Incidental Mutation 'R8046:Pde8a'
| ID |
618754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde8a
|
| Ensembl Gene |
ENSMUSG00000025584 |
| Gene Name |
phosphodiesterase 8A |
| Synonyms |
Pde8 |
| MMRRC Submission |
067483-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80967118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 420
(T420S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
| AlphaFold |
O88502 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026672
AA Change: T420S
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: T420S
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
T |
5: 77,044,325 (GRCm39) |
D188E |
probably benign |
Het |
| Ahcyl2 |
T |
C |
6: 29,878,619 (GRCm39) |
L273P |
probably damaging |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,359,752 (GRCm39) |
T227A |
probably benign |
Het |
| Ankle1 |
C |
T |
8: 71,860,665 (GRCm39) |
T374M |
probably damaging |
Het |
| Arhgap18 |
T |
C |
10: 26,763,853 (GRCm39) |
V481A |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 66,184,587 (GRCm39) |
L170* |
probably null |
Het |
| Bms1 |
T |
C |
6: 118,385,105 (GRCm39) |
T368A |
probably benign |
Het |
| Boll |
A |
G |
1: 55,385,562 (GRCm39) |
I121T |
probably damaging |
Het |
| Brca1 |
A |
C |
11: 101,416,296 (GRCm39) |
C613G |
probably benign |
Het |
| Cdk14 |
T |
A |
5: 5,299,159 (GRCm39) |
I65F |
possibly damaging |
Het |
| Chn1 |
T |
C |
2: 73,448,363 (GRCm39) |
D335G |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,613,508 (GRCm39) |
|
probably null |
Het |
| Cplane2 |
A |
C |
4: 140,947,348 (GRCm39) |
Q243P |
probably damaging |
Het |
| Crtac1 |
T |
C |
19: 42,297,492 (GRCm39) |
|
probably benign |
Het |
| Dhx40 |
A |
T |
11: 86,675,766 (GRCm39) |
C507* |
probably null |
Het |
| Dok2 |
A |
G |
14: 71,015,482 (GRCm39) |
D403G |
probably damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,335 (GRCm39) |
D98G |
probably benign |
Het |
| Eif2b5 |
A |
G |
16: 20,325,154 (GRCm39) |
T556A |
possibly damaging |
Het |
| Eml6 |
A |
T |
11: 29,708,981 (GRCm39) |
V1480E |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Glra1 |
A |
G |
11: 55,427,225 (GRCm39) |
S120P |
probably damaging |
Het |
| Habp4 |
T |
C |
13: 64,322,656 (GRCm39) |
S242P |
probably benign |
Het |
| Igkv12-46 |
A |
G |
6: 69,741,570 (GRCm39) |
I95T |
probably damaging |
Het |
| Itch |
G |
T |
2: 155,052,422 (GRCm39) |
G674V |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,327,957 (GRCm39) |
L92P |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 188,990,933 (GRCm39) |
|
probably null |
Het |
| Krt75 |
T |
C |
15: 101,481,199 (GRCm39) |
T192A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,159,199 (GRCm39) |
K1694N |
|
Het |
| Lrrc14 |
A |
G |
15: 76,598,731 (GRCm39) |
K456E |
possibly damaging |
Het |
| Map1lc3a |
G |
T |
2: 155,119,129 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,358,741 (GRCm39) |
M832L |
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,703,798 (GRCm39) |
T263A |
probably benign |
Het |
| Nnt |
A |
T |
13: 119,511,286 (GRCm39) |
M330K |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,308,683 (GRCm39) |
N1711D |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,135 (GRCm39) |
N285D |
possibly damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
| Or51ab3 |
T |
A |
7: 103,201,584 (GRCm39) |
S197R |
possibly damaging |
Het |
| Or8b8 |
A |
T |
9: 37,808,685 (GRCm39) |
|
probably benign |
Het |
| Pag1 |
A |
G |
3: 9,764,482 (GRCm39) |
Y224H |
probably damaging |
Het |
| Per2 |
A |
C |
1: 91,363,425 (GRCm39) |
L365R |
possibly damaging |
Het |
| Pml |
A |
G |
9: 58,154,256 (GRCm39) |
|
probably null |
Het |
| Ppp1r1a |
T |
A |
15: 103,446,305 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ppp3r2 |
G |
T |
4: 49,681,913 (GRCm39) |
C12* |
probably null |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Scyl1 |
C |
T |
19: 5,810,620 (GRCm39) |
R531Q |
possibly damaging |
Het |
| Skp2 |
C |
A |
15: 9,139,687 (GRCm39) |
V38F |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,296,974 (GRCm39) |
C42R |
probably damaging |
Het |
| Tekt5 |
A |
G |
16: 10,213,277 (GRCm39) |
F3L |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,513 (GRCm39) |
K32R |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,676,132 (GRCm39) |
R350W |
probably damaging |
Het |
| Tph2 |
A |
T |
10: 115,015,499 (GRCm39) |
I121N |
possibly damaging |
Het |
| Trim37 |
A |
G |
11: 87,037,794 (GRCm39) |
D176G |
possibly damaging |
Het |
| Trpc4 |
A |
T |
3: 54,102,335 (GRCm39) |
I78F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,609,829 (GRCm39) |
K17526E |
probably damaging |
Het |
| Tuba8 |
A |
C |
6: 121,199,832 (GRCm39) |
Y172S |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Urb2 |
A |
T |
8: 124,754,771 (GRCm39) |
R159S |
possibly damaging |
Het |
| Usp25 |
T |
A |
16: 76,906,063 (GRCm39) |
C840S |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,692,964 (GRCm39) |
K304* |
probably null |
Het |
| Vmn1r37 |
C |
A |
6: 66,708,656 (GRCm39) |
T94N |
probably damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,614,479 (GRCm39) |
N445S |
probably damaging |
Het |
| Wnk4 |
G |
A |
11: 101,164,918 (GRCm39) |
G749D |
probably benign |
Het |
| Wscd2 |
G |
A |
5: 113,689,176 (GRCm39) |
V61I |
probably benign |
Het |
| Zfp85 |
T |
A |
13: 67,897,098 (GRCm39) |
R325* |
probably null |
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 |
80,958,587 (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'- TAACGTGTGTCTGTGGCAC -3'
(R):5'- AGTAGCCTAGGAGATGGACTTACAG -3'
Sequencing Primer
(F):5'- CGTGTGTCTGTGGCACAATCAC -3'
(R):5'- GAGATGGACTTACAGACATTAAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation