Incidental Mutation 'R0552:Pde8a'
ID 45236
Institutional Source Beutler Lab
Gene Symbol Pde8a
Ensembl Gene ENSMUSG00000025584
Gene Name phosphodiesterase 8A
Synonyms Pde8
MMRRC Submission 038744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0552 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 80863344-80984281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80967095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 412 (N412S)
Ref Sequence ENSEMBL: ENSMUSP00000026672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026672]
AlphaFold O88502
Predicted Effect probably benign
Transcript: ENSMUST00000026672
AA Change: N412S

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: N412S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,453,026 (GRCm39) N760K probably benign Het
Ahcyl T A 16: 45,974,955 (GRCm39) T141S probably benign Het
Akr1b10 A G 6: 34,369,920 (GRCm39) T216A possibly damaging Het
Arsj A G 3: 126,232,993 (GRCm39) R580G probably benign Het
C9 A T 15: 6,474,918 (GRCm39) I26F probably damaging Het
Cacna2d1 A G 5: 16,533,041 (GRCm39) E578G probably damaging Het
Clca4b C T 3: 144,622,536 (GRCm39) V510I probably benign Het
Dab2 C T 15: 6,464,895 (GRCm39) T561I possibly damaging Het
Golga5 A T 12: 102,450,752 (GRCm39) E12D possibly damaging Het
Hsd17b12 A T 2: 93,874,280 (GRCm39) F208I probably damaging Het
Inf2 A G 12: 112,579,008 (GRCm39) probably benign Het
Kcnh3 T A 15: 99,127,337 (GRCm39) W378R probably damaging Het
Klhdc8b G C 9: 108,326,422 (GRCm39) R158G possibly damaging Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lcn3 T C 2: 25,656,421 (GRCm39) probably null Het
Mppe1 A G 18: 67,370,419 (GRCm39) probably null Het
Muc20 G A 16: 32,614,300 (GRCm39) A359V probably damaging Het
Myh14 T C 7: 44,263,105 (GRCm39) D1765G probably damaging Het
Or10j2 T C 1: 173,098,372 (GRCm39) M210T probably benign Het
Or4c10b C T 2: 89,711,235 (GRCm39) Q22* probably null Het
Or5p58 A G 7: 107,693,985 (GRCm39) M264T probably benign Het
Pbrm1 T A 14: 30,757,916 (GRCm39) L182Q probably damaging Het
Phyh A G 2: 4,940,912 (GRCm39) T271A probably damaging Het
Pkhd1l1 T C 15: 44,352,942 (GRCm39) S258P probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pyroxd1 A G 6: 142,291,463 (GRCm39) E2G probably benign Het
Ralgapa1 G T 12: 55,723,550 (GRCm39) Q2115K probably benign Het
Rufy3 A G 5: 88,732,129 (GRCm39) E44G possibly damaging Het
Slit2 A T 5: 48,395,721 (GRCm39) N712I probably damaging Het
Sptbn1 A G 11: 30,095,985 (GRCm39) M303T possibly damaging Het
Ssbp4 A G 8: 71,052,509 (GRCm39) I154T probably benign Het
Syne2 A G 12: 75,977,778 (GRCm39) K1409E probably benign Het
Tfap2b T C 1: 19,304,449 (GRCm39) Y420H probably damaging Het
Tlr5 A G 1: 182,803,261 (GRCm39) probably null Het
Tmprss15 C T 16: 78,821,637 (GRCm39) probably null Het
Tns1 A T 1: 73,959,722 (GRCm39) I418N probably damaging Het
Txlna A T 4: 129,522,984 (GRCm39) V452D probably benign Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Zfp764l1 A T 7: 126,991,504 (GRCm39) I161N possibly 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
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
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'- GTCGGTCTTCACTGAGTATGCAGG -3'
(R):5'- GGAGAAGATGTGCTTTACCGAGTCC -3'

Sequencing Primer
(F):5'- GCAACAATGAGAATGCTCTTTCAG -3'
(R):5'- TTTACCGAGTCCTACACGGG -3'
Posted On 2013-06-11