Incidental Mutation 'R7067:Pde8a'
ID |
548632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde8a
|
Ensembl Gene |
ENSMUSG00000025584 |
Gene Name |
phosphodiesterase 8A |
Synonyms |
Pde8 |
MMRRC Submission |
045163-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7067 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80967074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 405
(V405A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
AlphaFold |
O88502 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026672
AA Change: V405A
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000026672 Gene: ENSMUSG00000025584 AA Change: V405A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (62/63) |
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 |
4932438H23Rik |
T |
A |
16: 90,852,921 (GRCm39) |
S72C |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,241,845 (GRCm39) |
D1236G |
probably benign |
Het |
Abcc6 |
T |
C |
7: 45,668,114 (GRCm39) |
N165D |
probably benign |
Het |
Aebp1 |
A |
G |
11: 5,816,431 (GRCm39) |
|
probably null |
Het |
Afg2a |
C |
T |
3: 37,485,847 (GRCm39) |
Q190* |
probably null |
Het |
Anapc4 |
A |
G |
5: 53,019,577 (GRCm39) |
T580A |
probably benign |
Het |
Apob |
T |
C |
12: 8,059,423 (GRCm39) |
I2602T |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,811,387 (GRCm39) |
|
probably null |
Het |
Asap3 |
T |
A |
4: 135,968,673 (GRCm39) |
|
probably null |
Het |
Bend4 |
A |
G |
5: 67,557,611 (GRCm39) |
Y402H |
probably damaging |
Het |
Ccn2 |
A |
G |
10: 24,472,873 (GRCm39) |
Y261C |
probably benign |
Het |
Crtc2 |
A |
G |
3: 90,167,489 (GRCm39) |
N271S |
probably benign |
Het |
Csf2rb2 |
A |
T |
15: 78,176,694 (GRCm39) |
W233R |
probably damaging |
Het |
Cyp2u1 |
G |
A |
3: 131,087,202 (GRCm39) |
L460F |
probably damaging |
Het |
Dnm3 |
A |
G |
1: 162,148,540 (GRCm39) |
L277P |
probably damaging |
Het |
Efemp1 |
A |
T |
11: 28,817,926 (GRCm39) |
N135I |
probably damaging |
Het |
Elapor2 |
G |
T |
5: 9,316,295 (GRCm39) |
A9S |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,811,078 (GRCm39) |
S2466T |
possibly damaging |
Het |
Gal3st2 |
C |
T |
1: 93,802,447 (GRCm39) |
A276V |
possibly damaging |
Het |
Gm47985 |
A |
T |
1: 151,059,241 (GRCm39) |
D294V |
unknown |
Het |
Golga1 |
A |
T |
2: 38,937,731 (GRCm39) |
D104E |
probably benign |
Het |
Hnrnpr |
C |
T |
4: 136,054,704 (GRCm39) |
A219V |
probably damaging |
Het |
Hsd3b7 |
T |
C |
7: 127,399,888 (GRCm39) |
|
probably null |
Het |
Hspa8 |
T |
C |
9: 40,715,921 (GRCm39) |
I562T |
probably damaging |
Het |
Htra4 |
C |
T |
8: 25,523,717 (GRCm39) |
V283M |
probably damaging |
Het |
Il36rn |
C |
T |
2: 24,167,541 (GRCm39) |
R11* |
probably null |
Het |
Iqcd |
A |
G |
5: 120,743,212 (GRCm39) |
T325A |
probably damaging |
Het |
Kif23 |
A |
T |
9: 61,832,271 (GRCm39) |
M624K |
probably benign |
Het |
Krt25 |
G |
T |
11: 99,208,209 (GRCm39) |
Q340K |
probably benign |
Het |
Lamp3 |
T |
A |
16: 19,518,413 (GRCm39) |
N275Y |
probably damaging |
Het |
Lpin2 |
A |
C |
17: 71,551,853 (GRCm39) |
K789T |
possibly damaging |
Het |
Mroh2b |
T |
C |
15: 4,929,986 (GRCm39) |
I24T |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,569,547 (GRCm39) |
I991F |
unknown |
Het |
Ntf5 |
T |
A |
7: 45,065,048 (GRCm39) |
L60Q |
probably damaging |
Het |
Nuak1 |
A |
G |
10: 84,276,158 (GRCm39) |
S22P |
possibly damaging |
Het |
Obox8 |
T |
C |
7: 14,066,979 (GRCm39) |
T22A |
possibly damaging |
Het |
Or8k21 |
T |
A |
2: 86,144,911 (GRCm39) |
T240S |
probably damaging |
Het |
Phc2 |
T |
C |
4: 128,640,934 (GRCm39) |
S147P |
probably benign |
Het |
Pole |
G |
T |
5: 110,482,084 (GRCm39) |
G142V |
probably damaging |
Het |
Poli |
G |
A |
18: 70,642,488 (GRCm39) |
Q508* |
probably null |
Het |
Repin1 |
T |
A |
6: 48,574,850 (GRCm39) |
L537* |
probably null |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
Slc30a2 |
T |
A |
4: 134,071,529 (GRCm39) |
|
probably null |
Het |
Slit3 |
A |
G |
11: 35,399,057 (GRCm39) |
S141G |
probably benign |
Het |
Spon2 |
A |
G |
5: 33,371,958 (GRCm39) |
S283P |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,734,266 (GRCm39) |
|
probably benign |
Het |
Syde2 |
A |
G |
3: 145,694,019 (GRCm39) |
D89G |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,184,586 (GRCm39) |
I4099T |
probably damaging |
Het |
Syt5 |
T |
C |
7: 4,546,075 (GRCm39) |
D105G |
probably benign |
Het |
Tlx3 |
C |
T |
11: 33,153,204 (GRCm39) |
G86S |
probably damaging |
Het |
Trim24 |
A |
T |
6: 37,934,775 (GRCm39) |
|
probably null |
Het |
Umodl1 |
G |
A |
17: 31,201,246 (GRCm39) |
V392I |
probably damaging |
Het |
Unc80 |
C |
A |
1: 66,685,731 (GRCm39) |
T2285K |
possibly damaging |
Het |
Vars1 |
G |
A |
17: 35,230,455 (GRCm39) |
V513I |
probably damaging |
Het |
Vmn1r87 |
T |
A |
7: 12,865,849 (GRCm39) |
Q146L |
probably benign |
Het |
Vmn2r62 |
T |
C |
7: 42,414,302 (GRCm39) |
I714V |
probably benign |
Het |
Xbp1 |
T |
A |
11: 5,474,275 (GRCm39) |
S159T |
probably damaging |
Het |
Xrn1 |
T |
A |
9: 95,851,565 (GRCm39) |
H194Q |
probably damaging |
Het |
Zc3h4 |
A |
T |
7: 16,162,976 (GRCm39) |
K459* |
probably null |
Het |
Zdhhc6 |
G |
A |
19: 55,292,871 (GRCm39) |
R292* |
probably null |
Het |
Zfp383 |
T |
A |
7: 29,608,071 (GRCm39) |
M1K |
probably null |
Het |
Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
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 |
|
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'- GCAACAATGAGAATGCTCTTTCAG -3'
(R):5'- GAGATGGGCTTACAGACATTAAGC -3'
Sequencing Primer
(F):5'- CTCGTCTGGAGAAAGGATGG -3'
(R):5'- TGGGCTTACAGACATTAAGCTATAG -3'
|
Posted On |
2019-05-13 |