Incidental Mutation 'IGL02683:Kcnj5'
| ID |
303443 |
| 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 # |
IGL02683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
32226002-32255640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32229076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 41
(T41A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034533]
[ENSMUST00000214223]
[ENSMUST00000216033]
|
| AlphaFold |
P48545 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034533
AA Change: T354A
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: T354A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
54 |
377 |
7e-147 |
PFAM |
|
low complexity region
|
387 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214223
AA Change: T354A
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216033
AA Change: T41A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
| Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
| Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
| Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
| Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,790,409 (GRCm39) |
K547E |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
| E2f7 |
T |
C |
10: 110,618,320 (GRCm39) |
M795T |
probably benign |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,705,261 (GRCm39) |
V151M |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 35,937,762 (GRCm39) |
T448A |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
| Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
| Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
| Nudt5 |
C |
A |
2: 5,868,412 (GRCm39) |
S103R |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
| Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
| Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
| Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,374,969 (GRCm39) |
V1227A |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,951 (GRCm39) |
W536R |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
| Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
| Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
| Vezf1 |
A |
T |
11: 87,967,153 (GRCm39) |
Q310L |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
| Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
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 |
|
IGL01700:Kcnj5
|
APN |
9 |
32,233,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02250:Kcnj5
|
APN |
9 |
32,229,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation