Incidental Mutation 'IGL00673:Kcnj3'
ID |
11562 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kcnj3
|
Ensembl Gene |
ENSMUSG00000026824 |
Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 3 |
Synonyms |
GIRK1, Kcnf3, Kir3.1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00673
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 55485284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 461
(D461Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067101]
[ENSMUST00000112632]
[ENSMUST00000112633]
|
AlphaFold |
P63250 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067101
AA Change: D461Y
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000063329 Gene: ENSMUSG00000026824 AA Change: D461Y
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
Pfam:IRK
|
47 |
385 |
3.6e-164 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112632
|
SMART Domains |
Protein: ENSMUSP00000108251 Gene: ENSMUSG00000026824
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
Pfam:IRK
|
47 |
235 |
4e-99 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112633
AA Change: D461Y
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108252 Gene: ENSMUSG00000026824 AA Change: D461Y
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
Pfam:IRK
|
47 |
369 |
1.1e-141 |
PFAM |
|
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 and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012] PHENOTYPE: Mice homozygous for a targeted null mutation display slightly increased resting heart rates, and blunted responses to both indirect vagal activation and direct adenosine A1 receptor activation (intended to activate the muscarinic-gated atrial potassium channel). [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
T |
C |
9: 90,075,714 (GRCm39) |
S1191P |
possibly damaging |
Het |
Alg2 |
C |
T |
4: 47,472,329 (GRCm39) |
D160N |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,442 (GRCm39) |
F487Y |
possibly damaging |
Het |
Cdc27 |
A |
G |
11: 104,419,261 (GRCm39) |
Y224H |
probably damaging |
Het |
Cdhr1 |
A |
G |
14: 36,807,485 (GRCm39) |
V385A |
probably benign |
Het |
Cep128 |
G |
T |
12: 91,200,965 (GRCm39) |
H31Q |
probably benign |
Het |
Ehd4 |
A |
G |
2: 119,932,701 (GRCm39) |
S242P |
probably damaging |
Het |
Esco1 |
A |
G |
18: 10,582,078 (GRCm39) |
F647L |
probably damaging |
Het |
Itgbl1 |
C |
T |
14: 124,083,844 (GRCm39) |
|
probably benign |
Het |
Kcnq3 |
G |
A |
15: 65,867,120 (GRCm39) |
T841M |
probably damaging |
Het |
Kcnt2 |
T |
G |
1: 140,523,789 (GRCm39) |
N1103K |
possibly damaging |
Het |
Mib1 |
A |
G |
18: 10,798,490 (GRCm39) |
S784G |
probably benign |
Het |
Miga2 |
T |
G |
2: 30,257,729 (GRCm39) |
M9R |
probably benign |
Het |
Pals1 |
C |
A |
12: 78,876,573 (GRCm39) |
R506S |
possibly damaging |
Het |
Prl2a1 |
T |
C |
13: 27,992,436 (GRCm39) |
S187P |
probably damaging |
Het |
Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
Ptdss2 |
G |
T |
7: 140,723,038 (GRCm39) |
C84F |
probably benign |
Het |
Recql |
T |
A |
6: 142,322,647 (GRCm39) |
N85I |
probably null |
Het |
Tex47 |
A |
T |
5: 7,355,211 (GRCm39) |
I131F |
probably damaging |
Het |
Tlk1 |
G |
T |
2: 70,575,860 (GRCm39) |
Q323K |
probably damaging |
Het |
|
Other mutations in Kcnj3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01889:Kcnj3
|
APN |
2 |
55,327,216 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01988:Kcnj3
|
APN |
2 |
55,327,243 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01989:Kcnj3
|
APN |
2 |
55,327,243 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02004:Kcnj3
|
APN |
2 |
55,327,243 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02035:Kcnj3
|
APN |
2 |
55,327,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R0268:Kcnj3
|
UTSW |
2 |
55,484,971 (GRCm39) |
nonsense |
probably null |
|
R0565:Kcnj3
|
UTSW |
2 |
55,485,276 (GRCm39) |
missense |
probably benign |
0.03 |
R0853:Kcnj3
|
UTSW |
2 |
55,327,235 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1318:Kcnj3
|
UTSW |
2 |
55,327,750 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1592:Kcnj3
|
UTSW |
2 |
55,327,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Kcnj3
|
UTSW |
2 |
55,327,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Kcnj3
|
UTSW |
2 |
55,327,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Kcnj3
|
UTSW |
2 |
55,327,343 (GRCm39) |
missense |
probably damaging |
0.99 |
R2891:Kcnj3
|
UTSW |
2 |
55,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R2892:Kcnj3
|
UTSW |
2 |
55,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R2893:Kcnj3
|
UTSW |
2 |
55,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R3901:Kcnj3
|
UTSW |
2 |
55,327,360 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4470:Kcnj3
|
UTSW |
2 |
55,327,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4603:Kcnj3
|
UTSW |
2 |
55,336,991 (GRCm39) |
nonsense |
probably null |
|
R4694:Kcnj3
|
UTSW |
2 |
55,484,918 (GRCm39) |
missense |
probably benign |
0.00 |
R4945:Kcnj3
|
UTSW |
2 |
55,327,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R5144:Kcnj3
|
UTSW |
2 |
55,337,059 (GRCm39) |
splice site |
probably null |
|
R5332:Kcnj3
|
UTSW |
2 |
55,327,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R5959:Kcnj3
|
UTSW |
2 |
55,327,330 (GRCm39) |
missense |
probably benign |
0.10 |
R6352:Kcnj3
|
UTSW |
2 |
55,327,561 (GRCm39) |
missense |
probably benign |
0.06 |
R7042:Kcnj3
|
UTSW |
2 |
55,484,877 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7475:Kcnj3
|
UTSW |
2 |
55,327,338 (GRCm39) |
missense |
probably benign |
0.09 |
R7626:Kcnj3
|
UTSW |
2 |
55,484,833 (GRCm39) |
nonsense |
probably null |
|
R7771:Kcnj3
|
UTSW |
2 |
55,336,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R8225:Kcnj3
|
UTSW |
2 |
55,327,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R8558:Kcnj3
|
UTSW |
2 |
55,336,875 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8986:Kcnj3
|
UTSW |
2 |
55,485,039 (GRCm39) |
missense |
probably benign |
|
R9653:Kcnj3
|
UTSW |
2 |
55,484,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |