Incidental Mutation 'R6334:Kcnj15'
| ID |
510727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj15
|
| Ensembl Gene |
ENSMUSG00000062609 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 15 |
| Synonyms |
IRKK, Kir4.2, 4930414N08Rik |
| MMRRC Submission |
044488-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
95058417-95101119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 95097095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 239
(L239R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037154]
[ENSMUST00000113854]
[ENSMUST00000113855]
[ENSMUST00000113856]
[ENSMUST00000113858]
[ENSMUST00000113859]
[ENSMUST00000113861]
[ENSMUST00000113862]
[ENSMUST00000125847]
[ENSMUST00000152516]
[ENSMUST00000140222]
[ENSMUST00000134166]
[ENSMUST00000138329]
|
| AlphaFold |
O88932 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037154
AA Change: L239R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045218
Gene: ENSMUSG00000062609
AA Change: L239R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
57 |
384 |
4.4e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113854
AA Change: L212R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109485
Gene: ENSMUSG00000062609
AA Change: L212R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
30 |
365 |
2.5e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113855
AA Change: L212R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109486
Gene: ENSMUSG00000062609
AA Change: L212R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
30 |
365 |
2.5e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113856
AA Change: L212R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109487
Gene: ENSMUSG00000062609
AA Change: L212R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
30 |
365 |
2.5e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113858
AA Change: L212R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109489
Gene: ENSMUSG00000062609
AA Change: L212R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
57 |
392 |
4.9e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113859
AA Change: L239R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109490
Gene: ENSMUSG00000062609
AA Change: L239R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
57 |
392 |
4.9e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113861
AA Change: L239R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109492
Gene: ENSMUSG00000062609
AA Change: L239R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
57 |
392 |
4.9e-150 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113862
AA Change: L239R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109493
Gene: ENSMUSG00000062609
AA Change: L239R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
57 |
392 |
4.9e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134166
|
| SMART Domains |
Protein: ENSMUSP00000118992
Gene: ENSMUSG00000062609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
57 |
173 |
8.9e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138329
|
| Meta Mutation Damage Score |
0.5837 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (64/64) |
| 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 has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous knockout mice exhibited impaired balance/coordination in a high-throughput screen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,770,940 (GRCm39) |
S141T |
probably benign |
Het |
| Afap1l2 |
A |
G |
19: 56,906,408 (GRCm39) |
|
probably null |
Het |
| Aox1 |
C |
T |
1: 58,346,566 (GRCm39) |
Q567* |
probably null |
Het |
| Aqp4 |
T |
A |
18: 15,526,648 (GRCm39) |
M278L |
probably benign |
Het |
| Atp23 |
A |
C |
10: 126,723,538 (GRCm39) |
L188R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,905,782 (GRCm39) |
G215D |
probably benign |
Het |
| Cavin4 |
T |
C |
4: 48,663,824 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
| Cfap46 |
T |
C |
7: 139,260,747 (GRCm39) |
E117G |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,701,662 (GRCm39) |
|
probably null |
Het |
| Chek1 |
A |
G |
9: 36,625,788 (GRCm39) |
S286P |
possibly damaging |
Het |
| Cntn4 |
G |
A |
6: 106,321,747 (GRCm39) |
V35I |
probably benign |
Het |
| Cntn4 |
C |
A |
6: 106,483,153 (GRCm39) |
P236Q |
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,753 (GRCm39) |
G84V |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,427,989 (GRCm39) |
H205L |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,453,305 (GRCm39) |
V845I |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,216,292 (GRCm39) |
K7E |
possibly damaging |
Het |
| Eloa |
G |
A |
4: 135,737,133 (GRCm39) |
P488S |
probably damaging |
Het |
| Evi5 |
G |
A |
5: 107,968,387 (GRCm39) |
R187* |
probably null |
Het |
| Fam53a |
T |
A |
5: 33,758,219 (GRCm39) |
L301F |
probably damaging |
Het |
| Fmnl3 |
T |
C |
15: 99,235,534 (GRCm39) |
K63E |
probably damaging |
Het |
| Gast |
C |
A |
11: 100,227,438 (GRCm39) |
Q44K |
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,257 (GRCm39) |
V7E |
probably benign |
Het |
| Gtf3c5 |
G |
A |
2: 28,460,474 (GRCm39) |
T375I |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hspa14 |
A |
T |
2: 3,490,109 (GRCm39) |
|
probably null |
Het |
| Kcna3 |
T |
C |
3: 106,943,740 (GRCm39) |
M1T |
probably null |
Het |
| Klhl2 |
G |
T |
8: 65,212,842 (GRCm39) |
D232E |
probably benign |
Het |
| Lamb3 |
A |
T |
1: 193,017,782 (GRCm39) |
I888F |
probably damaging |
Het |
| Lars1 |
C |
A |
18: 42,350,551 (GRCm39) |
M919I |
probably benign |
Het |
| Lfng |
T |
C |
5: 140,598,522 (GRCm39) |
V247A |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,679,045 (GRCm39) |
A16T |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,341,270 (GRCm39) |
I235N |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,290,612 (GRCm39) |
L492Q |
probably damaging |
Het |
| Mcpt8 |
A |
G |
14: 56,322,604 (GRCm39) |
V14A |
possibly damaging |
Het |
| Myo1b |
T |
C |
1: 51,807,810 (GRCm39) |
K823R |
probably null |
Het |
| Nbea |
G |
T |
3: 55,944,570 (GRCm39) |
T598K |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,619,083 (GRCm39) |
H877N |
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,581,322 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,957,596 (GRCm39) |
I309F |
possibly damaging |
Het |
| Phyhd1 |
G |
A |
2: 30,164,736 (GRCm39) |
|
probably null |
Het |
| Pkp2 |
C |
T |
16: 16,043,933 (GRCm39) |
T229I |
probably damaging |
Het |
| Plagl2 |
G |
A |
2: 153,074,611 (GRCm39) |
P97S |
probably benign |
Het |
| Plekhh2 |
C |
A |
17: 84,874,294 (GRCm39) |
N526K |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,410,261 (GRCm39) |
L1217P |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,527,222 (GRCm39) |
S67P |
possibly damaging |
Het |
| Postn |
A |
G |
3: 54,292,703 (GRCm39) |
K757E |
probably benign |
Het |
| Prpf39 |
T |
A |
12: 65,089,587 (GRCm39) |
|
probably null |
Het |
| Ptprg |
C |
T |
14: 12,166,832 (GRCm38) |
T745I |
probably damaging |
Het |
| Pxylp1 |
C |
G |
9: 96,707,307 (GRCm39) |
A292P |
probably damaging |
Het |
| Rpl35 |
G |
T |
2: 38,891,754 (GRCm39) |
D82E |
possibly damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,149,519 (GRCm39) |
V782I |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,240,875 (GRCm39) |
M415K |
possibly damaging |
Het |
| Tmem117 |
A |
C |
15: 94,909,324 (GRCm39) |
I246L |
probably benign |
Het |
| Tmem221 |
A |
T |
8: 72,011,428 (GRCm39) |
V9E |
probably damaging |
Het |
| Trav13-5 |
A |
G |
14: 54,033,399 (GRCm39) |
T103A |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,007 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
G |
T |
17: 19,810,112 (GRCm39) |
M299I |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,014,344 (GRCm39) |
S379T |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,761,440 (GRCm39) |
N639S |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,030,771 (GRCm39) |
|
|
Het |
| Zfp109 |
T |
A |
7: 23,928,308 (GRCm39) |
Y367F |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,685,338 (GRCm39) |
C389Y |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,836,064 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Kcnj15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00733:Kcnj15
|
APN |
16 |
95,097,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03096:Kcnj15
|
APN |
16 |
95,097,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1117:Kcnj15
|
UTSW |
16 |
95,096,484 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3911:Kcnj15
|
UTSW |
16 |
95,097,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Kcnj15
|
UTSW |
16 |
95,097,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3928:Kcnj15
|
UTSW |
16 |
95,097,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4155:Kcnj15
|
UTSW |
16 |
95,097,166 (GRCm39) |
nonsense |
probably null |
|
|
R4613:Kcnj15
|
UTSW |
16 |
95,096,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Kcnj15
|
UTSW |
16 |
95,097,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Kcnj15
|
UTSW |
16 |
95,096,527 (GRCm39) |
nonsense |
probably null |
|
|
R6446:Kcnj15
|
UTSW |
16 |
95,097,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6727:Kcnj15
|
UTSW |
16 |
95,097,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Kcnj15
|
UTSW |
16 |
95,096,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Kcnj15
|
UTSW |
16 |
95,096,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Kcnj15
|
UTSW |
16 |
95,097,548 (GRCm39) |
unclassified |
probably benign |
|
|
R9018:Kcnj15
|
UTSW |
16 |
95,097,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9167:Kcnj15
|
UTSW |
16 |
95,096,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Kcnj15
|
UTSW |
16 |
95,097,481 (GRCm39) |
missense |
probably benign |
|
|
R9371:Kcnj15
|
UTSW |
16 |
95,097,556 (GRCm39) |
missense |
unknown |
|
|
R9760:Kcnj15
|
UTSW |
16 |
95,096,483 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1088:Kcnj15
|
UTSW |
16 |
95,096,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTGGTCATCACCACATTG -3'
(R):5'- CGTTGAGAAGTACCACCAGC -3'
Sequencing Primer
(F):5'- CTGGTCATCACCACATTGATTGAG -3'
(R):5'- GTTGAGAAGTACCACCAGCTCAAAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation