Incidental Mutation 'R4710:Kcnk1'
ID 353216
Institutional Source Beutler Lab
Gene Symbol Kcnk1
Ensembl Gene ENSMUSG00000033998
Gene Name potassium channel, subfamily K, member 1
Synonyms TWIK-1
MMRRC Submission 042019-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4710 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 126721909-126757424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126756267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 263 (V263D)
Ref Sequence ENSEMBL: ENSMUSP00000148778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046765] [ENSMUST00000212831]
AlphaFold O08581
Predicted Effect probably damaging
Transcript: ENSMUST00000046765
AA Change: V263D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046103
Gene: ENSMUSG00000033998
AA Change: V263D

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 noncoding transcript
Transcript: ENSMUST00000212178
Predicted Effect probably damaging
Transcript: ENSMUST00000212831
AA Change: V263D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9321 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (75/76)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,618,262 (GRCm39) Q185L probably benign Het
Acaca T A 11: 84,283,163 (GRCm39) I2243N possibly damaging Het
Adamts18 A G 8: 114,433,558 (GRCm39) S1059P probably damaging Het
Aox4 A T 1: 58,294,797 (GRCm39) K1002M probably damaging Het
Ap1b1 A G 11: 4,981,664 (GRCm39) Y524C probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cntn2 T A 1: 132,455,963 (GRCm39) H185L possibly damaging Het
Col4a2 C A 8: 11,459,462 (GRCm39) P299Q probably benign Het
Commd3 A G 2: 18,679,093 (GRCm39) N106S probably benign Het
Coro7 T G 16: 4,452,797 (GRCm39) probably benign Het
Ctf1 C A 7: 127,316,252 (GRCm39) P66Q probably damaging Het
Dclre1c T C 2: 3,441,898 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,529,493 (GRCm39) L317Q probably damaging Het
Dnah2 A G 11: 69,368,903 (GRCm39) L1667P probably damaging Het
Dpp4 A G 2: 62,190,659 (GRCm39) I399T probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Erg T C 16: 95,190,893 (GRCm39) D90G possibly damaging Het
F11 T C 8: 45,703,183 (GRCm39) Y169C probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Gimd1 T C 3: 132,340,609 (GRCm39) S42P possibly damaging Het
Gm5526 T A 1: 45,896,579 (GRCm39) noncoding transcript Het
Gnl2 T A 4: 124,947,252 (GRCm39) S625T probably benign Het
H2-Q2 A G 17: 35,562,278 (GRCm39) E175G probably damaging Het
Hmgxb3 G A 18: 61,270,547 (GRCm39) P926S probably damaging Het
Ifi213 G A 1: 173,394,738 (GRCm39) probably benign Het
Inhba T C 13: 16,201,068 (GRCm39) V210A probably benign Het
Kansl1l G A 1: 66,840,655 (GRCm39) A215V possibly damaging Het
Kcnk9 A G 15: 72,384,824 (GRCm39) I118T probably damaging Het
Lamb1 A G 12: 31,332,582 (GRCm39) I283V probably benign Het
Larp7-ps T C 4: 92,079,212 (GRCm39) E203G possibly damaging Het
Lias A G 5: 65,555,070 (GRCm39) D88G probably benign Het
Lrrk2 G A 15: 91,584,130 (GRCm39) V297M possibly damaging Het
Maea C T 5: 33,526,034 (GRCm39) R237C probably benign Het
Mdfi T A 17: 48,135,511 (GRCm39) N73I probably damaging Het
Mphosph6 T A 8: 118,528,641 (GRCm39) M1L probably damaging Het
Mta2 T A 19: 8,926,517 (GRCm39) I486N probably damaging Het
Nbr1 C T 11: 101,466,101 (GRCm39) P769L probably damaging Het
Ncam2 T A 16: 81,262,594 (GRCm39) probably null Het
Ndel1 A G 11: 68,736,163 (GRCm39) Y26H probably damaging Het
Neb T C 2: 52,150,610 (GRCm39) R2473G probably benign Het
Or10ag53 T A 2: 87,082,384 (GRCm39) D34E possibly damaging Het
Or2t46 A T 11: 58,472,548 (GRCm39) I293F probably damaging Het
Or4c3d T C 2: 89,882,494 (GRCm39) Y58C probably damaging Het
Or5h19 T A 16: 58,856,638 (GRCm39) H154L possibly damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Prkn A C 17: 12,073,720 (GRCm39) Q346P possibly damaging Het
Prrc2b T A 2: 32,083,869 (GRCm39) S236R possibly damaging Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Rnf112 T C 11: 61,340,657 (GRCm39) D491G probably damaging Het
Rnf220 C T 4: 117,146,411 (GRCm39) probably benign Het
Ryr3 G A 2: 112,596,646 (GRCm39) L2483F probably damaging Het
Sema6a T C 18: 47,403,750 (GRCm39) N624S probably benign Het
Sgms1 C T 19: 32,137,537 (GRCm39) V10M probably damaging Het
Slc23a2 T C 2: 131,898,629 (GRCm39) N636S probably benign Het
Slc25a48 C T 13: 56,611,379 (GRCm39) T162I probably damaging Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Snrnp200 T C 2: 127,068,053 (GRCm39) L850P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox18 A G 2: 181,312,688 (GRCm39) Y148H probably damaging Het
Stk-ps1 A G 17: 36,708,562 (GRCm39) noncoding transcript Het
Tas2r104 T A 6: 131,662,407 (GRCm39) T101S probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn2r4 A G 3: 64,317,201 (GRCm39) probably null Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfat A T 15: 68,052,131 (GRCm39) D554E probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging 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
R2125:Kcnk1 UTSW 8 126,722,395 (GRCm39) missense probably damaging 0.99
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
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'- CAAAGTCATCGGCGGCTAAG -3'
(R):5'- AAGGCTCACTTTGCTTCTGC -3'

Sequencing Primer
(F):5'- GAGCTGTGTGGACTTCAAACCTC -3'
(R):5'- GCTCCTCCTTCAGGCCAG -3'
Posted On 2015-10-21