Incidental Mutation 'R6620:Kcnj16'
| ID |
528138 |
| 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 |
044743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6620 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110858859-110918794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110915473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 45
(V45A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121758
(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: V45A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: V45A
| 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: V45A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: V45A
| 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: ENSMUST00000125692
AA Change: V45A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119921
Gene: ENSMUSG00000051497
AA Change: V45A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
103 |
3.4e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150902
AA Change: V45A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121758
Gene: ENSMUSG00000051497
AA Change: V45A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
37 |
66 |
1.5e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178798
AA Change: V45A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: V45A
| 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: V45A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: V45A
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
T |
3: 36,120,294 (GRCm39) |
A13S |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,674 (GRCm39) |
E4653K |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,149,401 (GRCm39) |
P1485L |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,851,902 (GRCm39) |
L397* |
probably null |
Het |
| Ces1e |
C |
A |
8: 93,950,546 (GRCm39) |
K79N |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,527,331 (GRCm39) |
I2666M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,570,355 (GRCm39) |
N361I |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,815,125 (GRCm39) |
M1247I |
probably benign |
Het |
| Evi5l |
C |
A |
8: 4,256,674 (GRCm39) |
A720E |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,014,375 (GRCm39) |
F549L |
probably damaging |
Het |
| Gpx2 |
T |
C |
12: 76,839,674 (GRCm39) |
N108S |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,293,155 (GRCm39) |
|
probably null |
Het |
| Kng1 |
T |
C |
16: 22,900,232 (GRCm39) |
L402P |
possibly damaging |
Het |
| Lct |
C |
A |
1: 128,222,809 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,112,888 (GRCm39) |
K106N |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,711,061 (GRCm39) |
I115F |
possibly damaging |
Het |
| Mapre2 |
T |
C |
18: 23,991,002 (GRCm39) |
V123A |
probably benign |
Het |
| Mtfr1l |
A |
G |
4: 134,256,394 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
A |
9: 39,934,225 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c99 |
A |
G |
2: 88,356,743 (GRCm39) |
Y272C |
probably damaging |
Het |
| Pbxip1 |
G |
A |
3: 89,355,133 (GRCm39) |
V551I |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,581 (GRCm39) |
I21T |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,518,601 (GRCm39) |
R296Q |
probably damaging |
Het |
| Psme2 |
A |
C |
14: 55,825,928 (GRCm39) |
D126E |
probably damaging |
Het |
| Psmg2 |
T |
C |
18: 67,774,807 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,291,629 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
C |
T |
14: 56,135,172 (GRCm39) |
R257H |
probably damaging |
Het |
| Sorbs2 |
G |
T |
8: 46,249,213 (GRCm39) |
R802S |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,067,571 (GRCm39) |
N78D |
possibly damaging |
Het |
| Spatc1l |
A |
G |
10: 76,405,756 (GRCm39) |
D320G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,923,579 (GRCm39) |
Y212H |
possibly damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,822,082 (GRCm39) |
M253I |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,932,130 (GRCm39) |
E693G |
possibly damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,638 (GRCm39) |
N622K |
probably benign |
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 |
|
R1256:Kcnj16
|
UTSW |
11 |
110,916,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- AACTTTTAACTGACATCGGACTCC -3'
(R):5'- ATGCACGTTGTCAACACAAG -3'
Sequencing Primer
(F):5'- GACATCGGACTCCTCTGAATG -3'
(R):5'- ATCTGGATCGCTTAATAGGTCTCCG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation