Incidental Mutation 'R2165:Pde8a'
ID |
235427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde8a
|
Ensembl Gene |
ENSMUSG00000025584 |
Gene Name |
phosphodiesterase 8A |
Synonyms |
Pde8 |
MMRRC Submission |
040168-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2165 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 80945516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
[ENSMUST00000026672]
|
AlphaFold |
O88502 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026672
|
SMART Domains |
Protein: ENSMUSP00000026672 Gene: ENSMUSG00000025584
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 |
probably null
Transcript: ENSMUST00000026672
|
SMART Domains |
Protein: ENSMUSP00000026672 Gene: ENSMUSG00000025584
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
|
Meta Mutation Damage Score |
0.9504 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
99% (71/72) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,906,048 (GRCm39) |
T806A |
possibly damaging |
Het |
Adgre1 |
T |
G |
17: 57,726,338 (GRCm39) |
L403R |
probably damaging |
Het |
Alox12 |
A |
T |
11: 70,133,398 (GRCm39) |
|
probably null |
Het |
Ankib1 |
A |
T |
5: 3,763,210 (GRCm39) |
D506E |
possibly damaging |
Het |
Ascc3 |
T |
G |
10: 50,597,935 (GRCm39) |
Y1268D |
probably damaging |
Het |
Bik |
A |
G |
15: 83,425,624 (GRCm39) |
M42V |
probably benign |
Het |
Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
Bub1 |
T |
C |
2: 127,643,201 (GRCm39) |
I1048V |
probably benign |
Het |
Cad |
A |
G |
5: 31,219,564 (GRCm39) |
N621S |
probably damaging |
Het |
Camkv |
C |
A |
9: 107,822,799 (GRCm39) |
N69K |
possibly damaging |
Het |
Ccdc110 |
T |
C |
8: 46,395,876 (GRCm39) |
M589T |
probably benign |
Het |
Ccdc154 |
T |
A |
17: 25,389,864 (GRCm39) |
V498E |
probably damaging |
Het |
Ccr1l1 |
A |
G |
9: 123,777,691 (GRCm39) |
L252P |
probably damaging |
Het |
Cdh1 |
T |
C |
8: 107,390,953 (GRCm39) |
C690R |
probably damaging |
Het |
Cfap157 |
T |
G |
2: 32,668,175 (GRCm39) |
|
probably null |
Het |
Cux2 |
A |
G |
5: 122,025,540 (GRCm39) |
S43P |
possibly damaging |
Het |
Cyb5rl |
C |
T |
4: 106,925,880 (GRCm39) |
P21S |
probably damaging |
Het |
Cyp51 |
T |
G |
5: 4,136,594 (GRCm39) |
Q400P |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,137,152 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,642,688 (GRCm39) |
V1104I |
possibly damaging |
Het |
Ephb4 |
A |
G |
5: 137,352,688 (GRCm39) |
I90M |
probably benign |
Het |
Fam13c |
A |
G |
10: 70,378,523 (GRCm39) |
N269S |
probably damaging |
Het |
Fam83c |
T |
A |
2: 155,673,444 (GRCm39) |
Y248F |
possibly damaging |
Het |
Fat2 |
A |
G |
11: 55,194,542 (GRCm39) |
F1166L |
probably benign |
Het |
Fem1a |
A |
G |
17: 56,564,686 (GRCm39) |
N260D |
probably benign |
Het |
Fnbp4 |
T |
A |
2: 90,597,743 (GRCm39) |
|
probably null |
Het |
Fut9 |
T |
A |
4: 25,619,733 (GRCm39) |
*360Y |
probably null |
Het |
Fut9 |
T |
A |
4: 25,619,734 (GRCm39) |
*360L |
probably null |
Het |
Gm3727 |
T |
A |
14: 7,264,625 (GRCm38) |
Q10L |
probably damaging |
Het |
Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
Haspin |
A |
C |
11: 73,027,456 (GRCm39) |
N544K |
probably damaging |
Het |
Havcr1 |
A |
G |
11: 46,669,379 (GRCm39) |
N286S |
probably benign |
Het |
Lrp6 |
A |
C |
6: 134,436,246 (GRCm39) |
C1307G |
probably damaging |
Het |
Lrrc2 |
A |
C |
9: 110,808,645 (GRCm39) |
H294P |
possibly damaging |
Het |
Mettl25b |
A |
T |
3: 87,834,360 (GRCm39) |
|
probably null |
Het |
Mon2 |
A |
C |
10: 122,878,269 (GRCm39) |
|
probably null |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mrgprb1 |
T |
C |
7: 48,097,070 (GRCm39) |
I281V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,569,294 (GRCm39) |
E118G |
probably damaging |
Het |
Nefh |
T |
C |
11: 4,893,872 (GRCm39) |
D394G |
probably damaging |
Het |
Neurl4 |
A |
G |
11: 69,794,047 (GRCm39) |
T168A |
probably benign |
Het |
Or10s1 |
A |
G |
9: 39,986,211 (GRCm39) |
N207D |
possibly damaging |
Het |
Or1j18 |
T |
A |
2: 36,624,713 (GRCm39) |
C127S |
probably damaging |
Het |
Or51a10 |
T |
C |
7: 103,698,845 (GRCm39) |
T239A |
probably benign |
Het |
Or5ak4 |
A |
T |
2: 85,161,446 (GRCm39) |
N265K |
probably benign |
Het |
Oxsr1 |
A |
C |
9: 119,123,498 (GRCm39) |
M92R |
probably damaging |
Het |
Pex5l |
T |
A |
3: 33,007,281 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
T |
A |
9: 105,549,984 (GRCm39) |
M1025K |
probably benign |
Het |
Plch1 |
C |
T |
3: 63,605,903 (GRCm39) |
E1325K |
probably benign |
Het |
Plin2 |
A |
T |
4: 86,586,669 (GRCm39) |
V54E |
probably damaging |
Het |
Prss47 |
A |
T |
13: 65,192,887 (GRCm39) |
I298N |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,097,546 (GRCm39) |
R1017G |
probably benign |
Het |
Psg19 |
T |
A |
7: 18,530,911 (GRCm39) |
Y81F |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Serpinb1a |
T |
C |
13: 33,034,397 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2a |
A |
T |
19: 47,266,794 (GRCm39) |
V265E |
probably damaging |
Het |
Slc22a17 |
A |
T |
14: 55,146,282 (GRCm39) |
Y337* |
probably null |
Het |
Slc25a27 |
A |
G |
17: 43,968,663 (GRCm39) |
V138A |
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,636,314 (GRCm39) |
Y220C |
probably damaging |
Het |
Slc66a3 |
G |
A |
12: 17,039,840 (GRCm39) |
L192F |
probably damaging |
Het |
Stab1 |
A |
T |
14: 30,890,392 (GRCm39) |
S20T |
probably benign |
Het |
Tcstv2a |
A |
T |
13: 120,725,633 (GRCm39) |
Q99L |
probably damaging |
Het |
Thsd1 |
G |
T |
8: 22,728,538 (GRCm39) |
|
probably benign |
Het |
Tmem204 |
G |
A |
17: 25,299,566 (GRCm39) |
|
probably benign |
Het |
Tom1l1 |
A |
G |
11: 90,540,721 (GRCm39) |
|
probably benign |
Het |
Toporsl |
T |
A |
4: 52,612,072 (GRCm39) |
F655Y |
possibly damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,301,553 (GRCm39) |
K852E |
unknown |
Het |
Wdpcp |
T |
G |
11: 21,641,884 (GRCm39) |
L174R |
probably damaging |
Het |
Zbbx |
G |
A |
3: 75,019,414 (GRCm39) |
P99S |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
Zfp600 |
A |
T |
4: 146,133,488 (GRCm39) |
R719* |
probably null |
Het |
Zfp697 |
C |
A |
3: 98,335,330 (GRCm39) |
A365E |
unknown |
Het |
Zfp957 |
A |
C |
14: 79,451,053 (GRCm39) |
S249A |
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 |
|
R2076:Pde8a
|
UTSW |
7 |
80,958,693 (GRCm39) |
missense |
probably benign |
0.11 |
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'- AGGCAAATTGAAAGGCTTGTTTAGG -3'
(R):5'- CATTGAGATGGATTCCAGAAAGTC -3'
Sequencing Primer
(F):5'- GATTTCTTTTGTGGCATGCATCAAAG -3'
(R):5'- TGAGTCAGAGTCTCCCTGAAC -3'
|
Posted On |
2014-10-01 |