Incidental Mutation 'R9354:Pde8a'
ID |
708267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde8a
|
Ensembl Gene |
ENSMUSG00000025584 |
Gene Name |
phosphodiesterase 8A |
Synonyms |
Pde8 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9354 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 80982619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 746
(T746I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
AlphaFold |
O88502 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026672
AA Change: T746I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026672 Gene: ENSMUSG00000025584 AA Change: T746I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,436,873 (GRCm39) |
Q181R |
unknown |
Het |
Acsl1 |
T |
G |
8: 46,966,753 (GRCm39) |
C242G |
probably benign |
Het |
Agap2 |
A |
C |
10: 126,923,104 (GRCm39) |
N646T |
unknown |
Het |
Ankrd44 |
A |
T |
1: 54,687,438 (GRCm39) |
*994R |
probably null |
Het |
Apol7c |
C |
T |
15: 77,410,112 (GRCm39) |
R278H |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,921,401 (GRCm39) |
E2166G |
probably benign |
Het |
Caskin2 |
G |
A |
11: 115,693,468 (GRCm39) |
T528M |
probably damaging |
Het |
Ccdc30 |
G |
T |
4: 119,230,850 (GRCm39) |
P15Q |
possibly damaging |
Het |
Cemip2 |
A |
G |
19: 21,779,389 (GRCm39) |
S400G |
probably benign |
Het |
Cenpf |
G |
A |
1: 189,379,114 (GRCm39) |
T45I |
|
Het |
Cep68 |
T |
C |
11: 20,188,569 (GRCm39) |
E612G |
probably damaging |
Het |
Chpf2 |
T |
C |
5: 24,796,392 (GRCm39) |
L446P |
probably damaging |
Het |
Ctsl |
A |
T |
13: 64,516,850 (GRCm39) |
Y40N |
probably damaging |
Het |
Dis3l |
T |
C |
9: 64,221,922 (GRCm39) |
N496S |
probably benign |
Het |
Espnl |
A |
T |
1: 91,272,323 (GRCm39) |
D561V |
probably benign |
Het |
Flnb |
T |
A |
14: 7,818,411 (GRCm38) |
L87Q |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,232,825 (GRCm39) |
I276F |
possibly damaging |
Het |
Gid4 |
G |
T |
11: 60,308,618 (GRCm39) |
R46L |
probably benign |
Het |
Gper1 |
G |
A |
5: 139,412,029 (GRCm39) |
D125N |
possibly damaging |
Het |
Gpr146 |
A |
G |
5: 139,378,366 (GRCm39) |
N56S |
probably benign |
Het |
Grhpr |
G |
T |
4: 44,981,465 (GRCm39) |
R5L |
probably benign |
Het |
Gstm6 |
A |
T |
3: 107,850,018 (GRCm39) |
N59K |
probably damaging |
Het |
Hdac7 |
A |
T |
15: 97,694,769 (GRCm39) |
F802L |
probably damaging |
Het |
Igfbpl1 |
A |
T |
4: 45,816,348 (GRCm39) |
V159D |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,237,668 (GRCm39) |
S351G |
possibly damaging |
Het |
Itgad |
C |
A |
7: 127,785,146 (GRCm39) |
H354Q |
probably damaging |
Het |
Jmjd1c |
T |
C |
10: 67,059,875 (GRCm39) |
S641P |
probably damaging |
Het |
Klhl33 |
T |
C |
14: 51,130,385 (GRCm39) |
T110A |
probably benign |
Het |
Lcorl |
T |
A |
5: 45,890,968 (GRCm39) |
K545* |
probably null |
Het |
Lilra6 |
A |
G |
7: 3,914,628 (GRCm39) |
S546P |
probably damaging |
Het |
Ly6c1 |
T |
A |
15: 74,916,471 (GRCm39) |
I124F |
probably benign |
Het |
Map4 |
A |
G |
9: 109,897,847 (GRCm39) |
T858A |
probably benign |
Het |
Marchf5 |
G |
T |
19: 37,185,264 (GRCm39) |
|
probably benign |
Het |
Muc2 |
A |
G |
7: 141,307,157 (GRCm39) |
K769E |
|
Het |
Myh6 |
T |
A |
14: 55,200,992 (GRCm39) |
I157F |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,563,994 (GRCm39) |
V389A |
probably benign |
Het |
Or52b3 |
G |
A |
7: 102,204,397 (GRCm39) |
R302H |
possibly damaging |
Het |
Pcdhgc4 |
A |
G |
18: 37,949,640 (GRCm39) |
H352R |
probably benign |
Het |
Pick1 |
T |
C |
15: 79,123,848 (GRCm39) |
V73A |
probably damaging |
Het |
Ppwd1 |
C |
T |
13: 104,342,080 (GRCm39) |
V625I |
probably benign |
Het |
Prss59 |
A |
G |
6: 40,905,473 (GRCm39) |
V61A |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,099,986 (GRCm39) |
E1830G |
probably benign |
Het |
Ralgapb |
A |
G |
2: 158,279,313 (GRCm39) |
N445S |
possibly damaging |
Het |
Rapgef6 |
G |
T |
11: 54,510,749 (GRCm39) |
R222L |
possibly damaging |
Het |
Rorc |
A |
T |
3: 94,280,170 (GRCm39) |
|
probably benign |
Het |
Rps6ka1 |
A |
C |
4: 133,594,432 (GRCm39) |
|
probably null |
Het |
Sdk2 |
T |
C |
11: 113,725,757 (GRCm39) |
Y1164C |
probably benign |
Het |
Sema5a |
T |
A |
15: 32,562,902 (GRCm39) |
Y304* |
probably null |
Het |
Slc26a4 |
A |
T |
12: 31,585,255 (GRCm39) |
V513D |
possibly damaging |
Het |
Slf2 |
T |
A |
19: 44,936,471 (GRCm39) |
D705E |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,934,905 (GRCm39) |
T704A |
probably benign |
Het |
Tex15 |
C |
G |
8: 34,063,344 (GRCm39) |
Q925E |
possibly damaging |
Het |
Trim38 |
A |
T |
13: 23,969,875 (GRCm39) |
T145S |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,425,696 (GRCm39) |
C17Y |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,701,027 (GRCm39) |
Y999H |
probably benign |
Het |
Vat1 |
A |
C |
11: 101,351,441 (GRCm39) |
M300R |
probably benign |
Het |
Vmn1r85 |
T |
A |
7: 12,818,725 (GRCm39) |
I140F |
probably damaging |
Het |
Vmn2r57 |
T |
C |
7: 41,049,663 (GRCm39) |
I695M |
probably benign |
Het |
Wnk1 |
C |
T |
6: 119,942,660 (GRCm39) |
R789Q |
unknown |
Het |
Zswim5 |
G |
A |
4: 116,844,232 (GRCm39) |
G1090D |
probably damaging |
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 |
|
IGL02528:Pde8a
|
APN |
7 |
80,942,937 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAATGTTTGGGGTGTCCTCAG -3'
(R):5'- AACCCTCCGGAATGACTACTTTC -3'
Sequencing Primer
(F):5'- AGGGTTCTCACTCTGGGAC -3'
(R):5'- ATGCTTCTTCCTAACTAGTGGTGAC -3'
|
Posted On |
2022-04-18 |