Incidental Mutation 'IGL00340:Pde4a'
ID |
4931 |
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 # |
IGL00340
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
21077010-21124544 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 21122357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 694
(K694T)
|
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: K517T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003395 Gene: ENSMUSG00000032177 AA Change: K517T
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: K751T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037025 Gene: ENSMUSG00000032177 AA Change: K751T
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: K694T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000111118 Gene: ENSMUSG00000032177 AA Change: K694T
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 |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
G |
A |
5: 89,849,525 (GRCm39) |
H632Y |
probably damaging |
Het |
Adgre5 |
T |
A |
8: 84,455,030 (GRCm39) |
M221L |
probably benign |
Het |
Apba2 |
A |
T |
7: 64,386,689 (GRCm39) |
I439F |
possibly damaging |
Het |
Arid1b |
C |
A |
17: 5,371,559 (GRCm39) |
N632K |
probably damaging |
Het |
Bcas3 |
A |
T |
11: 85,256,417 (GRCm39) |
I60L |
probably damaging |
Het |
Brd9 |
T |
C |
13: 74,086,666 (GRCm39) |
S56P |
probably damaging |
Het |
Ccdc57 |
T |
A |
11: 120,751,295 (GRCm39) |
D925V |
possibly damaging |
Het |
Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
Cdhr3 |
T |
C |
12: 33,102,208 (GRCm39) |
T410A |
probably benign |
Het |
Cimap3 |
A |
G |
3: 105,921,824 (GRCm39) |
V33A |
probably benign |
Het |
Ddx60 |
G |
T |
8: 62,411,680 (GRCm39) |
D511Y |
probably damaging |
Het |
Drc7 |
C |
A |
8: 95,782,629 (GRCm39) |
|
probably benign |
Het |
Dysf |
A |
G |
6: 84,118,933 (GRCm39) |
E1290G |
probably benign |
Het |
Fam168b |
T |
C |
1: 34,875,883 (GRCm39) |
M1V |
probably null |
Het |
Farsa |
A |
G |
8: 85,590,886 (GRCm39) |
K208R |
probably damaging |
Het |
Fnip2 |
A |
G |
3: 79,425,368 (GRCm39) |
|
probably benign |
Het |
Gm17535 |
A |
T |
9: 3,035,111 (GRCm39) |
H170L |
probably benign |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gm5852 |
T |
C |
3: 93,634,501 (GRCm39) |
|
noncoding transcript |
Het |
Gnb2 |
T |
C |
5: 137,528,968 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,373,494 (GRCm39) |
N143S |
probably damaging |
Het |
Hcn1 |
C |
A |
13: 117,739,513 (GRCm39) |
Q92K |
unknown |
Het |
Helb |
T |
C |
10: 119,934,150 (GRCm39) |
I678V |
possibly damaging |
Het |
Hnrnpl |
C |
A |
7: 28,512,798 (GRCm39) |
A118D |
probably damaging |
Het |
Klhl14 |
G |
A |
18: 21,784,921 (GRCm39) |
P169S |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,481,904 (GRCm39) |
|
probably benign |
Het |
Lmod2 |
A |
G |
6: 24,598,051 (GRCm39) |
E57G |
probably damaging |
Het |
Lrch4 |
T |
C |
5: 137,636,009 (GRCm39) |
I300T |
possibly damaging |
Het |
Lrp6 |
A |
G |
6: 134,433,053 (GRCm39) |
V1426A |
probably benign |
Het |
Lrrc39 |
A |
G |
3: 116,364,630 (GRCm39) |
|
probably benign |
Het |
Mamstr |
G |
A |
7: 45,293,709 (GRCm39) |
V262I |
probably benign |
Het |
Mob1b |
A |
T |
5: 88,904,014 (GRCm39) |
T217S |
probably benign |
Het |
Mocs3 |
G |
A |
2: 168,073,411 (GRCm39) |
R286H |
possibly damaging |
Het |
Mpo |
A |
T |
11: 87,693,443 (GRCm39) |
Q27L |
probably benign |
Het |
Ncdn |
A |
T |
4: 126,640,981 (GRCm39) |
D506E |
probably benign |
Het |
Noxa1 |
A |
G |
2: 24,984,914 (GRCm39) |
I8T |
probably benign |
Het |
Oma1 |
G |
T |
4: 103,176,565 (GRCm39) |
A110S |
probably benign |
Het |
Or10a48 |
C |
T |
7: 108,424,280 (GRCm39) |
V309I |
probably benign |
Het |
Or13a18 |
T |
A |
7: 140,190,666 (GRCm39) |
S196T |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,346 (GRCm39) |
Y131C |
probably damaging |
Het |
Phc1 |
A |
G |
6: 122,299,958 (GRCm39) |
|
probably benign |
Het |
Pias1 |
A |
G |
9: 62,830,578 (GRCm39) |
V187A |
probably damaging |
Het |
Pigf |
C |
A |
17: 87,327,876 (GRCm39) |
L130F |
probably null |
Het |
Pkd1 |
G |
T |
17: 24,799,069 (GRCm39) |
V2763L |
probably damaging |
Het |
Potefam1 |
G |
T |
2: 111,051,107 (GRCm39) |
L230I |
probably damaging |
Het |
Ppp1r8 |
T |
C |
4: 132,561,992 (GRCm39) |
Y76C |
probably damaging |
Het |
Ppp6r3 |
C |
A |
19: 3,568,324 (GRCm39) |
G158V |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,698,924 (GRCm39) |
I1136V |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,412,790 (GRCm39) |
I1770V |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,070,185 (GRCm39) |
I148F |
probably damaging |
Het |
Stard3 |
T |
C |
11: 98,268,285 (GRCm39) |
Y239H |
probably damaging |
Het |
Stau1 |
T |
C |
2: 166,792,729 (GRCm39) |
Y412C |
probably benign |
Het |
Sucnr1 |
A |
G |
3: 59,994,053 (GRCm39) |
I194V |
probably benign |
Het |
Tanc1 |
A |
G |
2: 59,621,185 (GRCm39) |
T335A |
possibly damaging |
Het |
Tmem126a |
T |
C |
7: 90,101,963 (GRCm39) |
T79A |
probably benign |
Het |
Trav9-2 |
A |
T |
14: 53,828,840 (GRCm39) |
Y70F |
probably benign |
Het |
Tspear |
A |
G |
10: 77,709,070 (GRCm39) |
E432G |
probably benign |
Het |
Ube2o |
T |
C |
11: 116,435,580 (GRCm39) |
R403G |
probably benign |
Het |
Unc80 |
C |
A |
1: 66,645,618 (GRCm39) |
S1431R |
possibly damaging |
Het |
Usp24 |
G |
A |
4: 106,258,336 (GRCm39) |
C1578Y |
probably damaging |
Het |
Vsig10 |
A |
T |
5: 117,489,652 (GRCm39) |
M473L |
probably benign |
Het |
Xpot |
T |
A |
10: 121,441,549 (GRCm39) |
M559L |
probably benign |
Het |
|
Other mutations in Pde4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |