Incidental Mutation 'IGL02250:Kcnj5'
| ID |
286335 |
| 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 # |
IGL02250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
32226002-32255640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32229052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 49
(C49R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034533]
[ENSMUST00000214223]
[ENSMUST00000216033]
|
| AlphaFold |
P48545 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034533
AA Change: C362R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034533
Gene: ENSMUSG00000032034
AA Change: C362R
| 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: C362R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216033
AA Change: C49R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
T |
A |
7: 28,329,135 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Areg |
T |
A |
5: 91,288,967 (GRCm39) |
I91K |
possibly damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,993 (GRCm39) |
R79C |
probably benign |
Het |
| Bbs2 |
A |
T |
8: 94,819,054 (GRCm39) |
I105N |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,756,337 (GRCm39) |
I1090N |
probably damaging |
Het |
| Ccdc90b |
T |
A |
7: 92,223,823 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,721,939 (GRCm39) |
F221I |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,379,246 (GRCm39) |
A62V |
probably damaging |
Het |
| Cntn5 |
G |
A |
9: 10,145,336 (GRCm39) |
R125C |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,352,240 (GRCm39) |
D321E |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,139,550 (GRCm39) |
|
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,088,166 (GRCm39) |
S184T |
probably benign |
Het |
| Emcn |
T |
A |
3: 137,124,747 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,326,899 (GRCm39) |
|
probably benign |
Het |
| Gas2 |
T |
A |
7: 51,537,786 (GRCm39) |
M37K |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,297,361 (GRCm39) |
S100G |
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,244,845 (GRCm39) |
D236E |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,042,000 (GRCm39) |
S1273T |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,359,557 (GRCm39) |
I138T |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,460,251 (GRCm39) |
Y66* |
probably null |
Het |
| Nup160 |
A |
G |
2: 90,539,214 (GRCm39) |
R798G |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,222 (GRCm39) |
I250V |
probably damaging |
Het |
| Or8b54 |
C |
A |
9: 38,686,850 (GRCm39) |
Q100K |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,706,893 (GRCm39) |
G548E |
probably benign |
Het |
| Radil |
A |
G |
5: 142,529,529 (GRCm39) |
S56P |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,959,489 (GRCm39) |
M1137K |
probably benign |
Het |
| Serpina1c |
T |
G |
12: 103,863,487 (GRCm39) |
M238L |
probably benign |
Het |
| Tbc1d14 |
A |
G |
5: 36,728,863 (GRCm39) |
S168P |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,487,387 (GRCm39) |
S498P |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,312,135 (GRCm39) |
Y607H |
probably damaging |
Het |
| Vipr1 |
A |
G |
9: 121,494,255 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,356 (GRCm39) |
T2199I |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,509,883 (GRCm39) |
S86P |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,489,994 (GRCm39) |
K1254E |
possibly damaging |
Het |
| Zfp873 |
T |
A |
10: 81,894,252 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation