Incidental Mutation 'R9166:Pde8a'
| ID |
696063 |
| 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 # |
R9166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,853,046 (GRCm39) |
L30P |
possibly damaging |
Het |
| Adgrb1 |
A |
C |
15: 74,420,475 (GRCm39) |
M875L |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd13c |
T |
A |
3: 157,705,357 (GRCm39) |
S427T |
probably benign |
Het |
| Aopep |
G |
A |
13: 63,318,862 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
C |
13: 94,608,236 (GRCm39) |
Y569S |
probably damaging |
Het |
| Bco2 |
A |
G |
9: 50,447,667 (GRCm39) |
V352A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,516 (GRCm39) |
N2630K |
probably damaging |
Het |
| Cacnb1 |
T |
A |
11: 97,910,534 (GRCm39) |
D48V |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,537 (GRCm39) |
Q132K |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,554,572 (GRCm39) |
M377T |
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,109,365 (GRCm39) |
T228A |
unknown |
Het |
| D7Ertd443e |
G |
A |
7: 133,900,048 (GRCm39) |
T438I |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,066,589 (GRCm39) |
E15K |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,206 (GRCm39) |
R109Q |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,126,959 (GRCm39) |
V1359A |
probably damaging |
Het |
| E2f7 |
C |
T |
10: 110,618,085 (GRCm39) |
P717S |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,132,438 (GRCm39) |
D669G |
probably benign |
Het |
| Epha6 |
A |
G |
16: 60,425,238 (GRCm39) |
V125A |
probably benign |
Het |
| Erg |
G |
T |
16: 95,190,807 (GRCm39) |
H119N |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,595,252 (GRCm39) |
S371G |
probably benign |
Het |
| Fancg |
G |
C |
4: 43,006,800 (GRCm39) |
Q297E |
probably benign |
Het |
| Gas2 |
A |
G |
7: 51,586,323 (GRCm39) |
E145G |
possibly damaging |
Het |
| Gas7 |
T |
C |
11: 67,561,446 (GRCm39) |
V218A |
probably benign |
Het |
| Gm9970 |
A |
G |
5: 31,398,345 (GRCm39) |
S78P |
unknown |
Het |
| Hectd4 |
A |
C |
5: 121,446,690 (GRCm39) |
D259A |
probably damaging |
Het |
| Hoxb2 |
T |
G |
11: 96,244,339 (GRCm39) |
S317A |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,270,185 (GRCm39) |
L2381P |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,484 (GRCm39) |
H280L |
probably benign |
Het |
| Irf7 |
A |
G |
7: 140,844,666 (GRCm39) |
V142A |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,190,928 (GRCm39) |
I94V |
probably benign |
Het |
| Kera |
T |
A |
10: 97,448,830 (GRCm39) |
I350K |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,952 (GRCm39) |
S176P |
probably benign |
Het |
| Lrrc59 |
C |
A |
11: 94,522,959 (GRCm39) |
T53N |
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,945,024 (GRCm39) |
Y83H |
probably damaging |
Het |
| Myef2l |
A |
G |
3: 10,153,849 (GRCm39) |
N206S |
probably benign |
Het |
| Neil3 |
A |
C |
8: 54,058,722 (GRCm39) |
M273R |
probably damaging |
Het |
| Ngfr |
A |
T |
11: 95,465,047 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nudc |
T |
C |
4: 133,273,165 (GRCm39) |
D11G |
probably damaging |
Het |
| Or2t1 |
A |
T |
14: 14,329,059 (GRCm38) |
D316V |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,619,291 (GRCm39) |
N135I |
probably damaging |
Het |
| Pik3cg |
C |
T |
12: 32,242,213 (GRCm39) |
G966R |
probably damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,920,980 (GRCm39) |
T573A |
probably damaging |
Het |
| Ppp2r5a |
C |
A |
1: 191,128,504 (GRCm39) |
R37L |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,340 (GRCm39) |
F1207S |
possibly damaging |
Het |
| Prtg |
A |
T |
9: 72,764,107 (GRCm39) |
I527F |
probably damaging |
Het |
| Pspc1 |
A |
G |
14: 56,999,305 (GRCm39) |
M317T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,525,180 (GRCm39) |
V768I |
probably benign |
Het |
| Ptx4 |
A |
G |
17: 25,343,546 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
T |
C |
2: 158,274,842 (GRCm39) |
|
probably null |
Het |
| Rhobtb2 |
C |
A |
14: 70,034,703 (GRCm39) |
G174V |
probably damaging |
Het |
| Sdad1 |
G |
T |
5: 92,446,080 (GRCm39) |
S285* |
probably null |
Het |
| Sema4f |
G |
T |
6: 82,890,626 (GRCm39) |
S727* |
probably null |
Het |
| Sik1 |
A |
G |
17: 32,069,727 (GRCm39) |
F241L |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,662,096 (GRCm39) |
S279P |
probably benign |
Het |
| Slco4a1 |
A |
G |
2: 180,106,034 (GRCm39) |
E72G |
probably benign |
Het |
| Smok3c |
A |
T |
5: 138,063,781 (GRCm39) |
T423S |
possibly damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,784,811 (GRCm39) |
V1078A |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,673,776 (GRCm39) |
V337A |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,173,933 (GRCm39) |
G1443V |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,694,048 (GRCm39) |
L13H |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,786,624 (GRCm39) |
E1562G |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,074 (GRCm39) |
K742N |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,142,751 (GRCm39) |
V255E |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,608 (GRCm39) |
E2G |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,452,091 (GRCm39) |
T353S |
probably benign |
Het |
| Vim |
T |
C |
2: 13,579,556 (GRCm39) |
V105A |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,431 (GRCm39) |
V404E |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,941,874 (GRCm39) |
P1115L |
probably damaging |
Het |
| Wfdc12 |
G |
T |
2: 164,032,193 (GRCm39) |
C32* |
probably null |
Het |
| Zfp750 |
T |
A |
11: 121,403,980 (GRCm39) |
R298S |
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 |
|
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'- ACAGGACCTGAGAGACATTAGC -3'
(R):5'- TGCTTCTTCCTAACTAGTGGTGAC -3'
Sequencing Primer
(F):5'- GCTTCCAGCTATGAAAATGTTTGG -3'
(R):5'- CCTAACTAGTGGTGACTCTTAAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation