Incidental Mutation 'R8156:Prkaa2'
| ID |
633310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkaa2
|
| Ensembl Gene |
ENSMUSG00000028518 |
| Gene Name |
protein kinase, AMP-activated, alpha 2 catalytic subunit |
| Synonyms |
AMPKalpha2, 2310008I11Rik |
| MMRRC Submission |
067582-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8156 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
104887071-104967087 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104909172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 91
(M91V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030243]
|
| AlphaFold |
Q8BRK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030243
AA Change: M91V
PolyPhen 2
Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: M91V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
16 |
268 |
1.47e-103 |
SMART |
|
Pfam:AdenylateSensor
|
401 |
501 |
6.4e-18 |
PFAM |
|
low complexity region
|
511 |
527 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are hyperglycemic, hypoinsulinemic, and show glucose intolerance and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
T |
C |
11: 120,489,074 (GRCm39) |
R31G |
probably benign |
Het |
| Arfgef2 |
GTGTGCAGAAACT |
GT |
2: 166,676,383 (GRCm39) |
92 |
probably null |
Het |
| Arhgap31 |
G |
T |
16: 38,445,991 (GRCm39) |
A118E |
probably damaging |
Het |
| Asb5 |
T |
A |
8: 55,003,541 (GRCm39) |
I21K |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,546,760 (GRCm39) |
I515V |
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,665 (GRCm39) |
P236S |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,566,824 (GRCm39) |
T351A |
probably benign |
Het |
| Cd1d2 |
T |
A |
3: 86,894,569 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
A |
17: 15,981,666 (GRCm39) |
D1368E |
probably benign |
Het |
| Chrnb3 |
A |
G |
8: 27,883,682 (GRCm39) |
I140V |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,817,825 (GRCm39) |
D65G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,432,625 (GRCm39) |
T843A |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
G |
9: 86,376,510 (GRCm39) |
D248G |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,723,388 (GRCm39) |
C197* |
probably null |
Het |
| Flg2 |
T |
C |
3: 93,127,390 (GRCm39) |
S2101P |
unknown |
Het |
| Foxg1 |
A |
G |
12: 49,431,429 (GRCm39) |
H54R |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr35 |
A |
G |
1: 92,910,437 (GRCm39) |
T50A |
probably damaging |
Het |
| Gsta3 |
A |
T |
1: 21,330,322 (GRCm39) |
Y108F |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,886,138 (GRCm39) |
A811E |
probably damaging |
Het |
| Hephl1 |
A |
T |
9: 14,972,210 (GRCm39) |
V910E |
possibly damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,280 (GRCm39) |
Y384F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,733,686 (GRCm39) |
I2210M |
unknown |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,992,196 (GRCm39) |
|
probably null |
Het |
| Lsm4 |
G |
A |
8: 71,131,018 (GRCm39) |
G112S |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,464,554 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
T |
C |
2: 25,138,746 (GRCm39) |
R396G |
probably benign |
Het |
| Or10ag56 |
A |
C |
2: 87,139,318 (GRCm39) |
I82L |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Prdm2 |
A |
G |
4: 142,861,338 (GRCm39) |
S651P |
probably benign |
Het |
| Pskh1 |
G |
A |
8: 106,640,226 (GRCm39) |
R302H |
probably benign |
Het |
| Rab11fip4 |
A |
G |
11: 79,577,415 (GRCm39) |
T390A |
probably benign |
Het |
| Snx10 |
T |
C |
6: 51,538,999 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,847,393 (GRCm39) |
C264R |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,737,138 (GRCm39) |
C1438R |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,173,486 (GRCm39) |
T3A |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,609,975 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
A |
G |
9: 114,342,192 (GRCm39) |
S697P |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,269,057 (GRCm39) |
D258G |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,183 (GRCm39) |
Y9H |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,099,115 (GRCm39) |
H373L |
probably damaging |
Het |
|
| Other mutations in Prkaa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Prkaa2
|
APN |
4 |
104,932,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01350:Prkaa2
|
APN |
4 |
104,909,109 (GRCm39) |
splice site |
probably null |
|
|
IGL01474:Prkaa2
|
APN |
4 |
104,906,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02149:Prkaa2
|
APN |
4 |
104,897,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02187:Prkaa2
|
APN |
4 |
104,904,363 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03185:Prkaa2
|
APN |
4 |
104,896,918 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0004:Prkaa2
|
UTSW |
4 |
104,904,288 (GRCm39) |
missense |
probably null |
1.00 |
|
R1536:Prkaa2
|
UTSW |
4 |
104,932,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Prkaa2
|
UTSW |
4 |
104,908,420 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1596:Prkaa2
|
UTSW |
4 |
104,893,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Prkaa2
|
UTSW |
4 |
104,893,950 (GRCm39) |
nonsense |
probably null |
|
|
R2356:Prkaa2
|
UTSW |
4 |
104,896,918 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2995:Prkaa2
|
UTSW |
4 |
104,909,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4037:Prkaa2
|
UTSW |
4 |
104,908,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4038:Prkaa2
|
UTSW |
4 |
104,908,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4039:Prkaa2
|
UTSW |
4 |
104,908,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4257:Prkaa2
|
UTSW |
4 |
104,897,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4810:Prkaa2
|
UTSW |
4 |
104,897,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Prkaa2
|
UTSW |
4 |
104,897,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Prkaa2
|
UTSW |
4 |
104,893,291 (GRCm39) |
makesense |
probably null |
|
|
R6812:Prkaa2
|
UTSW |
4 |
104,904,349 (GRCm39) |
missense |
probably benign |
|
|
R7417:Prkaa2
|
UTSW |
4 |
104,932,740 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8326:Prkaa2
|
UTSW |
4 |
104,893,495 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9051:Prkaa2
|
UTSW |
4 |
104,906,600 (GRCm39) |
nonsense |
probably null |
|
|
R9422:Prkaa2
|
UTSW |
4 |
104,909,195 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTGTATATGTAGTCCATGTTACAG -3'
(R):5'- AAGTGGGAGACTTGTAACCTCC -3'
Sequencing Primer
(F):5'- GTTACAGAAACAATTAAAGCACTGG -3'
(R):5'- AATAGCAGATGGGGTTGGT -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation