Incidental Mutation 'R7876:Pde8a'
| ID |
608437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde8a
|
| Ensembl Gene |
ENSMUSG00000025584 |
| Gene Name |
phosphodiesterase 8A |
| Synonyms |
Pde8 |
| MMRRC Submission |
045928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80863344-80984281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80973819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 592
(D592G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026672]
|
| AlphaFold |
O88502 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026672
AA Change: D592G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: D592G
| 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 |
0.9594 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,760,439 (GRCm39) |
K65R |
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,273,509 (GRCm39) |
D1083G |
probably benign |
Het |
| Aox1 |
C |
T |
1: 58,101,330 (GRCm39) |
Q434* |
probably null |
Het |
| Atp13a5 |
T |
A |
16: 29,140,566 (GRCm39) |
N330I |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,739,740 (GRCm39) |
F678L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,411 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
A |
T |
17: 25,594,225 (GRCm39) |
I2311K |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,392,161 (GRCm39) |
T187A |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,088,922 (GRCm39) |
I1031V |
probably benign |
Het |
| Efna5 |
T |
C |
17: 62,957,929 (GRCm39) |
N109S |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,202,046 (GRCm39) |
S343T |
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,937,928 (GRCm39) |
Y654H |
unknown |
Het |
| Gbe1 |
G |
A |
16: 70,238,059 (GRCm39) |
V282I |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,720,121 (GRCm39) |
K719E |
|
Het |
| Grm6 |
A |
T |
11: 50,750,457 (GRCm39) |
Y540F |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,620,722 (GRCm39) |
V1163I |
probably benign |
Het |
| Igkv4-53 |
T |
A |
6: 69,625,987 (GRCm39) |
Q60L |
possibly damaging |
Het |
| Igkv4-59 |
A |
T |
6: 69,415,337 (GRCm39) |
S73T |
probably damaging |
Het |
| Il1a |
A |
C |
2: 129,142,762 (GRCm39) |
W228G |
probably damaging |
Het |
| Klk13 |
A |
G |
7: 43,370,403 (GRCm39) |
D22G |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,913,850 (GRCm39) |
C602S |
probably damaging |
Het |
| Kras |
T |
C |
6: 145,170,848 (GRCm39) |
K176E |
probably benign |
Het |
| Krtap5-4 |
G |
A |
7: 141,857,585 (GRCm39) |
C85Y |
unknown |
Het |
| Map3k13 |
A |
G |
16: 21,741,069 (GRCm39) |
T799A |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,056,697 (GRCm39) |
Y391H |
probably damaging |
Het |
| Morf4l1 |
G |
A |
9: 89,975,859 (GRCm39) |
A311V |
possibly damaging |
Het |
| Ms4a8a |
T |
A |
19: 11,056,848 (GRCm39) |
Q78L |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nav3 |
T |
C |
10: 109,689,359 (GRCm39) |
N306S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,956,519 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
A |
18: 36,330,140 (GRCm39) |
Y25F |
unknown |
Het |
| Nup153 |
C |
T |
13: 46,835,084 (GRCm39) |
S1407N |
probably benign |
Het |
| Or2c1 |
T |
A |
16: 3,656,658 (GRCm39) |
|
probably null |
Het |
| Or4c99 |
A |
G |
2: 88,329,999 (GRCm39) |
Y190C |
probably damaging |
Het |
| Or5b123 |
A |
G |
19: 13,596,628 (GRCm39) |
Y34C |
probably damaging |
Het |
| Pcf11 |
A |
C |
7: 92,310,534 (GRCm39) |
S485A |
probably damaging |
Het |
| Perm1 |
G |
A |
4: 156,302,046 (GRCm39) |
G197R |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,020,671 (GRCm39) |
M757K |
probably benign |
Het |
| Pls1 |
G |
A |
9: 95,667,558 (GRCm39) |
Q117* |
probably null |
Het |
| Plscr2 |
T |
C |
9: 92,169,781 (GRCm39) |
V77A |
probably benign |
Het |
| Polm |
T |
C |
11: 5,781,695 (GRCm39) |
E267G |
probably benign |
Het |
| Pomgnt1 |
A |
T |
4: 116,015,106 (GRCm39) |
K519M |
probably damaging |
Het |
| Ralyl |
G |
A |
3: 14,104,850 (GRCm39) |
|
probably null |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,832 (GRCm39) |
T338I |
possibly damaging |
Het |
| Rnf31 |
T |
C |
14: 55,830,534 (GRCm39) |
|
probably null |
Het |
| Slc51a |
A |
T |
16: 32,297,601 (GRCm39) |
S99T |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,285,032 (GRCm39) |
L700H |
probably damaging |
Het |
| Tdrd7 |
G |
A |
4: 46,025,684 (GRCm39) |
V835I |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,414,397 (GRCm39) |
V64A |
probably benign |
Het |
| Tmprss5 |
A |
G |
9: 49,020,391 (GRCm39) |
S140G |
probably benign |
Het |
| Tspan11 |
G |
T |
6: 127,900,629 (GRCm39) |
V67F |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,707,426 (GRCm39) |
T252A |
probably damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,326 (GRCm39) |
E238V |
probably damaging |
Het |
| Wdpcp |
T |
A |
11: 21,661,486 (GRCm39) |
W253R |
probably benign |
Het |
| Zdhhc23 |
A |
T |
16: 43,789,663 (GRCm39) |
V375E |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,941,496 (GRCm39) |
M964K |
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 |
|
|
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 |
|
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'- GTTCTGTCAGCCAAGCACAG -3'
(R):5'- CCCTGGTGAACTGTAGAGTGAAC -3'
Sequencing Primer
(F):5'- GAGGGAAGACAGGATCTGCTC -3'
(R):5'- ACTGTAGAGTGAACAGCTTCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation