Incidental Mutation 'R1256:Kcnj16'
| ID |
151465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj16
|
| Ensembl Gene |
ENSMUSG00000051497 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 16 |
| Synonyms |
6430410F18Rik, Kir5.1 |
| MMRRC Submission |
039323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1256 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
110858859-110918794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110916262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 308
(H308R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106635]
[ENSMUST00000106636]
[ENSMUST00000125692]
[ENSMUST00000150902]
[ENSMUST00000178798]
[ENSMUST00000180023]
|
| AlphaFold |
Q9Z307 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106635
AA Change: H308R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: H308R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
357 |
9.3e-132 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106636
AA Change: H308R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: H308R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125692
|
| SMART Domains |
Protein: ENSMUSP00000119921
Gene: ENSMUSG00000051497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
103 |
3.4e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150902
|
| SMART Domains |
Protein: ENSMUSP00000121758
Gene: ENSMUSG00000051497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
66 |
1.5e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178798
AA Change: H308R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: H308R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180023
AA Change: H308R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: H308R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
368 |
2e-145 |
PFAM |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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 tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron response to ammonium chloride withdrawal and carbon dioxide treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
| Brat1 |
A |
G |
5: 140,695,962 (GRCm39) |
Q66R |
possibly damaging |
Het |
| Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
| Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
| Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
| Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
| Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
| Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
| Nif3l1 |
T |
A |
1: 58,494,808 (GRCm39) |
V259D |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
| Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
| Pepd |
A |
C |
7: 34,620,917 (GRCm39) |
T61P |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
| Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
| Psip1 |
A |
G |
4: 83,392,604 (GRCm39) |
S102P |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
| Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,735,445 (GRCm39) |
K354R |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
| Strn |
A |
C |
17: 78,972,046 (GRCm39) |
|
probably null |
Het |
| Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
| Txnl4a |
A |
G |
18: 80,250,487 (GRCm39) |
I28V |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
| Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
probably damaging |
Het |
|
| Other mutations in Kcnj16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Kcnj16
|
APN |
11 |
110,916,034 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00596:Kcnj16
|
APN |
11 |
110,915,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02152:Kcnj16
|
APN |
11 |
110,916,036 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02637:Kcnj16
|
APN |
11 |
110,916,439 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0054:Kcnj16
|
UTSW |
11 |
110,915,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Kcnj16
|
UTSW |
11 |
110,915,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Kcnj16
|
UTSW |
11 |
110,916,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1919:Kcnj16
|
UTSW |
11 |
110,915,779 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1985:Kcnj16
|
UTSW |
11 |
110,916,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2047:Kcnj16
|
UTSW |
11 |
110,915,946 (GRCm39) |
splice site |
probably null |
|
|
R2504:Kcnj16
|
UTSW |
11 |
110,916,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3915:Kcnj16
|
UTSW |
11 |
110,916,382 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6102:Kcnj16
|
UTSW |
11 |
110,916,403 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6225:Kcnj16
|
UTSW |
11 |
110,916,378 (GRCm39) |
nonsense |
probably null |
|
|
R6554:Kcnj16
|
UTSW |
11 |
110,916,131 (GRCm39) |
nonsense |
probably null |
|
|
R6620:Kcnj16
|
UTSW |
11 |
110,915,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Kcnj16
|
UTSW |
11 |
110,915,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7990:Kcnj16
|
UTSW |
11 |
110,915,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8161:Kcnj16
|
UTSW |
11 |
110,915,341 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R8414:Kcnj16
|
UTSW |
11 |
110,916,441 (GRCm39) |
missense |
probably benign |
|
|
R8810:Kcnj16
|
UTSW |
11 |
110,915,677 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8932:Kcnj16
|
UTSW |
11 |
110,915,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Kcnj16
|
UTSW |
11 |
110,915,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnj16
|
UTSW |
11 |
110,916,596 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Kcnj16
|
UTSW |
11 |
110,915,379 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGAAATTGACCATGAGAGCCC -3'
(R):5'- CATGCTTACAGCTTCTGGCCCTTAG -3'
Sequencing Primer
(F):5'- ACCATGAGAGCCCTCTGTATG -3'
(R):5'- TCCTATTTAAAGTCAGGAGGGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation