Incidental Mutation 'R9354:Pde8a'
ID 708267
Institutional Source Beutler Lab
Gene Symbol Pde8a
Ensembl Gene ENSMUSG00000025584
Gene Name phosphodiesterase 8A
Synonyms Pde8
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9354 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 80863344-80984281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80982619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 746 (T746I)
Ref Sequence ENSEMBL: ENSMUSP00000026672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026672]
AlphaFold O88502
Predicted Effect probably damaging
Transcript: ENSMUST00000026672
AA Change: T746I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: T746I

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,436,873 (GRCm39) Q181R unknown Het
Acsl1 T G 8: 46,966,753 (GRCm39) C242G probably benign Het
Agap2 A C 10: 126,923,104 (GRCm39) N646T unknown Het
Ankrd44 A T 1: 54,687,438 (GRCm39) *994R probably null Het
Apol7c C T 15: 77,410,112 (GRCm39) R278H possibly damaging Het
Birc6 A G 17: 74,921,401 (GRCm39) E2166G probably benign Het
Caskin2 G A 11: 115,693,468 (GRCm39) T528M probably damaging Het
Ccdc30 G T 4: 119,230,850 (GRCm39) P15Q possibly damaging Het
Cemip2 A G 19: 21,779,389 (GRCm39) S400G probably benign Het
Cenpf G A 1: 189,379,114 (GRCm39) T45I Het
Cep68 T C 11: 20,188,569 (GRCm39) E612G probably damaging Het
Chpf2 T C 5: 24,796,392 (GRCm39) L446P probably damaging Het
Ctsl A T 13: 64,516,850 (GRCm39) Y40N probably damaging Het
Dis3l T C 9: 64,221,922 (GRCm39) N496S probably benign Het
Espnl A T 1: 91,272,323 (GRCm39) D561V probably benign Het
Flnb T A 14: 7,818,411 (GRCm38) L87Q probably benign Het
Gbp9 T A 5: 105,232,825 (GRCm39) I276F possibly damaging Het
Gid4 G T 11: 60,308,618 (GRCm39) R46L probably benign Het
Gper1 G A 5: 139,412,029 (GRCm39) D125N possibly damaging Het
Gpr146 A G 5: 139,378,366 (GRCm39) N56S probably benign Het
Grhpr G T 4: 44,981,465 (GRCm39) R5L probably benign Het
Gstm6 A T 3: 107,850,018 (GRCm39) N59K probably damaging Het
Hdac7 A T 15: 97,694,769 (GRCm39) F802L probably damaging Het
Igfbpl1 A T 4: 45,816,348 (GRCm39) V159D probably damaging Het
Itga8 T C 2: 12,237,668 (GRCm39) S351G possibly damaging Het
Itgad C A 7: 127,785,146 (GRCm39) H354Q probably damaging Het
Jmjd1c T C 10: 67,059,875 (GRCm39) S641P probably damaging Het
Klhl33 T C 14: 51,130,385 (GRCm39) T110A probably benign Het
Lcorl T A 5: 45,890,968 (GRCm39) K545* probably null Het
Lilra6 A G 7: 3,914,628 (GRCm39) S546P probably damaging Het
Ly6c1 T A 15: 74,916,471 (GRCm39) I124F probably benign Het
Map4 A G 9: 109,897,847 (GRCm39) T858A probably benign Het
Marchf5 G T 19: 37,185,264 (GRCm39) probably benign Het
Muc2 A G 7: 141,307,157 (GRCm39) K769E Het
Myh6 T A 14: 55,200,992 (GRCm39) I157F probably damaging Het
Naip1 A G 13: 100,563,994 (GRCm39) V389A probably benign Het
Or52b3 G A 7: 102,204,397 (GRCm39) R302H possibly damaging Het
Pcdhgc4 A G 18: 37,949,640 (GRCm39) H352R probably benign Het
Pick1 T C 15: 79,123,848 (GRCm39) V73A probably damaging Het
Ppwd1 C T 13: 104,342,080 (GRCm39) V625I probably benign Het
Prss59 A G 6: 40,905,473 (GRCm39) V61A probably damaging Het
Prune2 A G 19: 17,099,986 (GRCm39) E1830G probably benign Het
Ralgapb A G 2: 158,279,313 (GRCm39) N445S possibly damaging Het
Rapgef6 G T 11: 54,510,749 (GRCm39) R222L possibly damaging Het
Rorc A T 3: 94,280,170 (GRCm39) probably benign Het
Rps6ka1 A C 4: 133,594,432 (GRCm39) probably null Het
Sdk2 T C 11: 113,725,757 (GRCm39) Y1164C probably benign Het
Sema5a T A 15: 32,562,902 (GRCm39) Y304* probably null Het
Slc26a4 A T 12: 31,585,255 (GRCm39) V513D possibly damaging Het
Slf2 T A 19: 44,936,471 (GRCm39) D705E probably damaging Het
Spag17 A G 3: 99,934,905 (GRCm39) T704A probably benign Het
Tex15 C G 8: 34,063,344 (GRCm39) Q925E possibly damaging Het
Trim38 A T 13: 23,969,875 (GRCm39) T145S probably benign Het
Trpm3 G A 19: 22,425,696 (GRCm39) C17Y probably benign Het
Usp42 A G 5: 143,701,027 (GRCm39) Y999H probably benign Het
Vat1 A C 11: 101,351,441 (GRCm39) M300R probably benign Het
Vmn1r85 T A 7: 12,818,725 (GRCm39) I140F probably damaging Het
Vmn2r57 T C 7: 41,049,663 (GRCm39) I695M probably benign Het
Wnk1 C T 6: 119,942,660 (GRCm39) R789Q unknown Het
Zswim5 G A 4: 116,844,232 (GRCm39) G1090D probably damaging Het
Other mutations in Pde8a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AAAATGTTTGGGGTGTCCTCAG -3'
(R):5'- AACCCTCCGGAATGACTACTTTC -3'

Sequencing Primer
(F):5'- AGGGTTCTCACTCTGGGAC -3'
(R):5'- ATGCTTCTTCCTAACTAGTGGTGAC -3'
Posted On 2022-04-18