Incidental Mutation 'R3104:Prkag2'
ID |
262948 |
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 |
040578-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3104 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
25067742-25305640 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 25076067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 233
(K233*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030784]
[ENSMUST00000076306]
[ENSMUST00000114975]
[ENSMUST00000131486]
[ENSMUST00000150135]
|
AlphaFold |
Q91WG5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030784
AA Change: K472*
|
SMART Domains |
Protein: ENSMUSP00000030784 Gene: ENSMUSG00000028944 AA Change: K472*
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 null
Transcript: ENSMUST00000076306
AA Change: K349*
|
SMART Domains |
Protein: ENSMUSP00000075651 Gene: ENSMUSG00000028944 AA Change: K349*
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 |
probably null
Transcript: ENSMUST00000114975
AA Change: K232*
|
SMART Domains |
Protein: ENSMUSP00000110626 Gene: ENSMUSG00000028944 AA Change: K232*
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
|
SMART Domains |
Protein: ENSMUSP00000115760 Gene: ENSMUSG00000028944
Domain | Start | End | E-Value | Type |
CBS
|
18 |
67 |
7.01e-6 |
SMART |
CBS
|
99 |
148 |
4.28e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135525
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150135
AA Change: K233*
|
SMART Domains |
Protein: ENSMUSP00000114978 Gene: ENSMUSG00000028944 AA Change: K233*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ash1l |
T |
A |
3: 88,961,693 (GRCm39) |
V2355E |
probably damaging |
Het |
Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
Bmp4 |
G |
A |
14: 46,623,438 (GRCm39) |
A36V |
probably benign |
Het |
Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
Cdh9 |
T |
C |
15: 16,855,900 (GRCm39) |
S647P |
probably damaging |
Het |
Cntln |
C |
T |
4: 84,875,406 (GRCm39) |
T280M |
possibly damaging |
Het |
Coch |
A |
G |
12: 51,650,204 (GRCm39) |
T398A |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 17,077,247 (GRCm39) |
Y137H |
probably damaging |
Het |
Ctnnal1 |
G |
A |
4: 56,813,246 (GRCm39) |
L662F |
probably benign |
Het |
Cyp19a1 |
T |
C |
9: 54,094,083 (GRCm39) |
I60V |
probably benign |
Het |
Cyp2c68 |
C |
T |
19: 39,722,757 (GRCm39) |
V264I |
probably benign |
Het |
Dbx1 |
A |
T |
7: 49,286,417 (GRCm39) |
L16H |
probably damaging |
Het |
Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
Dnah7c |
T |
A |
1: 46,837,439 (GRCm39) |
Y3951N |
probably damaging |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Fam124b |
T |
A |
1: 80,190,748 (GRCm39) |
I212F |
probably damaging |
Het |
Fam187b |
A |
G |
7: 30,676,665 (GRCm39) |
D58G |
probably benign |
Het |
Galnt4 |
T |
C |
10: 98,945,243 (GRCm39) |
Y323H |
probably benign |
Het |
Gfpt1 |
A |
G |
6: 87,034,628 (GRCm39) |
D142G |
probably benign |
Het |
Gm5174 |
A |
G |
10: 86,492,519 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2ird2 |
G |
A |
5: 134,237,756 (GRCm39) |
D278N |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,785,103 (GRCm39) |
D1480E |
probably benign |
Het |
Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,214,335 (GRCm39) |
|
probably null |
Het |
Lgr6 |
A |
G |
1: 134,928,210 (GRCm39) |
|
probably null |
Het |
Lmod2 |
A |
C |
6: 24,604,471 (GRCm39) |
K482T |
probably damaging |
Het |
Magi3 |
A |
G |
3: 103,958,636 (GRCm39) |
V483A |
probably damaging |
Het |
Ncam2 |
A |
G |
16: 81,262,598 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
C |
A |
7: 30,166,965 (GRCm39) |
S724* |
probably null |
Het |
Or5t9 |
T |
C |
2: 86,660,035 (GRCm39) |
M313T |
probably benign |
Het |
Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
Pcdhgc5 |
A |
G |
18: 37,954,727 (GRCm39) |
E667G |
possibly damaging |
Het |
Plce1 |
C |
T |
19: 38,608,963 (GRCm39) |
P424L |
probably benign |
Het |
Plekhg5 |
C |
T |
4: 152,196,635 (GRCm39) |
T694M |
probably damaging |
Het |
Prune2 |
T |
A |
19: 17,096,520 (GRCm39) |
S675T |
probably damaging |
Het |
Sars1 |
C |
T |
3: 108,336,621 (GRCm39) |
R302H |
probably damaging |
Het |
Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
Sparcl1 |
T |
C |
5: 104,241,203 (GRCm39) |
T74A |
probably benign |
Het |
Sppl2b |
A |
G |
10: 80,703,325 (GRCm39) |
E529G |
probably benign |
Het |
Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,765,035 (GRCm39) |
N8D |
probably damaging |
Het |
Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,662,450 (GRCm39) |
V1768I |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
Usp29 |
T |
A |
7: 6,965,052 (GRCm39) |
C298* |
probably null |
Het |
Usp8 |
T |
C |
2: 126,600,432 (GRCm39) |
V1050A |
probably damaging |
Het |
Vmn1r38 |
T |
C |
6: 66,753,430 (GRCm39) |
T229A |
probably benign |
Het |
Yes1 |
T |
C |
5: 32,810,515 (GRCm39) |
S195P |
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 |
R1615:Prkag2
|
UTSW |
5 |
25,080,176 (GRCm39) |
missense |
possibly damaging |
0.56 |
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 |
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'- GATATAGCTCCCCTGAGAGGAG -3'
(R):5'- GCCCGTTTGTTTTACTGAACAC -3'
Sequencing Primer
(F):5'- CCCTGAGAGGAGACTGAAATTCTC -3'
(R):5'- CCACAGTAGTTACCTAGTTAAGACTG -3'
|
Posted On |
2015-02-05 |