Incidental Mutation 'R8953:Pde4a'
| ID |
681768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4a
|
| Ensembl Gene |
ENSMUSG00000032177 |
| Gene Name |
phosphodiesterase 4A, cAMP specific |
| Synonyms |
D9Ertd60e, dunce, Dpde2 |
| MMRRC Submission |
068789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R8953 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21077010-21124544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21122030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 585
(T585K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003395]
[ENSMUST00000039413]
[ENSMUST00000115458]
|
| AlphaFold |
O89084 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003395
AA Change: T408K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
AA Change: T408K
| 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: T642K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: T642K
| 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 |
probably damaging
Transcript: ENSMUST00000115458
AA Change: T585K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: T585K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,518,015 (GRCm39) |
V765L |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,630 (GRCm39) |
T915S |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 136,025,170 (GRCm39) |
H992Y |
possibly damaging |
Het |
| Castor1 |
A |
T |
11: 4,171,249 (GRCm39) |
I244F |
probably benign |
Het |
| Clpp |
T |
A |
17: 57,298,373 (GRCm39) |
M113K |
probably damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,222,272 (GRCm39) |
L321P |
probably damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,809 (GRCm39) |
Q105R |
possibly damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,735,542 (GRCm39) |
R830Q |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,016,238 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
A |
G |
11: 101,662,513 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
G |
12: 85,522,826 (GRCm39) |
D246G |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,253,675 (GRCm39) |
S613P |
probably damaging |
Het |
| Gabra2 |
A |
T |
5: 71,163,525 (GRCm39) |
C261S |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,264,388 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
G |
8: 70,269,427 (GRCm39) |
L533R |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,647,006 (GRCm39) |
T147A |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,884 (GRCm39) |
R1870Q |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,490,839 (GRCm39) |
Y986H |
probably damaging |
Het |
| Kcnk3 |
A |
C |
5: 30,779,382 (GRCm39) |
K144T |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,835,313 (GRCm39) |
V1293A |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,818,539 (GRCm39) |
I498V |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,965,078 (GRCm39) |
L289P |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,383,792 (GRCm39) |
D43E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,620,716 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
C |
A |
13: 111,842,587 (GRCm39) |
T136K |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,238,890 (GRCm39) |
W242R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,632 (GRCm39) |
V932A |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,269 (GRCm39) |
M75L |
probably benign |
Het |
| Or5p55 |
G |
A |
7: 107,567,251 (GRCm39) |
V216I |
probably benign |
Het |
| Or5w15 |
A |
T |
2: 87,568,371 (GRCm39) |
M99K |
probably benign |
Het |
| Or9a4 |
G |
T |
6: 40,548,676 (GRCm39) |
A119S |
possibly damaging |
Het |
| Otub2 |
A |
T |
12: 103,370,585 (GRCm39) |
D289V |
probably damaging |
Het |
| P2rx3 |
A |
G |
2: 84,853,842 (GRCm39) |
V133A |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,987,320 (GRCm39) |
Y534N |
probably benign |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,991 (GRCm39) |
D232G |
possibly damaging |
Het |
| Pklr |
C |
T |
3: 89,049,612 (GRCm39) |
S234L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,410,815 (GRCm39) |
K271E |
probably damaging |
Het |
| Plch1 |
T |
G |
3: 63,639,126 (GRCm39) |
H449P |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,418,507 (GRCm39) |
L92P |
possibly damaging |
Het |
| Pramel51 |
A |
G |
12: 88,144,070 (GRCm39) |
C248R |
probably benign |
Het |
| Ptgdr2 |
C |
T |
19: 10,917,786 (GRCm39) |
T101I |
probably benign |
Het |
| Rad54l2 |
A |
T |
9: 106,570,461 (GRCm39) |
H1286Q |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,867,546 (GRCm39) |
S3P |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,928 (GRCm39) |
V1598I |
probably benign |
Het |
| Rph3al |
G |
T |
11: 75,797,401 (GRCm39) |
C98* |
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,163,746 (GRCm39) |
T613A |
probably damaging |
Het |
| Rps20 |
T |
A |
4: 3,834,617 (GRCm39) |
M82L |
probably benign |
Het |
| Rusf1 |
T |
G |
7: 127,872,678 (GRCm39) |
Q423H |
probably benign |
Het |
| Sh3bp4 |
A |
G |
1: 89,072,159 (GRCm39) |
I336V |
probably damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,438,254 (GRCm39) |
N174S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,058,241 (GRCm39) |
N1903S |
probably benign |
Het |
| Tacc2 |
T |
C |
7: 130,227,487 (GRCm39) |
S1391P |
probably benign |
Het |
| Terb1 |
T |
A |
8: 105,195,431 (GRCm39) |
D570V |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,338,966 (GRCm39) |
I615F |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,088 (GRCm39) |
N556S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,228 (GRCm39) |
D19228V |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,840,044 (GRCm39) |
Y269F |
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,080,420 (GRCm39) |
V517E |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,731,356 (GRCm39) |
S1120T |
probably benign |
Het |
| Zfr2 |
C |
A |
10: 81,084,271 (GRCm39) |
N650K |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,897,421 (GRCm39) |
T501I |
probably damaging |
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 |
|
|
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 |
|
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'- GTTAGGCAAAAGCGTTACCTG -3'
(R):5'- TCCTCAGTGCAAGGCAATCC -3'
Sequencing Primer
(F):5'- GCGTTACCTGCCAATCAACTGAG -3'
(R):5'- GTGCAAGGCAATCCTGGAACC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation