Incidental Mutation 'R3701:Kcnj5'
ID |
258521 |
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 |
040694-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3701 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
32226002-32255640 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32229124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 25
(T25A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149461
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034533]
[ENSMUST00000214223]
[ENSMUST00000216033]
|
AlphaFold |
P48545 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034533
AA Change: T338A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000034533 Gene: ENSMUSG00000032034 AA Change: T338A
Domain | Start | End | E-Value | Type |
Pfam:IRK
|
54 |
377 |
7e-147 |
PFAM |
low complexity region
|
387 |
405 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214223
AA Change: T338A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216033
AA Change: T25A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.1349 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (37/38) |
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 |
Adgrb1 |
A |
C |
15: 74,416,864 (GRCm39) |
K757T |
probably damaging |
Het |
Akr1c19 |
C |
T |
13: 4,293,032 (GRCm39) |
R263C |
probably damaging |
Het |
Asxl1 |
A |
G |
2: 153,241,264 (GRCm39) |
T605A |
probably benign |
Het |
Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
Clip4 |
A |
G |
17: 72,106,003 (GRCm39) |
D62G |
probably damaging |
Het |
Cstf1 |
A |
G |
2: 172,222,312 (GRCm39) |
T357A |
probably benign |
Het |
Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
Cyld |
T |
A |
8: 89,456,179 (GRCm39) |
S407T |
probably benign |
Het |
Dnph1 |
G |
A |
17: 46,809,637 (GRCm39) |
G101S |
possibly damaging |
Het |
Entrep1 |
T |
C |
19: 23,956,831 (GRCm39) |
E354G |
probably benign |
Het |
Esp38 |
A |
T |
17: 40,266,112 (GRCm39) |
R74* |
probably null |
Het |
Fdxr |
A |
T |
11: 115,160,527 (GRCm39) |
L336Q |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
Nbeal1 |
C |
T |
1: 60,290,572 (GRCm39) |
|
probably benign |
Het |
Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
Or14j3 |
G |
A |
17: 37,900,717 (GRCm39) |
Q176* |
probably null |
Het |
Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
Or9i14 |
T |
G |
19: 13,792,712 (GRCm39) |
I81L |
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,340,881 (GRCm39) |
Y613* |
probably null |
Het |
Phka2 |
T |
C |
X: 159,316,045 (GRCm39) |
V230A |
possibly damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,145,666 (GRCm39) |
S186P |
probably damaging |
Het |
Skic3 |
T |
C |
13: 76,261,798 (GRCm39) |
I171T |
probably benign |
Het |
Snx14 |
T |
C |
9: 88,302,296 (GRCm39) |
|
probably benign |
Het |
Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
Tmf1 |
A |
G |
6: 97,149,292 (GRCm39) |
F485S |
possibly damaging |
Het |
Tnfsf4 |
G |
A |
1: 161,244,778 (GRCm39) |
V156I |
possibly damaging |
Het |
Trdn |
C |
A |
10: 33,210,980 (GRCm39) |
Q391K |
probably damaging |
Het |
Ttc34 |
T |
C |
4: 154,949,939 (GRCm39) |
F964S |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,249,818 (GRCm39) |
S818P |
probably damaging |
Het |
Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
Zfp446 |
G |
A |
7: 12,712,079 (GRCm39) |
|
probably benign |
Het |
Zfp592 |
C |
T |
7: 80,687,159 (GRCm39) |
R821* |
probably null |
Het |
Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
Zfp983 |
G |
C |
17: 21,880,455 (GRCm39) |
E128Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCAGCCTCAGCACAG -3'
(R):5'- TGATGGATGGTGGAACAGGT -3'
Sequencing Primer
(F):5'- ACAGCCCCCAAGCAAGG -3'
(R):5'- AGGTGAATAGATGACTGGATGTATAG -3'
|
Posted On |
2015-01-23 |