Incidental Mutation 'R5159:Prkag3'
| ID |
396858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkag3
|
| Ensembl Gene |
ENSMUSG00000006542 |
| Gene Name |
protein kinase, AMP-activated, gamma 3 non-catalytic subunit |
| Synonyms |
AMPKg3, AMPKg3S, AMPKg3L |
| MMRRC Submission |
042741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R5159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74778081-74788380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74780646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 396
(Y396N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027356]
[ENSMUST00000081636]
[ENSMUST00000113672]
[ENSMUST00000160732]
[ENSMUST00000162093]
[ENSMUST00000188073]
|
| AlphaFold |
Q8BGM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027356
|
| SMART Domains |
Protein: ENSMUSP00000027356
Gene: ENSMUSG00000026170
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
63 |
529 |
5.1e-107 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081636
AA Change: Y396N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542
AA Change: Y396N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
CBS
|
202 |
251 |
2.66e-6 |
SMART |
|
CBS
|
283 |
332 |
7.57e-11 |
SMART |
|
CBS
|
358 |
406 |
8.69e-11 |
SMART |
|
CBS
|
430 |
478 |
3.73e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113672
AA Change: Y371N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542
AA Change: Y371N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
CBS
|
177 |
226 |
2.66e-6 |
SMART |
|
CBS
|
258 |
307 |
7.57e-11 |
SMART |
|
CBS
|
333 |
381 |
8.69e-11 |
SMART |
|
CBS
|
405 |
453 |
3.73e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160732
AA Change: Y396N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542
AA Change: Y396N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
CBS
|
202 |
251 |
2.66e-6 |
SMART |
|
CBS
|
283 |
332 |
7.57e-11 |
SMART |
|
CBS
|
358 |
406 |
8.69e-11 |
SMART |
|
CBS
|
430 |
478 |
3.73e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162093
|
| SMART Domains |
Protein: ENSMUSP00000125242
Gene: ENSMUSG00000006542
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
CBS
|
202 |
251 |
2.66e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188073
AA Change: Y396N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542
AA Change: Y396N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
CBS
|
202 |
251 |
2.66e-6 |
SMART |
|
CBS
|
283 |
332 |
7.57e-11 |
SMART |
|
CBS
|
358 |
406 |
8.69e-11 |
SMART |
|
CBS
|
430 |
478 |
3.73e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190781
|
| Meta Mutation Damage Score |
0.9226 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (63/63) |
| 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 regulatory 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. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired glycogen synthesis after exercise. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,352 (GRCm39) |
T412A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,097,776 (GRCm39) |
M420L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,884,711 (GRCm39) |
S77P |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,856,317 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
A |
G |
17: 28,100,530 (GRCm39) |
H323R |
probably damaging |
Het |
| Bmp5 |
T |
A |
9: 75,801,035 (GRCm39) |
F388L |
probably damaging |
Het |
| Brca2 |
T |
G |
5: 150,465,573 (GRCm39) |
V1779G |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,932,483 (GRCm39) |
S147T |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,519,233 (GRCm39) |
E409G |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,632,886 (GRCm39) |
R29W |
probably damaging |
Het |
| Clic6 |
T |
A |
16: 92,324,954 (GRCm39) |
Y371N |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,425,991 (GRCm39) |
|
probably null |
Het |
| Coro1a |
A |
T |
7: 126,302,221 (GRCm39) |
V42D |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Crb1 |
A |
C |
1: 139,170,756 (GRCm39) |
V817G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,549,378 (GRCm39) |
T299A |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,029,738 (GRCm39) |
R1019C |
probably benign |
Het |
| Exoc8 |
T |
C |
8: 125,622,952 (GRCm39) |
T472A |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,469,679 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,852,733 (GRCm39) |
M1340K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,604,064 (GRCm39) |
L244P |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,831 (GRCm39) |
N424S |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,875 (GRCm39) |
D261G |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,720,192 (GRCm39) |
I272L |
probably benign |
Het |
| Lpcat3 |
A |
G |
6: 124,676,357 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,236 (GRCm39) |
D304G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,774,008 (GRCm39) |
I5540V |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,970,563 (GRCm39) |
S231G |
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,221,062 (GRCm39) |
T101M |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,179,179 (GRCm39) |
I524T |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,589,189 (GRCm39) |
C1679R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,416 (GRCm39) |
S456P |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,719 (GRCm39) |
N389S |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,617,507 (GRCm39) |
S620R |
probably benign |
Het |
| Plod3 |
T |
A |
5: 137,023,932 (GRCm39) |
|
probably benign |
Het |
| Por |
A |
T |
5: 135,759,771 (GRCm39) |
Q194L |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,935,053 (GRCm39) |
|
probably null |
Het |
| Rcan3 |
C |
T |
4: 135,152,592 (GRCm39) |
S43N |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,098 (GRCm39) |
T31A |
probably damaging |
Het |
| Rnps1 |
T |
G |
17: 24,637,486 (GRCm39) |
S43A |
unknown |
Het |
| Rp1 |
T |
C |
1: 4,416,426 (GRCm39) |
D1562G |
possibly damaging |
Het |
| Rps19-ps13 |
A |
G |
18: 40,859,428 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina3c |
A |
T |
12: 104,115,771 (GRCm39) |
S258T |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,460,181 (GRCm39) |
R519Q |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,885 (GRCm39) |
T955A |
probably benign |
Het |
| Stfa3 |
T |
C |
16: 36,272,581 (GRCm39) |
K40E |
probably damaging |
Het |
| Tmem87b |
A |
G |
2: 128,666,378 (GRCm39) |
E75G |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,298 (GRCm39) |
Q595R |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trat1 |
T |
C |
16: 48,555,300 (GRCm39) |
D144G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,358 (GRCm39) |
V15A |
probably benign |
Het |
| Tulp1 |
A |
C |
17: 28,578,034 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
T |
A |
13: 55,865,734 (GRCm39) |
M66K |
probably benign |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,775 (GRCm39) |
N144I |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,353,796 (GRCm39) |
T113A |
probably benign |
Het |
| Xpo5 |
A |
C |
17: 46,528,535 (GRCm39) |
E313D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
|
| Other mutations in Prkag3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02085:Prkag3
|
APN |
1 |
74,787,971 (GRCm39) |
splice site |
probably benign |
|
|
IGL02139:Prkag3
|
APN |
1 |
74,779,883 (GRCm39) |
missense |
probably benign |
0.14 |
|
P0023:Prkag3
|
UTSW |
1 |
74,779,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0002:Prkag3
|
UTSW |
1 |
74,783,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0002:Prkag3
|
UTSW |
1 |
74,783,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0256:Prkag3
|
UTSW |
1 |
74,780,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0547:Prkag3
|
UTSW |
1 |
74,783,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1314:Prkag3
|
UTSW |
1 |
74,786,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Prkag3
|
UTSW |
1 |
74,779,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2842:Prkag3
|
UTSW |
1 |
74,780,334 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4739:Prkag3
|
UTSW |
1 |
74,779,864 (GRCm39) |
makesense |
probably null |
|
|
R5876:Prkag3
|
UTSW |
1 |
74,787,975 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5989:Prkag3
|
UTSW |
1 |
74,780,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7444:Prkag3
|
UTSW |
1 |
74,786,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7553:Prkag3
|
UTSW |
1 |
74,783,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7630:Prkag3
|
UTSW |
1 |
74,783,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Prkag3
|
UTSW |
1 |
74,780,416 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7974:Prkag3
|
UTSW |
1 |
74,783,980 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7994:Prkag3
|
UTSW |
1 |
74,786,414 (GRCm39) |
missense |
probably benign |
|
|
R8084:Prkag3
|
UTSW |
1 |
74,786,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Prkag3
|
UTSW |
1 |
74,787,118 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8387:Prkag3
|
UTSW |
1 |
74,784,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9015:Prkag3
|
UTSW |
1 |
74,780,353 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9489:Prkag3
|
UTSW |
1 |
74,786,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Prkag3
|
UTSW |
1 |
74,787,082 (GRCm39) |
missense |
|
|
|
R9605:Prkag3
|
UTSW |
1 |
74,786,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prkag3
|
UTSW |
1 |
74,787,184 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCACACTCATGTCTAGGTGG -3'
(R):5'- CTGAAGTCAGGCATCTTAATGATG -3'
Sequencing Primer
(F):5'- CCACACTCATGTCTAGGTGGTTGTAG -3'
(R):5'- ATGATGCTAAATCTATCTGATGCCCC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation