Incidental Mutation 'R8838:Kcnk9'
ID 674292
Institutional Source Beutler Lab
Gene Symbol Kcnk9
Ensembl Gene ENSMUSG00000036760
Gene Name potassium channel, subfamily K, member 9
Synonyms Task3
MMRRC Submission 068666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R8838 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 72372938-72418189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72418019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 37 (E37G)
Ref Sequence ENSEMBL: ENSMUSP00000038729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044624]
AlphaFold Q3LS21
Predicted Effect possibly damaging
Transcript: ENSMUST00000044624
AA Change: E37G

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038729
Gene: ENSMUSG00000036760
AA Change: E37G

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: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 109,920,881 (GRCm39) I1498F probably damaging Het
Aco2 T A 15: 81,796,128 (GRCm39) N508K probably damaging Het
Aff4 T C 11: 53,297,465 (GRCm39) S896P possibly damaging Het
Anapc2 T G 2: 25,163,546 (GRCm39) V261G probably benign Het
Atm A G 9: 53,427,851 (GRCm39) S420P probably damaging Het
Bag6 C T 17: 35,363,367 (GRCm39) R736C probably damaging Het
Brca2 A G 5: 150,465,005 (GRCm39) T1590A possibly damaging Het
Cacna2d3 C T 14: 28,691,220 (GRCm39) C35Y probably benign Het
Cep170b G A 12: 112,710,159 (GRCm39) R1433H probably damaging Het
Cmtm2a A G 8: 105,008,036 (GRCm39) C138R probably damaging Het
Cntnap5c T A 17: 58,198,964 (GRCm39) V86E Het
Cog7 A G 7: 121,549,106 (GRCm39) I385T probably damaging Het
Col28a1 A T 6: 8,091,839 (GRCm39) probably null Het
Dkk3 T C 7: 111,717,542 (GRCm39) E309G probably benign Het
Dnah10 T C 5: 124,842,614 (GRCm39) V1411A probably benign Het
Enox1 G T 14: 77,819,950 (GRCm39) R235L probably benign Het
Foxn1 T C 11: 78,252,438 (GRCm39) N317D possibly damaging Het
Grip2 G A 6: 91,762,721 (GRCm39) probably benign Het
Hmmr T C 11: 40,604,854 (GRCm39) T406A probably benign Het
Hpcal1 G A 12: 17,836,197 (GRCm39) R9H probably benign Het
Iglv3 A T 16: 19,060,132 (GRCm39) Y65* probably null Het
Itgal A G 7: 126,910,433 (GRCm39) Y514C probably damaging Het
Klhl40 A G 9: 121,609,107 (GRCm39) D424G probably benign Het
Lbr A G 1: 181,648,294 (GRCm39) L389P possibly damaging Het
Ly9 A G 1: 171,421,569 (GRCm39) Y561H probably damaging Het
Mcoln3 T C 3: 145,845,126 (GRCm39) F441L probably damaging Het
Muc20 G T 16: 32,613,829 (GRCm39) T516K possibly damaging Het
Naa35 T C 13: 59,775,775 (GRCm39) M551T probably benign Het
Nkx6-2 T A 7: 139,161,868 (GRCm39) T170S probably damaging Het
Nlrp4c T A 7: 6,069,337 (GRCm39) F413I Het
Or10w1 G A 19: 13,632,371 (GRCm39) V193M probably damaging Het
Or1s2 C A 19: 13,758,381 (GRCm39) T133K probably benign Het
Or6c1b T G 10: 129,273,065 (GRCm39) L128R probably damaging Het
Or8k22 T C 2: 86,163,317 (GRCm39) K128E possibly damaging Het
Pcdhga10 C T 18: 37,881,952 (GRCm39) T571I possibly damaging Het
Pla2g4a A T 1: 149,747,256 (GRCm39) M310K probably benign Het
Plaa T C 4: 94,471,791 (GRCm39) T353A probably benign Het
Rapgef1 T C 2: 29,627,458 (GRCm39) F1172S possibly damaging Het
Rfx2 T C 17: 57,087,877 (GRCm39) T505A possibly damaging Het
Rfx4 T C 10: 84,676,758 (GRCm39) V216A probably damaging Het
Rps6kb2 G T 19: 4,211,183 (GRCm39) A114D probably damaging Het
Sdc2 T A 15: 33,023,897 (GRCm39) L92* probably null Het
Slc18b1 A G 10: 23,696,764 (GRCm39) Y319C probably benign Het
Slc22a15 A T 3: 101,790,849 (GRCm39) Y219N probably damaging Het
Tarbp1 A T 8: 127,177,569 (GRCm39) probably benign Het
Tfap2d T C 1: 19,175,036 (GRCm39) L163P possibly damaging Het
Trank1 A G 9: 111,193,973 (GRCm39) I666V probably benign Het
Trav14-1 G T 14: 53,792,009 (GRCm39) A120S probably damaging Het
Trps1 T A 15: 50,753,007 (GRCm39) N20I probably benign Het
Txndc16 A G 14: 45,378,028 (GRCm39) Y682H probably damaging Het
Ube4a A T 9: 44,837,261 (GRCm39) D991E probably damaging Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q 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
R6375:Kcnk9 UTSW 15 72,418,092 (GRCm39) missense probably benign 0.35
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'- TCCTTACCGATAGTTGTGATGACAG -3'
(R):5'- TACCACCGCTTGCAACTTCG -3'

Sequencing Primer
(F):5'- ACCGATAGTTGTGATGACAGTGATG -3'
(R):5'- CTCCATCGTAGAGGAGGCTTG -3'
Posted On 2021-07-15