Incidental Mutation 'R1592:Kcnj3'
| ID |
175655 |
| 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 |
039629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1592 (G1)
|
| Quality Score |
160 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55327898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 229
(R229L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067101]
[ENSMUST00000112632]
[ENSMUST00000112633]
|
| AlphaFold |
P63250 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067101
AA Change: R229L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: R229L
| 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: R229L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824
AA Change: R229L
| 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: R229L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: R229L
| 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 |
0.9278 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (51/51) |
| 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 |
|---|
| Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
| Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
| Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
| Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
| Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
| Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
| Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
| Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
| Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
| Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
| Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
| Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
| Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
| Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
| Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
probably damaging |
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 |
|
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'- ATCGTGGACGCTTTCCTCATCG -3'
(R):5'- GCAACTATGCCCTCTGCCCAATTAC -3'
Sequencing Primer
(F):5'- ATCGGCTGCATGTTCATCAAG -3'
(R):5'- GCCCAATTACCATCCCTTTTTAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation