Incidental Mutation 'R6344:Kcnj9'
ID 514033
Institutional Source Beutler Lab
Gene Symbol Kcnj9
Ensembl Gene ENSMUSG00000038026
Gene Name potassium inwardly-rectifying channel, subfamily J, member 9
Synonyms 1700085N21Rik, Kir3.3, Girk3
MMRRC Submission 044498-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6344 (G1)
Quality Score 202.009
Status Not validated
Chromosome 1
Chromosomal Location 172148075-172156889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172153713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 137 (V137A)
Ref Sequence ENSEMBL: ENSMUSP00000141633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062387] [ENSMUST00000194204]
AlphaFold P48543
Predicted Effect probably benign
Transcript: ENSMUST00000062387
AA Change: V137A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026
AA Change: V137A

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:IRK 25 350 3.1e-142 PFAM
low complexity region 362 377 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192957
Predicted Effect probably benign
Transcript: ENSMUST00000194204
AA Change: V137A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026
AA Change: V137A

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:IRK 25 361 7.4e-165 PFAM
low complexity region 362 377 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194860
Meta Mutation Damage Score 0.0968 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.3%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus does not result in any overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,327,706 (GRCm39) P707L probably damaging Het
Bbip1 A G 19: 53,919,912 (GRCm39) V23A probably benign Het
Bdnf A T 2: 109,554,022 (GRCm39) Y132F probably benign Het
C4bp T C 1: 130,583,752 (GRCm39) D72G probably benign Het
Cdcp1 T A 9: 123,011,447 (GRCm39) K343N possibly damaging Het
Cep112 A T 11: 108,410,000 (GRCm39) Y472F probably damaging Het
Cops2 A T 2: 125,700,899 (GRCm39) probably benign Het
Cyp27a1 T C 1: 74,776,008 (GRCm39) probably null Het
Dnah7a T C 1: 53,436,349 (GRCm39) I3998V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dnhd1 A G 7: 105,343,817 (GRCm39) I1720M probably benign Het
Fkbpl A G 17: 34,864,544 (GRCm39) K104R probably damaging Het
Helq G T 5: 100,914,594 (GRCm39) A966E probably benign Het
Iba57 G A 11: 59,049,119 (GRCm39) P350L probably damaging Het
Iqgap3 T C 3: 87,989,401 (GRCm39) probably null Het
Kif19a G A 11: 114,672,777 (GRCm39) probably null Het
Kmt2a A T 9: 44,733,156 (GRCm39) probably benign Het
Lilra5 T A 7: 4,241,785 (GRCm39) F195I probably damaging Het
Mcm9 A G 10: 53,414,033 (GRCm39) I349T probably benign Het
Mlst8 A G 17: 24,696,300 (GRCm39) L143P probably damaging Het
Mrc1 T C 2: 14,248,985 (GRCm39) F174L probably damaging Het
Muc5b T A 7: 141,416,708 (GRCm39) L3218Q possibly damaging Het
Myo1h A G 5: 114,466,776 (GRCm39) S275G probably damaging Het
Myo5a T A 9: 75,067,791 (GRCm39) V615D probably benign Het
Myo9b T C 8: 71,780,558 (GRCm39) L485P probably damaging Het
Nav1 A G 1: 135,378,534 (GRCm39) Y1646H probably damaging Het
Nsf A T 11: 103,752,730 (GRCm39) V539D probably damaging Het
