Incidental Mutation 'IGL02555:Kcnk5'
ID298464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk5
Ensembl Gene ENSMUSG00000023243
Gene Namepotassium channel, subfamily K, member 5
SynonymsTASK-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02555
Quality Score
Status
Chromosome14
Chromosomal Location20140057-20181809 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20141985 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 369 (H369Q)
Ref Sequence ENSEMBL: ENSMUSP00000024011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024011]
Predicted Effect probably benign
Transcript: ENSMUST00000024011
AA Change: H369Q

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024011
Gene: ENSMUSG00000023243
AA Change: H369Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226090
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik G T 15: 74,881,608 probably benign Het
Actr1b G A 1: 36,701,747 R199C probably damaging Het
Adam9 T C 8: 24,966,736 N661D probably damaging Het
Amy1 C T 3: 113,564,892 E164K probably benign Het
Arid5b A C 10: 68,101,904 D221E probably benign Het
B3galt1 G T 2: 68,118,561 V207F probably benign Het
Begain A G 12: 109,034,189 S219P probably damaging Het
Clip1 A G 5: 123,621,794 probably null Het
Cps1 A G 1: 67,214,021 K1224R probably benign Het
Dnm1 A G 2: 32,328,038 Y449H probably damaging Het
Epas1 A T 17: 86,829,064 M755L probably benign Het
F13b T C 1: 139,517,186 C525R probably damaging Het
Fmnl2 A G 2: 53,126,851 probably null Het
Gm5346 A T 8: 43,625,268 C640S probably damaging Het
Ighv5-15 A G 12: 113,827,115 F3L probably benign Het
Inpp4a A G 1: 37,379,968 Q538R possibly damaging Het
Insrr A T 3: 87,813,817 M1092L probably damaging Het
Itgb8 C T 12: 119,189,881 V300M probably damaging Het
Olfr1023 G A 2: 85,887,398 M199I probably benign Het
Olfr1249 G A 2: 89,630,203 R232C probably damaging Het
Olfr1294 A G 2: 111,537,917 V124A probably damaging Het
Olfr24 T A 9: 18,755,473 H54L probably benign Het
Plxdc2 A G 2: 16,729,341 I417M probably benign Het
Polr1a G A 6: 71,920,457 E186K probably damaging Het
Ppp3cb A T 14: 20,530,953 F134L probably damaging Het
Prox2 C T 12: 85,095,260 W56* probably null Het
Scaf4 C T 16: 90,250,305 A395T unknown Het
Sh3tc2 G T 18: 61,990,237 A690S probably damaging Het
Slc34a1 T C 13: 55,401,168 S144P possibly damaging Het
Slc6a6 C T 6: 91,748,330 probably benign Het
Tubgcp3 A T 8: 12,639,595 M557K probably benign Het
Vmn2r103 A T 17: 19,811,611 D549V probably damaging Het
Washc2 T A 6: 116,209,100 N90K probably damaging Het
Other mutations in Kcnk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02672:Kcnk5 APN 14 20146512 missense probably damaging 1.00
IGL02716:Kcnk5 APN 14 20181428 missense probably damaging 1.00
IGL03253:Kcnk5 APN 14 20142337 missense probably benign 0.21
R1553:Kcnk5 UTSW 14 20142394 missense probably damaging 1.00
R1693:Kcnk5 UTSW 14 20141896 missense probably damaging 0.99
R1742:Kcnk5 UTSW 14 20141857 missense probably benign 0.00
R2051:Kcnk5 UTSW 14 20142209 missense probably damaging 1.00
R2415:Kcnk5 UTSW 14 20141812 missense possibly damaging 0.61
R4230:Kcnk5 UTSW 14 20144784 missense probably damaging 1.00
R6637:Kcnk5 UTSW 14 20144721 missense probably null 1.00
R6877:Kcnk5 UTSW 14 20144716 missense possibly damaging 0.69
Posted On2015-04-16