Incidental Mutation 'R8986:Kcnj3'
ID |
684008 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8986 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 55485039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 379
(S379I)
|
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 benign
Transcript: ENSMUST00000067101
AA Change: S379I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000063329 Gene: ENSMUSG00000026824 AA Change: S379I
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 benign
Transcript: ENSMUST00000112633
AA Change: S379I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108252 Gene: ENSMUSG00000026824 AA Change: S379I
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (57/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Adamts10 |
C |
T |
17: 33,762,668 (GRCm39) |
A549V |
probably benign |
Het |
Akap13 |
T |
C |
7: 75,259,074 (GRCm39) |
M566T |
probably benign |
Het |
Alb |
A |
G |
5: 90,615,225 (GRCm39) |
T246A |
probably benign |
Het |
Cyfip1 |
C |
T |
7: 55,558,140 (GRCm39) |
R806C |
probably damaging |
Het |
Cyp11a1 |
T |
A |
9: 57,925,644 (GRCm39) |
I195N |
probably damaging |
Het |
Dclre1a |
C |
G |
19: 56,526,826 (GRCm39) |
Q863H |
|
Het |
Ddx19a |
A |
G |
8: 111,705,188 (GRCm39) |
V311A |
probably benign |
Het |
Dnajc13 |
A |
T |
9: 104,057,330 (GRCm39) |
F1557I |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,755,181 (GRCm39) |
T865S |
possibly damaging |
Het |
Esrrg |
T |
A |
1: 187,943,104 (GRCm39) |
I382K |
possibly damaging |
Het |
Fam149a |
G |
A |
8: 45,811,837 (GRCm39) |
T22M |
|
Het |
Fam227b |
A |
T |
2: 125,958,019 (GRCm39) |
Y249N |
probably damaging |
Het |
Fanci |
G |
A |
7: 79,095,472 (GRCm39) |
V1217I |
probably benign |
Het |
Fermt2 |
A |
G |
14: 45,742,023 (GRCm39) |
Y108H |
probably benign |
Het |
Gkn1 |
A |
T |
6: 87,325,160 (GRCm39) |
V83E |
probably damaging |
Het |
Glmp |
T |
A |
3: 88,233,002 (GRCm39) |
S47T |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,734,457 (GRCm39) |
H1511R |
probably damaging |
Het |
Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
Htra3 |
A |
T |
5: 35,836,372 (GRCm39) |
C107S |
probably damaging |
Het |
Ighv1-58 |
T |
C |
12: 115,275,835 (GRCm39) |
Q101R |
probably benign |
Het |
Ighv6-5 |
A |
T |
12: 114,380,382 (GRCm39) |
L45* |
probably null |
Het |
Igtp |
T |
A |
11: 58,096,947 (GRCm39) |
|
probably null |
Het |
Il1rap |
T |
C |
16: 26,533,696 (GRCm39) |
S531P |
probably damaging |
Het |
Kcnd3 |
A |
T |
3: 105,367,039 (GRCm39) |
H303L |
probably damaging |
Het |
Lrrc36 |
T |
C |
8: 106,176,093 (GRCm39) |
S156P |
possibly damaging |
Het |
Mical3 |
G |
T |
6: 120,991,822 (GRCm39) |
D250E |
|
Het |
Msh3 |
T |
C |
13: 92,483,334 (GRCm39) |
T270A |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,658,746 (GRCm39) |
W404R |
probably damaging |
Het |
Nol7 |
T |
C |
13: 43,554,985 (GRCm39) |
F206S |
probably damaging |
Het |
Obi1 |
T |
C |
14: 104,745,418 (GRCm39) |
H86R |
probably damaging |
Het |
Or12e13 |
A |
T |
2: 87,663,655 (GRCm39) |
I91F |
possibly damaging |
Het |
Or2ag1 |
A |
G |
7: 106,473,050 (GRCm39) |
I134T |
probably benign |
Het |
Paox |
A |
G |
7: 139,706,503 (GRCm39) |
E141G |
probably benign |
Het |
Plod1 |
A |
T |
4: 147,997,734 (GRCm39) |
H658Q |
probably damaging |
Het |
Pou4f1 |
T |
C |
14: 104,704,087 (GRCm39) |
D115G |
probably damaging |
Het |
Ppp1r26 |
G |
T |
2: 28,342,802 (GRCm39) |
E811* |
probably null |
Het |
Qsox1 |
C |
T |
1: 155,666,829 (GRCm39) |
R220K |
probably damaging |
Het |
Rabgap1l |
C |
T |
1: 160,085,105 (GRCm39) |
V781I |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,541,354 (GRCm39) |
D1294G |
possibly damaging |
Het |
Rbp7 |
C |
T |
4: 149,537,371 (GRCm39) |
V97I |
probably benign |
Het |
Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
Sdcbp2 |
T |
C |
2: 151,429,150 (GRCm39) |
V183A |
probably benign |
Het |
Slfn2 |
C |
G |
11: 82,960,427 (GRCm39) |
I135M |
possibly damaging |
Het |
Sntg1 |
T |
A |
1: 8,484,491 (GRCm39) |
D443V |
possibly damaging |
Het |
Tas2r105 |
G |
A |
6: 131,663,913 (GRCm39) |
Q172* |
probably null |
Het |
Tfdp2 |
A |
G |
9: 96,172,637 (GRCm39) |
R44G |
probably damaging |
Het |
Thbd |
A |
T |
2: 148,248,480 (GRCm39) |
C463S |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,897,646 (GRCm39) |
V807A |
possibly damaging |
Het |
Trim68 |
T |
A |
7: 102,327,808 (GRCm39) |
K382* |
probably null |
Het |
Vmn2r110 |
T |
A |
17: 20,803,823 (GRCm39) |
I251F |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,915,325 (GRCm39) |
R91* |
probably null |
Het |
Vmn2r-ps117 |
G |
A |
17: 19,044,943 (GRCm39) |
W453* |
probably null |
Het |
Zc3h18 |
T |
C |
8: 123,134,193 (GRCm39) |
V553A |
unknown |
Het |
Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
Zfp791 |
A |
G |
8: 85,837,327 (GRCm39) |
F179S |
probably benign |
Het |
Zyg11a |
A |
T |
4: 108,041,628 (GRCm39) |
|
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 |
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 |
R9653:Kcnj3
|
UTSW |
2 |
55,484,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGCAGGAATGACTTGTCAAGC -3'
(R):5'- TTGGAGTTTCATGGGCAAATCAC -3'
Sequencing Primer
(F):5'- GGAATGACTTGTCAAGCTCGAACATC -3'
(R):5'- CCCAAACTATAGGCTTTTTCTGAGG -3'
|
Posted On |
2021-10-11 |