Incidental Mutation 'R2905:Pde4a'
| ID |
261621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4a
|
| Ensembl Gene |
ENSMUSG00000032177 |
| Gene Name |
phosphodiesterase 4A, cAMP specific |
| Synonyms |
D9Ertd60e, dunce, Dpde2 |
| MMRRC Submission |
040492-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R2905 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21077010-21124544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21112645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 274
(T274S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003395]
[ENSMUST00000039413]
[ENSMUST00000115458]
|
| AlphaFold |
O89084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003395
AA Change: T97S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
AA Change: T97S
| 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 benign
Transcript: ENSMUST00000039413
AA Change: T331S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: T331S
| 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: T274S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: T274S
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
C |
A |
4: 153,517,284 (GRCm39) |
R19L |
probably benign |
Het |
| Alk |
A |
C |
17: 72,292,489 (GRCm39) |
S496R |
probably benign |
Het |
| Arhgap15 |
T |
C |
2: 43,953,798 (GRCm39) |
F175L |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
| Cuedc2 |
C |
T |
19: 46,321,088 (GRCm39) |
V15I |
probably benign |
Het |
| Dennd3 |
T |
A |
15: 73,429,495 (GRCm39) |
L4Q |
probably damaging |
Het |
| Dusp8 |
T |
A |
7: 141,637,126 (GRCm39) |
K234* |
probably null |
Het |
| Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
| F7 |
C |
T |
8: 13,084,775 (GRCm39) |
T267I |
probably benign |
Het |
| Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,624,786 (GRCm39) |
S1040P |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Jtb |
C |
G |
3: 90,139,799 (GRCm39) |
P62R |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ly6m |
T |
A |
15: 74,751,716 (GRCm39) |
Y106F |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,164,898 (GRCm39) |
V760A |
probably benign |
Het |
| Nudt4 |
T |
G |
10: 95,399,571 (GRCm39) |
K17Q |
probably benign |
Het |
| Or6c217 |
T |
C |
10: 129,738,269 (GRCm39) |
I103M |
possibly damaging |
Het |
| Pou6f1 |
C |
T |
15: 100,483,839 (GRCm39) |
V220I |
probably benign |
Het |
| Relch |
T |
C |
1: 105,619,719 (GRCm39) |
V316A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,988,516 (GRCm39) |
S752P |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,286,031 (GRCm39) |
I73T |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,915,425 (GRCm39) |
L295P |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,802 (GRCm39) |
M816T |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,732,064 (GRCm39) |
N970S |
probably benign |
Het |
| Ttll8 |
A |
T |
15: 88,798,680 (GRCm39) |
M685K |
probably benign |
Het |
| Ushbp1 |
G |
A |
8: 71,840,179 (GRCm39) |
R491* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAAAGCCATCCCATGCTTC -3'
(R):5'- ATCCAAGGTTCTGGTGGAGC -3'
Sequencing Primer
(F):5'- TCTTACCTGACCTTTGACAGACAAG -3'
(R):5'- AGCAAGTTGGAGTCACTCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation