Incidental Mutation 'R1615:Prkag2'
ID |
177039 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkag2
|
Ensembl Gene |
ENSMUSG00000028944 |
Gene Name |
protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
Synonyms |
2410051C13Rik |
MMRRC Submission |
039652-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1615 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
25067742-25305640 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 25080176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 120
(N120K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110626
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030784]
[ENSMUST00000076306]
[ENSMUST00000114975]
[ENSMUST00000131486]
[ENSMUST00000150135]
|
AlphaFold |
Q91WG5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030784
AA Change: N360K
PolyPhen 2
Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000030784 Gene: ENSMUSG00000028944 AA Change: N360K
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
29 |
N/A |
INTRINSIC |
low complexity region
|
81 |
95 |
N/A |
INTRINSIC |
low complexity region
|
113 |
122 |
N/A |
INTRINSIC |
low complexity region
|
129 |
144 |
N/A |
INTRINSIC |
low complexity region
|
151 |
172 |
N/A |
INTRINSIC |
low complexity region
|
228 |
243 |
N/A |
INTRINSIC |
CBS
|
276 |
325 |
7.01e-6 |
SMART |
CBS
|
357 |
406 |
4.28e-10 |
SMART |
CBS
|
432 |
480 |
8.11e-11 |
SMART |
CBS
|
504 |
552 |
3.62e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076306
AA Change: N237K
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000075651 Gene: ENSMUSG00000028944 AA Change: N237K
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
46 |
N/A |
INTRINSIC |
low complexity region
|
104 |
119 |
N/A |
INTRINSIC |
CBS
|
153 |
202 |
7.01e-6 |
SMART |
CBS
|
234 |
283 |
4.28e-10 |
SMART |
CBS
|
309 |
357 |
8.11e-11 |
SMART |
CBS
|
381 |
429 |
3.62e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114975
AA Change: N120K
PolyPhen 2
Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110626 Gene: ENSMUSG00000028944 AA Change: N120K
Domain | Start | End | E-Value | Type |
CBS
|
36 |
85 |
7.01e-6 |
SMART |
CBS
|
117 |
166 |
4.28e-10 |
SMART |
CBS
|
192 |
240 |
8.11e-11 |
SMART |
CBS
|
264 |
312 |
3.62e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123610
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131486
AA Change: N102K
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000115760 Gene: ENSMUSG00000028944 AA Change: N102K
Domain | Start | End | E-Value | Type |
CBS
|
18 |
67 |
7.01e-6 |
SMART |
CBS
|
99 |
148 |
4.28e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150135
AA Change: N121K
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114978 Gene: ENSMUSG00000028944 AA Change: N121K
Domain | Start | End | E-Value | Type |
CBS
|
37 |
86 |
7.01e-6 |
SMART |
CBS
|
118 |
167 |
4.28e-10 |
SMART |
CBS
|
193 |
241 |
8.11e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139698
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135525
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
Validation Efficiency |
98% (64/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015] PHENOTYPE: Homozygous constitutively active mutants develop age related obesity caused by polyphagia, glucose intolerance and insulin resistance and exhibit slowing of heart rate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
A |
T |
15: 64,743,625 (GRCm39) |
C328S |
probably benign |
Het |
Adgrv1 |
G |
T |
13: 81,572,407 (GRCm39) |
T4918K |
probably benign |
Het |
Aen |
T |
C |
7: 78,555,660 (GRCm39) |
Y108H |
probably damaging |
Het |
Amer3 |
T |
C |
1: 34,627,252 (GRCm39) |
M497T |
probably damaging |
Het |
Arid2 |
C |
T |
15: 96,269,535 (GRCm39) |
T1216M |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,916,404 (GRCm39) |
|
probably null |
Het |
Bzw2 |
A |
G |
12: 36,169,126 (GRCm39) |
|
probably benign |
Het |
Ccr1 |
T |
C |
9: 123,763,573 (GRCm39) |
H319R |
probably benign |
Het |
Dnah11 |
A |
G |
12: 118,014,457 (GRCm39) |
I2010T |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,352,413 (GRCm39) |
Y2522C |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,362,913 (GRCm39) |
I3825K |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,238,452 (GRCm39) |
D3718V |
probably damaging |
Het |
Esp36 |
A |
G |
17: 38,730,330 (GRCm39) |
|
probably benign |
Het |
Fbxw21 |
T |
C |
9: 108,972,794 (GRCm39) |
Y380C |
probably damaging |
Het |
Fhad1 |
G |
A |
4: 141,649,634 (GRCm39) |
T836M |
probably damaging |
Het |
Fhod1 |
C |
T |
8: 106,074,463 (GRCm39) |
|
probably benign |
Het |
Flt1 |
A |
G |
5: 147,576,098 (GRCm39) |
C637R |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 53,008,436 (GRCm39) |
K809E |
probably damaging |
Het |
Grm1 |
G |
T |
10: 10,617,252 (GRCm39) |
Y510* |
probably null |
Het |
Hey1 |
A |
T |
3: 8,729,898 (GRCm39) |
H186Q |
possibly damaging |
Het |
Insyn1 |
C |
T |
9: 58,406,351 (GRCm39) |
A87V |
probably damaging |
Het |
Itga2b |
C |
T |
11: 102,350,963 (GRCm39) |
|
probably null |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,250,911 (GRCm39) |
D7G |
probably benign |
Het |
Lrrc1 |
T |
C |
9: 77,342,400 (GRCm39) |
D358G |
possibly damaging |
Het |
Lyn |
A |
G |
4: 3,748,765 (GRCm39) |
K248E |
probably benign |
Het |
Map4k4 |
A |
G |
1: 40,045,990 (GRCm39) |
|
probably benign |
Het |
Map4k5 |
A |
T |
12: 69,891,187 (GRCm39) |
L160H |
probably damaging |
Het |
Mtcl2 |
T |
G |
2: 156,862,663 (GRCm39) |
H1422P |
probably damaging |
Het |
Myo6 |
C |
T |
9: 80,215,007 (GRCm39) |
R1247C |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,695,739 (GRCm39) |
E347G |
possibly damaging |
Het |
Ndfip1 |
C |
T |
18: 38,593,672 (GRCm39) |
P213S |
probably benign |
Het |
Neurl3 |
T |
C |
1: 36,308,470 (GRCm39) |
E114G |
possibly damaging |
Het |
Nlrp14 |
A |
T |
7: 106,795,370 (GRCm39) |
I877F |
probably benign |
Het |
Obscn |
A |
G |
11: 58,990,651 (GRCm39) |
S1733P |
probably benign |
Het |
Oxgr1 |
A |
T |
14: 120,260,185 (GRCm39) |
S7R |
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,204,364 (GRCm39) |
|
probably benign |
Het |
Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
Saraf |
A |
G |
8: 34,632,442 (GRCm39) |
K174E |
possibly damaging |
Het |
Scrib |
T |
C |
15: 75,938,054 (GRCm39) |
Q264R |
probably benign |
Het |
Sh3rf3 |
T |
A |
10: 58,966,899 (GRCm39) |
M747K |
probably benign |
Het |
Shf |
T |
C |
2: 122,179,913 (GRCm39) |
H421R |
probably damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,368 (GRCm39) |
S228P |
probably damaging |
Het |
Slit1 |
A |
G |
19: 41,639,110 (GRCm39) |
|
probably benign |
Het |
Srrm4 |
A |
G |
5: 116,585,359 (GRCm39) |
|
probably benign |
Het |
Stfa1 |
T |
G |
16: 36,100,829 (GRCm39) |
V23G |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,872,498 (GRCm39) |
D371G |
probably benign |
Het |
Tada2a |
T |
C |
11: 83,993,926 (GRCm39) |
D186G |
probably damaging |
Het |
Tdpoz3 |
C |
A |
3: 93,733,618 (GRCm39) |
Q98K |
