Incidental Mutation 'R4563:Pde8a'
ID 343198
Institutional Source Beutler Lab
Gene Symbol Pde8a
Ensembl Gene ENSMUSG00000025584
Gene Name phosphodiesterase 8A
Synonyms Pde8
MMRRC Submission 041788-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4563 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80863344-80984281 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 80958568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 315 (Y315*)
Ref Sequence ENSEMBL: ENSMUSP00000026672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026672]
AlphaFold O88502
Predicted Effect probably null
Transcript: ENSMUST00000026672
AA Change: Y315*
SMART Domains Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: Y315*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130494
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,382,089 (GRCm39) C591R probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Calm5 C A 13: 3,904,402 (GRCm39) S32* probably null Het
Ccdc198 T A 14: 49,471,955 (GRCm39) M152L probably benign Het
Cln3 G T 7: 126,171,730 (GRCm39) S346R probably damaging Het
G6pd2 G A 5: 61,967,686 (GRCm39) R487H possibly damaging Het
Glipr2 A T 4: 43,977,600 (GRCm39) N77Y probably damaging Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Kbtbd2 A G 6: 56,766,264 (GRCm39) V37A probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Mcm3 G T 1: 20,879,869 (GRCm39) R543S probably benign Het
Mgat4a T C 1: 37,505,660 (GRCm39) D43G probably damaging Het
Mphosph8 T C 14: 56,928,457 (GRCm39) Y703H probably benign Het
Ncf2 T C 1: 152,683,976 (GRCm39) probably benign Het
Nek6 T G 2: 38,475,305 (GRCm39) V282G probably damaging Het
Nhlrc1 T C 13: 47,167,666 (GRCm39) D197G possibly damaging Het
Nup93 G T 8: 95,034,520 (GRCm39) V612F probably damaging Het
Or5be3 C T 2: 86,864,028 (GRCm39) C179Y probably damaging Het
Or9i14 A G 19: 13,792,646 (GRCm39) F103L probably benign Het
Pafah1b2 T C 9: 45,887,404 (GRCm39) K36E probably damaging Het
Paqr9 A G 9: 95,442,997 (GRCm39) E329G probably benign Het
Pclo A G 5: 14,571,383 (GRCm39) Q256R probably damaging Het
Pctp A T 11: 89,879,578 (GRCm39) D94E probably benign Het
Pex14 A T 4: 149,126,225 (GRCm39) V41D probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rasal2 T C 1: 157,003,561 (GRCm39) K366R probably damaging Het
Rprd1a A C 18: 24,640,160 (GRCm39) probably null Het
Senp8 A C 9: 59,657,546 (GRCm39) M1R probably null Het
Slc49a4 T C 16: 35,518,312 (GRCm39) Y467C probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Strc T C 2: 121,196,286 (GRCm39) T1581A probably benign Het
Tmem117 T C 15: 94,536,035 (GRCm39) I23T possibly damaging Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Ube4b A G 4: 149,443,622 (GRCm39) probably benign Het
Vmn1r125 A G 7: 21,006,308 (GRCm39) T69A 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
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'- TCCCCAAGGACATAAAGTGGTATC -3'
(R):5'- GGCCTCATACCTGTTTGACTG -3'

Sequencing Primer
(F):5'- ATTGATGGCTTTCACACACAC -3'
(R):5'- GTCAGTCTGAACACACTCAGTTGTG -3'
Posted On 2015-09-24