Incidental Mutation 'R5563:Prkaa1'
| ID |
436716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkaa1
|
| Ensembl Gene |
ENSMUSG00000050697 |
| Gene Name |
protein kinase, AMP-activated, alpha 1 catalytic subunit |
| Synonyms |
C130083N04Rik, AMPKalpha1 |
| MMRRC Submission |
043120-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5563 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
5173343-5211380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5199437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 179
(E179G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051186]
[ENSMUST00000228218]
|
| AlphaFold |
Q5EG47 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051186
AA Change: E179G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: E179G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
27 |
279 |
2.23e-103 |
SMART |
|
low complexity region
|
305 |
318 |
N/A |
INTRINSIC |
|
Pfam:AdenylateSensor
|
406 |
503 |
1.3e-15 |
PFAM |
|
low complexity region
|
516 |
535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228218
AA Change: E170G
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle cell glucose uptake. Mice homozygous for a different knock-out allele exhibit anemia, reticulocytosis, splenomegaly, increased erythrocyte turnover, and elevated plasma erythropoietin levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Actn3 |
T |
C |
19: 4,922,344 (GRCm39) |
H101R |
probably damaging |
Het |
| Akp3 |
T |
C |
1: 87,053,646 (GRCm39) |
S174P |
probably damaging |
Het |
| Aldh5a1 |
C |
A |
13: 25,102,609 (GRCm39) |
A285S |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,730 (GRCm39) |
P36L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,082 (GRCm39) |
P288L |
probably benign |
Het |
| Fktn |
T |
A |
4: 53,761,327 (GRCm39) |
N481K |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,546,207 (GRCm39) |
H173Q |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,395,688 (GRCm39) |
R1021G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,525,581 (GRCm39) |
F337L |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,206 (GRCm39) |
Y51F |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,944 (GRCm39) |
K569E |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,144,530 (GRCm39) |
Q170R |
probably benign |
Het |
| Mfsd4b2 |
C |
T |
10: 39,798,038 (GRCm39) |
E106K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,914,185 (GRCm39) |
D285G |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,163,788 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
G |
9: 53,474,427 (GRCm39) |
I740V |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,535,956 (GRCm39) |
|
probably null |
Het |
| Plin2 |
T |
C |
4: 86,580,341 (GRCm39) |
K140R |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,200 (GRCm39) |
T697A |
probably benign |
Het |
| Prtg |
G |
A |
9: 72,764,180 (GRCm39) |
R551H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,897 (GRCm39) |
R254G |
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,070,652 (GRCm39) |
L194H |
probably damaging |
Het |
| Sp7 |
T |
C |
15: 102,267,755 (GRCm39) |
D17G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,712 (GRCm39) |
V128A |
possibly damaging |
Het |
| Uba5 |
G |
T |
9: 103,926,446 (GRCm39) |
T372K |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,846 (GRCm39) |
I284L |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,283 (GRCm39) |
T667A |
probably damaging |
Het |
|
| Other mutations in Prkaa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01100:Prkaa1
|
APN |
15 |
5,203,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01797:Prkaa1
|
APN |
15 |
5,198,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02442:Prkaa1
|
APN |
15 |
5,206,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02890:Prkaa1
|
APN |
15 |
5,206,567 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03146:Prkaa1
|
APN |
15 |
5,198,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03396:Prkaa1
|
APN |
15 |
5,206,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pressor
|
UTSW |
15 |
5,206,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Prkaa1
|
UTSW |
15 |
5,194,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Prkaa1
|
UTSW |
15 |
5,208,279 (GRCm39) |
missense |
probably benign |
|
|
R1466:Prkaa1
|
UTSW |
15 |
5,208,279 (GRCm39) |
missense |
probably benign |
|
|
R1804:Prkaa1
|
UTSW |
15 |
5,208,259 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1807:Prkaa1
|
UTSW |
15 |
5,173,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4381:Prkaa1
|
UTSW |
15 |
5,206,289 (GRCm39) |
missense |
probably benign |
|
|
R4398:Prkaa1
|
UTSW |
15 |
5,206,642 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4579:Prkaa1
|
UTSW |
15 |
5,190,082 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4689:Prkaa1
|
UTSW |
15 |
5,208,177 (GRCm39) |
missense |
probably benign |
|
|
R4832:Prkaa1
|
UTSW |
15 |
5,190,101 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4874:Prkaa1
|
UTSW |
15 |
5,203,838 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4876:Prkaa1
|
UTSW |
15 |
5,203,886 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5074:Prkaa1
|
UTSW |
15 |
5,206,392 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5260:Prkaa1
|
UTSW |
15 |
5,190,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5706:Prkaa1
|
UTSW |
15 |
5,203,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6363:Prkaa1
|
UTSW |
15 |
5,206,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Prkaa1
|
UTSW |
15 |
5,173,432 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7090:Prkaa1
|
UTSW |
15 |
5,206,611 (GRCm39) |
missense |
probably benign |
|
|
R7921:Prkaa1
|
UTSW |
15 |
5,206,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7989:Prkaa1
|
UTSW |
15 |
5,206,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Prkaa1
|
UTSW |
15 |
5,206,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8314:Prkaa1
|
UTSW |
15 |
5,208,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9183:Prkaa1
|
UTSW |
15 |
5,205,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATCTTCTAGTATTCAAAACCACCAC -3'
(R):5'- TGTCCTCGTTAGTGACATCAC -3'
Sequencing Primer
(F):5'- TTTCCAGTGATGGCCGACTAGAC -3'
(R):5'- GTGACATCACATCCTCAAGGCG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation