Incidental Mutation 'R0853:Kcnj3'
| ID |
82604 |
| 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 |
039032-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0853 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55327235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 8
(F8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067101]
[ENSMUST00000112632]
[ENSMUST00000112633]
|
| AlphaFold |
P63250 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067101
AA Change: F8S
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: F8S
| 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: F8S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824
AA Change: F8S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
47 |
235 |
4e-99 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112633
AA Change: F8S
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: F8S
| 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
|
| Meta Mutation Damage Score |
0.0614 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.9%
|
| Validation Efficiency |
93% (42/45) |
| 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 |
|---|
| Amotl1 |
G |
T |
9: 14,504,074 (GRCm39) |
P378Q |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,780,847 (GRCm39) |
E365G |
probably damaging |
Het |
| Asb6 |
G |
A |
2: 30,717,042 (GRCm39) |
P61L |
possibly damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atxn7 |
C |
A |
14: 14,089,465 (GRCm38) |
|
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,522,664 (GRCm39) |
I290N |
probably damaging |
Het |
| Ccser2 |
A |
C |
14: 36,662,367 (GRCm39) |
S272R |
probably benign |
Het |
| Cfh |
T |
A |
1: 140,033,228 (GRCm39) |
H772L |
probably damaging |
Het |
| Cldn6 |
T |
G |
17: 23,900,438 (GRCm39) |
I134S |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,382,484 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
T |
C |
15: 84,932,726 (GRCm39) |
F156S |
possibly damaging |
Het |
| Fgd4 |
T |
A |
16: 16,292,251 (GRCm39) |
|
probably benign |
Het |
| Gckr |
G |
C |
5: 31,462,392 (GRCm39) |
A242P |
probably damaging |
Het |
| Gcnt4 |
A |
G |
13: 97,083,343 (GRCm39) |
D213G |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,779 (GRCm39) |
V237E |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,853,549 (GRCm39) |
L570P |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,107,495 (GRCm39) |
K827* |
probably null |
Het |
| Hyal6 |
T |
C |
6: 24,734,072 (GRCm39) |
F2L |
probably benign |
Het |
| Jak2 |
C |
A |
19: 29,262,326 (GRCm39) |
Y382* |
probably null |
Het |
| Kat8 |
C |
T |
7: 127,524,396 (GRCm39) |
H425Y |
probably benign |
Het |
| Klk1 |
T |
A |
7: 43,870,922 (GRCm39) |
|
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,095,977 (GRCm39) |
Y205C |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,078,237 (GRCm39) |
E26G |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,909,132 (GRCm39) |
S781P |
probably benign |
Het |
| Nqo2 |
A |
T |
13: 34,163,560 (GRCm39) |
H73L |
probably benign |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Pah |
G |
A |
10: 87,412,080 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
T |
G |
18: 37,442,938 (GRCm39) |
Y749* |
probably null |
Het |
| Pdgfrb |
C |
A |
18: 61,213,399 (GRCm39) |
N914K |
probably damaging |
Het |
| Ralyl |
A |
G |
3: 14,011,566 (GRCm39) |
Y4C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,559,503 (GRCm39) |
I1052N |
probably damaging |
Het |
| Sdk2 |
G |
A |
11: 113,712,241 (GRCm39) |
T1642I |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,926,942 (GRCm39) |
T207M |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,564,827 (GRCm39) |
L148P |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Tdp1 |
G |
A |
12: 99,901,326 (GRCm39) |
R536H |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,599 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,324 (GRCm39) |
T302K |
probably damaging |
Het |
| Zfp1002 |
A |
T |
2: 150,097,398 (GRCm39) |
S38R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGAAAGAAAGCCTCTGTCCC -3'
(R):5'- GTTACCATGCTGCACATTGCACC -3'
Sequencing Primer
(F):5'- GCAAAGACTGCTGCTACCTG -3'
(R):5'- TTCTTGTCCACGAACCGCT -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation