Incidental Mutation 'R1436:Pde8b'
ID 160663
Institutional Source Beutler Lab
Gene Symbol Pde8b
Ensembl Gene ENSMUSG00000021684
Gene Name phosphodiesterase 8B
Synonyms B230331L10Rik, C030047E14Rik
MMRRC Submission 039491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R1436 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 95160962-95386844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95162678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 815 (T815A)
Ref Sequence ENSEMBL: ENSMUSP00000128987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022192] [ENSMUST00000056512] [ENSMUST00000067082] [ENSMUST00000160801] [ENSMUST00000162153] [ENSMUST00000162292] [ENSMUST00000162412] [ENSMUST00000172104]
AlphaFold E9Q4S1
Predicted Effect probably benign
Transcript: ENSMUST00000022192
AA Change: T823A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684
AA Change: T823A

DomainStartEndE-ValueType
Pfam:PDE8 1 52 2.2e-39 PFAM
low complexity region 75 98 N/A INTRINSIC
Pfam:Response_reg 134 252 2.9e-15 PFAM
Blast:HDc 420 481 1e-20 BLAST
HDc 565 748 3.01e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056512
SMART Domains Protein: ENSMUSP00000055145
Gene: ENSMUSG00000042015

DomainStartEndE-ValueType
WD40 32 70 4.48e-2 SMART
WD40 73 119 1.24e-4 SMART
WD40 122 159 1.28e1 SMART
WD40 211 249 2.86e0 SMART
WD40 308 350 7.92e-3 SMART
WD40 394 432 1.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067082
AA Change: T850A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: T850A

DomainStartEndE-ValueType
Pfam:PDE8 1 47 1.4e-32 PFAM
low complexity region 75 98 N/A INTRINSIC
Blast:REC 112 235 6e-45 BLAST
PAS 249 316 3.59e-3 SMART
Blast:HDc 447 508 1e-20 BLAST
HDc 592 775 3.01e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160801
SMART Domains Protein: ENSMUSP00000124033
Gene: ENSMUSG00000042015

DomainStartEndE-ValueType
WD40 32 70 4.48e-2 SMART
WD40 73 119 1.24e-4 SMART
WD40 122 159 1.28e1 SMART
WD40 211 249 2.86e0 SMART
WD40 308 350 7.92e-3 SMART
WD40 394 432 1.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162153
AA Change: T765A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: T765A

DomainStartEndE-ValueType
Pfam:Response_reg 29 147 2.6e-15 PFAM
PAS 164 231 3.59e-3 SMART
Blast:HDc 362 423 1e-20 BLAST
HDc 507 690 3.01e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162292
AA Change: T773A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684
AA Change: T773A

DomainStartEndE-ValueType
Pfam:PDE8 1 52 2.1e-39 PFAM
low complexity region 75 98 N/A INTRINSIC
Pfam:Response_reg 134 252 2.6e-15 PFAM
Blast:HDc 370 431 1e-20 BLAST
HDc 515 698 3.01e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162412
AA Change: T715A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: T715A

DomainStartEndE-ValueType
Pfam:Response_reg 29 147 2.3e-15 PFAM
PAS 164 231 3.59e-3 SMART
Blast:HDc 312 373 1e-20 BLAST
HDc 457 640 3.01e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172104
AA Change: T815A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: T815A

DomainStartEndE-ValueType
Pfam:PDE8 1 52 2.2e-39 PFAM
low complexity region 75 98 N/A INTRINSIC
Pfam:Response_reg 134 252 2.8e-15 PFAM
PAS 269 336 3.59e-3 SMART
HDc 557 740 3.01e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220923
Predicted Effect probably benign
Transcript: ENSMUST00000162670
SMART Domains Protein: ENSMUSP00000125237
Gene: ENSMUSG00000021684

