Incidental Mutation 'R4874:Prkaa1'
| ID |
376793 |
| 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 |
042484-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
5173343-5211380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5203838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 249
(N249S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051186]
[ENSMUST00000228218]
|
| AlphaFold |
Q5EG47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051186
AA Change: N249S
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: N249S
| 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 |
noncoding transcript
Transcript: ENSMUST00000150079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228218
AA Change: N240S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0726 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (51/54) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
G |
A |
8: 60,969,147 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
A |
G |
4: 86,260,729 (GRCm39) |
N988S |
possibly damaging |
Het |
| Aph1b |
A |
T |
9: 66,697,878 (GRCm39) |
|
probably null |
Het |
| B4galnt3 |
C |
A |
6: 120,184,167 (GRCm39) |
R880L |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,503,247 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,858,878 (GRCm39) |
I14N |
possibly damaging |
Het |
| Dcdc5 |
T |
C |
2: 106,198,451 (GRCm39) |
|
noncoding transcript |
Het |
| Dll1 |
A |
T |
17: 15,590,501 (GRCm39) |
M405K |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,775,810 (GRCm39) |
D428G |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,727,987 (GRCm39) |
M98K |
unknown |
Het |
| Foxd2 |
G |
T |
4: 114,764,768 (GRCm39) |
H417Q |
possibly damaging |
Het |
| Glrb |
T |
C |
3: 80,758,349 (GRCm39) |
N304D |
possibly damaging |
Het |
| Haus3 |
A |
G |
5: 34,324,972 (GRCm39) |
V229A |
probably benign |
Het |
| Hpgd |
A |
T |
8: 56,770,838 (GRCm39) |
I159F |
possibly damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,710,036 (GRCm39) |
I70F |
probably benign |
Het |
| Il16 |
A |
T |
7: 83,310,153 (GRCm39) |
F584L |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,030,141 (GRCm39) |
D167G |
probably null |
Het |
| Megf10 |
G |
A |
18: 57,426,930 (GRCm39) |
V1083I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,592,079 (GRCm39) |
S268P |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,310,500 (GRCm39) |
D132G |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,371,756 (GRCm39) |
N419D |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,565,082 (GRCm39) |
L56S |
probably damaging |
Het |
| Nup214 |
A |
G |
2: 31,870,596 (GRCm39) |
|
probably null |
Het |
| Opn5 |
C |
G |
17: 42,891,610 (GRCm39) |
A276P |
probably damaging |
Het |
| Or10j5 |
A |
G |
1: 172,785,166 (GRCm39) |
E268G |
probably benign |
Het |
| Or2d3 |
C |
T |
7: 106,490,642 (GRCm39) |
V225I |
probably benign |
Het |
| Or5t9 |
T |
A |
2: 86,659,598 (GRCm39) |
H167Q |
probably damaging |
Het |
| Papln |
G |
T |
12: 83,823,917 (GRCm39) |
V499L |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,569,296 (GRCm39) |
W357R |
probably damaging |
Het |
| Pibf1 |
T |
C |
14: 99,377,992 (GRCm39) |
Y373H |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,162,252 (GRCm39) |
|
probably null |
Het |
| Prcd |
T |
A |
11: 116,550,597 (GRCm39) |
W3R |
probably null |
Het |
| Reg3b |
T |
A |
6: 78,349,809 (GRCm39) |
N116K |
possibly damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,865,360 (GRCm39) |
L19P |
probably benign |
Het |
| Rufy1 |
T |
C |
11: 50,297,277 (GRCm39) |
T392A |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,017,188 (GRCm39) |
K247E |
probably benign |
Het |
| Shank1 |
C |
T |
7: 43,965,497 (GRCm39) |
T191M |
unknown |
Het |
| Slit1 |
C |
T |
19: 41,717,493 (GRCm39) |
|
probably null |
Het |
| Sorl1 |
A |
T |
9: 41,975,048 (GRCm39) |
V520E |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,825 (GRCm39) |
F766Y |
probably damaging |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,608 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp644 |
A |
G |
5: 106,783,279 (GRCm39) |
S1032P |
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 |
|
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 |
|
R5563:Prkaa1
|
UTSW |
15 |
5,199,437 (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'- TTGAAGAGTGTTGACCGATGC -3'
(R):5'- CTGGTATCTAGAGACTCGAAAAGGTAG -3'
Sequencing Primer
(F):5'- AAGAGTGTTGACCGATGCTTTTTG -3'
(R):5'- TGCTGTGCAATGGTAATACCACG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation