Incidental Mutation 'R2989:Kcnk9'
ID 257874
Institutional Source Beutler Lab
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: 0.137) question?
Stock # R2989 (G1)
Quality Score 199
Status Not validated
Chromosome 15
Chromosomal Location 72372938-72418189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72384207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 324 (T324A)
Ref Sequence ENSEMBL: ENSMUSP00000038729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044624]
AlphaFold Q3LS21
Predicted Effect unknown
Transcript: ENSMUST00000044624
AA Change: T324A
SMART Domains Protein: ENSMUSP00000038729
Gene: ENSMUSG00000036760
AA Change: T324A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,729,866 (GRCm39) T205I probably damaging Het
Arhgap32 T A 9: 32,150,694 (GRCm39) N31K possibly damaging Het
C1galt1 A G 6: 7,866,622 (GRCm39) D156G possibly damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Coil C A 11: 88,878,805 (GRCm39) A520D probably damaging Het
Cpe G T 8: 65,050,549 (GRCm39) N386K probably benign Het
Fat4 T C 3: 39,061,302 (GRCm39) I4295T probably benign Het
Foxn1 C G 11: 78,249,603 (GRCm39) G641R possibly damaging Het
G530012D18Rik GAGAGAGACAGAGAGACAGAGA GAGAGAGACAGAGA 1: 85,504,937 (GRCm39) probably null Het
Intu A G 3: 40,647,140 (GRCm39) K671R probably benign Het
Jup T C 11: 100,267,667 (GRCm39) D552G possibly damaging Het
Mettl5 G T 2: 69,711,659 (GRCm39) A69E probably damaging Het
Or8b3b A T 9: 38,583,831 (GRCm39) M303K probably benign Het
Rpf2 A G 10: 40,115,749 (GRCm39) S77P probably benign Het
Sgo1 A G 17: 53,994,162 (GRCm39) Y97H probably benign Het
Srsf12 T C 4: 33,223,599 (GRCm39) Y33H probably damaging Het
Tcerg1 T A 18: 42,652,540 (GRCm39) M56K unknown Het
Trafd1 T C 5: 121,517,529 (GRCm39) T63A probably damaging Het
Ttc28 G A 5: 111,371,881 (GRCm39) V777I probably benign Het
Ubr4 A G 4: 139,190,869 (GRCm39) E937G possibly damaging Het
Zfp677 T C 17: 21,617,114 (GRCm39) I57T probably benign Het
Zfp981 T A 4: 146,622,347 (GRCm39) I424N probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTTAGATGGACTTGCGACGGAG -3'
(R):5'- AAGAAGAGTGTCTGTCCGTG -3'

Sequencing Primer
(F):5'- CAGGTGTGCATTCCAGGAG -3'
(R):5'- TGTCCGTGCGCCTCAGAG -3'
Posted On 2015-01-11