Incidental Mutation 'R4398:Prkaa1'
ID |
325602 |
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 |
041130-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4398 (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 5206642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 464
(Q464R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051186]
[ENSMUST00000228218]
|
AlphaFold |
Q5EG47 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051186
AA Change: Q464R
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000063166 Gene: ENSMUSG00000050697 AA Change: Q464R
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: Q455R
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
Meta Mutation Damage Score |
0.1975 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
96% (53/55) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
C |
A |
15: 94,231,576 (GRCm39) |
R871L |
possibly damaging |
Het |
Adcy5 |
G |
A |
16: 35,089,363 (GRCm39) |
C520Y |
probably damaging |
Het |
AI661453 |
G |
A |
17: 47,779,042 (GRCm39) |
|
probably benign |
Het |
Bptf |
T |
C |
11: 107,001,670 (GRCm39) |
K481E |
probably damaging |
Het |
Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
Ctc1 |
C |
T |
11: 68,913,697 (GRCm39) |
P200S |
probably damaging |
Het |
Dact1 |
T |
C |
12: 71,363,959 (GRCm39) |
Y210H |
probably damaging |
Het |
Dbn1 |
T |
C |
13: 55,623,194 (GRCm39) |
T430A |
probably benign |
Het |
Dmd |
A |
C |
X: 82,765,624 (GRCm39) |
T657P |
probably benign |
Het |
Efnb2 |
C |
T |
8: 8,670,832 (GRCm39) |
R256H |
possibly damaging |
Het |
Eif4a1 |
T |
C |
11: 69,560,070 (GRCm39) |
I116M |
possibly damaging |
Het |
F730035P03Rik |
A |
T |
7: 99,429,475 (GRCm39) |
|
noncoding transcript |
Het |
Fbn1 |
C |
T |
2: 125,239,701 (GRCm39) |
V329I |
probably benign |
Het |
Gpr20 |
G |
A |
15: 73,568,125 (GRCm39) |
T88I |
probably benign |
Het |
Herc1 |
T |
G |
9: 66,386,735 (GRCm39) |
V3783G |
probably benign |
Het |
Khdc1a |
A |
G |
1: 21,420,617 (GRCm39) |
D79G |
possibly damaging |
Het |
Klk1b16 |
A |
T |
7: 43,790,851 (GRCm39) |
I218F |
probably damaging |
Het |
Malrd1 |
C |
T |
2: 16,155,594 (GRCm39) |
T2001I |
unknown |
Het |
Mia3 |
A |
G |
1: 183,111,733 (GRCm39) |
S556P |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,467,854 (GRCm39) |
D369E |
probably benign |
Het |
Nelfa |
T |
C |
5: 34,058,623 (GRCm39) |
D279G |
possibly damaging |
Het |
Ntrk3 |
A |
T |
7: 77,900,517 (GRCm39) |
C607* |
probably null |
Het |
Or13a20 |
T |
C |
7: 140,232,741 (GRCm39) |
V283A |
possibly damaging |
Het |
Pclo |
A |
T |
5: 14,825,380 (GRCm39) |
Q1371L |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,376,061 (GRCm39) |
V1358E |
probably benign |
Het |
Pgr |
T |
C |
9: 8,903,750 (GRCm39) |
|
probably null |
Het |
Prag1 |
A |
G |
8: 36,570,809 (GRCm39) |
D464G |
probably damaging |
Het |
Prickle4 |
A |
G |
17: 48,001,456 (GRCm39) |
|
probably benign |
Het |
Prim2 |
A |
G |
1: 33,551,192 (GRCm39) |
Y309H |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rint1 |
T |
A |
5: 23,999,445 (GRCm39) |
I78K |
possibly damaging |
Het |
Rnf130 |
T |
A |
11: 49,962,205 (GRCm39) |
F217Y |
probably benign |
Het |
Smad7 |
T |
C |
18: 75,527,234 (GRCm39) |
V360A |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,838,659 (GRCm39) |
|
probably benign |
Het |
Tlr12 |
T |
A |
4: 128,509,988 (GRCm39) |
D754V |
probably benign |
Het |
Tmf1 |
G |
A |
6: 97,155,857 (GRCm39) |
P43L |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,027,630 (GRCm39) |
N873S |
probably benign |
Het |
Tsn |
C |
T |
1: 118,238,799 (GRCm39) |
|
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,882,289 (GRCm39) |
K250R |
probably damaging |
Het |
Vmn1r25 |
A |
T |
6: 57,955,812 (GRCm39) |
V159D |
probably damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,689,551 (GRCm39) |
L18P |
probably damaging |
Het |
Vps8 |
T |
G |
16: 21,323,216 (GRCm39) |
N689K |
probably damaging |
Het |
Ythdc1 |
T |
A |
5: 86,963,513 (GRCm39) |
D30E |
possibly damaging |
Het |
Ythdc1 |
G |
T |
5: 86,983,679 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,580,856 (GRCm39) |
Q86* |
probably null |
Het |
Zfp521 |
C |
T |
18: 13,979,601 (GRCm39) |
E271K |
probably benign |
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 |
|
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 |
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'- AGAGCAATCAAGCAGTTGGATTATG -3'
(R):5'- GGCGCCATATGAAGCTTACTAC -3'
Sequencing Primer
(F):5'- TAAGAAGGCAAGTGCTCTCTCTG -3'
(R):5'- GCGCCATATGAAGCTTACTACTTTGC -3'
|
Posted On |
2015-07-06 |