110 (GRCm39) Y668H probably benign Het
Tgfb2 A G 1: 186,364,696 (GRCm39) I266T probably damaging Het
Tmem87a C T 2: 120,199,824 (GRCm39) W440* probably null Het
Tnr T A 1: 159,712,326 (GRCm39) probably null Het
Ubl3 C T 5: 148,448,787 (GRCm39) S18N probably benign Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r9 T C 5: 108,994,143 (GRCm39) E502G probably benign Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Vwa8 T A 14: 79,106,241 (GRCm39) D61E probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp1 A G 8: 112,397,175 (GRCm39) R366G probably damaging Het
Zfp282 A T 6: 47,867,630 (GRCm39) R269* probably null Het
Other mutations in Kcnk18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Kcnk18 APN 19 59,223,502 (GRCm39) missense probably benign 0.23
IGL01460:Kcnk18 APN 19 59,208,289 (GRCm39) missense probably damaging 1.00
IGL02054:Kcnk18 APN 19 59,224,045 (GRCm39) utr 3 prime probably benign
IGL02304:Kcnk18 APN 19 59,223,295 (GRCm39) missense probably damaging 1.00
IGL02499:Kcnk18 APN 19 59,223,614 (GRCm39) missense probably benign 0.10
IGL02527:Kcnk18 APN 19 59,223,707 (GRCm39) missense probably damaging 0.99
IGL03033:Kcnk18 APN 19 59,223,616 (GRCm39) missense probably benign 0.21
cedar UTSW 19 59,223,773 (GRCm39) missense probably damaging 1.00
R1552:Kcnk18 UTSW 19 59,223,890 (GRCm39) missense probably damaging 0.99
R1775:Kcnk18 UTSW 19 59,223,773 (GRCm39) missense probably damaging 1.00
R1913:Kcnk18 UTSW 19 59,223,490 (GRCm39) missense possibly damaging 0.54
R2278:Kcnk18 UTSW 19 59,223,926 (GRCm39) missense probably damaging 1.00
R3036:Kcnk18 UTSW 19 59,223,494 (GRCm39) missense probably benign 0.38
R4494:Kcnk18 UTSW 19 59,223,263 (GRCm39) missense probably damaging 1.00
R4827:Kcnk18 UTSW 19 59,208,362 (GRCm39) missense probably damaging 0.97
R5393:Kcnk18 UTSW 19 59,208,271 (GRCm39) missense probably damaging 1.00
R6077:Kcnk18 UTSW 19 59,223,746 (GRCm39) missense probably damaging 0.98
R6145:Kcnk18 UTSW 19 59,224,039 (GRCm39) makesense probably null
R6881:Kcnk18 UTSW 19 59,208,390 (GRCm39) missense probably benign
R9641:Kcnk18 UTSW 19 59,223,266 (GRCm39) missense probably damaging 1.00
Z1176:Kcnk18 UTSW 19 59,223,391 (GRCm39) missense probably benign 0.39
Z1177:Kcnk18 UTSW 19 59,213,911 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GGATGAACTCCTAAACCCGC -3'
(R):5'- TGCCCACGATGATGTAGATG -3'

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