Incidental Mutation 'R3820:Prkar2a'
| ID |
274860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkar2a
|
| Ensembl Gene |
ENSMUSG00000032601 |
| Gene Name |
protein kinase, cAMP dependent regulatory, type II alpha |
| Synonyms |
1110061A24Rik, RII(alpha) |
| MMRRC Submission |
040882-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3820 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108569342-108627643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 108624155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 391
(F391V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035220]
[ENSMUST00000195405]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035220
AA Change: F391V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: F391V
| Domain | Start | End | E-Value | Type |
|---|
|
RIIa
|
8 |
45 |
7.15e-16 |
SMART |
|
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
114 |
N/A |
INTRINSIC |
|
cNMP
|
137 |
257 |
2.27e-23 |
SMART |
|
cNMP
|
259 |
384 |
2.02e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195263
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195405
AA Change: F369V
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: F369V
| Domain | Start | End | E-Value | Type |
|---|
|
RIIa
|
8 |
45 |
4.3e-18 |
SMART |
|
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
114 |
N/A |
INTRINSIC |
|
cNMP
|
137 |
257 |
1.1e-25 |
SMART |
|
cNMP
|
259 |
362 |
3.9e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.4331 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
96% (47/49) |
| 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. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and appear healthy. They have normal growth and no deficits in locomotor activity, muscle strength, or exploratory behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
T |
18: 6,630,166 (GRCm39) |
|
probably null |
Het |
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Abcd2 |
C |
T |
15: 91,058,908 (GRCm39) |
G512D |
probably damaging |
Het |
| Adam6a |
T |
C |
12: 113,507,798 (GRCm39) |
I57T |
probably benign |
Het |
| Adam6b |
C |
T |
12: 113,453,984 (GRCm39) |
T267I |
probably benign |
Het |
| Ap1g2 |
G |
A |
14: 55,338,030 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
G |
A |
14: 33,089,378 (GRCm39) |
E455K |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,094,583 (GRCm39) |
V917I |
probably damaging |
Het |
| Ccdc93 |
T |
C |
1: 121,389,969 (GRCm39) |
I253T |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Edar |
T |
C |
10: 58,457,185 (GRCm39) |
Y131C |
probably damaging |
Het |
| Eif5 |
A |
T |
12: 111,506,618 (GRCm39) |
R43* |
probably null |
Het |
| Eml4 |
C |
A |
17: 83,780,494 (GRCm39) |
T667K |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,102,510 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,636,827 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,424,270 (GRCm39) |
I3056F |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Itgb3 |
C |
A |
11: 104,524,438 (GRCm39) |
Y191* |
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,350,006 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,790,904 (GRCm39) |
H486R |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,852,277 (GRCm39) |
N950S |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
| Micall2 |
C |
T |
5: 139,701,611 (GRCm39) |
G461D |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,995 (GRCm39) |
N252S |
probably damaging |
Het |
| Pcdhgb7 |
C |
A |
18: 37,885,286 (GRCm39) |
T152K |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,811,419 (GRCm39) |
V338A |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,659,802 (GRCm39) |
V255A |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,328 (GRCm39) |
C1056R |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,218,862 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,802,802 (GRCm39) |
Y112* |
probably null |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Tdrd5 |
A |
G |
1: 156,113,053 (GRCm39) |
V409A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,689,745 (GRCm39) |
H800N |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,964,813 (GRCm39) |
N1436I |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,838,240 (GRCm39) |
S870R |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,510,143 (GRCm39) |
P509S |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
A |
T |
13: 67,769,438 (GRCm39) |
C264S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,657,381 (GRCm39) |
K521* |
probably null |
Het |
|
| Other mutations in Prkar2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02064:Prkar2a
|
APN |
9 |
108,610,403 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02073:Prkar2a
|
APN |
9 |
108,610,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02117:Prkar2a
|
APN |
9 |
108,596,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Prkar2a
|
APN |
9 |
108,624,152 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02635:Prkar2a
|
APN |
9 |
108,605,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03006:Prkar2a
|
APN |
9 |
108,617,640 (GRCm39) |
missense |
probably benign |
|
|
PIT4486001:Prkar2a
|
UTSW |
9 |
108,610,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Prkar2a
|
UTSW |
9 |
108,596,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Prkar2a
|
UTSW |
9 |
108,596,496 (GRCm39) |
splice site |
probably benign |
|
|
R0943:Prkar2a
|
UTSW |
9 |
108,610,475 (GRCm39) |
splice site |
probably benign |
|
|
R1513:Prkar2a
|
UTSW |
9 |
108,605,469 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2178:Prkar2a
|
UTSW |
9 |
108,617,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3842:Prkar2a
|
UTSW |
9 |
108,605,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Prkar2a
|
UTSW |
9 |
108,617,584 (GRCm39) |
intron |
probably benign |
|
|
R4886:Prkar2a
|
UTSW |
9 |
108,622,823 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5051:Prkar2a
|
UTSW |
9 |
108,622,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5435:Prkar2a
|
UTSW |
9 |
108,617,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Prkar2a
|
UTSW |
9 |
108,610,342 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7121:Prkar2a
|
UTSW |
9 |
108,569,821 (GRCm39) |
missense |
probably benign |
|
|
R7199:Prkar2a
|
UTSW |
9 |
108,617,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Prkar2a
|
UTSW |
9 |
108,622,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Prkar2a
|
UTSW |
9 |
108,569,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Prkar2a
|
UTSW |
9 |
108,596,448 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8253:Prkar2a
|
UTSW |
9 |
108,617,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Prkar2a
|
UTSW |
9 |
108,622,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCCAGTATTCTAACGTTC -3'
(R):5'- TTAACCACAGCAATGGCAGC -3'
Sequencing Primer
(F):5'- GTTCACTCCTGTAACATGAGCGAG -3'
(R):5'- CAATGGCAGCGGCGGAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation