Incidental Mutation 'R4808:Pde8a'
ID |
370832 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde8a
|
Ensembl Gene |
ENSMUSG00000025584 |
Gene Name |
phosphodiesterase 8A |
Synonyms |
Pde8 |
MMRRC Submission |
042427-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4808 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80932679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 114
(T114A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
AlphaFold |
O88502 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026672
AA Change: T114A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026672 Gene: ENSMUSG00000025584 AA Change: T114A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
99% (71/72) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
Abi3bp |
A |
G |
16: 56,414,879 (GRCm39) |
D347G |
probably damaging |
Het |
Adora2a |
A |
G |
10: 75,169,280 (GRCm39) |
N248S |
probably damaging |
Het |
Agap3 |
T |
C |
5: 24,706,243 (GRCm39) |
F836L |
probably benign |
Het |
Arap2 |
G |
A |
5: 62,887,984 (GRCm39) |
T454M |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atm |
A |
G |
9: 53,356,795 (GRCm39) |
S2819P |
probably damaging |
Het |
Atp8b1 |
A |
G |
18: 64,694,782 (GRCm39) |
F500S |
probably benign |
Het |
Catsper1 |
G |
A |
19: 5,394,164 (GRCm39) |
D682N |
possibly damaging |
Het |
Chordc1 |
A |
G |
9: 18,203,709 (GRCm39) |
Y6C |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,088,756 (GRCm39) |
K273R |
probably damaging |
Het |
Crat |
T |
C |
2: 30,300,033 (GRCm39) |
I116V |
probably benign |
Het |
Cyp26a1 |
A |
G |
19: 37,689,573 (GRCm39) |
H423R |
probably benign |
Het |
Cyp4f40 |
A |
G |
17: 32,893,249 (GRCm39) |
E360G |
probably benign |
Het |
D430041D05Rik |
A |
C |
2: 104,031,455 (GRCm39) |
|
probably null |
Het |
Eif3i |
A |
T |
4: 129,485,857 (GRCm39) |
F323I |
probably benign |
Het |
Fam53a |
A |
G |
5: 33,765,023 (GRCm39) |
S228P |
probably damaging |
Het |
Gm10305 |
C |
T |
4: 99,161,481 (GRCm39) |
|
noncoding transcript |
Het |
Gm7347 |
C |
T |
5: 26,259,995 (GRCm39) |
R185H |
probably benign |
Het |
Golga2 |
G |
T |
2: 32,193,226 (GRCm39) |
A441S |
probably benign |
Het |
Gphn |
T |
A |
12: 78,701,654 (GRCm39) |
S608T |
probably benign |
Het |
Gramd1b |
A |
T |
9: 40,215,645 (GRCm39) |
V620E |
possibly damaging |
Het |
H2bc18 |
T |
G |
3: 96,177,329 (GRCm39) |
S88A |
probably benign |
Het |
H2-M9 |
T |
C |
17: 36,951,684 (GRCm39) |
T264A |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hsd3b6 |
G |
A |
3: 98,713,601 (GRCm39) |
H233Y |
probably damaging |
Het |
Ighv6-7 |
T |
A |
12: 114,419,341 (GRCm39) |
R88* |
probably null |
Het |
Jup |
C |
T |
11: 100,269,018 (GRCm39) |
R465H |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,699,278 (GRCm39) |
Y101N |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
Myocos |
T |
C |
1: 162,484,609 (GRCm39) |
|
probably benign |
Het |
Nav1 |
C |
T |
1: 135,382,942 (GRCm39) |
G1197S |
probably damaging |
Het |
Oas1g |
T |
G |
5: 121,017,385 (GRCm39) |
K223T |
possibly damaging |
Het |
Oprd1 |
G |
A |
4: 131,844,705 (GRCm39) |
T101M |
probably damaging |
Het |
Or14c40 |
A |
G |
7: 86,313,146 (GRCm39) |
D92G |
probably benign |
Het |
Or51g2 |
T |
C |
7: 102,623,118 (GRCm39) |
H27R |
probably damaging |
Het |
Pcdha7 |
G |
A |
18: 37,107,281 (GRCm39) |
C102Y |
probably damaging |
Het |
Pcx |
T |
A |
19: 4,670,956 (GRCm39) |
S1086T |
probably benign |
Het |
Pias4 |
A |
G |
10: 80,991,674 (GRCm39) |
|
probably null |
Het |
Pkn3 |
G |
A |
2: 29,980,093 (GRCm39) |
G750E |
probably damaging |
Het |
Pramel5 |
G |
A |
4: 143,999,325 (GRCm39) |
A254V |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,554,368 (GRCm39) |
L119P |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,160,190 (GRCm39) |
L395Q |
probably damaging |
Het |
Rbm19 |
T |
C |
5: 120,256,839 (GRCm39) |
S51P |
probably damaging |
Het |
Rfx5 |
A |
G |
3: 94,865,591 (GRCm39) |
T297A |
probably benign |
Het |
Scaf1 |
T |
C |
7: 44,658,063 (GRCm39) |
E272G |
probably damaging |
Het |
Slc24a2 |
G |
T |
4: 86,950,475 (GRCm39) |
Q396K |
probably benign |
Het |
Slc39a14 |
T |
C |
14: 70,553,250 (GRCm39) |
I162V |
probably damaging |
Het |
Snap25 |
A |
G |
2: 136,612,022 (GRCm39) |
D70G |
probably damaging |
Het |
Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
Sppl3 |
T |
A |
5: 115,221,485 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,428,095 (GRCm39) |
D314G |
probably damaging |
Het |
Steap1 |
G |
T |
5: 5,788,829 (GRCm39) |
|
probably benign |
Het |
Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
Tektl1 |
A |
T |
10: 78,588,698 (GRCm39) |
D37E |
probably benign |
Het |
Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
Uap1l1 |
A |
G |
2: 25,252,097 (GRCm39) |
S473P |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,546,896 (GRCm39) |
N882K |
probably benign |
Het |
Zfp536 |
A |
T |
7: 37,178,730 (GRCm39) |
C228S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCGATGAATGCTAATGTCTC -3'
(R):5'- TTTTGCATACAAGGAAAGGGC -3'
Sequencing Primer
(F):5'- CCGATGAATGCTAATGTCTCTGAGTC -3'
(R):5'- TTTTGCATACAAGGAAAGGGCGATTG -3'
|
Posted On |
2016-02-04 |