Incidental Mutation 'IGL01700:Kcnj5'
| ID |
104432 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnj5
|
| Ensembl Gene |
ENSMUSG00000032034 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 5 |
| Synonyms |
GIRK4, Kir3.4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01700
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
32226002-32255640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32233925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 130
(V130A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034533]
[ENSMUST00000214223]
[ENSMUST00000216033]
|
| AlphaFold |
P48545 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034533
AA Change: V130A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
54 |
377 |
7e-147 |
PFAM |
|
low complexity region
|
387 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214223
AA Change: V130A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216033
|
| Coding Region Coverage |
|
| 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, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit mild resting tachycardias and reduced muscarinic-gated atrial potassium channel responses to pharmacological stimulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,319,549 (GRCm39) |
M1778L |
probably benign |
Het |
| Aldh6a1 |
C |
T |
12: 84,486,312 (GRCm39) |
C202Y |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,582,198 (GRCm39) |
T276A |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,517,702 (GRCm39) |
I556T |
probably benign |
Het |
| Aqp4 |
A |
G |
18: 15,532,922 (GRCm39) |
I57T |
probably benign |
Het |
| Atp1a1 |
T |
C |
3: 101,501,574 (GRCm39) |
D43G |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,433,727 (GRCm39) |
R172H |
probably damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,716 (GRCm39) |
R125* |
probably null |
Het |
| Efcab9 |
T |
C |
11: 32,477,451 (GRCm39) |
R24G |
probably damaging |
Het |
| F7 |
C |
A |
8: 13,078,685 (GRCm39) |
Q39K |
probably benign |
Het |
| Galntl6 |
A |
T |
8: 58,411,494 (GRCm39) |
|
probably benign |
Het |
| Magee2 |
A |
G |
X: 103,899,574 (GRCm39) |
I359T |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,102,238 (GRCm39) |
I843S |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,762 (GRCm39) |
M98K |
probably damaging |
Het |
| Nrip3 |
T |
A |
7: 109,361,074 (GRCm39) |
N200I |
possibly damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,810 (GRCm39) |
N40K |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,744,094 (GRCm39) |
Q581L |
probably benign |
Het |
| Plxdc2 |
T |
C |
2: 16,516,926 (GRCm39) |
V69A |
probably benign |
Het |
| Pou3f1 |
G |
T |
4: 124,552,650 (GRCm39) |
W384L |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,369,643 (GRCm39) |
S1890L |
possibly damaging |
Het |
| Psmc1 |
C |
A |
12: 100,079,337 (GRCm39) |
P27H |
probably damaging |
Het |
| Pvr |
C |
A |
7: 19,643,157 (GRCm39) |
A359S |
probably benign |
Het |
| Rasal1 |
A |
T |
5: 120,814,882 (GRCm39) |
I711F |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,266,968 (GRCm39) |
A223V |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,479,904 (GRCm39) |
I638L |
unknown |
Het |
| Slfn10-ps |
C |
T |
11: 82,919,938 (GRCm39) |
|
noncoding transcript |
Het |
| Sptbn4 |
A |
G |
7: 27,103,693 (GRCm39) |
L1176P |
probably damaging |
Het |
| Usp21 |
A |
T |
1: 171,110,975 (GRCm39) |
F421I |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,800,573 (GRCm39) |
P416S |
probably damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,614,202 (GRCm39) |
R37S |
possibly damaging |
Het |
| Vps13a |
G |
A |
19: 16,722,221 (GRCm39) |
R364* |
probably null |
Het |
| Vps29 |
A |
G |
5: 122,500,930 (GRCm39) |
Y165C |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,742,195 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,044,802 (GRCm39) |
D219G |
probably damaging |
Het |
| Xpo1 |
T |
C |
11: 23,226,422 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
C |
A |
2: 174,486,711 (GRCm39) |
T462K |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,843,658 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kcnj5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00960:Kcnj5
|
APN |
9 |
32,233,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02250:Kcnj5
|
APN |
9 |
32,229,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Kcnj5
|
APN |
9 |
32,229,076 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02981:Kcnj5
|
APN |
9 |
32,233,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Kcnj5
|
UTSW |
9 |
32,229,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Kcnj5
|
UTSW |
9 |
32,234,269 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0524:Kcnj5
|
UTSW |
9 |
32,234,270 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1711:Kcnj5
|
UTSW |
9 |
32,233,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Kcnj5
|
UTSW |
9 |
32,233,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Kcnj5
|
UTSW |
9 |
32,233,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Kcnj5
|
UTSW |
9 |
32,234,196 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2424:Kcnj5
|
UTSW |
9 |
32,234,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3701:Kcnj5
|
UTSW |
9 |
32,229,124 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4459:Kcnj5
|
UTSW |
9 |
32,233,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Kcnj5
|
UTSW |
9 |
32,233,973 (GRCm39) |
missense |
probably benign |
|
|
R5422:Kcnj5
|
UTSW |
9 |
32,229,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Kcnj5
|
UTSW |
9 |
32,229,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7185:Kcnj5
|
UTSW |
9 |
32,233,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Kcnj5
|
UTSW |
9 |
32,234,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7294:Kcnj5
|
UTSW |
9 |
32,234,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Kcnj5
|
UTSW |
9 |
32,234,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Kcnj5
|
UTSW |
9 |
32,234,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Kcnj5
|
UTSW |
9 |
32,233,491 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7688:Kcnj5
|
UTSW |
9 |
32,234,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7911:Kcnj5
|
UTSW |
9 |
32,233,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Kcnj5
|
UTSW |
9 |
32,233,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnj5
|
UTSW |
9 |
32,228,994 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2014-01-21 |
Incidental Mutation