Incidental Mutation 'R6691:Kcnk1'
ID 530418
Institutional Source Beutler Lab
Gene Symbol Kcnk1
Ensembl Gene ENSMUSG00000033998
Gene Name potassium channel, subfamily K, member 1
Synonyms TWIK-1
MMRRC Submission 044809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6691 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 126721909-126757424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126751970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 192 (V192A)
Ref Sequence ENSEMBL: ENSMUSP00000046103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046765] [ENSMUST00000212831]
AlphaFold O08581
Predicted Effect probably benign
Transcript: ENSMUST00000046765
AA Change: V192A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000046103
Gene: ENSMUSG00000033998
AA Change: V192A

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 benign
Transcript: ENSMUST00000212831
AA Change: V192A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0729 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300009A05Rik A G 9: 63,306,236 (GRCm39) Y90H probably damaging Het
Agk A G 6: 40,369,624 (GRCm39) D337G probably benign Het
Amn A G 12: 111,241,831 (GRCm39) H299R possibly damaging Het
Angptl4 A G 17: 33,999,755 (GRCm39) probably null Het
AU040320 G A 4: 126,730,463 (GRCm39) M563I possibly damaging Het
Cachd1 T C 4: 100,846,683 (GRCm39) M1042T probably benign Het
Calcoco2 A G 11: 95,990,934 (GRCm39) S247P unknown Het
Cd209c T A 8: 3,995,680 (GRCm39) I41L probably benign Het
Ceacam12 T A 7: 17,803,149 (GRCm39) V185D possibly damaging Het
Chpt1 A T 10: 88,321,762 (GRCm39) probably benign Het
Clca3a1 G C 3: 144,719,644 (GRCm39) A442G probably damaging Het
Cldn8 T C 16: 88,359,423 (GRCm39) I167M possibly damaging Het
Cln3 A G 7: 126,178,606 (GRCm39) V143A possibly damaging Het
Dusp11 T C 6: 85,938,507 (GRCm39) H4R possibly damaging Het
Ephb3 T A 16: 21,033,223 (GRCm39) F69Y probably damaging Het
Gm11099 A T 2: 58,749,485 (GRCm39) probably benign Het
Grik2 A T 10: 49,149,021 (GRCm39) Y521* probably null Het
Igf2r A G 17: 12,907,895 (GRCm39) L2143P probably damaging Het
Or4a81 A T 2: 89,619,332 (GRCm39) Y121* probably null Het
Or8k53 A C 2: 86,177,763 (GRCm39) S116A probably damaging Het
Parp3 A G 9: 106,350,891 (GRCm39) S329P probably benign Het
Pld3 A T 7: 27,231,741 (GRCm39) N483K probably benign Het
Rbm33 A T 5: 28,557,544 (GRCm39) E252D probably damaging Het
Ryr2 T C 13: 11,609,609 (GRCm39) T4406A probably benign Het
Sgsm3 A G 15: 80,893,063 (GRCm39) D380G possibly damaging Het
Sorl1 G T 9: 41,913,863 (GRCm39) D1355E probably damaging Het
Sptbn1 A G 11: 30,063,984 (GRCm39) S1945P probably damaging Het
Ube2m A T 7: 12,770,396 (GRCm39) F70I probably damaging Het
Ube3b A G 5: 114,546,185 (GRCm39) I664V probably benign Het
Ugt1a7c A G 1: 88,023,378 (GRCm39) E179G possibly damaging Het
Vps50 T C 6: 3,504,939 (GRCm39) probably null Het
Xpo1 T C 11: 23,236,875 (GRCm39) L718P probably damaging Het
Zfp354c A G 11: 50,705,602 (GRCm39) I491T 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
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
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
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'- TCCTCCTTACAGGCTATGGC -3'
(R):5'- TCCGATCTTGTACAGCTCTCGG -3'

Sequencing Primer
(F):5'- GGCAAAGCCTTCTGCATCATC -3'
(R):5'- GTACAGCTCTCGGAACTTCTGG -3'
Posted On 2018-08-01