Incidental Mutation 'R4615:Pde8a'
ID |
345024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde8a
|
Ensembl Gene |
ENSMUSG00000025584 |
Gene Name |
phosphodiesterase 8A |
Synonyms |
Pde8 |
MMRRC Submission |
041826-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4615 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80970485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 536
(W536R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
AlphaFold |
O88502 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026672
AA Change: W536R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026672 Gene: ENSMUSG00000025584 AA Change: W536R
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
Abcc9 |
C |
G |
6: 142,634,833 (GRCm39) |
A144P |
possibly damaging |
Het |
Adgrv1 |
C |
T |
13: 81,642,688 (GRCm39) |
|
probably null |
Het |
Adprhl1 |
A |
G |
8: 13,292,250 (GRCm39) |
|
probably null |
Het |
Angptl3 |
A |
T |
4: 98,919,598 (GRCm39) |
E119D |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,686,170 (GRCm39) |
N671S |
probably null |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,421,706 (GRCm39) |
D1019G |
possibly damaging |
Het |
Cdh8 |
A |
T |
8: 100,006,254 (GRCm39) |
I111K |
probably damaging |
Het |
Cep120 |
T |
C |
18: 53,847,913 (GRCm39) |
R649G |
probably damaging |
Het |
Clptm1l |
A |
T |
13: 73,755,857 (GRCm39) |
K158* |
probably null |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Cnga1 |
A |
C |
5: 72,762,117 (GRCm39) |
L466V |
probably damaging |
Het |
Cpsf1 |
T |
C |
15: 76,481,137 (GRCm39) |
T1240A |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,433,560 (GRCm39) |
S1117P |
probably damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,900,550 (GRCm39) |
L396Q |
probably damaging |
Het |
Cyp8b1 |
A |
T |
9: 121,745,164 (GRCm39) |
L56* |
probably null |
Het |
Dcbld2 |
A |
G |
16: 58,276,457 (GRCm39) |
T458A |
probably benign |
Het |
Dio2 |
G |
T |
12: 90,696,595 (GRCm39) |
P131Q |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,208,236 (GRCm39) |
Y990C |
probably damaging |
Het |
Dsc3 |
T |
C |
18: 20,104,545 (GRCm39) |
D594G |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,375,608 (GRCm39) |
E1131G |
probably damaging |
Het |
Fdx1 |
A |
T |
9: 51,859,945 (GRCm39) |
Y21* |
probably null |
Het |
Gal3st4 |
A |
G |
5: 138,264,525 (GRCm39) |
V158A |
probably damaging |
Het |
Gm10269 |
T |
A |
18: 20,815,820 (GRCm39) |
E67D |
probably benign |
Het |
Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
Gng2 |
C |
T |
14: 19,941,395 (GRCm39) |
V16I |
possibly damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Itprid2 |
A |
G |
2: 79,492,726 (GRCm39) |
E1091G |
probably damaging |
Het |
Lama2 |
C |
A |
10: 26,857,520 (GRCm39) |
V3110F |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
Ncapg |
A |
T |
5: 45,844,741 (GRCm39) |
M579L |
probably benign |
Het |
Oog3 |
A |
T |
4: 143,884,899 (GRCm39) |
Y346N |
probably benign |
Het |
Or10ak14 |
T |
C |
4: 118,611,334 (GRCm39) |
T134A |
probably benign |
Het |
Or14c39 |
T |
C |
7: 86,343,936 (GRCm39) |
S91P |
probably damaging |
Het |
Orm2 |
A |
G |
4: 63,281,536 (GRCm39) |
D89G |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,441,553 (GRCm39) |
S288T |
probably benign |
Het |
Pcsk2 |
G |
T |
2: 143,637,889 (GRCm39) |
C375F |
probably damaging |
Het |
Pdcd10 |
T |
C |
3: 75,428,398 (GRCm39) |
I138M |
probably damaging |
Het |
Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
Plcl1 |
A |
T |
1: 55,737,293 (GRCm39) |
N878I |
probably benign |
Het |
Prkdc |
A |
T |
16: 15,480,938 (GRCm39) |
D353V |
probably damaging |
Het |
Psme4 |
C |
T |
11: 30,784,287 (GRCm39) |
T954I |
probably benign |
Het |
Ran |
A |
G |
5: 129,099,162 (GRCm39) |
I115V |
probably benign |
Het |
Reln |
A |
G |
5: 22,177,870 (GRCm39) |
L1867P |
possibly damaging |
Het |
S100a1 |
A |
G |
3: 90,418,562 (GRCm39) |
V84A |
possibly damaging |
Het |
Sall2 |
G |
A |
14: 52,550,207 (GRCm39) |
P994L |
probably benign |
Het |
Shtn1 |
A |
T |
19: 59,010,648 (GRCm39) |
I273N |
probably benign |
Het |
Slc17a9 |
T |
C |
2: 180,373,699 (GRCm39) |
I40T |
probably benign |
Het |
Slc29a2 |
T |
C |
19: 5,079,292 (GRCm39) |
V305A |
probably damaging |
Het |
Taar2 |
T |
A |
10: 23,817,263 (GRCm39) |
F268I |
probably benign |
Het |
Taf3 |
G |
A |
2: 9,956,901 (GRCm39) |
T422I |
probably damaging |
Het |
Tgs1 |
T |
C |
4: 3,585,156 (GRCm39) |
F99L |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,597,219 (GRCm39) |
I19898T |
probably damaging |
Het |
Ulk1 |
G |
T |
5: 110,936,912 (GRCm39) |
T3N |
probably damaging |
Het |
Vars1 |
A |
T |
17: 35,232,857 (GRCm39) |
K900N |
probably damaging |
Het |
Vmn2r15 |
A |
G |
5: 109,441,348 (GRCm39) |
V170A |
possibly damaging |
Het |
Vmn2r53 |
A |
T |
7: 12,316,229 (GRCm39) |
L530Q |
probably damaging |
Het |
Zar1l |
G |
T |
5: 150,441,528 (GRCm39) |
Q33K |
probably benign |
Het |
Zdhhc16 |
T |
C |
19: 41,932,122 (GRCm39) |
V358A |
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 |
|
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 |
|
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'- GATCAGTTGCCCTGGTACTCTG -3'
(R):5'- ACTCTGGTTATTACGGTGCAG -3'
Sequencing Primer
(F):5'- CTCTGCACTGTGGCTTGAATGTAC -3'
(R):5'- ATTACGGTGCAGTGAGGGC -3'
|
Posted On |
2015-09-25 |