Incidental Mutation 'IGL01988:Kcnj3'
| ID |
279248 |
| 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 # |
IGL01988
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55327243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 11
(D11N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067101]
[ENSMUST00000112632]
[ENSMUST00000112633]
|
| AlphaFold |
P63250 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067101
AA Change: D11N
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: D11N
| 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: D11N
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824
AA Change: D11N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
47 |
235 |
4e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112633
AA Change: D11N
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: D11N
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,107 (GRCm39) |
S493R |
probably benign |
Het |
| Abca17 |
T |
C |
17: 24,553,229 (GRCm39) |
N161D |
probably damaging |
Het |
| Ace2 |
C |
A |
X: 162,946,988 (GRCm39) |
N290K |
possibly damaging |
Het |
| Adam26a |
G |
A |
8: 44,022,207 (GRCm39) |
P428S |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,705,428 (GRCm39) |
R1461G |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,305,672 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,792,006 (GRCm39) |
V334A |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,683,891 (GRCm39) |
Y408C |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,229,922 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,945,831 (GRCm39) |
N931K |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,799,858 (GRCm39) |
M272T |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,298,299 (GRCm39) |
N283S |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,069,944 (GRCm39) |
S386R |
probably benign |
Het |
| Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,910,197 (GRCm39) |
|
probably benign |
Het |
| Fyn |
T |
A |
10: 39,409,917 (GRCm39) |
L408* |
probably null |
Het |
| Gkn2 |
T |
C |
6: 87,356,257 (GRCm39) |
V176A |
probably benign |
Het |
| Gm10764 |
G |
A |
10: 87,126,953 (GRCm39) |
C120Y |
unknown |
Het |
| Gpr19 |
A |
T |
6: 134,846,247 (GRCm39) |
F442I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,395,357 (GRCm39) |
|
probably benign |
Het |
| Il7 |
A |
G |
3: 7,669,126 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Kif1c |
A |
G |
11: 70,595,762 (GRCm39) |
D156G |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,032,813 (GRCm39) |
|
probably benign |
Het |
| Nedd1 |
G |
T |
10: 92,550,021 (GRCm39) |
T88K |
probably benign |
Het |
| Nlrc3 |
T |
G |
16: 3,771,803 (GRCm39) |
S875R |
probably benign |
Het |
| Optc |
A |
G |
1: 133,834,667 (GRCm39) |
|
probably null |
Het |
| Or4a78 |
T |
A |
2: 89,497,424 (GRCm39) |
I269F |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Pde1b |
A |
G |
15: 103,433,283 (GRCm39) |
|
probably null |
Het |
| Phf11a |
A |
T |
14: 59,514,807 (GRCm39) |
D291E |
probably damaging |
Het |
| Slc30a8 |
A |
T |
15: 52,198,601 (GRCm39) |
I349L |
probably benign |
Het |
| Spty2d1 |
T |
A |
7: 46,647,358 (GRCm39) |
S524C |
probably damaging |
Het |
| Syndig1 |
T |
C |
2: 149,845,090 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,918,078 (GRCm39) |
L1894P |
probably damaging |
Het |
| Tmem176a |
T |
A |
6: 48,819,554 (GRCm39) |
V11E |
possibly damaging |
Het |
| Tpr |
G |
T |
1: 150,302,750 (GRCm39) |
|
probably null |
Het |
| Txnrd2 |
T |
C |
16: 18,274,768 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
G |
A |
7: 103,792,089 (GRCm39) |
|
probably benign |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,650 (GRCm39) |
T82I |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,798,437 (GRCm39) |
E1990K |
possibly damaging |
Het |
| Zdhhc7 |
T |
C |
8: 120,809,329 (GRCm39) |
R293G |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,759,037 (GRCm39) |
L148* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation