Incidental Mutation 'IGL02569:Kcnk9'
ID298951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk9
Ensembl Gene ENSMUSG00000036760
Gene Namepotassium channel, subfamily K, member 9
SynonymsTask3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #IGL02569
Quality Score
Status
Chromosome15
Chromosomal Location72501089-72546340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72512577 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 251 (T251A)
Ref Sequence ENSEMBL: ENSMUSP00000038729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044624]
Predicted Effect probably benign
Transcript: ENSMUST00000044624
AA Change: T251A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038729
Gene: ENSMUSG00000036760
AA Change: T251A

DomainStartEndE-ValueType
low complexity region 34 49 N/A INTRINSIC
Pfam:Ion_trans_2 59 134 3.4e-20 PFAM
Pfam:Ion_trans_2 165 248 1.7e-18 PFAM
low complexity region 308 323 N/A INTRINSIC
low complexity region 325 347 N/A INTRINSIC
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 a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased pH sensitive action potential in serotonergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A C 7: 140,298,362 I885L probably benign Het
Abca1 T C 4: 53,034,061 D2223G probably damaging Het
Brd1 A G 15: 88,713,929 L538P probably damaging Het
Cacna2d2 T C 9: 107,514,046 V424A probably damaging Het
Capg A C 6: 72,561,049 E306A probably damaging Het
Cdc14b T C 13: 64,225,614 Y115C probably benign Het
Crat G A 2: 30,404,530 R509W probably damaging Het
Ddx60 A G 8: 62,024,951 N1594S possibly damaging Het
Fabp2 T C 3: 122,895,464 F18L probably damaging Het
Fam187a A G 11: 102,886,159 K263R probably benign Het
Fam227a C T 15: 79,634,122 C323Y probably benign Het
Fas A G 19: 34,320,562 E210G possibly damaging Het
Fgfbp1 A G 5: 43,979,227 F241S probably damaging Het
Gramd1a A T 7: 31,130,507 probably benign Het
Hmcn1 A T 1: 150,697,493 M2135K probably benign Het
Ikbkb G T 8: 22,693,883 Q84K probably damaging Het
Mphosph9 C A 5: 124,297,571 E600* probably null Het
Olfr694 T A 7: 106,689,642 T30S probably benign Het
Olfr705 T A 7: 106,714,586 I32L probably benign Het
Pde1a C A 2: 79,868,258 K341N probably benign Het
Prune2 A G 19: 17,178,859 N2792S probably damaging Het
Slc17a3 A G 13: 23,846,302 Y132C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St6galnac1 T C 11: 116,767,702 D312G probably damaging Het
Tardbp A G 4: 148,619,182 probably null Het
Tex9 C T 9: 72,478,363 V8I probably damaging Het
Tpr T A 1: 150,425,631 probably benign Het
Ttll8 C T 15: 88,933,926 W182* probably null Het
Vmn2r61 G A 7: 42,276,646 G525E probably damaging Het
Zfp111 T C 7: 24,207,069 T2A possibly damaging Het
Other mutations in Kcnk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Kcnk9 APN 15 72546075 missense probably benign 0.25
PIT4520001:Kcnk9 UTSW 15 72512483 missense probably benign 0.00
R0412:Kcnk9 UTSW 15 72513056 splice site probably benign
R1507:Kcnk9 UTSW 15 72512234 missense possibly damaging 0.59
R1780:Kcnk9 UTSW 15 72512401 missense unknown
R1800:Kcnk9 UTSW 15 72546099 missense probably benign 0.04
R2989:Kcnk9 UTSW 15 72512358 missense unknown
R4089:Kcnk9 UTSW 15 72546263 missense probably benign 0.40
R4710:Kcnk9 UTSW 15 72512975 missense probably damaging 1.00
R6375:Kcnk9 UTSW 15 72546243 missense probably benign 0.35
Z1088:Kcnk9 UTSW 15 72546015 missense possibly damaging 0.95
Posted On2015-04-16