Incidental Mutation 'IGL02672:Kcnk5'
ID 302971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk5
Ensembl Gene ENSMUSG00000023243
Gene Name potassium channel, subfamily K, member 5
Synonyms TASK-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02672
Quality Score
Status
Chromosome 14
Chromosomal Location 20190125-20231850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20196580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 96 (I96T)
Ref Sequence ENSEMBL: ENSMUSP00000024011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024011]
AlphaFold Q9JK62
Predicted Effect probably damaging
Transcript: ENSMUST00000024011
AA Change: I96T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024011
Gene: ENSMUSG00000023243
AA Change: I96T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225552
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Kcnk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02555:Kcnk5 APN 14 20,192,053 (GRCm39) missense probably benign 0.27
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
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
Posted On 2015-04-16