Incidental Mutation 'R2892:Kcnj3'
ID |
260112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnj3
|
Ensembl Gene |
ENSMUSG00000026824 |
Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 3 |
Synonyms |
GIRK1, Kcnf3, Kir3.1 |
MMRRC Submission |
040480-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2892 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55337027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 298
(I298F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067101]
[ENSMUST00000112632]
[ENSMUST00000112633]
|
AlphaFold |
P63250 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067101
AA Change: I298F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063329 Gene: ENSMUSG00000026824 AA Change: I298F
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 |
probably damaging
Transcript: ENSMUST00000112633
AA Change: I298F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108252 Gene: ENSMUSG00000026824 AA Change: I298F
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,751,661 (GRCm39) |
D232G |
probably damaging |
Het |
Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
Atp6v0a4 |
T |
C |
6: 38,029,952 (GRCm39) |
E704G |
probably benign |
Het |
Bbx |
A |
G |
16: 50,045,104 (GRCm39) |
Y378H |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,735,770 (GRCm39) |
V574A |
probably damaging |
Het |
Cpz |
A |
G |
5: 35,668,473 (GRCm39) |
V379A |
probably damaging |
Het |
Cyp4f15 |
A |
G |
17: 32,905,182 (GRCm39) |
D55G |
probably benign |
Het |
Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
Defa30 |
A |
T |
8: 21,624,679 (GRCm39) |
M1L |
probably damaging |
Het |
Fzd8 |
G |
T |
18: 9,214,514 (GRCm39) |
G532V |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,933,894 (GRCm39) |
F717S |
possibly damaging |
Het |
Gckr |
T |
C |
5: 31,483,816 (GRCm39) |
V563A |
probably benign |
Het |
Ighv1-24 |
T |
G |
12: 114,736,679 (GRCm39) |
K74Q |
probably benign |
Het |
Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
Mmrn2 |
T |
G |
14: 34,118,587 (GRCm39) |
F158V |
probably benign |
Het |
Mug1 |
G |
A |
6: 121,817,029 (GRCm39) |
V33M |
possibly damaging |
Het |
Myom1 |
T |
C |
17: 71,341,648 (GRCm39) |
S136P |
probably damaging |
Het |
Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
Or6c217 |
A |
G |
10: 129,737,809 (GRCm39) |
Y257H |
possibly damaging |
Het |
Or7g27 |
A |
G |
9: 19,250,034 (GRCm39) |
T93A |
probably benign |
Het |
Pcnx2 |
A |
G |
8: 126,617,797 (GRCm39) |
S153P |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,170,767 (GRCm39) |
D633G |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
Plrg1 |
C |
A |
3: 82,978,547 (GRCm39) |
Q438K |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,493,972 (GRCm39) |
Y215H |
probably damaging |
Het |
Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
Snrnp200 |
T |
C |
2: 127,073,697 (GRCm39) |
L1365P |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
Trim80 |
A |
G |
11: 115,338,849 (GRCm39) |
T560A |
possibly damaging |
Het |
Ttll2 |
T |
C |
17: 7,620,098 (GRCm39) |
|
probably null |
Het |
Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
Zfp82 |
G |
A |
7: 29,755,864 (GRCm39) |
T406I |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTGAGGGTGAGTTCCTTC -3'
(R):5'- GAACTCAGGCTGATCACAAAATGC -3'
Sequencing Primer
(F):5'- CCCCTTGACCAACTTGAACTGG -3'
(R):5'- GGCTGATCACAAAATGCCCTAATG -3'
|
Posted On |
2015-01-23 |