Incidental Mutation 'R4615:Pde8a'
ID 345024
Institutional Source Beutler Lab
Gene Symbol Pde8a
Ensembl Gene ENSMUSG00000025584
Gene Name phosphodiesterase 8A
Synonyms Pde8
MMRRC Submission 041826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4615 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 80863344-80984281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80970485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 536 (W536R)
Ref Sequence ENSEMBL: ENSMUSP00000026672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026672]
AlphaFold O88502
Predicted Effect probably damaging
Transcript: ENSMUST00000026672
AA Change: W536R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026672
Gene: ENSMUSG00000025584
AA Change: W536R

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: ENSMUST00000130494
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Abcc9 C G 6: 142,634,833 (GRCm39) A144P possibly damaging Het
Adgrv1 C T 13: 81,642,688 (GRCm39) probably null Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Angptl3 A T 4: 98,919,598 (GRCm39) E119D probably benign Het
Atp8b1 T C 18: 64,686,170 (GRCm39) N671S probably null Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Carmil2 A G 8: 106,421,706 (GRCm39) D1019G possibly damaging Het
Cdh8 A T 8: 100,006,254 (GRCm39) I111K probably damaging Het
Cep120 T C 18: 53,847,913 (GRCm39) R649G probably damaging Het
Clptm1l A T 13: 73,755,857 (GRCm39) K158* probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnga1 A C 5: 72,762,117 (GRCm39) L466V probably damaging Het
Cpsf1 T C 15: 76,481,137 (GRCm39) T1240A possibly damaging Het
Cubn A G 2: 13,433,560 (GRCm39) S1117P probably damaging Het
Cyp2b9 T A 7: 25,900,550 (GRCm39) L396Q probably damaging Het
Cyp8b1 A T 9: 121,745,164 (GRCm39) L56* probably null Het
Dcbld2 A G 16: 58,276,457 (GRCm39) T458A probably benign Het
Dio2 G T 12: 90,696,595 (GRCm39) P131Q probably damaging Het
Dlg5 T C 14: 24,208,236 (GRCm39) Y990C probably damaging Het
Dsc3 T C 18: 20,104,545 (GRCm39) D594G possibly damaging Het
Dsp A G 13: 38,375,608 (GRCm39) E1131G probably damaging Het
Fdx1 A T 9: 51,859,945 (GRCm39) Y21* probably null Het
Gal3st4 A G 5: 138,264,525 (GRCm39) V158A probably damaging Het
Gm10269 T A 18: 20,815,820 (GRCm39) E67D probably benign Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Gng2 C T 14: 19,941,395 (GRCm39) V16I possibly damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itprid2 A G 2: 79,492,726 (GRCm39) E1091G probably damaging Het
Lama2 C A 10: 26,857,520 (GRCm39) V3110F probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Ncapg A T 5: 45,844,741 (GRCm39) M579L probably benign Het
Oog3 A T 4: 143,884,899 (GRCm39) Y346N probably benign Het
Or10ak14 T C 4: 118,611,334 (GRCm39) T134A probably benign Het
Or14c39 T C 7: 86,343,936 (GRCm39) S91P probably damaging Het
Orm2 A G 4: 63,281,536 (GRCm39) D89G probably damaging Het
Pcdhb4 T A 18: 37,441,553 (GRCm39) S288T probably benign Het
Pcsk2 G T 2: 143,637,889 (GRCm39) C375F probably damaging Het
Pdcd10 T C 3: 75,428,398 (GRCm39) I138M probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Plcl1 A T 1: 55,737,293 (GRCm39) N878I probably benign Het
Prkdc A T 16: 15,480,938 (GRCm39) D353V probably damaging Het
Psme4 C T 11: 30,784,287 (GRCm39) T954I probably benign Het
Ran A G 5: 129,099,162 (GRCm39) I115V probably benign Het
Reln A G 5: 22,177,870 (GRCm39) L1867P possibly damaging Het
S100a1 A G 3: 90,418,562 (GRCm39) V84A possibly damaging Het
Sall2 G A 14: 52,550,207 (GRCm39) P994L probably benign Het
Shtn1 A T 19: 59,010,648 (GRCm39) I273N probably benign Het
Slc17a9 T C 2: 180,373,699 (GRCm39) I40T probably benign Het
Slc29a2 T C 19: 5,079,292 (GRCm39) V305A probably damaging Het
Taar2 T A 10: 23,817,263 (GRCm39) F268I probably benign Het
Taf3 G A 2: 9,956,901 (GRCm39) T422I probably damaging Het
Tgs1 T C 4: 3,585,156 (GRCm39) F99L probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Ttn A G 2: 76,597,219 (GRCm39) I19898T probably damaging Het
Ulk1 G T 5: 110,936,912 (GRCm39) T3N probably damaging Het
Vars1 A T 17: 35,232,857 (GRCm39) K900N probably damaging Het
Vmn2r15 A G 5: 109,441,348 (GRCm39) V170A possibly damaging Het
Vmn2r53 A T 7: 12,316,229 (GRCm39) L530Q probably damaging Het
Zar1l G T 5: 150,441,528 (GRCm39) Q33K probably benign Het
Zdhhc16 T C 19: 41,932,122 (GRCm39) V358A 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
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
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'- GATCAGTTGCCCTGGTACTCTG -3'
(R):5'- ACTCTGGTTATTACGGTGCAG -3'

Sequencing Primer
(F):5'- CTCTGCACTGTGGCTTGAATGTAC -3'
(R):5'- ATTACGGTGCAGTGAGGGC -3'
Posted On 2015-09-25