Incidental Mutation 'R7626:Kcnj3'
ID |
589428 |
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 |
045690-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7626 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 55484833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 310
(C310*)
|
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 null
Transcript: ENSMUST00000067101
AA Change: C310*
|
SMART Domains |
Protein: ENSMUSP00000063329 Gene: ENSMUSG00000026824 AA Change: C310*
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 null
Transcript: ENSMUST00000112633
AA Change: C310*
|
SMART Domains |
Protein: ENSMUSP00000108252 Gene: ENSMUSG00000026824 AA Change: C310*
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
Pfam:IRK
|
47 |
369 |
1.1e-141 |
PFAM |
|
Meta Mutation Damage Score |
0.9717 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (56/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,390,756 (GRCm39) |
D465G |
possibly damaging |
Het |
Arhgef16 |
T |
A |
4: 154,367,339 (GRCm39) |
K355N |
possibly damaging |
Het |
Camkk2 |
T |
A |
5: 122,902,363 (GRCm39) |
|
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,499,012 (GRCm39) |
Q237* |
probably null |
Het |
Ces2b |
T |
C |
8: 105,564,017 (GRCm39) |
Y464H |
possibly damaging |
Het |
Cntfr |
A |
G |
4: 41,662,013 (GRCm39) |
F243S |
possibly damaging |
Het |
Crip3 |
A |
T |
17: 46,740,791 (GRCm39) |
R65S |
probably benign |
Het |
Dcn |
A |
G |
10: 97,319,340 (GRCm39) |
Y39C |
possibly damaging |
Het |
Degs2 |
T |
C |
12: 108,658,332 (GRCm39) |
S216G |
possibly damaging |
Het |
Dmxl1 |
A |
G |
18: 50,035,861 (GRCm39) |
I2295V |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,389,511 (GRCm39) |
S794P |
probably damaging |
Het |
Eri1 |
A |
C |
8: 35,941,554 (GRCm39) |
Y264* |
probably null |
Het |
Etl4 |
T |
C |
2: 20,718,189 (GRCm39) |
L179P |
probably damaging |
Het |
F5 |
T |
G |
1: 164,014,481 (GRCm39) |
M584R |
possibly damaging |
Het |
Fam98c |
G |
T |
7: 28,852,248 (GRCm39) |
R104S |
probably damaging |
Het |
Flad1 |
A |
T |
3: 89,310,718 (GRCm39) |
I443N |
probably benign |
Het |
Hbp1 |
T |
C |
12: 31,993,899 (GRCm39) |
E43G |
probably benign |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,518,882 (GRCm39) |
V1896A |
possibly damaging |
Het |
Lrfn4 |
C |
A |
19: 4,663,679 (GRCm39) |
R285L |
probably damaging |
Het |
Ltb4r2 |
T |
A |
14: 56,000,338 (GRCm39) |
S320T |
probably damaging |
Het |
Mmd |
G |
T |
11: 90,148,378 (GRCm39) |
R20L |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,608,661 (GRCm39) |
S2146P |
probably benign |
Het |
Nop14 |
A |
G |
5: 34,809,135 (GRCm39) |
F319L |
probably damaging |
Het |
Numa1 |
C |
A |
7: 101,648,630 (GRCm39) |
T787K |
probably benign |
Het |
Or10q12 |
T |
G |
19: 13,745,709 (GRCm39) |
M1R |
probably null |
Het |
Or2t46 |
A |
C |
11: 58,471,999 (GRCm39) |
T110P |
probably damaging |
Het |
Or6c208 |
T |
G |
10: 129,223,726 (GRCm39) |
C75G |
possibly damaging |
Het |
Patj |
T |
C |
4: 98,435,224 (GRCm39) |
V2A |
probably benign |
Het |
Pisd |
T |
C |
5: 32,898,032 (GRCm39) |
H52R |
probably benign |
Het |
Plekhg6 |
A |
T |
6: 125,340,631 (GRCm39) |
D576E |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,310,110 (GRCm39) |
H68L |
probably benign |
Het |
Ppp1r37 |
T |
A |
7: 19,295,778 (GRCm39) |
I60F |
probably damaging |
Het |
Ppp2r1b |
C |
T |
9: 50,789,476 (GRCm39) |
T513M |
possibly damaging |
Het |
Pramel32 |
A |
T |
4: 88,548,279 (GRCm39) |
I42N |
probably damaging |
Het |
Rhobtb2 |
C |
A |
14: 70,034,386 (GRCm39) |
A280S |
probably damaging |
Het |
Rnf40 |
A |
G |
7: 127,189,047 (GRCm39) |
D140G |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,555,397 (GRCm39) |
L653P |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,074,995 (GRCm39) |
D500E |
probably benign |
Het |
Slc15a1 |
A |
T |
14: 121,713,377 (GRCm39) |
D383E |
probably benign |
Het |
Smarcad1 |
C |
A |
6: 65,073,033 (GRCm39) |
S604R |
possibly damaging |
Het |
St7 |
A |
G |
6: 17,934,216 (GRCm39) |
T533A |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,122,451 (GRCm39) |
T442S |
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,731,622 (GRCm39) |
T640A |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,542,221 (GRCm39) |
N1948K |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,551,268 (GRCm39) |
|
probably null |
Het |
Tmem135 |
A |
T |
7: 88,805,718 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
T |
15: 76,518,136 (GRCm39) |
L582Q |
probably null |
Het |
Unc13c |
T |
A |
9: 73,641,799 (GRCm39) |
K1231N |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,832,192 (GRCm39) |
Y729* |
probably null |
Het |
Zcchc2 |
A |
G |
1: 105,928,742 (GRCm39) |
T334A |
possibly damaging |
Het |
Zfp655 |
T |
C |
5: 145,173,917 (GRCm39) |
L136P |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,768,437 (GRCm39) |
C597* |
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 |
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 |
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'- CCGGTTTCCTCGTATAGACAAG -3'
(R):5'- TGAGAAGCATTTCCTCCTGC -3'
Sequencing Primer
(F):5'- GGAGCATTTCCAGCACCTTGTG -3'
(R):5'- CTGCTCTTTCACGCTGTAAGGAG -3'
|
Posted On |
2019-10-24 |