Incidental Mutation 'R0257:Pde4a'
| ID |
34788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4a
|
| Ensembl Gene |
ENSMUSG00000032177 |
| Gene Name |
phosphodiesterase 4A, cAMP specific |
| Synonyms |
Dpde2, dunce, D9Ertd60e |
| MMRRC Submission |
038488-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R0257 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21165714-21213248 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21192421 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 175
(P175L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037025
(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 |
probably damaging
Transcript: ENSMUST00000039413
AA Change: P175L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: P175L
| 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 benign
Transcript: ENSMUST00000115458
AA Change: P118L
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: P118L
| 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
|
| Meta Mutation Damage Score |
0.4583 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061G19Rik |
T |
A |
17: 56,885,169 (GRCm38) |
Y577* |
probably null |
Het |
| Aatf |
T |
A |
11: 84,510,281 (GRCm38) |
E171D |
probably benign |
Het |
| Adgre5 |
T |
A |
8: 83,731,995 (GRCm38) |
H134L |
possibly damaging |
Het |
| Ahsg |
A |
T |
16: 22,899,040 (GRCm38) |
M256L |
probably benign |
Het |
| Alk |
A |
T |
17: 72,603,495 (GRCm38) |
L72Q |
probably damaging |
Het |
| Ano2 |
C |
A |
6: 125,880,713 (GRCm38) |
A505E |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,822,039 (GRCm38) |
K908E |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,850,787 (GRCm38) |
V157A |
probably benign |
Het |
| Car2 |
C |
G |
3: 14,899,977 (GRCm38) |
H224D |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,144,035 (GRCm38) |
D287G |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,250,754 (GRCm38) |
N944K |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,842,853 (GRCm38) |
|
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 131,106,393 (GRCm38) |
E1281G |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,955,803 (GRCm38) |
|
probably benign |
Het |
| Dtx3 |
T |
C |
10: 127,192,892 (GRCm38) |
D159G |
probably benign |
Het |
| Ets2 |
T |
A |
16: 95,712,201 (GRCm38) |
C140* |
probably null |
Het |
| Fbf1 |
T |
C |
11: 116,155,091 (GRCm38) |
I226V |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 94,043,915 (GRCm38) |
H210Q |
probably benign |
Het |
| Fktn |
A |
G |
4: 53,734,898 (GRCm38) |
T179A |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,781,078 (GRCm38) |
M398T |
probably damaging |
Het |
| Grk5 |
G |
T |
19: 61,076,630 (GRCm38) |
|
probably benign |
Het |
| Gse1 |
A |
G |
8: 120,572,334 (GRCm38) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,369,164 (GRCm38) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,724,544 (GRCm38) |
|
probably null |
Het |
| Lama4 |
T |
C |
10: 39,094,884 (GRCm38) |
|
probably benign |
Het |
| Luzp2 |
A |
G |
7: 55,249,446 (GRCm38) |
T271A |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,693,534 (GRCm38) |
V1053D |
probably damaging |
Het |
| Mrm1 |
A |
C |
11: 84,814,823 (GRCm38) |
|
probably benign |
Het |
| Msh5 |
G |
C |
17: 35,032,864 (GRCm38) |
R407G |
probably damaging |
Het |
| Myo1c |
A |
T |
11: 75,665,516 (GRCm38) |
|
probably null |
Het |
| Nek5 |
T |
C |
8: 22,123,672 (GRCm38) |
|
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,490,698 (GRCm38) |
I894V |
possibly damaging |
Het |
| Olfr372 |
C |
T |
8: 72,058,400 (GRCm38) |
T240M |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,315,096 (GRCm38) |
A628E |
possibly damaging |
Het |
| Piwil2 |
C |
T |
14: 70,422,631 (GRCm38) |
S139N |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,653,039 (GRCm38) |
K721E |
possibly damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,227,983 (GRCm38) |
S57Y |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,682,535 (GRCm38) |
V100M |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,257,681 (GRCm38) |
M199L |
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 23,855,858 (GRCm38) |
S293F |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,784,880 (GRCm38) |
|
probably benign |
Het |
| Sned1 |
A |
T |
1: 93,265,097 (GRCm38) |
S369C |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,819,962 (GRCm38) |
F539L |
probably benign |
Het |
| Stam2 |
C |
T |
2: 52,694,782 (GRCm38) |
G500D |
possibly damaging |
Het |
| Stx16 |
G |
A |
2: 174,096,961 (GRCm38) |
V307M |
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,179,610 (GRCm38) |
S211L |
possibly damaging |
Het |
| Tcf12 |
C |
T |
9: 71,858,622 (GRCm38) |
S512N |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,450,813 (GRCm38) |
V909A |
possibly damaging |
Het |
| Tmem64 |
C |
T |
4: 15,266,343 (GRCm38) |
A131V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,894,355 (GRCm38) |
N1176K |
possibly damaging |
Het |
| Trrap |
C |
T |
5: 144,804,235 (GRCm38) |
S1264L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,810,431 (GRCm38) |
T13658S |
possibly damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,029,627 (GRCm38) |
T794I |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 10,171,055 (GRCm38) |
R286* |
probably null |
Het |
| Vps53 |
A |
T |
11: 76,177,385 (GRCm38) |
|
probably benign |
Het |
| Wdr18 |
A |
G |
10: 79,961,119 (GRCm38) |
|
probably benign |
Het |
| Wdr31 |
A |
G |
4: 62,460,518 (GRCm38) |
|
probably null |
Het |
| Zfp458 |
T |
A |
13: 67,259,642 (GRCm38) |
K47* |
probably null |
Het |
| Zfp983 |
A |
G |
17: 21,661,440 (GRCm38) |
T95A |
probably benign |
Het |
|
| Other mutations in Pde4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Pde4a
|
APN |
9 |
21,211,061 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01330:Pde4a
|
APN |
9 |
21,192,438 (GRCm38) |
splice site |
probably benign |
|
|
IGL01403:Pde4a
|
APN |
9 |
21,205,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01610:Pde4a
|
APN |
9 |
21,211,350 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02010:Pde4a
|
APN |
9 |
21,203,554 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02296:Pde4a
|
APN |
9 |
21,192,569 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02637:Pde4a
|
APN |
9 |
21,201,332 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT4696001:Pde4a
|
UTSW |
9 |
21,211,001 (GRCm38) |
missense |
probably benign |
|
|
R0032:Pde4a
|
UTSW |
9 |
21,201,432 (GRCm38) |
splice site |
probably benign |
|
|
R0032:Pde4a
|
UTSW |
9 |
21,201,432 (GRCm38) |
splice site |
probably benign |
|
|
R0504:Pde4a
|
UTSW |
9 |
21,204,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1437:Pde4a
|
UTSW |
9 |
21,192,592 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1524:Pde4a
|
UTSW |
9 |
21,201,247 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1750:Pde4a
|
UTSW |
9 |
21,203,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2239:Pde4a
|
UTSW |
9 |
21,211,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2905:Pde4a
|
UTSW |
9 |
21,201,349 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2991:Pde4a
|
UTSW |
9 |
21,203,243 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3972:Pde4a
|
UTSW |
9 |
21,206,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4826:Pde4a
|
UTSW |
9 |
21,192,380 (GRCm38) |
splice site |
probably null |
|
|
R4922:Pde4a
|
UTSW |
9 |
21,210,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5195:Pde4a
|
UTSW |
9 |
21,204,333 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5208:Pde4a
|
UTSW |
9 |
21,203,558 (GRCm38) |
splice site |
probably null |
|
|
R5552:Pde4a
|
UTSW |
9 |
21,201,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5713:Pde4a
|
UTSW |
9 |
21,203,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6722:Pde4a
|
UTSW |
9 |
21,211,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6792:Pde4a
|
UTSW |
9 |
21,192,590 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6861:Pde4a
|
UTSW |
9 |
21,205,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6901:Pde4a
|
UTSW |
9 |
21,204,970 (GRCm38) |
missense |
probably benign |
0.37 |
|
R7300:Pde4a
|
UTSW |
9 |
21,206,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7690:Pde4a
|
UTSW |
9 |
21,166,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7798:Pde4a
|
UTSW |
9 |
21,198,663 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8073:Pde4a
|
UTSW |
9 |
21,210,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8133:Pde4a
|
UTSW |
9 |
21,191,377 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8167:Pde4a
|
UTSW |
9 |
21,206,173 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8297:Pde4a
|
UTSW |
9 |
21,166,108 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8348:Pde4a
|
UTSW |
9 |
21,206,238 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8448:Pde4a
|
UTSW |
9 |
21,206,238 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8853:Pde4a
|
UTSW |
9 |
21,194,823 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8953:Pde4a
|
UTSW |
9 |
21,210,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9167:Pde4a
|
UTSW |
9 |
21,191,502 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9492:Pde4a
|
UTSW |
9 |
21,194,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9686:Pde4a
|
UTSW |
9 |
21,206,266 (GRCm38) |
missense |
probably benign |
0.09 |
|
X0027:Pde4a
|
UTSW |
9 |
21,198,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATAAGCCCTACAGGGTGGGAGC -3'
(R):5'- CACCACTTACTTGTTGCTGGGGATG -3'
Sequencing Primer
(F):5'- TGGGAGCCCCAACTACTTG -3'
(R):5'- ATGGGCACATTGGTTAGGAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation