Incidental Mutation 'R5301:Prkar2b'
| ID |
404262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkar2b
|
| Ensembl Gene |
ENSMUSG00000002997 |
| Gene Name |
protein kinase, cAMP dependent regulatory, type II beta |
| Synonyms |
RII(beta), Pkarb2, PKARIIbeta |
| MMRRC Submission |
042884-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R5301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
32008475-32111295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32025927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 31
(V31G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003079]
[ENSMUST00000036497]
[ENSMUST00000146865]
|
| AlphaFold |
P31324 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003079
AA Change: V191G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003079
Gene: ENSMUSG00000002997
AA Change: V191G
| Domain | Start | End | E-Value | Type |
|---|
|
RIIa
|
7 |
44 |
7.78e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
101 |
N/A |
INTRINSIC |
|
cNMP
|
152 |
272 |
7.2e-26 |
SMART |
|
cNMP
|
274 |
398 |
8.53e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036497
AA Change: V191G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039797
Gene: ENSMUSG00000002997
AA Change: V191G
| Domain | Start | End | E-Value | Type |
|---|
|
RIIa
|
7 |
44 |
7.78e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
101 |
N/A |
INTRINSIC |
|
cNMP
|
152 |
272 |
7.2e-26 |
SMART |
|
cNMP
|
274 |
398 |
8.53e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146865
AA Change: V31G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135290
Gene: ENSMUSG00000002997
AA Change: V31G
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
1 |
112 |
1.33e-15 |
SMART |
|
cNMP
|
114 |
238 |
8.53e-28 |
SMART |
|
| Meta Mutation Damage Score |
0.8321 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (52/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygou null mice are lean, weigh less than controls, and have reduced white fat pad size. Mice are resistant to both diet-induced obesity and to diet-induced insulin resistance. Mice show impaired coordination and increased sensitivity to chronic amphetamine exposure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,896,502 (GRCm39) |
V578A |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,117,191 (GRCm39) |
I486V |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,536,207 (GRCm39) |
T1509I |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,573,279 (GRCm39) |
D12V |
probably damaging |
Het |
| Asb1 |
A |
G |
1: 91,482,475 (GRCm39) |
Y66C |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Bcl10 |
A |
G |
3: 145,636,342 (GRCm39) |
D80G |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,553,884 (GRCm39) |
V46A |
probably benign |
Het |
| Cyp11a1 |
A |
G |
9: 57,926,544 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,725,326 (GRCm39) |
S292P |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,071,952 (GRCm39) |
I85M |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,625,973 (GRCm39) |
D49G |
probably benign |
Het |
| Epcam |
T |
A |
17: 87,944,305 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,550 (GRCm39) |
V589A |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,793,099 (GRCm39) |
K1034N |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,805,125 (GRCm39) |
L1256F |
possibly damaging |
Het |
| Gata5 |
T |
C |
2: 179,975,786 (GRCm39) |
Y126C |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,475 (GRCm39) |
L278P |
probably damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,847 (GRCm39) |
R91L |
unknown |
Het |
| Gm29125 |
A |
T |
1: 80,362,154 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
G |
T |
4: 130,031,463 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
G |
A |
1: 173,556,977 (GRCm39) |
S587L |
possibly damaging |
Het |
| Ino80d |
T |
C |
1: 63,113,578 (GRCm39) |
T291A |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,524,480 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
G |
1: 178,358,233 (GRCm39) |
S115G |
unknown |
Het |
| Klc3 |
T |
C |
7: 19,130,274 (GRCm39) |
Y301C |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,570,871 (GRCm39) |
R867S |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mthfd2 |
C |
A |
6: 83,287,465 (GRCm39) |
G200V |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,367,541 (GRCm39) |
I312T |
probably damaging |
Het |
| Nrp1 |
T |
G |
8: 129,160,678 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 59,026,234 (GRCm39) |
L323P |
probably damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,030 (GRCm39) |
S10P |
probably benign |
Het |
| Or1b1 |
C |
T |
2: 36,995,210 (GRCm39) |
V151M |
probably benign |
Het |
| Or9i14 |
G |
A |
19: 13,792,933 (GRCm39) |
T7I |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,544,967 (GRCm39) |
|
probably null |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,237 (GRCm39) |
R371G |
probably benign |
Het |
| Reg3b |
T |
A |
6: 78,348,243 (GRCm39) |
M19K |
probably damaging |
Het |
| Sec14l2 |
G |
A |
11: 4,068,727 (GRCm39) |
|
probably benign |
Het |
| Sgca |
C |
T |
11: 94,854,157 (GRCm39) |
R104Q |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,308,519 (GRCm39) |
Y281C |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,196,734 (GRCm39) |
V637A |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,002,963 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
C |
17: 6,346,070 (GRCm39) |
I229T |
possibly damaging |
Het |
| Tmpo |
A |
T |
10: 90,985,650 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,555,384 (GRCm39) |
V280A |
probably benign |
Het |
| Vmn1r234 |
G |
T |
17: 21,449,589 (GRCm39) |
V168F |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,950 (GRCm39) |
I701N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,297,848 (GRCm39) |
M238K |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,172 (GRCm39) |
T543A |
probably benign |
Het |
|
| Other mutations in Prkar2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01549:Prkar2b
|
APN |
12 |
32,111,071 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02056:Prkar2b
|
APN |
12 |
32,025,909 (GRCm39) |
splice site |
probably benign |
|
|
IGL02071:Prkar2b
|
APN |
12 |
32,013,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Prkar2b
|
APN |
12 |
32,025,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
spark
|
UTSW |
12 |
32,037,973 (GRCm39) |
splice site |
probably null |
|
|
R0211:Prkar2b
|
UTSW |
12 |
32,022,183 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0362:Prkar2b
|
UTSW |
12 |
32,037,973 (GRCm39) |
splice site |
probably null |
|
|
R0485:Prkar2b
|
UTSW |
12 |
32,026,034 (GRCm39) |
splice site |
probably benign |
|
|
R0898:Prkar2b
|
UTSW |
12 |
32,013,001 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1426:Prkar2b
|
UTSW |
12 |
32,012,987 (GRCm39) |
splice site |
probably benign |
|
|
R1997:Prkar2b
|
UTSW |
12 |
32,013,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2114:Prkar2b
|
UTSW |
12 |
32,017,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2346:Prkar2b
|
UTSW |
12 |
32,022,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2513:Prkar2b
|
UTSW |
12 |
32,025,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3875:Prkar2b
|
UTSW |
12 |
32,015,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5316:Prkar2b
|
UTSW |
12 |
32,110,984 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5351:Prkar2b
|
UTSW |
12 |
32,022,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Prkar2b
|
UTSW |
12 |
32,110,855 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6028:Prkar2b
|
UTSW |
12 |
32,043,757 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6563:Prkar2b
|
UTSW |
12 |
32,043,785 (GRCm39) |
splice site |
probably null |
|
|
R7074:Prkar2b
|
UTSW |
12 |
32,022,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Prkar2b
|
UTSW |
12 |
32,013,150 (GRCm39) |
splice site |
probably null |
|
|
R7747:Prkar2b
|
UTSW |
12 |
32,110,937 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7978:Prkar2b
|
UTSW |
12 |
32,013,024 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8926:Prkar2b
|
UTSW |
12 |
32,111,080 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R9102:Prkar2b
|
UTSW |
12 |
32,013,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTAGGGTTTTACACAGG -3'
(R):5'- CTTTGAAGTGTTCTAAAGTAGGCC -3'
Sequencing Primer
(F):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- AAATAACCTCACTTGTATGTGGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation