Incidental Mutation 'R4257:Prkaa2'
| ID |
321854 |
| 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 |
041070-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4257 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
104887071-104967087 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104897153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 353
(D353E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030243]
|
| AlphaFold |
Q8BRK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030243
AA Change: D353E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: D353E
| 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 |
|
| Meta Mutation Damage Score |
0.0586 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
| Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
| Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,533,107 (GRCm39) |
L440P |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
| Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
| Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
| Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,851,324 (GRCm39) |
V874A |
probably damaging |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,146 (GRCm39) |
M111V |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,154,494 (GRCm39) |
I599V |
probably damaging |
Het |
| Upp2 |
A |
T |
2: 58,670,106 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
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 |
|
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 |
|
R8156:Prkaa2
|
UTSW |
4 |
104,909,172 (GRCm39) |
missense |
probably benign |
0.44 |
|
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'- TGTCACACGCTTTGCTCTGG -3'
(R):5'- TCCTACGATGCGAATGTCATTG -3'
Sequencing Primer
(F):5'- CTGGCTTCGGATTCCAAGATGC -3'
(R):5'- CTACGATGCGAATGTCATTGACGATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation