Incidental Mutation 'R7596:Kcnk1'
ID 587725
Institutional Source Beutler Lab
Gene Symbol Kcnk1
Ensembl Gene ENSMUSG00000033998
Gene Name potassium channel, subfamily K, member 1
Synonyms TWIK-1
MMRRC Submission 045671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7596 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 126721909-126757424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126722350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 51 (L51P)
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: L51P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046103
Gene: ENSMUSG00000033998
AA Change: L51P

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: L51P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (53/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik G A 16: 88,556,224 (GRCm39) S146N probably damaging Het
Adam26b A C 8: 43,973,237 (GRCm39) D588E probably benign Het
Ankrd13b C A 11: 77,363,140 (GRCm39) R547L probably benign Het
Bckdk G T 7: 127,505,572 (GRCm39) E232* probably null Het
C8a T C 4: 104,711,064 (GRCm39) K244E possibly damaging Het
Cad A G 5: 31,226,392 (GRCm39) I1145V probably benign Het
Cd28 C A 1: 60,802,487 (GRCm39) H135Q possibly damaging Het
Ceacam19 A G 7: 19,615,812 (GRCm39) I209T possibly damaging Het
Cecr2 A G 6: 120,739,167 (GRCm39) N1298S probably benign Het
Cpne5 C T 17: 29,445,191 (GRCm39) D38N possibly damaging Het
Dcn A T 10: 97,345,871 (GRCm39) I228F probably damaging Het
Gm5591 T G 7: 38,219,608 (GRCm39) I422L probably benign Het
Gnptab T G 10: 88,279,232 (GRCm39) F1201V probably damaging Het
Hc A G 2: 34,890,859 (GRCm39) V1319A probably damaging Het
Htr3b T C 9: 48,847,361 (GRCm39) N385D probably benign Het
Ikbip A T 10: 90,918,891 (GRCm39) probably benign Het
Lcn2 A G 2: 32,275,721 (GRCm39) Y160H probably damaging Het
Lig1 T C 7: 13,039,923 (GRCm39) S712P probably damaging Het
Lrrc19 T G 4: 94,531,592 (GRCm39) M7L probably benign Het
Lrrc4b C T 7: 44,111,310 (GRCm39) T394M probably damaging Het
Map7 A G 10: 20,153,927 (GRCm39) N681S unknown Het
Mdga2 A T 12: 66,552,897 (GRCm39) M912K probably damaging Het
Mlst8 C T 17: 24,697,084 (GRCm39) probably null Het
Ms4a13 A T 19: 11,147,329 (GRCm39) V195D unknown Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Nr4a2 G C 2: 56,998,243 (GRCm39) F574L probably damaging Het
Nup107 T C 10: 117,613,065 (GRCm39) N288D probably damaging Het
Or11g26 A T 14: 50,753,002 (GRCm39) T114S probably benign Het
Or13a1 T A 6: 116,471,158 (GRCm39) V196D probably benign Het
Or5b3 C T 19: 13,388,511 (GRCm39) H193Y probably benign Het
Pcolce A G 5: 137,605,087 (GRCm39) probably null Het
Pik3cg A G 12: 32,254,740 (GRCm39) F416L probably damaging Het
Podnl1 A G 8: 84,853,024 (GRCm39) I65V Het
Prpf8 T C 11: 75,382,330 (GRCm39) F387S probably benign Het
Rev3l A G 10: 39,697,534 (GRCm39) Y677C probably damaging Het
Rhpn1 A G 15: 75,584,162 (GRCm39) T430A probably benign Het
Rnf187 T C 11: 58,829,241 (GRCm39) R124G possibly damaging Het
Rpl9-ps6 C T 19: 32,443,783 (GRCm39) V57I probably benign Het
Samhd1 A T 2: 156,943,754 (GRCm39) F587I probably damaging Het
Slc30a6 A G 17: 74,722,664 (GRCm39) T244A probably benign Het
Slc35f4 T A 14: 49,543,666 (GRCm39) Y310F probably damaging Het
Smarcc2 A G 10: 128,318,662 (GRCm39) Y648C probably damaging Het
Smc5 A C 19: 23,191,533 (GRCm39) V889G probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Spopfm2 T A 3: 94,083,737 (GRCm39) T25S probably benign Het
Tango2 A G 16: 18,120,574 (GRCm39) V229A probably damaging Het
Tnks1bp1 A G 2: 84,893,057 (GRCm39) T995A probably benign Het
Trio A T 15: 27,749,912 (GRCm39) I2263N probably damaging Het
Ttc28 T C 5: 111,427,990 (GRCm39) F1829L probably damaging Het
Ttn A G 2: 76,638,923 (GRCm39) S13920P probably damaging Het
Ube2b T C 11: 51,877,570 (GRCm39) N133S probably damaging Het
Ubn1 T A 16: 4,899,422 (GRCm39) H1055Q probably benign Het
Ubtf G A 11: 102,197,533 (GRCm39) T705M unknown Het
Vmn2r109 A T 17: 20,760,942 (GRCm39) M805K probably damaging Het
Vsig10 T C 5: 117,472,848 (GRCm39) V147A possibly damaging Het
Zbtb16 C A 9: 48,743,704 (GRCm39) V203L possibly 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
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
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'- CTTGTATTTGCACGAAACCAGG -3'
(R):5'- CAGTACCCATATCGTGCTCC -3'

Sequencing Primer
(F):5'- TGTATTTGCACGAAACCAGGAAAGG -3'
(R):5'- ATATCGTGCTCCGGGGTCAC -3'
Posted On 2019-10-24