Incidental Mutation 'R4089:Kcnk9'
ID 317530
Institutional Source Beutler Lab
Gene Symbol Kcnk9
Ensembl Gene ENSMUSG00000036760
Gene Name potassium channel, subfamily K, member 9
Synonyms Task3
MMRRC Submission 040982-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R4089 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 72372938-72418189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72418112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 6 (V6A)
Ref Sequence ENSEMBL: ENSMUSP00000038729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044624]
AlphaFold Q3LS21
Predicted Effect probably benign
Transcript: ENSMUST00000044624
AA Change: V6A

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038729
Gene: ENSMUSG00000036760
AA Change: V6A

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
Meta Mutation Damage Score 0.1205 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (51/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
A530064D06Rik A G 17: 48,473,678 (GRCm39) S80P probably damaging Het
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Actr5 T C 2: 158,467,022 (GRCm39) probably benign Het
Arhgef17 T A 7: 100,533,006 (GRCm39) E1173V probably damaging Het
Brca1 T C 11: 101,415,002 (GRCm39) N1044S possibly damaging Het
Cap1 A G 4: 122,756,202 (GRCm39) V398A probably benign Het
Cbs A C 17: 31,851,980 (GRCm39) C8G probably benign Het
Csmd1 T A 8: 16,042,738 (GRCm39) I2332F probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dip2a T C 10: 76,114,323 (GRCm39) probably null Het
Dock9 A T 14: 121,820,883 (GRCm39) C1494S probably damaging Het
Ehbp1 A T 11: 22,045,898 (GRCm39) L592Q possibly damaging Het
Fbn2 C T 18: 58,186,841 (GRCm39) D1687N probably benign Het
Flt1 C A 5: 147,501,051 (GRCm39) L1327F probably benign Het
Frem3 T C 8: 81,341,802 (GRCm39) F1365S probably damaging Het
Gigyf2 A G 1: 87,371,394 (GRCm39) E1169G probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm14443 T C 2: 175,013,685 (GRCm39) Y29C probably damaging Het
Gpr108 A G 17: 57,544,925 (GRCm39) Y313H probably damaging Het
Ifngr1 T C 10: 19,477,233 (GRCm39) probably null Het
Il31ra C T 13: 112,688,453 (GRCm39) W41* probably null Het
Ints4 T A 7: 97,178,462 (GRCm39) Y687* probably null Het
Jpt2 A G 17: 25,175,076 (GRCm39) S37P probably benign Het
Lamc3 C T 2: 31,810,520 (GRCm39) R797* probably null Het
Lrig1 A G 6: 94,586,840 (GRCm39) I612T possibly damaging Het
Mapk4 C A 18: 74,063,530 (GRCm39) C564F probably damaging Het
Marveld2 T A 13: 100,736,988 (GRCm39) H215L probably benign Het
Mindy3 T C 2: 12,369,327 (GRCm39) M84V probably benign Het
Nek3 T C 8: 22,639,929 (GRCm39) D182G probably damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Pkp3 G A 7: 140,664,056 (GRCm39) R411H probably damaging Het
Plau A G 14: 20,891,134 (GRCm39) D366G probably damaging Het
Prkd3 A G 17: 79,278,817 (GRCm39) M423T possibly damaging Het
Prmt9 A T 8: 78,299,174 (GRCm39) I623L probably benign Het
Rgs6 A T 12: 83,110,261 (GRCm39) E175D probably damaging Het
Rnf135 G A 11: 80,089,872 (GRCm39) G403S probably damaging Het
Scn11a C T 9: 119,624,719 (GRCm39) probably null Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sos1 A G 17: 80,756,781 (GRCm39) V257A probably benign Het
Sox10 C T 15: 79,040,563 (GRCm39) V165M possibly damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Tex14 A G 11: 87,403,029 (GRCm39) D533G probably damaging Het
Topbp1 T C 9: 103,201,700 (GRCm39) probably null Het
Trim30d T C 7: 104,137,007 (GRCm39) N66D probably damaging Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Trip4 A G 9: 65,765,565 (GRCm39) V378A probably benign Het
Vmn2r115 A C 17: 23,565,358 (GRCm39) Q415P probably benign Het
Washc2 A T 6: 116,233,253 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- AACCGGCGAATTTCCACTGG -3'
(R):5'- GGAGACCGAAATTTCCAACATC -3'

Sequencing Primer
(F):5'- GCTCAGACTGCAGGATTACCAG -3'
(R):5'- AACATCAGCTGTGGCATCTG -3'
Posted On 2015-05-15