Incidental Mutation 'IGL02528:Pde8a'
| ID |
297210 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde8a
|
| Ensembl Gene |
ENSMUSG00000025584 |
| Gene Name |
phosphodiesterase 8A |
| Synonyms |
Pde8 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02528
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 80942937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
| AlphaFold |
O88502 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026672
|
| SMART Domains |
Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
|
Blast:REC
|
79 |
194 |
2e-48 |
BLAST |
|
PAS
|
211 |
277 |
2.18e-2 |
SMART |
|
Blast:HDc
|
403 |
451 |
4e-11 |
BLAST |
|
HDc
|
548 |
734 |
5.78e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128154
|
| 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 PDE8 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 found for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
A |
6: 65,930,357 (GRCm39) |
|
probably benign |
Het |
| 4933416I08Rik |
T |
A |
X: 52,580,792 (GRCm39) |
N54I |
probably damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,943 (GRCm39) |
D188G |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,748,307 (GRCm39) |
Y1360C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,162,802 (GRCm39) |
V888A |
possibly damaging |
Het |
| C920021L13Rik |
A |
G |
3: 95,794,628 (GRCm39) |
|
probably benign |
Het |
| Ccdc89 |
A |
T |
7: 90,076,819 (GRCm39) |
Q343L |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,770,361 (GRCm39) |
M1843K |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,561,601 (GRCm39) |
S232P |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,145,686 (GRCm39) |
R1165L |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,962 (GRCm39) |
E625G |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,172 (GRCm39) |
V352A |
probably benign |
Het |
| Ggt5 |
T |
C |
10: 75,446,254 (GRCm39) |
|
probably benign |
Het |
| Gm11564 |
T |
A |
11: 99,706,293 (GRCm39) |
R46* |
probably null |
Het |
| Herc2 |
A |
G |
7: 55,758,641 (GRCm39) |
|
probably benign |
Het |
| Kash5 |
T |
C |
7: 44,833,170 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,110,556 (GRCm39) |
S256G |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,990,331 (GRCm39) |
*255W |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,417,754 (GRCm39) |
M3567V |
probably benign |
Het |
| Noxa1 |
A |
G |
2: 24,980,645 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,036,395 (GRCm39) |
|
probably benign |
Het |
| Pcna-ps2 |
A |
T |
19: 9,261,331 (GRCm39) |
I197L |
probably benign |
Het |
| Polr1a |
C |
A |
6: 71,941,701 (GRCm39) |
Q1070K |
probably benign |
Het |
| Pum2 |
G |
T |
12: 8,778,696 (GRCm39) |
G449* |
probably null |
Het |
| Rab29 |
T |
C |
1: 131,797,749 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
T |
A |
2: 119,605,431 (GRCm39) |
|
probably null |
Het |
| Scn7a |
A |
G |
2: 66,530,519 (GRCm39) |
Y609H |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,469,801 (GRCm39) |
S268P |
probably benign |
Het |
| Stat2 |
C |
T |
10: 128,126,534 (GRCm39) |
T753I |
probably benign |
Het |
| Susd6 |
T |
C |
12: 80,916,945 (GRCm39) |
V160A |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,356,460 (GRCm39) |
E51G |
possibly damaging |
Het |
| Tmem102 |
T |
A |
11: 69,694,532 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,720,582 (GRCm39) |
|
probably benign |
Het |
| Ubtd2 |
T |
A |
11: 32,449,249 (GRCm39) |
L32* |
probably null |
Het |
| Usp38 |
T |
C |
8: 81,719,864 (GRCm39) |
Y455C |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 108,281,099 (GRCm39) |
F671L |
probably benign |
Het |
| Xlr3a |
T |
C |
X: 72,138,573 (GRCm39) |
N29D |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,463,403 (GRCm39) |
E592G |
possibly damaging |
Het |
| Zmat4 |
T |
A |
8: 24,505,212 (GRCm39) |
S151T |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,892,324 (GRCm39) |
T631A |
probably benign |
Het |
|
| Other mutations in Pde8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00694:Pde8a
|
APN |
7 |
80,956,456 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL00808:Pde8a
|
APN |
7 |
80,932,762 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01134:Pde8a
|
APN |
7 |
80,968,826 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01443:Pde8a
|
APN |
7 |
80,973,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02044:Pde8a
|
APN |
7 |
80,967,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02269:Pde8a
|
