Incidental Mutation 'R5892:Pde8a'
| ID |
457244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde8a
|
| Ensembl Gene |
ENSMUSG00000025584 |
| Gene Name |
phosphodiesterase 8A |
| Synonyms |
Pde8 |
| MMRRC Submission |
044093-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5892 (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 80945439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 183
(N183S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
| AlphaFold |
O88502 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026672
AA Change: N183S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: N183S
| 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 |
0.0998 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
98% (56/57) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524J08Rik |
G |
T |
5: 100,127,124 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,091,844 (GRCm39) |
A893T |
probably damaging |
Het |
| Adtrp |
A |
T |
13: 41,981,682 (GRCm39) |
N30K |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,597,885 (GRCm39) |
S904T |
probably damaging |
Het |
| Cep170 |
T |
A |
1: 176,582,953 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,946,994 (GRCm39) |
V145A |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,535,572 (GRCm39) |
E4G |
probably benign |
Het |
| Depdc1a |
G |
C |
3: 159,232,306 (GRCm39) |
A686P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,376,753 (GRCm39) |
|
probably null |
Het |
| Enox1 |
A |
G |
14: 77,723,457 (GRCm39) |
|
probably benign |
Het |
| Fam107b |
A |
G |
2: 3,779,601 (GRCm39) |
E268G |
probably damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,435,917 (GRCm39) |
S437G |
probably benign |
Het |
| Flnb |
C |
A |
14: 7,907,183 (GRCm38) |
T1252K |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,923,951 (GRCm39) |
|
probably benign |
Het |
| Gm20402 |
G |
A |
3: 52,176,370 (GRCm39) |
A50T |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gzmk |
C |
T |
13: 113,310,456 (GRCm39) |
|
probably null |
Het |
| Ino80 |
A |
T |
2: 119,270,028 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,223,813 (GRCm39) |
T677A |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,428,305 (GRCm39) |
E1220G |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,204 (GRCm39) |
T498A |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,273,120 (GRCm39) |
T4043S |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 15,619,078 (GRCm39) |
N314S |
probably benign |
Het |
| Mfsd1 |
A |
G |
3: 67,497,162 (GRCm39) |
|
probably null |
Het |
| Muc1 |
C |
T |
3: 89,138,300 (GRCm39) |
P381S |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,076,002 (GRCm39) |
K730* |
probably null |
Het |
| Nat3 |
T |
A |
8: 68,000,590 (GRCm39) |
N156K |
probably benign |
Het |
| Nelfe |
T |
C |
17: 35,073,645 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 70,990,471 (GRCm39) |
L927Q |
probably damaging |
Het |
| P4ha2 |
A |
G |
11: 54,011,014 (GRCm39) |
Y343C |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,571,185 (GRCm39) |
Q190L |
probably damaging |
Het |
| Plekha2 |
C |
T |
8: 25,542,381 (GRCm39) |
V278I |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
| Ppox |
C |
T |
1: 171,105,034 (GRCm39) |
V385I |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,407,716 (GRCm39) |
D1170G |
possibly damaging |
Het |
| Prmt5 |
A |
T |
14: 54,747,368 (GRCm39) |
S470T |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,692,668 (GRCm39) |
|
probably benign |
Het |
| Siglecg |
G |
A |
7: 43,061,628 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,949,810 (GRCm39) |
N367S |
probably damaging |
Het |
| Tex29 |
C |
T |
8: 11,904,288 (GRCm39) |
|
probably benign |
Het |
| Tmem117 |
T |
A |
15: 94,536,020 (GRCm39) |
V18E |
probably damaging |
Het |
| Tmtc2 |
C |
T |
10: 105,249,366 (GRCm39) |
M122I |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,283,151 (GRCm39) |
N287K |
probably benign |
Het |
| Unc93b1 |
A |
T |
19: 3,993,632 (GRCm39) |
D358V |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,484,372 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
T |
17: 26,046,960 (GRCm39) |
Q671L |
probably benign |
Het |
| Zfp110 |
C |
T |
7: 12,582,405 (GRCm39) |
T351I |
probably benign |
Het |
| Zfp963 |
T |
C |
8: 70,196,027 (GRCm39) |
D142G |
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 |
|
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 |
|
|
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'- GCCCTAGCTTTATAAATGACAGG -3'
(R):5'- ATCAGACATTGAGATGGATTCCAG -3'
Sequencing Primer
(F):5'- GCTTTATAAATGACAGGGAGATAACC -3'
(R):5'- TGAGTCAGAGTCTCCCTGAAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation