Incidental Mutation 'R8225:Kcnj3'
ID |
636916 |
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 |
067642-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8225 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 55327726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 172
(V172M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067101]
[ENSMUST00000112632]
[ENSMUST00000112633]
|
AlphaFold |
P63250 |
PDB Structure |
Crystal Structure of the Cytoplasmic Domain of G-protein Activated Inward Rectifier Potassium Channel 1 [X-RAY DIFFRACTION]
Crystal Structure of Cytoplasmic Domains of GIRK1 channel [X-RAY DIFFRACTION]
Crystal structure of a Kir3.1-prokaryotic Kir channel chimera [X-RAY DIFFRACTION]
Crystal structure of the S225E mutant Kir3.1 cytoplasmic pore domain [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067101
AA Change: V172M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063329 Gene: ENSMUSG00000026824 AA Change: V172M
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 damaging
Transcript: ENSMUST00000112632
AA Change: V172M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108251 Gene: ENSMUSG00000026824 AA Change: V172M
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: V172M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108252 Gene: ENSMUSG00000026824 AA Change: V172M
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: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,865,597 (GRCm39) |
N82S |
probably benign |
Het |
Ago3 |
A |
T |
4: 126,247,532 (GRCm39) |
L595Q |
probably damaging |
Het |
Bpifc |
T |
C |
10: 85,836,431 (GRCm39) |
T25A |
probably benign |
Het |
Bsn |
T |
A |
9: 107,984,305 (GRCm39) |
T478S |
|
Het |
Cacna1d |
A |
G |
14: 29,844,990 (GRCm39) |
V720A |
probably benign |
Het |
Cd109 |
G |
T |
9: 78,568,972 (GRCm39) |
K350N |
probably damaging |
Het |
Cdk6 |
C |
A |
5: 3,440,790 (GRCm39) |
P115T |
probably benign |
Het |
Clock |
T |
C |
5: 76,389,759 (GRCm39) |
N363S |
probably damaging |
Het |
Defa42 |
T |
C |
8: 21,946,418 (GRCm39) |
D39G |
possibly damaging |
Het |
Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
Dock10 |
T |
A |
1: 80,481,447 (GRCm39) |
K517* |
probably null |
Het |
Dynlt1a |
G |
T |
17: 6,361,628 (GRCm39) |
Q71K |
probably damaging |
Het |
Epb41l3 |
C |
T |
17: 69,581,796 (GRCm39) |
T591I |
possibly damaging |
Het |
Exosc10 |
G |
A |
4: 148,649,661 (GRCm39) |
V364I |
possibly damaging |
Het |
Fabp3-ps1 |
A |
G |
10: 86,568,098 (GRCm39) |
I52T |
noncoding transcript |
Het |
Fndc3a |
T |
C |
14: 72,795,117 (GRCm39) |
Q766R |
probably benign |
Het |
Gm10608 |
CACACACACAGA |
CA |
9: 118,989,776 (GRCm39) |
|
probably null |
Het |
Gm10645 |
C |
T |
8: 83,892,467 (GRCm39) |
R80H |
unknown |
Het |
Gpr146 |
A |
T |
5: 139,378,371 (GRCm39) |
M58L |
probably benign |
Het |
Gzf1 |
T |
A |
2: 148,532,764 (GRCm39) |
F639L |
probably benign |
Het |
Kars1 |
T |
C |
8: 112,729,970 (GRCm39) |
I136V |
probably benign |
Het |
Kcnk10 |
A |
G |
12: 98,406,849 (GRCm39) |
|
probably null |
Het |
Nagpa |
C |
A |
16: 5,016,724 (GRCm39) |
D334Y |
probably damaging |
Het |
Nsun2 |
T |
C |
13: 69,760,493 (GRCm39) |
I57T |
possibly damaging |
Het |
Or5b107 |
A |
T |
19: 13,142,507 (GRCm39) |
N43I |
probably damaging |
Het |
Pax8 |
A |
T |
2: 24,312,983 (GRCm39) |
L432Q |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,139,038 (GRCm39) |
L1710P |
probably damaging |
Het |
Prdm16 |
A |
G |
4: 154,439,702 (GRCm39) |
|
probably null |
Het |
Qrich2 |
A |
G |
11: 116,344,894 (GRCm39) |
L1721P |
probably damaging |
Het |
Sbsn |
TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG |
TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG |
7: 30,451,419 (GRCm39) |
|
probably benign |
Het |
Sbsn |
T |
C |
7: 30,451,869 (GRCm39) |
F295L |
probably benign |
Het |
Slc4a7 |
C |
T |
14: 14,738,224 (GRCm38) |
R153* |
probably null |
Het |
Sult6b2 |
A |
T |
6: 142,750,055 (GRCm39) |
M21K |
probably benign |
Het |
Swt1 |
A |
C |
1: 151,297,859 (GRCm39) |
S23A |
possibly damaging |
Het |
Synm |
A |
C |
7: 67,408,797 (GRCm39) |
S194A |
probably benign |
Het |
Sytl2 |
G |
A |
7: 90,024,725 (GRCm39) |
A238T |
probably benign |
Het |
Tax1bp1 |
G |
A |
6: 52,721,340 (GRCm39) |
|
probably null |
Het |
Tfr2 |
G |
A |
5: 137,569,725 (GRCm39) |
A74T |
possibly damaging |
Het |
Tns1 |
G |
A |
1: 74,025,046 (GRCm39) |
T389I |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,783,807 (GRCm39) |
R222Q |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,954,758 (GRCm39) |
C1094R |
probably benign |
Het |
Ube2q2l |
A |
T |
6: 136,378,110 (GRCm39) |
L240Q |
probably damaging |
Het |
Uty |
T |
C |
Y: 1,158,634 (GRCm39) |
S471G |
probably benign |
Het |
Vipr1 |
A |
T |
9: 121,471,915 (GRCm39) |
M1L |
possibly damaging |
Het |
Vps13b |
A |
G |
15: 35,794,528 (GRCm39) |
R2313G |
probably damaging |
Het |
Xrn1 |
T |
A |
9: 95,917,720 (GRCm39) |
C1301S |
probably benign |
Het |
Ythdc1 |
A |
T |
5: 86,964,796 (GRCm39) |
S164C |
possibly damaging |
Het |
Ythdc1 |
G |
T |
5: 86,964,797 (GRCm39) |
S164I |
possibly damaging |
Het |
Zbtb9 |
T |
A |
17: 27,193,759 (GRCm39) |
I388N |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 13,978,359 (GRCm39) |
I685V |
probably benign |
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 |
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 |
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'- TGGGTGATCGCTTATACCCG -3'
(R):5'- GCACTTACTTTGAGCAGCTTGC -3'
Sequencing Primer
(F):5'- CCTGAACAAAGCCCATGTCGG -3'
(R):5'- CATGGAGATAACCGCATG -3'
|
Posted On |
2020-07-13 |