APN |
7 |
80,958,550 (GRCm39) |
splice site |
probably benign |
|
|
IGL02738:Pde8a
|
APN |
7 |
80,976,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Pde8a
|
APN |
7 |
80,945,519 (GRCm39) |
splice site |
probably benign |
|
|
IGL03072:Pde8a
|
APN |
7 |
80,958,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cast_iron
|
UTSW |
7 |
80,932,555 (GRCm39) |
splice site |
probably null |
|
|
K7894:Pde8a
|
UTSW |
7 |
80,956,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Pde8a
|
UTSW |
7 |
80,968,871 (GRCm39) |
splice site |
probably benign |
|
|
R0069:Pde8a
|
UTSW |
7 |
80,968,871 (GRCm39) |
splice site |
probably benign |
|
|
R0547:Pde8a
|
UTSW |
7 |
80,973,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0552:Pde8a
|
UTSW |
7 |
80,967,095 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1342:Pde8a
|
UTSW |
7 |
80,952,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1469:Pde8a
|
UTSW |
7 |
80,952,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Pde8a
|
UTSW |
7 |
80,952,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Pde8a
|
UTSW |
7 |
80,942,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Pde8a
|
UTSW |
7 |
80,942,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Pde8a
|
UTSW |
7 |
80,950,471 (GRCm39) |
splice site |
probably null |
|
|
R2076:Pde8a
|
UTSW |
7 |
80,958,693 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2165:Pde8a
|
UTSW |
7 |
80,945,516 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2385:Pde8a
|
UTSW |
7 |
80,932,740 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2518:Pde8a
|
UTSW |
7 |
80,967,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4001:Pde8a
|
UTSW |
7 |
80,967,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4114:Pde8a
|
UTSW |
7 |
80,932,555 (GRCm39) |
splice site |
probably null |
|
|
R4115:Pde8a
|
UTSW |
7 |
80,932,555 (GRCm39) |
splice site |
probably null |
|
|
R4159:Pde8a
|
UTSW |
7 |
80,970,407 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4299:Pde8a
|
UTSW |
7 |
80,977,783 (GRCm39) |
missense |
probably benign |
|
|
R4544:Pde8a
|
UTSW |
7 |
80,977,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4545:Pde8a
|
UTSW |
7 |
80,977,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4561:Pde8a
|
UTSW |
7 |
80,958,568 (GRCm39) |
nonsense |
probably null |
|
|
R4562:Pde8a
|
UTSW |
7 |
80,958,568 (GRCm39) |
nonsense |
probably null |
|
|
R4563:Pde8a
|
UTSW |
7 |
80,958,568 (GRCm39) |
nonsense |
probably null |
|
|
R4615:Pde8a
|
UTSW |
7 |
80,970,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Pde8a
|
UTSW |
7 |
80,932,679 (GRCm39) |
missense |
probably benign |
|
|
R5396:Pde8a
|
UTSW |
7 |
80,983,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Pde8a
|
UTSW |
7 |
80,863,713 (GRCm39) |
missense |
probably benign |
|
|
R5892:Pde8a
|
UTSW |
7 |
80,945,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6621:Pde8a
|
UTSW |
7 |
80,942,878 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7067:Pde8a
|
UTSW |
7 |
80,967,074 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7163:Pde8a
|
UTSW |
7 |
80,956,456 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7483:Pde8a
|
UTSW |
7 |
80,932,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7606:Pde8a
|
UTSW |
7 |
80,982,715 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7876:Pde8a
|
UTSW |
7 |
80,973,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Pde8a
|
UTSW |
7 |
80,967,118 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8046:Pde8a
|
UTSW |
7 |
80,958,587 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8832:Pde8a
|
UTSW |
7 |
80,956,498 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9133:Pde8a
|
UTSW |
7 |
80,982,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9134:Pde8a
|
UTSW |
7 |
80,982,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Pde8a
|
UTSW |
7 |
80,982,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Pde8a
|
UTSW |
7 |
80,982,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Pde8a
|
UTSW |
7 |
80,982,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9341:Pde8a
|
UTSW |
7 |
80,950,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9343:Pde8a
|
UTSW |
7 |
80,950,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9354:Pde8a
|
UTSW |
7 |
80,982,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Pde8a
|
UTSW |
7 |
80,982,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Pde8a
|
UTSW |
7 |
80,942,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation