Incidental Mutation 'R2125:Kcnk1'
ID 229770
Institutional Source Beutler Lab
Gene Symbol Kcnk1
Ensembl Gene ENSMUSG00000033998
Gene Name potassium channel, subfamily K, member 1
Synonyms TWIK-1
MMRRC Submission 040128-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2125 (G1)
Quality Score 185
Status Not validated
Chromosome 8
Chromosomal Location 126721909-126757424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126722395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 66 (E66G)
Ref Sequence ENSEMBL: ENSMUSP00000046103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046765] [ENSMUST00000212831]
AlphaFold O08581
Predicted Effect probably damaging
Transcript: ENSMUST00000046765
AA Change: E66G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046103
Gene: ENSMUSG00000033998
AA Change: E66G

DomainStartEndE-ValueType
low complexity region 23 41 N/A INTRINSIC
low complexity region 49 68 N/A INTRINSIC
Pfam:Ion_trans_2 82 158 6.6e-19 PFAM
Pfam:Ion_trans_2 190 271 1.8e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212831
AA Change: E66G

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation reduced urinary flow rates and on a low phosphate diet display an attenuated ability to increase renal phosphate reabsorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,066 (GRCm39) T255A possibly damaging Het
Abcb10 A C 8: 124,691,831 (GRCm39) V378G probably benign Het
Ackr2 C T 9: 121,737,852 (GRCm39) R76* probably null Het
Acly T C 11: 100,414,322 (GRCm39) T35A probably benign Het
Acp7 A C 7: 28,328,974 (GRCm39) F69V probably damaging Het
Acsl3 T A 1: 78,659,678 (GRCm39) I110N probably damaging Het
Adam5 C T 8: 25,305,134 (GRCm39) V107M probably damaging Het
Adck2 T C 6: 39,552,076 (GRCm39) V281A probably benign Het
Adgrv1 A G 13: 81,567,654 (GRCm39) V5173A probably benign Het
Adgrv1 A T 13: 81,568,069 (GRCm39) S5035T probably benign Het
Arl10 T A 13: 54,726,937 (GRCm39) probably null Het
B3gnt3 A G 8: 72,146,002 (GRCm39) W176R probably damaging Het
B4galt4 T C 16: 38,586,300 (GRCm39) I3T probably damaging Het
Casr T C 16: 36,315,614 (GRCm39) I819V possibly damaging Het
Cdh1 T C 8: 107,383,472 (GRCm39) V237A probably damaging Het
Col22a1 G A 15: 71,720,426 (GRCm39) R605C unknown Het
Crlf3 A G 11: 79,950,081 (GRCm39) V183A probably benign Het
Crtac1 C A 19: 42,312,171 (GRCm39) V181L probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dnah12 A T 14: 26,445,613 (GRCm39) R725* probably null Het
Dnhd1 A T 7: 105,327,178 (GRCm39) H709L probably benign Het
Dop1a A G 9: 86,403,099 (GRCm39) Y1431C probably damaging Het
Ecpas T C 4: 58,833,978 (GRCm39) H834R probably benign Het
Eif2ak4 A T 2: 118,252,604 (GRCm39) H392L probably benign Het
Entpd3 T C 9: 120,384,720 (GRCm39) I99T probably damaging Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Exoc6 T C 19: 37,579,389 (GRCm39) L429P probably damaging Het
F13a1 A G 13: 37,076,815 (GRCm39) S625P probably benign Het
Fcgbpl1 A T 7: 27,857,447 (GRCm39) Y2265F probably benign Het
Fcho2 T C 13: 98,912,406 (GRCm39) N240S possibly damaging Het
Fcrl6 C T 1: 172,426,815 (GRCm39) V44M probably benign Het
Fmo6 A T 1: 162,757,527 (GRCm39) M82K possibly damaging Het
Gabrr2 T G 4: 33,095,548 (GRCm39) I479R probably damaging Het
Gnl2 T A 4: 124,947,278 (GRCm39) F633L probably benign Het
Greb1l C T 18: 10,511,422 (GRCm39) S648F probably damaging Het
Gsap T A 5: 21,447,811 (GRCm39) C290S probably damaging Het
Gusb A G 5: 130,028,288 (GRCm39) V268A probably benign Het
H2-D1 G A 17: 35,483,091 (GRCm39) probably null Het
Hebp2 T A 10: 18,417,008 (GRCm39) E164D probably benign Het
Higd1a A T 9: 121,679,313 (GRCm39) I58N probably damaging Het
Hoxc13 G T 15: 102,835,658 (GRCm39) R262L probably damaging Het
Ifih1 A G 2: 62,453,811 (GRCm39) V218A probably benign Het
Impg2 T A 16: 56,085,427 (GRCm39) Y1045N probably damaging Het
Klkb1 A G 8: 45,728,541 (GRCm39) V406A possibly damaging Het
Klra10 G A 6: 130,256,241 (GRCm39) R138W probably damaging Het
Lama2 A C 10: 26,920,449 (GRCm39) Y193* probably null Het
Larp7 T C 3: 127,336,779 (GRCm39) T428A probably benign Het
Lipg T C 18: 75,078,956 (GRCm39) N432S probably benign Het
Loxl1 T C 9: 58,200,995 (GRCm39) D489G probably damaging Het
Lrguk A G 6: 34,069,837 (GRCm39) K571E probably benign Het
Map3k13 C T 16: 21,710,894 (GRCm39) T59I probably benign Het
Mertk T A 2: 128,604,058 (GRCm39) D397E probably benign Het
Mgat3 G A 15: 80,096,087 (GRCm39) V305I probably benign Het
Mrtfb T C 16: 13,218,668 (GRCm39) V449A possibly damaging Het
Mybpc1 G A 10: 88,409,299 (GRCm39) Q66* probably null Het
Myo3a A G 2: 22,468,186 (GRCm39) D480G probably benign Het
Ndufaf3 C T 9: 108,443,936 (GRCm39) R31Q probably benign Het
Neb T C 2: 52,200,650 (GRCm39) Y343C probably damaging Het
Nrxn3 A G 12: 89,227,290 (GRCm39) probably null Het
Or4c10b A G 2: 89,711,982 (GRCm39) M271V probably benign Het
Or8k40 A T 2: 86,584,796 (GRCm39) N95K probably benign Het
Pcsk4 T C 10: 80,159,713 (GRCm39) M379V probably benign Het
Pdzd2 A T 15: 12,373,676 (GRCm39) V2153E probably benign Het
Pkd2l1 T C 19: 44,142,939 (GRCm39) D427G possibly damaging Het
Plcd4 A G 1: 74,604,311 (GRCm39) Y763C probably damaging Het
Plekhh1 T C 12: 79,125,774 (GRCm39) F1270S probably damaging Het
Pmfbp1 T C 8: 110,246,905 (GRCm39) V259A probably damaging Het
Ptprg T C 14: 12,179,283 (GRCm38) S767P possibly damaging Het
Rabl3 T G 16: 37,377,175 (GRCm39) probably null Het
Rffl T A 11: 82,709,264 (GRCm39) H53L probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rtl1 C T 12: 109,560,355 (GRCm39) V495I possibly damaging Het
Scaf11 A T 15: 96,317,196 (GRCm39) D789E possibly damaging Het
Scn2a T A 2: 65,582,423 (GRCm39) Y1590* probably null Het
Siglech T A 7: 55,421,434 (GRCm39) F190I probably benign Het
Slc22a22 C A 15: 57,117,636 (GRCm39) A302S probably damaging Het
Slc46a3 T A 5: 147,815,954 (GRCm39) T458S probably benign Het
Spta1 G T 1: 174,035,910 (GRCm39) R1072L possibly damaging Het
Tbx5 A G 5: 119,974,988 (GRCm39) T4A probably benign Het
Tdrd5 T C 1: 156,104,143 (GRCm39) R528G probably damaging Het
Tfip11 T C 5: 112,483,529 (GRCm39) V648A possibly damaging Het
Thumpd3 T C 6: 113,043,749 (GRCm39) V388A probably benign Het
Tmem131l C T 3: 83,850,058 (GRCm39) probably null Het
Ttf2 C A 3: 100,855,509 (GRCm39) Q895H possibly damaging Het
Ttn A T 2: 76,720,436 (GRCm39) probably null Het
Vmn2r13 A G 5: 109,306,058 (GRCm39) S507P probably benign Het
Vtn A G 11: 78,391,049 (GRCm39) T210A probably damaging Het
Zfp1010 C A 2: 176,957,195 (GRCm39) C101F probably damaging Het
Znhit2 A G 19: 6,112,091 (GRCm39) T279A probably benign Het
Other mutations in Kcnk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Kcnk1 APN 8 126,752,146 (GRCm39) missense possibly damaging 0.94
IGL01936:Kcnk1 APN 8 126,751,826 (GRCm39) missense probably damaging 1.00
IGL02447:Kcnk1 APN 8 126,751,819 (GRCm39) missense probably damaging 1.00
IGL02674:Kcnk1 APN 8 126,751,753 (GRCm39) missense probably damaging 1.00
PIT4515001:Kcnk1 UTSW 8 126,752,081 (GRCm39) missense probably damaging 1.00
R0735:Kcnk1 UTSW 8 126,752,028 (GRCm39) missense probably damaging 1.00
R1350:Kcnk1 UTSW 8 126,751,967 (GRCm39) missense probably benign 0.08
R1581:Kcnk1 UTSW 8 126,722,278 (GRCm39) missense possibly damaging 0.50
R1789:Kcnk1 UTSW 8 126,752,123 (GRCm39) missense possibly damaging 0.83
R2035:Kcnk1 UTSW 8 126,752,108 (GRCm39) missense possibly damaging 0.56
R2906:Kcnk1 UTSW 8 126,722,538 (GRCm39) missense probably benign 0.00
R2907:Kcnk1 UTSW 8 126,722,538 (GRCm39) missense probably benign 0.00
R4710:Kcnk1 UTSW 8 126,756,267 (GRCm39) missense probably damaging 1.00
R5698:Kcnk1 UTSW 8 126,752,144 (GRCm39) missense probably damaging 1.00
R6591:Kcnk1 UTSW 8 126,751,970 (GRCm39) missense probably benign 0.01
R6647:Kcnk1 UTSW 8 126,722,199 (GRCm39) start codon destroyed probably null 0.98
R6691:Kcnk1 UTSW 8 126,751,970 (GRCm39) missense probably benign 0.01
R6934:Kcnk1 UTSW 8 126,752,129 (GRCm39) missense probably damaging 1.00
R7059:Kcnk1 UTSW 8 126,756,466 (GRCm39) nonsense probably null
R7082:Kcnk1 UTSW 8 126,722,287 (GRCm39) missense probably damaging 1.00
R7441:Kcnk1 UTSW 8 126,722,307 (GRCm39) missense probably damaging 1.00
R7596:Kcnk1 UTSW 8 126,722,350 (GRCm39) missense probably damaging 0.97
R8393:Kcnk1 UTSW 8 126,751,964 (GRCm39) missense probably benign 0.05
R9271:Kcnk1 UTSW 8 126,752,152 (GRCm39) splice site probably null
R9286:Kcnk1 UTSW 8 126,752,148 (GRCm39) critical splice donor site probably null
R9481:Kcnk1 UTSW 8 126,756,281 (GRCm39) missense probably damaging 1.00
R9553:Kcnk1 UTSW 8 126,756,322 (GRCm39) nonsense probably null
R9779:Kcnk1 UTSW 8 126,751,807 (GRCm39) missense probably damaging 1.00
Z1177:Kcnk1 UTSW 8 126,756,392 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TATTTGCACGAAACCAGGAAAG -3'
(R):5'- TGCAGTACCCATATCGTGCTC -3'

Sequencing Primer
(F):5'- AAGATGCTGCAGTCCCTGG -3'
(R):5'- ATATCGTGCTCCGGGGTCAC -3'
Posted On 2014-09-17