Incidental Mutation 'IGL02738:Pde8a'
| ID |
305773 |
| 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 # |
IGL02738
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 80976090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 677
(N677H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
| AlphaFold |
O88502 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026672
AA Change: N677H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: N677H
| 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 |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
A |
T |
2: 150,466,792 (GRCm39) |
|
probably benign |
Het |
| Akr1c21 |
A |
T |
13: 4,630,300 (GRCm39) |
N198Y |
probably damaging |
Het |
| Anapc11 |
A |
T |
11: 120,490,102 (GRCm39) |
K6I |
probably benign |
Het |
| Angel1 |
G |
A |
12: 86,752,060 (GRCm39) |
L554F |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,663,320 (GRCm39) |
*988K |
probably null |
Het |
| Arnt |
T |
A |
3: 95,402,631 (GRCm39) |
|
probably null |
Het |
| Atp1a3 |
T |
A |
7: 24,689,901 (GRCm39) |
D519V |
possibly damaging |
Het |
| Bdp1 |
C |
A |
13: 100,187,861 (GRCm39) |
A1575S |
probably benign |
Het |
| Bglap |
G |
A |
3: 88,291,715 (GRCm39) |
T3I |
unknown |
Het |
| Brca2 |
C |
T |
5: 150,490,500 (GRCm39) |
P3054L |
probably damaging |
Het |
| Btn2a2 |
C |
A |
13: 23,662,976 (GRCm39) |
E316* |
probably null |
Het |
| C1qtnf9 |
C |
T |
14: 61,017,388 (GRCm39) |
T306I |
probably benign |
Het |
| Caprin2 |
T |
C |
6: 148,744,360 (GRCm39) |
T1022A |
probably damaging |
Het |
| Cd109 |
T |
C |
9: 78,598,581 (GRCm39) |
Y940H |
probably damaging |
Het |
| Cd300ld |
A |
G |
11: 114,875,076 (GRCm39) |
L186S |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,807,618 (GRCm39) |
S1865R |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,386,889 (GRCm39) |
V345A |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 31,014,597 (GRCm39) |
E1756A |
probably benign |
Het |
| Dnah3 |
C |
T |
7: 119,564,720 (GRCm39) |
A2637T |
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,782,122 (GRCm39) |
F80S |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,619,322 (GRCm39) |
I439V |
possibly damaging |
Het |
| Eva1a |
T |
G |
6: 82,048,211 (GRCm39) |
S30A |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,887,648 (GRCm39) |
L516P |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,780,989 (GRCm39) |
|
probably benign |
Het |
| Hexim2 |
T |
C |
11: 103,029,103 (GRCm39) |
S52P |
probably damaging |
Het |
| Hoxb9 |
A |
T |
11: 96,165,554 (GRCm39) |
M208L |
possibly damaging |
Het |
| Lbr |
A |
G |
1: 181,659,778 (GRCm39) |
V139A |
probably benign |
Het |
| Lcn10 |
G |
A |
2: 25,574,032 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
A |
G |
8: 26,076,789 (GRCm39) |
I271T |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,685,441 (GRCm39) |
S303G |
possibly damaging |
Het |
| Matn2 |
C |
A |
15: 34,388,885 (GRCm39) |
A325D |
probably benign |
Het |
| Mboat4 |
T |
C |
8: 34,582,258 (GRCm39) |
L4P |
probably damaging |
Het |
| Mmp1a |
T |
A |
9: 7,464,301 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,325,685 (GRCm39) |
R74S |
probably benign |
Het |
| Neb |
G |
T |
2: 52,133,862 (GRCm39) |
Q3374K |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,044,157 (GRCm39) |
E486G |
possibly damaging |
Het |
| Or4b13 |
A |
G |
2: 90,082,699 (GRCm39) |
I211T |
possibly damaging |
Het |
| Or4k51 |
A |
C |
2: 111,584,699 (GRCm39) |
Y35S |
probably damaging |
Het |
| Or5m12 |
A |
G |
2: 85,735,293 (GRCm39) |
V35A |
probably benign |
Het |
| Or6c69 |
A |
T |
10: 129,747,200 (GRCm39) |
|
probably benign |
Het |
| Plag1 |
G |
A |
4: 3,903,812 (GRCm39) |
Q460* |
probably null |
Het |
| Podnl1 |
A |
G |
8: 84,858,824 (GRCm39) |
T550A |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,781,382 (GRCm39) |
|
probably benign |
Het |
| Pycr3 |
A |
T |
15: 75,790,565 (GRCm39) |
I98N |
probably damaging |
Het |
| Rtn4r |
A |
G |
16: 17,969,052 (GRCm39) |
Y160C |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,701,238 (GRCm39) |
N343S |
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,836,940 (GRCm39) |
Y43H |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,365,348 (GRCm39) |
L145Q |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,658,600 (GRCm39) |
S22T |
probably benign |
Het |
| Sugp2 |
G |
T |
8: 70,696,449 (GRCm39) |
G474V |
probably damaging |
Het |
| Syt3 |
C |
T |
7: 44,035,447 (GRCm39) |
S18L |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,691,159 (GRCm39) |
E48G |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,931,337 (GRCm39) |
V2083A |
probably benign |
Het |
| Thra |
A |
T |
11: 98,655,185 (GRCm39) |
H355L |
probably benign |
Het |
| Tmem35b |
C |
T |
4: 127,019,981 (GRCm39) |
Q34* |
probably null |
Het |
| Unk |
G |
T |
11: 115,947,017 (GRCm39) |
G537V |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,974,632 (GRCm39) |
D92V |
probably damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,990,290 (GRCm39) |
Y133* |
probably null |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,630 (GRCm39) |
V313A |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,780,520 (GRCm39) |
I503V |
probably benign |
Het |
| Vwa2 |
G |
A |
19: 56,886,361 (GRCm39) |
G143R |
possibly 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 |
|
|
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