probably benign |
Het |
Tgfbrap1 |
A |
G |
1: 43,091,145 (GRCm39) |
V660A |
probably benign |
Het |
Tnn |
A |
G |
1: 159,945,978 (GRCm39) |
Y947H |
possibly damaging |
Het |
Trim60 |
A |
T |
8: 65,453,162 (GRCm39) |
C362* |
probably null |
Het |
Vmn1r81 |
T |
A |
7: 11,994,441 (GRCm39) |
N56Y |
probably damaging |
Het |
Vsig8 |
A |
G |
1: 172,387,280 (GRCm39) |
D52G |
probably damaging |
Het |
Wdfy4 |
G |
A |
14: 32,764,469 (GRCm39) |
R2140C |
probably damaging |
Het |
|
Other mutations in Prkag2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01292:Prkag2
|
APN |
5 |
25,226,963 (GRCm39) |
missense |
probably benign |
0.01 |
R0437:Prkag2
|
UTSW |
5 |
25,233,503 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0622:Prkag2
|
UTSW |
5 |
25,074,247 (GRCm39) |
missense |
probably damaging |
0.98 |
R0755:Prkag2
|
UTSW |
5 |
25,152,629 (GRCm39) |
missense |
probably benign |
0.25 |
R1400:Prkag2
|
UTSW |
5 |
25,078,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R1561:Prkag2
|
UTSW |
5 |
25,076,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R1569:Prkag2
|
UTSW |
5 |
25,152,475 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1612:Prkag2
|
UTSW |
5 |
25,082,026 (GRCm39) |
missense |
probably benign |
0.06 |
R1700:Prkag2
|
UTSW |
5 |
25,076,539 (GRCm39) |
missense |
probably damaging |
0.97 |
R2011:Prkag2
|
UTSW |
5 |
25,076,052 (GRCm39) |
critical splice donor site |
probably null |
|
R2045:Prkag2
|
UTSW |
5 |
25,152,580 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2230:Prkag2
|
UTSW |
5 |
25,113,362 (GRCm39) |
missense |
probably benign |
0.10 |
R2863:Prkag2
|
UTSW |
5 |
25,226,790 (GRCm39) |
missense |
probably benign |
0.39 |
R3104:Prkag2
|
UTSW |
5 |
25,076,067 (GRCm39) |
nonsense |
probably null |
|
R4193:Prkag2
|
UTSW |
5 |
25,083,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R4520:Prkag2
|
UTSW |
5 |
25,071,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R4604:Prkag2
|
UTSW |
5 |
25,083,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R5736:Prkag2
|
UTSW |
5 |
25,083,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Prkag2
|
UTSW |
5 |
25,152,534 (GRCm39) |
missense |
probably damaging |
0.96 |
R6414:Prkag2
|
UTSW |
5 |
25,305,178 (GRCm39) |
start gained |
probably benign |
|
R6510:Prkag2
|
UTSW |
5 |
25,305,286 (GRCm39) |
start gained |
probably benign |
|
R6511:Prkag2
|
UTSW |
5 |
25,305,286 (GRCm39) |
start gained |
probably benign |
|
R7035:Prkag2
|
UTSW |
5 |
25,152,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R7084:Prkag2
|
UTSW |
5 |
25,226,967 (GRCm39) |
missense |
probably benign |
|
R7211:Prkag2
|
UTSW |
5 |
25,200,296 (GRCm39) |
missense |
probably benign |
0.00 |
R7353:Prkag2
|
UTSW |
5 |
25,085,684 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8204:Prkag2
|
UTSW |
5 |
25,074,125 (GRCm39) |
splice site |
probably null |
|
R8354:Prkag2
|
UTSW |
5 |
25,074,137 (GRCm39) |
nonsense |
probably null |
|
R8401:Prkag2
|
UTSW |
5 |
25,068,868 (GRCm39) |
missense |
probably benign |
|
R8560:Prkag2
|
UTSW |
5 |
25,071,063 (GRCm39) |
critical splice donor site |
probably benign |
|
R8747:Prkag2
|
UTSW |
5 |
25,085,680 (GRCm39) |
critical splice donor site |
probably null |
|
R9634:Prkag2
|
UTSW |
5 |
25,074,238 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTACTGATGCTGCCACAGGTGAG -3'
(R):5'- TGACTGCAAACAGTCGTTTGGGG -3'
Sequencing Primer
(F):5'- gcaatcctcttatgtcagccttc -3'
(R):5'- CGTTATTTCCTGTCGGCTGA -3'
|
Posted On |
2014-04-24 |