Incidental Mutation 'R4459:Kcnj5'
ID |
330063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnj5
|
Ensembl Gene |
ENSMUSG00000032034 |
Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 5 |
Synonyms |
GIRK4, Kir3.4 |
MMRRC Submission |
041579-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4459 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
32226002-32255640 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32233691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 208
(I208T)
|
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: I208T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000034533 Gene: ENSMUSG00000032034 AA Change: I208T
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: I208T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216033
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
C |
T |
14: 118,836,805 (GRCm39) |
R652Q |
probably benign |
Het |
Anks1b |
G |
A |
10: 90,346,706 (GRCm39) |
V669I |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
BC049715 |
G |
A |
6: 136,817,050 (GRCm39) |
A97T |
probably damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,708,208 (GRCm39) |
E422D |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,094,283 (GRCm39) |
I2920F |
possibly damaging |
Het |
Dnaaf6rt |
A |
G |
1: 31,262,405 (GRCm39) |
D129G |
probably damaging |
Het |
Efcab6 |
C |
T |
15: 83,788,490 (GRCm39) |
G935S |
probably damaging |
Het |
Esp3 |
C |
G |
17: 40,944,478 (GRCm39) |
T40S |
probably null |
Het |
Gc |
T |
C |
5: 89,589,146 (GRCm39) |
M206V |
probably benign |
Het |
Gm15446 |
A |
T |
5: 110,091,107 (GRCm39) |
H453L |
probably benign |
Het |
Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
Ighg2b |
T |
C |
12: 113,270,578 (GRCm39) |
Y184C |
unknown |
Het |
Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
Lrfn4 |
C |
T |
19: 4,662,662 (GRCm39) |
V452I |
probably benign |
Het |
Mypn |
A |
G |
10: 63,028,211 (GRCm39) |
V284A |
probably damaging |
Het |
Or14j9 |
G |
A |
17: 37,874,365 (GRCm39) |
T279I |
probably damaging |
Het |
Or2y1e |
A |
T |
11: 49,218,703 (GRCm39) |
N155I |
probably damaging |
Het |
Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
Or8c20 |
T |
A |
9: 38,261,288 (GRCm39) |
V297D |
probably damaging |
Het |
Pcdhgb6 |
C |
T |
18: 37,875,759 (GRCm39) |
P156S |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
Prl7a2 |
A |
G |
13: 27,849,979 (GRCm39) |
V31A |
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
Rmnd5a |
C |
T |
6: 71,373,865 (GRCm39) |
G310R |
probably damaging |
Het |
Rrm2b |
T |
A |
15: 37,945,397 (GRCm39) |
|
probably null |
Het |
Smg8 |
T |
C |
11: 86,976,396 (GRCm39) |
D395G |
probably benign |
Het |
Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
Tyk2 |
T |
C |
9: 21,035,711 (GRCm39) |
E157G |
probably damaging |
Het |
Wdr90 |
T |
A |
17: 26,079,976 (GRCm39) |
T120S |
possibly damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCGTCACCAGTGTCAAAG -3'
(R):5'- AACCTTAGCGGCTTTGTATCTGC -3'
Sequencing Primer
(F):5'- GTGTCAAAGCCCACATTAATGTCG -3'
(R):5'- TTCCTGTTCTCCATCGAGACAGAAAC -3'
|
Posted On |
2015-07-21 |