Incidental Mutation 'R5552:Pde4a'
| ID |
435181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4a
|
| Ensembl Gene |
ENSMUSG00000032177 |
| Gene Name |
phosphodiesterase 4A, cAMP specific |
| Synonyms |
D9Ertd60e, dunce, Dpde2 |
| MMRRC Submission |
043109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R5552 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21077010-21124544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21112682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 343
(V343A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003395]
[ENSMUST00000039413]
[ENSMUST00000115458]
|
| AlphaFold |
O89084 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003395
AA Change: V109A
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
AA Change: V109A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
87 |
N/A |
INTRINSIC |
|
HDc
|
182 |
357 |
7.12e-5 |
SMART |
|
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039413
AA Change: V343A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: V343A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
321 |
N/A |
INTRINSIC |
|
HDc
|
416 |
591 |
7.12e-5 |
SMART |
|
low complexity region
|
696 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115458
AA Change: V286A
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: V286A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
264 |
N/A |
INTRINSIC |
|
HDc
|
359 |
534 |
7.12e-5 |
SMART |
|
low complexity region
|
639 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131769
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous null mice have a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgap19 |
T |
C |
19: 41,772,819 (GRCm39) |
I291M |
probably benign |
Het |
| Blzf1 |
A |
T |
1: 164,130,058 (GRCm39) |
I91N |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,521,855 (GRCm39) |
V53A |
possibly damaging |
Het |
| Dcst1 |
T |
C |
3: 89,272,373 (GRCm39) |
D30G |
probably benign |
Het |
| Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
| Gli1 |
C |
A |
10: 127,166,131 (GRCm39) |
A1041S |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
| H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
| Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,616 (GRCm39) |
F234S |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
| Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,145,135 (GRCm39) |
T64S |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
| Serpina3g |
T |
C |
12: 104,206,595 (GRCm39) |
V132A |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
probably null |
Het |
|
| Other mutations in Pde4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Pde4a
|
APN |
9 |
21,122,357 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01330:Pde4a
|
APN |
9 |
21,103,734 (GRCm39) |
splice site |
probably benign |
|
|
IGL01403:Pde4a
|
APN |
9 |
21,116,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Pde4a
|
APN |
9 |
21,122,646 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02010:Pde4a
|
APN |
9 |
21,114,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02296:Pde4a
|
APN |
9 |
21,103,865 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02637:Pde4a
|
APN |
9 |
21,112,628 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4696001:Pde4a
|
UTSW |
9 |
21,122,297 (GRCm39) |
missense |
probably benign |
|
|
R0032:Pde4a
|
UTSW |
9 |
21,112,728 (GRCm39) |
splice site |
probably benign |
|
|
R0032:Pde4a
|
UTSW |
9 |
21,112,728 (GRCm39) |
splice site |
probably benign |
|
|
R0257:Pde4a
|
UTSW |
9 |
21,103,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Pde4a
|
UTSW |
9 |
21,115,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Pde4a
|
UTSW |
9 |
21,103,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1524:Pde4a
|
UTSW |
9 |
21,112,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1750:Pde4a
|
UTSW |
9 |
21,114,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Pde4a
|
UTSW |
9 |
21,122,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2905:Pde4a
|
UTSW |
9 |
21,112,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2991:Pde4a
|
UTSW |
9 |
21,114,539 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3972:Pde4a
|
UTSW |
9 |
21,117,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4826:Pde4a
|
UTSW |
9 |
21,103,676 (GRCm39) |
splice site |
probably null |
|
|
R4922:Pde4a
|
UTSW |
9 |
21,122,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Pde4a
|
UTSW |
9 |
21,115,629 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5208:Pde4a
|
UTSW |
9 |
21,114,854 (GRCm39) |
splice site |
probably null |
|
|
R5713:Pde4a
|
UTSW |
9 |
21,114,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Pde4a
|
UTSW |
9 |
21,122,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Pde4a
|
UTSW |
9 |
21,103,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6861:Pde4a
|
UTSW |
9 |
21,116,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Pde4a
|
UTSW |
9 |
21,116,266 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7300:Pde4a
|
UTSW |
9 |
21,117,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Pde4a
|
UTSW |
9 |
21,077,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Pde4a
|
UTSW |
9 |
21,109,959 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8073:Pde4a
|
UTSW |
9 |
21,122,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Pde4a
|
UTSW |
9 |
21,102,673 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8167:Pde4a
|
UTSW |
9 |
21,117,469 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8297:Pde4a
|
UTSW |
9 |
21,077,404 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8348:Pde4a
|
UTSW |
9 |
21,117,534 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8448:Pde4a
|
UTSW |
9 |
21,117,534 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8853:Pde4a
|
UTSW |
9 |
21,106,119 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8953:Pde4a
|
UTSW |
9 |
21,122,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9167:Pde4a
|
UTSW |
9 |
21,102,798 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9492:Pde4a
|
UTSW |
9 |
21,106,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Pde4a
|
UTSW |
9 |
21,117,562 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0027:Pde4a
|
UTSW |
9 |
21,109,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTTGACAGACAAGCAGC -3'
(R):5'- TGTGTCAGAATGAGTGACTGTC -3'
Sequencing Primer
(F):5'- CTTTGACAGACAAGCAGCACGAAG -3'
(R):5'- AGCAAGTTGGAGTCACTCTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation