Incidental Mutation 'R6877:Kcnk5'
ID 536478
Institutional Source Beutler Lab
Gene Symbol Kcnk5
Ensembl Gene ENSMUSG00000023243
Gene Name potassium channel, subfamily K, member 5
Synonyms TASK-2
MMRRC Submission 044973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6877 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 20190125-20231850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20194784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 185 (T185A)
Ref Sequence ENSEMBL: ENSMUSP00000024011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024011]
AlphaFold Q9JK62
Predicted Effect possibly damaging
Transcript: ENSMUST00000024011
AA Change: T185A

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024011
Gene: ENSMUSG00000023243
AA Change: T185A

DomainStartEndE-ValueType
Pfam:Ion_trans_2 60 138 7.1e-20 PFAM
Pfam:Ion_trans_2 161 251 2.1e-13 PFAM
low complexity region 257 264 N/A INTRINSIC
low complexity region 317 330 N/A INTRINSIC
low complexity region 469 483 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 94% (47/50)
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 message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are smaller than normal and display varying amounts of prenatal lethality depending on genetic background. Otherwise, the mice are viable and fertile. Other targeted mice display aberrations in respiratory physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,078,274 (GRCm39) H650R probably benign Het
Adgrl2 T C 3: 148,522,922 (GRCm39) Y1367C probably damaging Het
Aqr A T 2: 113,947,052 (GRCm39) C1043* probably null Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
AU041133 A G 10: 81,987,405 (GRCm39) T352A probably benign Het
Bcl7a A G 5: 123,489,958 (GRCm39) T41A probably damaging Het
Btbd10 A T 7: 112,921,967 (GRCm39) F298Y probably damaging Het
Ccdc57 G A 11: 120,764,528 (GRCm39) T749I probably benign Het
Clcnkb T C 4: 141,132,143 (GRCm39) N646S probably benign Het
Dcst1 T C 3: 89,257,667 (GRCm39) D701G probably benign Het
Dnah14 C A 1: 181,455,997 (GRCm39) T1001K possibly damaging Het
Dnah8 G T 17: 30,965,933 (GRCm39) G2422W probably damaging Het
Dyrk2 A T 10: 118,696,328 (GRCm39) I310N probably damaging Het
Eif5b A T 1: 38,089,320 (GRCm39) N1099Y probably damaging Het
Elp2 T A 18: 24,768,033 (GRCm39) N762K probably benign Het
Esco2 A G 14: 66,068,494 (GRCm39) V272A probably benign Het
Fat3 A C 9: 15,910,564 (GRCm39) S1813A probably benign Het
Igf2r A G 17: 12,916,228 (GRCm39) V1710A probably damaging Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Litafd G A 16: 8,501,173 (GRCm39) V10I unknown Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nol4 A T 18: 22,852,186 (GRCm39) C460S probably benign Het
Ntaq1 C A 15: 58,017,074 (GRCm39) P163Q probably damaging Het
Or10g3b T A 14: 52,587,270 (GRCm39) I78F possibly damaging Het
Or4f14b T C 2: 111,775,184 (GRCm39) I206V probably benign Het
Ovch2 G A 7: 107,389,315 (GRCm39) A371V probably benign Het
Pcdhb4 A G 18: 37,442,625 (GRCm39) D645G probably damaging Het
Pcnt A C 10: 76,269,851 (GRCm39) S207A possibly damaging Het
Pex1 A T 5: 3,685,505 (GRCm39) Q1211L probably benign Het
Pnn A G 12: 59,115,553 (GRCm39) E99G probably damaging Het
Prkrip1 A T 5: 136,218,478 (GRCm39) probably null Het
Rnf133 A G 6: 23,649,486 (GRCm39) F191L probably benign Het
Scn10a T C 9: 119,438,848 (GRCm39) T1674A probably damaging Het
Sdccag8 G A 1: 176,839,501 (GRCm39) V682M probably damaging Het
Spi1 T C 2: 90,944,741 (GRCm39) L162P probably damaging Het
Sptan1 C G 2: 29,920,985 (GRCm39) N2432K probably damaging Het
Stx2 A G 5: 129,064,884 (GRCm39) V271A probably benign Het
Sumf2 G A 5: 129,878,867 (GRCm39) D68N probably damaging Het
Tsc22d4 A G 5: 137,760,855 (GRCm39) E92G possibly damaging Het
Ube3c G T 5: 29,792,316 (GRCm39) R37L probably benign Het
Ubr5 A G 15: 38,002,814 (GRCm39) S1446P probably damaging Het
Veph1 T C 3: 66,162,505 (GRCm39) N51S probably damaging Het
Vmn1r82 T C 7: 12,039,290 (GRCm39) F70L possibly damaging Het
Vmn2r92 A G 17: 18,389,084 (GRCm39) N466S probably damaging Het
Vwf T A 6: 125,634,164 (GRCm39) V2153D possibly damaging Het
Yeats2 A G 16: 19,998,344 (GRCm39) T300A probably benign Het
Zc3h12d G T 10: 7,715,735 (GRCm39) R46L probably damaging Het
Zfp516 T C 18: 82,973,916 (GRCm39) I38T probably damaging Het
Zic5 G A 14: 122,697,100 (GRCm39) T505I unknown Het
Zpld1 C T 16: 55,072,034 (GRCm39) G75E probably damaging Het
Other mutations in Kcnk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02555:Kcnk5 APN 14 20,192,053 (GRCm39) missense probably benign 0.27
IGL02672:Kcnk5 APN 14 20,196,580 (GRCm39) missense probably damaging 1.00
IGL02716:Kcnk5 APN 14 20,231,496 (GRCm39) missense probably damaging 1.00
IGL03253:Kcnk5 APN 14 20,192,405 (GRCm39) missense probably benign 0.21
R1553:Kcnk5 UTSW 14 20,192,462 (GRCm39) missense probably damaging 1.00
R1693:Kcnk5 UTSW 14 20,191,964 (GRCm39) missense probably damaging 0.99
R1742:Kcnk5 UTSW 14 20,191,925 (GRCm39) missense probably benign 0.00
R2051:Kcnk5 UTSW 14 20,192,277 (GRCm39) missense probably damaging 1.00
R2415:Kcnk5 UTSW 14 20,191,880 (GRCm39) missense possibly damaging 0.61
R4230:Kcnk5 UTSW 14 20,194,852 (GRCm39) missense probably damaging 1.00
R6637:Kcnk5 UTSW 14 20,194,789 (GRCm39) missense probably null 1.00
R7552:Kcnk5 UTSW 14 20,192,349 (GRCm39) missense probably benign 0.31
R8948:Kcnk5 UTSW 14 20,192,046 (GRCm39) missense probably benign
R8950:Kcnk5 UTSW 14 20,192,046 (GRCm39) missense probably benign
R9175:Kcnk5 UTSW 14 20,192,117 (GRCm39) missense probably benign 0.14
R9185:Kcnk5 UTSW 14 20,195,135 (GRCm39) nonsense probably null
R9437:Kcnk5 UTSW 14 20,192,468 (GRCm39) missense probably damaging 1.00
Z1177:Kcnk5 UTSW 14 20,231,442 (GRCm39) nonsense probably null
Z1177:Kcnk5 UTSW 14 20,195,118 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTAACATCTATCAGGTGCCC -3'
(R):5'- TGAGCCTGGTATGTTCCTAAC -3'

Sequencing Primer
(F):5'- TATCAGGTGCCCAACAAAGGTCTG -3'
(R):5'- GAGCCTGGTATGTTCCTAACCTTAG -3'
Posted On 2018-10-18