Incidental Mutation 'IGL02616:Kcnj9'
ID 300664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj9
Ensembl Gene ENSMUSG00000038026
Gene Name potassium inwardly-rectifying channel, subfamily J, member 9
Synonyms 1700085N21Rik, Kir3.3, Girk3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02616
Quality Score
Status
Chromosome 1
Chromosomal Location 172148075-172156889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172153531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 198 (S198P)
Ref Sequence ENSEMBL: ENSMUSP00000141633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062387] [ENSMUST00000194204]
AlphaFold P48543
Predicted Effect probably damaging
Transcript: ENSMUST00000062387
AA Change: S198P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060110
Gene: ENSMUSG00000038026
AA Change: S198P

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 damaging
Transcript: ENSMUST00000194204
AA Change: S198P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141633
Gene: ENSMUSG00000038026
AA Change: S198P

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
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,644 (GRCm39) R190G probably benign Het
4931406B18Rik T C 7: 43,150,437 (GRCm39) probably null Het
Adcy4 T C 14: 56,020,971 (GRCm39) probably null Het
Ahnak C A 19: 8,982,991 (GRCm39) P1425Q probably benign Het
Arih1 A G 9: 59,319,759 (GRCm39) V285A probably benign Het
Atp13a1 T C 8: 70,257,963 (GRCm39) V906A probably benign Het
Atp2a2 A T 5: 122,599,747 (GRCm39) I548N probably benign Het
C2cd5 A T 6: 142,980,837 (GRCm39) S643T probably benign Het
Calcoco1 T C 15: 102,624,285 (GRCm39) D210G probably damaging Het
Cep128 A G 12: 91,263,032 (GRCm39) I289T probably benign Het
Ces1c C T 8: 93,833,243 (GRCm39) M407I probably benign Het
Cntln T G 4: 85,033,689 (GRCm39) probably null Het
Cypt12 T A 3: 18,002,892 (GRCm39) H88Q possibly damaging Het
Ddc T A 11: 11,830,645 (GRCm39) probably benign Het
Dnajb12 T C 10: 59,728,685 (GRCm39) probably null Het
Gata2 A G 6: 88,182,462 (GRCm39) T477A possibly damaging Het
Gckr A G 5: 31,484,419 (GRCm39) D619G probably benign Het
Gm5699 A T 1: 31,037,432 (GRCm39) noncoding transcript Het
Gm8257 T A 14: 44,892,683 (GRCm39) S106C probably damaging Het
Gpr15 A C 16: 58,538,567 (GRCm39) L174R probably damaging Het
Hnrnph3 T A 10: 62,855,264 (GRCm39) H7L possibly damaging Het
Ide A T 19: 37,275,455 (GRCm39) I518N unknown Het
Igdcc4 G A 9: 65,040,360 (GRCm39) G957D probably damaging Het
Igsf10 G A 3: 59,226,027 (GRCm39) P2549S probably benign Het
Lclat1 T C 17: 73,476,528 (GRCm39) I45T probably benign Het
Met T C 6: 17,553,346 (GRCm39) L1044S probably damaging Het
Msh4 T C 3: 153,563,160 (GRCm39) T739A probably benign Het
Ncam1 T C 9: 49,419,988 (GRCm39) E776G probably benign Het
Ndufv3 G A 17: 31,746,643 (GRCm39) V178M probably damaging Het
Nlgn1 T C 3: 25,488,409 (GRCm39) Y613C probably damaging Het
Nmbr T C 10: 14,636,431 (GRCm39) probably benign Het
Orc1 T A 4: 108,452,676 (GRCm39) W184R probably benign Het
Pde6b T C 5: 108,579,407 (GRCm39) S850P probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pnpt1 T C 11: 29,085,505 (GRCm39) probably benign Het
Pomt2 T A 12: 87,171,636 (GRCm39) H378L probably damaging Het
Sh3gl3 C T 7: 81,934,226 (GRCm39) probably benign Het
Thsd7a A T 6: 12,408,984 (GRCm39) N679K probably damaging Het
Tns2 T C 15: 102,019,850 (GRCm39) M572T probably benign Het
Twf2 C T 9: 106,089,955 (GRCm39) Q103* probably null Het
Uncx T C 5: 139,532,523 (GRCm39) I196T possibly damaging Het
Urgcp A G 11: 5,667,400 (GRCm39) S313P probably damaging Het
Vmn1r222 A T 13: 23,416,311 (GRCm39) C301S possibly damaging Het
Vmn2r111 T A 17: 22,790,031 (GRCm39) Q325L possibly damaging Het
Vps4a C T 8: 107,768,909 (GRCm39) R236W probably damaging Het
Wdr19 T A 5: 65,380,924 (GRCm39) H344Q probably damaging Het
Wiz A T 17: 32,578,443 (GRCm39) D356E probably damaging Het
Zc3h10 T C 10: 128,380,751 (GRCm39) E202G probably benign Het
Other mutations in Kcnj9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02094:Kcnj9 APN 1 172,153,275 (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
R6344:Kcnj9 UTSW 1 172,153,713 (GRCm39) missense probably benign 0.01
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
Posted On 2015-04-16