Incidental Mutation 'IGL02296:Pde4a'
| ID |
290191 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde4a
|
| Ensembl Gene |
ENSMUSG00000032177 |
| Gene Name |
phosphodiesterase 4A, cAMP specific |
| Synonyms |
D9Ertd60e, dunce, Dpde2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
IGL02296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21077010-21124544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21103865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 138
(N138I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003395]
[ENSMUST00000039413]
[ENSMUST00000115458]
|
| AlphaFold |
O89084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003395
|
| SMART Domains |
Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
| 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 |
possibly damaging
Transcript: ENSMUST00000039413
AA Change: N195I
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: N195I
| 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: N138I
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: N138I
| 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: ENSMUST00000127821
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140440
|
| Coding Region Coverage |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402D24Rik |
T |
A |
1: 63,808,344 (GRCm39) |
R7S |
unknown |
Het |
| Acss3 |
A |
T |
10: 106,889,312 (GRCm39) |
Y169* |
probably null |
Het |
| Anln |
T |
C |
9: 22,283,483 (GRCm39) |
K450R |
possibly damaging |
Het |
| Armc10 |
A |
T |
5: 21,865,631 (GRCm39) |
R225S |
probably benign |
Het |
| Cbfb |
T |
A |
8: 105,905,312 (GRCm39) |
Y85N |
probably damaging |
Het |
| Col13a1 |
G |
T |
10: 61,697,804 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
T |
C |
3: 86,700,600 (GRCm39) |
I626V |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,731,065 (GRCm39) |
T172M |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Glyat |
A |
T |
19: 12,628,625 (GRCm39) |
D140V |
probably damaging |
Het |
| Hikeshi |
A |
T |
7: 89,585,130 (GRCm39) |
F25I |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,576,880 (GRCm39) |
Y574H |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,574,317 (GRCm39) |
R501* |
probably null |
Het |
| Kdm4a |
T |
C |
4: 118,034,662 (GRCm39) |
E23G |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,751,983 (GRCm39) |
S456N |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,221,021 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,200 (GRCm39) |
N289S |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,474,793 (GRCm39) |
A674D |
possibly damaging |
Het |
| Or1e25 |
A |
T |
11: 73,493,532 (GRCm39) |
N42I |
probably damaging |
Het |
| Or51i1 |
A |
T |
7: 103,671,311 (GRCm39) |
|
probably null |
Het |
| Pak2 |
T |
C |
16: 31,862,820 (GRCm39) |
|
probably null |
Het |
| Per1 |
A |
G |
11: 68,993,001 (GRCm39) |
D286G |
probably damaging |
Het |
| Pramel23 |
G |
A |
4: 143,425,051 (GRCm39) |
Q131* |
probably null |
Het |
| Prdx2 |
T |
A |
8: 85,700,681 (GRCm39) |
D188E |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,048,657 (GRCm39) |
K453R |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,492,218 (GRCm39) |
V470A |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,123,464 (GRCm39) |
S416G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,354,162 (GRCm39) |
H4013R |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,208,055 (GRCm39) |
L185P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,768 (GRCm39) |
I33406T |
probably damaging |
Het |
| Ube2e1 |
A |
G |
14: 18,331,062 (GRCm38) |
|
probably benign |
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 |
|
|
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 |
|
|
R5552:Pde4a
|
UTSW |
9 |
21,112,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation