Incidental Mutation 'R4605:Kcnj2'
| ID |
345973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj2
|
| Ensembl Gene |
ENSMUSG00000041695 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 2 |
| Synonyms |
Kcnf1, IRK1, Kir2.1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4605 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
110956990-110967647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110963676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 356
(C356Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042970]
|
| AlphaFold |
P35561 |
| PDB Structure |
Crystal Structure of Cytoplasmic Domains of IRK1 (Kir2.1) channel [X-RAY DIFFRACTION]
Cytoplasmic Domain Structure of Kir2.1 containing Andersen's Mutation R218Q and Rescue Mutation T309K [X-RAY DIFFRACTION]
Single particle analysis of Kir2.1NC_4 in negative stain [SOLUTION SCATTERING, ELECTRON MICROSCOPY]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042970
AA Change: C356Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037192
Gene: ENSMUSG00000041695
AA Change: C356Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK_N
|
1 |
47 |
2.9e-29 |
PFAM |
|
Pfam:IRK
|
48 |
373 |
7.3e-158 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation die within 8-12 hours after birth, displaying cyanosis and respiratory distress, as well as complete cleft of the secondary palate, and loss of K+-mediated vasodilatation in cerebral arteries. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankra2 |
A |
G |
13: 98,402,742 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
| Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
| Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
| Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
| Extl1 |
A |
G |
4: 134,087,145 (GRCm39) |
V471A |
probably benign |
Het |
| Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
| Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
| Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
| Maip1 |
A |
G |
1: 57,450,891 (GRCm39) |
I178V |
probably benign |
Het |
| Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
| Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,445 (GRCm39) |
I174L |
probably benign |
Het |
| Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
| Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,984,566 (GRCm39) |
Y187* |
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
| Smyd2 |
A |
G |
1: 189,629,623 (GRCm39) |
S136P |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
| Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
| Tbx19 |
C |
T |
1: 164,981,153 (GRCm39) |
V114I |
possibly damaging |
Het |
| Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,097,947 (GRCm39) |
W150R |
probably damaging |
Het |
|
| Other mutations in Kcnj2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Kcnj2
|
APN |
11 |
110,962,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Kcnj2
|
APN |
11 |
110,963,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0090:Kcnj2
|
UTSW |
11 |
110,963,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1162:Kcnj2
|
UTSW |
11 |
110,963,793 (GRCm39) |
missense |
probably benign |
|
|
R1990:Kcnj2
|
UTSW |
11 |
110,963,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3948:Kcnj2
|
UTSW |
11 |
110,963,481 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4417:Kcnj2
|
UTSW |
11 |
110,963,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Kcnj2
|
UTSW |
11 |
110,963,297 (GRCm39) |
nonsense |
probably null |
|
|
R5439:Kcnj2
|
UTSW |
11 |
110,963,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Kcnj2
|
UTSW |
11 |
110,962,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Kcnj2
|
UTSW |
11 |
110,963,315 (GRCm39) |
missense |
probably benign |
|
|
R7126:Kcnj2
|
UTSW |
11 |
110,963,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7713:Kcnj2
|
UTSW |
11 |
110,963,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8007:Kcnj2
|
UTSW |
11 |
110,963,884 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9019:Kcnj2
|
UTSW |
11 |
110,963,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Kcnj2
|
UTSW |
11 |
110,962,664 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9073:Kcnj2
|
UTSW |
11 |
110,962,664 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9252:Kcnj2
|
UTSW |
11 |
110,963,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9327:Kcnj2
|
UTSW |
11 |
110,963,719 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9418:Kcnj2
|
UTSW |
11 |
110,963,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0052:Kcnj2
|
UTSW |
11 |
110,962,682 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1176:Kcnj2
|
UTSW |
11 |
110,962,961 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCATACTGGAAGGCATGGTG -3'
(R):5'- ATATCTCCGATTCTCGCCTTAAGG -3'
Sequencing Primer
(F):5'- CATGGTGGAGGCGACTG -3'
(R):5'- CTCTAGAGGTACGCTTGCCTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation