Incidental Mutation 'R0547:Pde8a'
| ID |
44901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde8a
|
| Ensembl Gene |
ENSMUSG00000025584 |
| Gene Name |
phosphodiesterase 8A |
| Synonyms |
Pde8 |
| MMRRC Submission |
038739-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0547 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80973878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 612
(V612L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
| AlphaFold |
O88502 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026672
AA Change: V612L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: V612L
| 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: ENSMUST00000130494
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
98% (57/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,498 (GRCm39) |
Y181H |
probably benign |
Het |
| A530084C06Rik |
A |
G |
13: 31,742,813 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,274,592 (GRCm39) |
D1208G |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,504,757 (GRCm39) |
F501S |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,349,201 (GRCm39) |
D656N |
probably damaging |
Het |
| Atr |
A |
T |
9: 95,781,218 (GRCm39) |
|
probably benign |
Het |
| Bicra |
G |
A |
7: 15,706,173 (GRCm39) |
R1423W |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Cdon |
A |
T |
9: 35,368,794 (GRCm39) |
T343S |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,777,181 (GRCm39) |
|
probably null |
Het |
| Cimap1a |
A |
G |
7: 140,428,728 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
C |
1: 171,949,254 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,749,854 (GRCm39) |
D265G |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,654,157 (GRCm39) |
C759S |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,021,757 (GRCm39) |
M3470V |
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,677,500 (GRCm39) |
N177S |
probably damaging |
Het |
| Etfb |
C |
T |
7: 43,104,002 (GRCm39) |
Q145* |
probably null |
Het |
| Flnb |
T |
A |
14: 7,912,943 (GRCm38) |
|
probably null |
Het |
| G430095P16Rik |
G |
A |
8: 85,453,271 (GRCm39) |
|
probably benign |
Het |
| Gfral |
A |
T |
9: 76,115,924 (GRCm39) |
S17T |
probably benign |
Het |
| Gpr26 |
T |
C |
7: 131,586,026 (GRCm39) |
I332T |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,773,412 (GRCm39) |
T221S |
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,358,508 (GRCm39) |
S289T |
probably damaging |
Het |
| Ighv6-4 |
T |
C |
12: 114,370,221 (GRCm39) |
Y77C |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,685 (GRCm39) |
D548E |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,463,235 (GRCm39) |
F86Y |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,480,210 (GRCm39) |
M424K |
probably benign |
Het |
| Jam3 |
A |
G |
9: 27,010,184 (GRCm39) |
Y267H |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,510,990 (GRCm39) |
N326S |
unknown |
Het |
| Mms19 |
A |
T |
19: 41,951,857 (GRCm39) |
M160K |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Mup5 |
A |
G |
4: 61,751,237 (GRCm39) |
L137P |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,022,184 (GRCm39) |
S413N |
probably damaging |
Het |
| Nuak2 |
C |
A |
1: 132,259,941 (GRCm39) |
T573N |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,575 (GRCm39) |
I239K |
probably benign |
Het |
| Or52h9 |
G |
A |
7: 104,202,563 (GRCm39) |
V146M |
probably benign |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
A |
5: 14,842,086 (GRCm39) |
I4787N |
unknown |
Het |
| Pear1 |
A |
T |
3: 87,696,107 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
A |
G |
13: 21,607,688 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,786,448 (GRCm39) |
|
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,783,879 (GRCm39) |
|
probably null |
Het |
| Rsph9 |
A |
T |
17: 46,455,050 (GRCm39) |
S9T |
possibly damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,612,876 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,996,189 (GRCm39) |
E756G |
probably damaging |
Het |
| Serpina1e |
G |
T |
12: 103,915,450 (GRCm39) |
T252K |
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,484,510 (GRCm39) |
S1555T |
probably benign |
Het |
| Slain1 |
T |
C |
14: 103,932,711 (GRCm39) |
S432P |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,144,418 (GRCm39) |
|
probably null |
Het |
| Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,943,907 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,470,842 (GRCm39) |
T944A |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,684,774 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,973,331 (GRCm39) |
S323P |
possibly damaging |
Het |
| Zfp827 |
A |
G |
8: 79,786,939 (GRCm39) |
N35S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGTTGTTCTGTCAGCCAAGCAC -3'
(R):5'- TGTTCATCTCCAGATGCAGGTTCG -3'
Sequencing Primer
(F):5'- ACAGGATCTGCTCAGATAATGTG -3'
(R):5'- CGGGCTGGGTCAGCATC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation