Incidental Mutation 'IGL01889:Kcnj3'
ID |
179207 |
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 # |
IGL01889
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55327216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 2
(S2T)
|
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: S2T
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063329 Gene: ENSMUSG00000026824 AA Change: S2T
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
AA Change: S2T
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108251 Gene: ENSMUSG00000026824 AA Change: S2T
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: S2T
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000108252 Gene: ENSMUSG00000026824 AA Change: S2T
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
Pfam:IRK
|
47 |
369 |
1.1e-141 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180810
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
G |
A |
6: 92,804,981 (GRCm39) |
|
probably benign |
Het |
Brap |
G |
A |
5: 121,798,881 (GRCm39) |
V18I |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,048,857 (GRCm39) |
V2282M |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,935,967 (GRCm38) |
E2269G |
possibly damaging |
Het |
Gaa |
A |
G |
11: 119,169,123 (GRCm39) |
I557V |
probably benign |
Het |
Gapt |
T |
A |
13: 110,490,501 (GRCm39) |
Q54L |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,651,852 (GRCm39) |
I253N |
possibly damaging |
Het |
Mindy2 |
T |
C |
9: 70,538,444 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,225,427 (GRCm39) |
V1048A |
possibly damaging |
Het |
Nlrp4d |
A |
T |
7: 10,112,261 (GRCm39) |
V636D |
unknown |
Het |
Nphs1 |
G |
T |
7: 30,159,936 (GRCm39) |
R82S |
probably damaging |
Het |
Or10a3m |
T |
A |
7: 108,313,089 (GRCm39) |
F164L |
probably benign |
Het |
Or4x6 |
A |
G |
2: 89,949,309 (GRCm39) |
V211A |
possibly damaging |
Het |
Or6z3 |
G |
A |
7: 6,463,502 (GRCm39) |
|
probably benign |
Het |
Papln |
T |
A |
12: 83,833,609 (GRCm39) |
L1175Q |
probably benign |
Het |
Rab22a |
T |
C |
2: 173,530,031 (GRCm39) |
|
probably benign |
Het |
Rel |
A |
G |
11: 23,707,035 (GRCm39) |
Y56H |
probably damaging |
Het |
Sdc4 |
A |
G |
2: 164,273,127 (GRCm39) |
L61P |
probably damaging |
Het |
Slc1a4 |
A |
G |
11: 20,264,089 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,189,783 (GRCm39) |
C3989* |
probably null |
Het |
Zfyve16 |
A |
G |
13: 92,659,077 (GRCm39) |
V278A |
possibly damaging |
Het |
|
Other mutations in Kcnj3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Kcnj3
|
APN |
2 |
55,485,284 (GRCm39) |
missense |
possibly damaging |
0.88 |
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 |
2014-05-07 |