Incidental Mutation 'R2076:Pde8a'
| ID |
229157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde8a
|
| Ensembl Gene |
ENSMUSG00000025584 |
| Gene Name |
phosphodiesterase 8A |
| Synonyms |
Pde8 |
| MMRRC Submission |
040081-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80958693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 330
(T330A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
| AlphaFold |
O88502 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026672
AA Change: T330A
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: T330A
| 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: ENSMUST00000128154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130494
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (61/62) |
| 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 |
|---|
| Abca5 |
A |
T |
11: 110,178,478 (GRCm39) |
V1165D |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,627,910 (GRCm39) |
H103R |
probably damaging |
Het |
| Apba1 |
G |
T |
19: 23,870,587 (GRCm39) |
E140* |
probably null |
Het |
| Bicdl1 |
A |
T |
5: 115,793,987 (GRCm39) |
I253N |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,802 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,197,177 (GRCm39) |
R160G |
probably damaging |
Het |
| Cct7 |
A |
T |
6: 85,445,122 (GRCm39) |
I458F |
probably damaging |
Het |
| Cd3g |
T |
A |
9: 44,885,595 (GRCm39) |
D50V |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,745,660 (GRCm39) |
L461P |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,248,741 (GRCm39) |
D1763E |
possibly damaging |
Het |
| Csn2 |
A |
G |
5: 87,844,033 (GRCm39) |
S19P |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,816,576 (GRCm39) |
V4D |
probably benign |
Het |
| Ddx3y |
A |
G |
Y: 1,266,593 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
G |
T |
18: 84,755,033 (GRCm39) |
D170Y |
probably damaging |
Het |
| Dlgap1 |
C |
T |
17: 71,093,826 (GRCm39) |
Q716* |
probably null |
Het |
| Dlx6 |
A |
G |
6: 6,867,098 (GRCm39) |
S234G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,542,968 (GRCm39) |
T2401A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,281,481 (GRCm39) |
Y2847* |
probably null |
Het |
| Dpysl2 |
A |
G |
14: 67,102,571 (GRCm39) |
S30P |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,786,620 (GRCm39) |
D441G |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,553,567 (GRCm39) |
L50* |
probably null |
Het |
| Fam135b |
T |
A |
15: 71,350,092 (GRCm39) |
E349D |
probably damaging |
Het |
| Foxl3 |
A |
G |
5: 138,807,022 (GRCm39) |
D100G |
probably benign |
Het |
| Frat2 |
T |
C |
19: 41,836,242 (GRCm39) |
T37A |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,317,869 (GRCm39) |
|
probably null |
Het |
| Ift25 |
T |
C |
4: 107,136,964 (GRCm39) |
S121P |
possibly damaging |
Het |
| Impdh1 |
G |
A |
6: 29,205,162 (GRCm39) |
A213V |
probably damaging |
Het |
| Irf2 |
G |
T |
8: 47,298,962 (GRCm39) |
W252L |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,416,384 (GRCm39) |
D260G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,152,513 (GRCm39) |
H338L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,314,100 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
C |
16: 19,936,628 (GRCm39) |
V412A |
probably damaging |
Het |
| Lgals8 |
T |
A |
13: 12,469,750 (GRCm39) |
K70* |
probably null |
Het |
| Mrtfb |
T |
C |
16: 13,219,246 (GRCm39) |
S631P |
probably benign |
Het |
| Myo1e |
T |
A |
9: 70,291,159 (GRCm39) |
N983K |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,340,691 (GRCm39) |
R2010G |
probably benign |
Het |
| Npw |
A |
T |
17: 24,876,413 (GRCm39) |
V166D |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,262,881 (GRCm39) |
Y169C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,178,479 (GRCm39) |
Y579H |
probably damaging |
Het |
| Plxnb2 |
C |
T |
15: 89,042,229 (GRCm39) |
V1592M |
probably damaging |
Het |
| Ppp2r3d |
A |
C |
9: 101,021,570 (GRCm39) |
M955R |
possibly damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,364 (GRCm39) |
I1349K |
probably damaging |
Het |
| Rad52 |
C |
T |
6: 119,888,040 (GRCm39) |
H9Y |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,520 (GRCm39) |
Q466R |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,262 (GRCm39) |
I1227N |
possibly damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,164,088 (GRCm39) |
M273V |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,082,410 (GRCm39) |
V406A |
possibly damaging |
Het |
| Slc30a3 |
G |
T |
5: 31,244,165 (GRCm39) |
Y323* |
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,742,770 (GRCm39) |
I441V |
possibly damaging |
Het |
| Spast |
G |
C |
17: 74,659,026 (GRCm39) |
G131A |
probably damaging |
Het |
| Syne1 |
C |
G |
10: 4,990,897 (GRCm39) |
W8444S |
probably damaging |
Het |
| Tgm4 |
G |
T |
9: 122,880,160 (GRCm39) |
A211S |
probably benign |
Het |
| Themis2 |
T |
C |
4: 132,513,113 (GRCm39) |
D371G |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
| Uba3 |
G |
T |
6: 97,176,241 (GRCm39) |
D88E |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,144 (GRCm39) |
M111K |
probably damaging |
Het |
| Wdr35 |
C |
T |
12: 9,074,281 (GRCm39) |
H971Y |
possibly damaging |
Het |
| Yeats2 |
C |
A |
16: 20,005,032 (GRCm39) |
H356Q |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,528 (GRCm39) |
K316E |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,902,771 (GRCm39) |
L900P |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,181,410 (GRCm39) |
N423D |
possibly damaging |
Het |
| Zfp932 |
A |
G |
5: 110,157,334 (GRCm39) |
Q344R |
probably benign |
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 |
|
|
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'- ATCTATCTCCCATATTAGAGTCAGGAG -3'
(R):5'- ACTGGTCAAGATGCCCACAG -3'
Sequencing Primer
(F):5'- CAGAGTGTGCAATGGCAA -3'
(R):5'- CAGTCCTCACACCACGCTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation