Incidental Mutation 'R6375:Kcnk9'
ID 514931
Institutional Source Beutler Lab
Gene Symbol Kcnk9
Ensembl Gene ENSMUSG00000036760
Gene Name potassium channel, subfamily K, member 9
Synonyms Task3
MMRRC Submission 044525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6375 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 72372938-72418189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72418092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 13 (A13T)
Ref Sequence ENSEMBL: ENSMUSP00000038729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044624]
AlphaFold Q3LS21
Predicted Effect probably benign
Transcript: ENSMUST00000044624
AA Change: A13T

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038729
Gene: ENSMUSG00000036760
AA Change: A13T

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (45/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,536 (GRCm39) I797N possibly damaging Het
Actbl2 A G 13: 111,392,478 (GRCm39) E271G probably damaging Het
Aplp2 T C 9: 31,069,084 (GRCm39) N526D probably benign Het
Cacna1e A C 1: 154,355,051 (GRCm39) N389K probably damaging Het
Ccdc18 T C 5: 108,322,820 (GRCm39) I640T possibly damaging Het
Ccdc39 T A 3: 33,868,516 (GRCm39) T857S probably benign Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Efhc1 T A 1: 21,043,164 (GRCm39) M361K probably benign Het
Eml5 T C 12: 98,765,127 (GRCm39) Het
Fgfr2 C A 7: 129,769,475 (GRCm39) L637F probably damaging Het
Fmo9 A G 1: 166,492,164 (GRCm39) probably null Het
Gm4302 A G 10: 100,177,258 (GRCm39) T181A probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hoxb4 A G 11: 96,211,153 (GRCm39) *251W probably null Het
Il1r1 T A 1: 40,334,050 (GRCm39) Y207N probably damaging Het
Kcnc2 C T 10: 112,299,094 (GRCm39) T622M possibly damaging Het
Kdm4c C T 4: 74,248,952 (GRCm39) P69S probably damaging Het
Kmt2e T C 5: 23,704,517 (GRCm39) S1237P probably benign Het
Lrrc37a G A 11: 103,391,915 (GRCm39) T1170I probably benign Het
Lyn T A 4: 3,745,527 (GRCm39) F109I probably damaging Het
Lynx1 T C 15: 74,623,168 (GRCm39) Y88C probably damaging Het
Mon1b T A 8: 114,364,709 (GRCm39) I162N probably damaging Het
Muc4 A G 16: 32,555,061 (GRCm39) probably benign Het
Nbn T A 4: 15,979,327 (GRCm39) F437L probably benign Het
Neil3 T C 8: 54,040,311 (GRCm39) K564E possibly damaging Het
Nfe2l1 A T 11: 96,710,877 (GRCm39) S293T probably damaging Het
Or10al5 T A 17: 38,062,990 (GRCm39) S82T probably benign Het
Or14c39 C T 7: 86,344,267 (GRCm39) A201V probably benign Het
Or2ag2 C A 7: 106,485,221 (GRCm39) A268S probably benign Het
Or51g2 T C 7: 102,622,960 (GRCm39) T80A probably damaging Het
Pcdhb22 A T 18: 37,651,357 (GRCm39) probably benign Het
Pcdhgb6 A G 18: 37,875,678 (GRCm39) N129D probably damaging Het
Pias2 C T 18: 77,240,366 (GRCm39) T574M possibly damaging Het
Plec G A 15: 76,061,840 (GRCm39) T2564I probably damaging Het
Qrich2 A G 11: 116,349,054 (GRCm39) probably benign Het
Scgb1b12 T A 7: 32,033,884 (GRCm39) V48E probably damaging Het
Scn5a A T 9: 119,372,422 (GRCm39) L224Q probably damaging Het
Snx3 T A 10: 42,410,727 (GRCm39) Y132* probably null Het
Stk39 T A 2: 68,222,582 (GRCm39) I161F probably benign Het
Tcaf2 A C 6: 42,603,112 (GRCm39) L816R probably damaging Het
Thap4 C A 1: 93,652,878 (GRCm39) probably null Het
Tmc5 T A 7: 118,256,037 (GRCm39) V704E probably damaging Het
Tmem39a A G 16: 38,405,599 (GRCm39) T59A probably benign Het
Tshz2 A G 2: 169,727,939 (GRCm39) N376S probably damaging Het
Vmn1r60 T C 7: 5,548,017 (GRCm39) N28D probably damaging Het
Zfp637 C T 6: 117,822,285 (GRCm39) R138W probably damaging Het
Other mutations in Kcnk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Kcnk9 APN 15 72,417,924 (GRCm39) missense probably benign 0.25
IGL02569:Kcnk9 APN 15 72,384,426 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GGCGAATTTCCACTGGACAC -3'
(R):5'- CCCAAGAGGAGACCGAAATTTC -3'

Sequencing Primer
(F):5'- CGGTGGGGCTCAGACTG -3'
(R):5'- CGAAATTTCCAACATCAGCTGTGG -3'
Posted On 2018-05-04