Incidental Mutation 'IGL02569:Kcnk9'
ID 298951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk9
Ensembl Gene ENSMUSG00000036760
Gene Name potassium channel, subfamily K, member 9
Synonyms Task3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL02569
Quality Score
Status
Chromosome 15
Chromosomal Location 72372938-72418189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72384426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 251 (T251A)
Ref Sequence ENSEMBL: ENSMUSP00000038729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044624]
AlphaFold Q3LS21
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
Abca1 T C 4: 53,034,061 (GRCm39) D2223G probably damaging Het
Brd1 A G 15: 88,598,132 (GRCm39) L538P probably damaging Het
Cacna2d2 T C 9: 107,391,245 (GRCm39) V424A probably damaging Het
Capg A C 6: 72,538,032 (GRCm39) E306A probably damaging Het
Cdc14b T C 13: 64,373,428 (GRCm39) Y115C probably benign Het
Crat G A 2: 30,294,542 (GRCm39) R509W probably damaging Het
Ddx60 A G 8: 62,477,985 (GRCm39) N1594S possibly damaging Het
Fabp2 T C 3: 122,689,113 (GRCm39) F18L probably damaging Het
Fam187a A G 11: 102,776,985 (GRCm39) K263R probably benign Het
Fam227a C T 15: 79,518,323 (GRCm39) C323Y probably benign Het
Fas A G 19: 34,297,962 (GRCm39) E210G possibly damaging Het
Fgfbp1 A G 5: 44,136,569 (GRCm39) F241S probably damaging Het
Gramd1a A T 7: 30,829,932 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,573,244 (GRCm39) M2135K probably benign Het
Ikbkb G T 8: 23,183,899 (GRCm39) Q84K probably damaging Het
Mphosph9 C A 5: 124,435,634 (GRCm39) E600* probably null Het
Or2ag1 T A 7: 106,313,793 (GRCm39) I32L probably benign Het
Or2ag1b T A 7: 106,288,849 (GRCm39) T30S probably benign Het
Pde1a C A 2: 79,698,602 (GRCm39) K341N probably benign Het
Prune2 A G 19: 17,156,223 (GRCm39) N2792S probably damaging Het
Scart2 A C 7: 139,878,275 (GRCm39) I885L probably benign Het
Slc17a3 A G 13: 24,030,285 (GRCm39) Y132C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St6galnac1 T C 11: 116,658,528 (GRCm39) D312G probably damaging Het
Tardbp A G 4: 148,703,639 (GRCm39) probably null Het
Tex9 C T 9: 72,385,645 (GRCm39) V8I probably damaging Het
Tpr T A 1: 150,301,382 (GRCm39) probably benign Het
Ttll8 C T 15: 88,818,129 (GRCm39) W182* probably null Het
Vmn2r61 G A 7: 41,926,070 (GRCm39) G525E probably damaging Het
Zfp111 T C 7: 23,906,494 (GRCm39) T2A possibly damaging Het
Other mutations in Kcnk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Kcnk9 APN 15 72,417,924 (GRCm39) missense probably benign 0.25
PIT4520001:Kcnk9 UTSW 15 72,384,332 (GRCm39) missense probably benign 0.00
R0412:Kcnk9 UTSW 15 72,384,905 (GRCm39) splice site probably benign
R1507:Kcnk9 UTSW 15 72,384,083 (GRCm39) missense possibly damaging 0.59
R1780:Kcnk9 UTSW 15 72,384,250 (GRCm39) missense unknown
R1800:Kcnk9 UTSW 15 72,417,948 (GRCm39) missense probably benign 0.04
R2989:Kcnk9 UTSW 15 72,384,207 (GRCm39) missense unknown
R4089:Kcnk9 UTSW 15 72,418,112 (GRCm39) missense probably benign 0.40
R4710:Kcnk9 UTSW 15 72,384,824 (GRCm39) missense probably damaging 1.00
R6375:Kcnk9 UTSW 15 72,418,092 (GRCm39) missense probably benign 0.35
R8838:Kcnk9 UTSW 15 72,418,019 (GRCm39) missense possibly damaging 0.91
R9274:Kcnk9 UTSW 15 72,384,224 (GRCm39) missense unknown
Z1088:Kcnk9 UTSW 15 72,417,864 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16