Incidental Mutation 'R9175:Kcnk5'
ID 696640
Institutional Source Beutler Lab
Gene Symbol Kcnk5
Ensembl Gene ENSMUSG00000023243
Gene Name potassium channel, subfamily K, member 5
Synonyms TASK-2
MMRRC Submission 068948-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R9175 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20190125-20231850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20192117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 348 (V348D)
Ref Sequence ENSEMBL: ENSMUSP00000024011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024011]
AlphaFold Q9JK62
Predicted Effect probably benign
Transcript: ENSMUST00000024011
AA Change: V348D

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000024011
Gene: ENSMUSG00000023243
AA Change: V348D

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G A 7: 12,249,412 (GRCm39) D82N probably benign Het
Abca13 A G 11: 9,531,593 (GRCm39) K4607E probably damaging Het
Agpat4 G C 17: 12,417,669 (GRCm39) G70A probably damaging Het
Ank2 G A 3: 126,722,402 (GRCm39) T1017I possibly damaging Het
C2cd2 T C 16: 97,678,421 (GRCm39) I339V probably benign Het
Cacna1a A T 8: 85,296,644 (GRCm39) N1221Y probably damaging Het
Cacna1e A G 1: 154,274,314 (GRCm39) V2197A probably damaging Het
Ccdc74a T C 16: 17,468,042 (GRCm39) S101P probably benign Het
Cdh13 A T 8: 119,968,968 (GRCm39) I442F probably damaging Het
Cnot2 A T 10: 116,334,051 (GRCm39) M373K possibly damaging Het
Coch C A 12: 51,645,060 (GRCm39) H205N possibly damaging Het
Col6a4 A G 9: 105,957,560 (GRCm39) V88A probably benign Het
Erich3 A G 3: 154,419,601 (GRCm39) T35A probably benign Het
Gm28360 A T 1: 117,781,328 (GRCm39) K106N possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hspg2 T C 4: 137,256,657 (GRCm39) F1467L probably damaging Het
Ighg2c T C 12: 113,252,499 (GRCm39) T18A Het
Iqcm A G 8: 76,710,867 (GRCm39) K472E possibly damaging Het
Kcns3 C T 12: 11,169,801 (GRCm39) probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Muc5ac A G 7: 141,366,093 (GRCm39) D2787G possibly damaging Het
Nasp A G 4: 116,471,576 (GRCm39) C84R probably damaging Het
Nfia G A 4: 97,671,362 (GRCm39) R24H probably damaging Het
Opa3 C T 7: 18,989,466 (GRCm39) R110C probably damaging Het
Or2t48 T C 11: 58,420,590 (GRCm39) D74G probably damaging Het
Or8k25 A G 2: 86,244,099 (GRCm39) I99T probably benign Het
Pdia4 A C 6: 47,775,417 (GRCm39) S464R possibly damaging Het
Rab3gap2 A G 1: 185,009,360 (GRCm39) D1092G probably damaging Het
Rev3l A G 10: 39,730,764 (GRCm39) K2763E possibly damaging Het
Sanbr A T 11: 23,534,518 (GRCm39) probably null Het
Sorbs1 A T 19: 40,315,018 (GRCm39) L598Q probably damaging Het
Sppl2b A T 10: 80,698,807 (GRCm39) M154L probably benign Het
Stk33 A G 7: 108,920,724 (GRCm39) I331T probably damaging Het
Strip2 A G 6: 29,933,035 (GRCm39) E494G probably benign Het
Supt6 C T 11: 78,112,052 (GRCm39) R1010Q possibly damaging Het
Tada1 G A 1: 166,210,005 (GRCm39) R69H probably damaging Het
Tent4a A G 13: 69,663,915 (GRCm39) L268P probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tomm34 A G 2: 163,912,385 (GRCm39) probably null Het
Tpi1 T C 6: 124,788,871 (GRCm39) T223A probably damaging Het
Trpc3 T A 3: 36,709,279 (GRCm39) N399I probably benign Het
Vgll2 A G 10: 51,903,635 (GRCm39) H166R probably damaging Het
Vmn2r107 A T 17: 20,577,051 (GRCm39) I350F possibly damaging Het
Vmn2r114 T A 17: 23,527,212 (GRCm39) K440M probably damaging Het
Vmn2r55 T C 7: 12,385,793 (GRCm39) Y729C possibly damaging Het
Zfp106 G T 2: 120,353,197 (GRCm39) A1554E probably damaging Het
Zfyve27 A G 19: 42,169,997 (GRCm39) Y176C probably damaging Het
Zswim5 T A 4: 116,822,941 (GRCm39) N470K probably benign 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
R6877:Kcnk5 UTSW 14 20,194,784 (GRCm39) missense possibly damaging 0.69
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
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'- GGCATTTTGGAAGATGAGCG -3'
(R):5'- GGACGTCAACATCTTCAGCTTC -3'

Sequencing Primer
(F):5'- TGGTAGTCCAGGGCTTCC -3'
(R):5'- TCTTCAGCTTCCTATCCAAAAAGG -3'
Posted On 2022-02-07