Nutm1 A T 2: 112,079,247 (GRCm39) N889K possibly damaging Het
Or2n1b C T 17: 38,459,611 (GRCm39) A44V probably benign Het
Or55b3 A G 7: 102,126,738 (GRCm39) L113P probably damaging Het
Pcdhga2 T A 18: 37,803,815 (GRCm39) V553E probably benign Het
Pkmyt1 T C 17: 23,951,730 (GRCm39) S95P possibly damaging Het
Ranbp2 T A 10: 58,319,708 (GRCm39) probably null Het
Saxo2 T A 7: 82,284,073 (GRCm39) I262F probably damaging Het
Sco1 C T 11: 66,946,571 (GRCm39) R115W probably damaging Het
Slc27a3 G T 3: 90,294,961 (GRCm39) Y330* probably null Het
Slc6a4 C T 11: 76,909,080 (GRCm39) T364I probably damaging Het
Slit2 A G 5: 48,377,023 (GRCm39) I388V probably benign Het
Smc6 C A 12: 11,347,107 (GRCm39) probably benign Het
Snx25 C T 8: 46,488,675 (GRCm39) W747* probably null Het
Stard9 T A 2: 120,534,801 (GRCm39) M3686K probably benign Het
Syne1 T C 10: 4,972,212 (GRCm39) D8732G probably benign Het
Tcaf3 A G 6: 42,574,105 (GRCm39) S36P possibly damaging Het
Trpv6 T C 6: 41,602,356 (GRCm39) probably null Het
Tspear T C 10: 77,710,847 (GRCm39) F490L possibly damaging Het
Ttn A G 2: 76,552,196 (GRCm39) I31147T probably damaging Het
Ugt3a1 A C 15: 9,306,317 (GRCm39) E155D probably damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Washc2 G T 6: 116,235,719 (GRCm39) Q977H probably benign Het
Yars2 T A 16: 16,120,899 (GRCm39) W18R probably benign Het
Other mutations in Kcnj9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02094:Kcnj9 APN 1 172,153,275 (GRCm39) missense probably damaging 1.00
IGL02616:Kcnj9 APN 1 172,153,531 (GRCm39) missense probably damaging 1.00
R0131:Kcnj9 UTSW 1 172,153,765 (GRCm39) missense probably damaging 0.99
R0131:Kcnj9 UTSW 1 172,153,765 (GRCm39) missense probably damaging 0.99
R0132:Kcnj9 UTSW 1 172,153,765 (GRCm39) missense probably damaging 0.99
R0505:Kcnj9 UTSW 1 172,150,591 (GRCm39) missense probably benign 0.01
R0591:Kcnj9 UTSW 1 172,150,665 (GRCm39) missense probably damaging 0.98
R0726:Kcnj9 UTSW 1 172,153,488 (GRCm39) missense probably damaging 1.00
R1178:Kcnj9 UTSW 1 172,150,530 (GRCm39) missense probably benign 0.00
R1485:Kcnj9 UTSW 1 172,153,929 (GRCm39) missense probably benign 0.24
R1989:Kcnj9 UTSW 1 172,153,716 (GRCm39) missense probably benign 0.05
R5165:Kcnj9 UTSW 1 172,150,724 (GRCm39) missense probably benign 0.00
R6245:Kcnj9 UTSW 1 172,153,704 (GRCm39) missense probably damaging 1.00
R6903:Kcnj9 UTSW 1 172,153,623 (GRCm39) missense probably damaging 1.00
R7309:Kcnj9 UTSW 1 172,153,825 (GRCm39) missense probably damaging 1.00
R8043:Kcnj9 UTSW 1 172,153,623 (GRCm39) missense probably damaging 1.00
R8251:Kcnj9 UTSW 1 172,154,089 (GRCm39) missense probably benign
R8682:Kcnj9 UTSW 1 172,153,680 (GRCm39) missense possibly damaging 0.79
R8896:Kcnj9 UTSW 1 172,153,360 (GRCm39) missense probably damaging 1.00
R9380:Kcnj9 UTSW 1 172,153,447 (GRCm39) missense probably benign 0.32
R9775:Kcnj9 UTSW 1 172,153,741 (GRCm39) missense probably damaging 1.00
Z1177:Kcnj9 UTSW 1 172,150,750 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TCTGGTGCAAAGGGATGAACTC -3'
(R):5'- TACCTGACCGACCTGTTCAC -3'

Sequencing Primer
(F):5'- AAAGGGATGAACTCGCCCTCG -3'
(R):5'- ACCTGTTCACCACGCTGG -3'
Posted On 2018-04-27