DomainStartEndE-ValueType
Pfam:PDEase_I 1 182 6.6e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223486
Meta Mutation Damage Score 0.1108 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 86.8%
Validation Efficiency 94% (65/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased uring corticosterone, decreased serum adrenocorticotropin and decreased sensitivity to a PDE8-selective inhibitor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,172 (GRCm39) F292S probably benign Het
Aadacl2fm3 A T 3: 59,772,760 (GRCm39) D88V probably damaging Het
Abca13 T C 11: 9,242,646 (GRCm39) V1503A probably damaging Het
AI661453 C T 17: 47,777,627 (GRCm39) probably benign Het
Ano2 T C 6: 125,844,134 (GRCm39) probably null Het
Areg G T 5: 91,287,664 (GRCm39) probably benign Het
Atg16l2 A G 7: 100,940,757 (GRCm39) V453A probably damaging Het
BC034090 A G 1: 155,101,662 (GRCm39) S563P probably benign Het
Bhmt-ps1 A G 4: 26,369,591 (GRCm39) noncoding transcript Het
Birc6 C A 17: 74,959,700 (GRCm39) P3855Q probably damaging Het
Cd151 A T 7: 141,049,197 (GRCm39) K8M probably damaging Het
Cd163 T C 6: 124,304,890 (GRCm39) V1089A possibly damaging Het
Chd3 A T 11: 69,248,400 (GRCm39) probably null Het
Cnot6l T A 5: 96,281,971 (GRCm39) E9V probably damaging Het
Col22a1 A G 15: 71,794,806 (GRCm39) probably benign Het
Cyp2c68 A G 19: 39,729,484 (GRCm39) M1T probably null Het
Dbp T C 7: 45,357,879 (GRCm39) V149A probably damaging Het
Dnah10 T C 5: 124,839,285 (GRCm39) V1241A probably benign Het
Galnt10 T C 11: 57,662,295 (GRCm39) S314P probably damaging Het
Glce C T 9: 61,977,292 (GRCm39) probably null Het
Gm5093 C G 17: 46,750,680 (GRCm39) D116H probably damaging Het
Golim4 A G 3: 75,785,951 (GRCm39) probably null Het
Helz2 A T 2: 180,877,317 (GRCm39) I1107N probably damaging Het
Hoxc9 T C 15: 102,890,304 (GRCm39) S74P probably benign Het
Ikbkb T A 8: 23,163,419 (GRCm39) N297I probably benign Het
Il20ra T A 10: 19,625,000 (GRCm39) I93N probably damaging Het
Itch C A 2: 155,034,065 (GRCm39) N412K probably damaging Het
Kcna5 T A 6: 126,511,724 (GRCm39) T135S probably damaging Het
Lncpint G A 6: 31,157,974 (GRCm39) noncoding transcript Het
Lrrc39 A T 3: 116,373,293 (GRCm39) probably null Het
Mad2l1 T A 6: 66,516,797 (GRCm39) V163E possibly damaging Het
Moxd1 C T 10: 24,120,256 (GRCm39) T128M probably damaging Het
Mpeg1 C T 19: 12,439,823 (GRCm39) S427F probably damaging Het
Nckap5 T C 1: 125,953,798 (GRCm39) Y854C possibly damaging Het
Ncln C T 10: 81,325,727 (GRCm39) E373K probably damaging Het
Neurod4 T C 10: 130,106,540 (GRCm39) T245A possibly damaging Het
Nsun5 T C 5: 135,399,067 (GRCm39) L39P probably damaging Het
Or2ad1 G T 13: 21,327,162 (GRCm39) Q22K probably benign Het
Or4c105 A T 2: 88,648,336 (GRCm39) T274S possibly damaging Het
Or4f7 A G 2: 111,644,906 (GRCm39) L55S probably damaging Het
Pofut2 C T 10: 77,104,398 (GRCm39) R392W probably damaging Het
Ppip5k2 G A 1: 97,639,507 (GRCm39) T1186I probably benign Het
Rhot2 A C 17: 26,060,374 (GRCm39) S277R probably benign Het
Satb1 T G 17: 52,111,391 (GRCm39) probably null Het
Sec31b T C 19: 44,524,634 (GRCm39) I88V probably damaging Het
Selenon T A 4: 134,267,997 (GRCm39) E483V probably damaging Het
Serpinc1 A G 1: 160,820,981 (GRCm39) T22A possibly damaging Het
Sf3a2 G A 10: 80,640,040 (GRCm39) probably benign Het
Sf3b1 A G 1: 55,040,580 (GRCm39) Y561H possibly damaging Het
Smarcc1 T A 9: 109,947,708 (GRCm39) probably benign Het
Stard3nl C T 13: 19,556,819 (GRCm39) R107Q probably damaging Het
Syce1 C T 7: 140,357,593 (GRCm39) R324H possibly damaging Het
Tnk1 G T 11: 69,743,119 (GRCm39) probably benign Het
Trim46 A G 3: 89,150,968 (GRCm39) F198L probably damaging Het
Trip4 A T 9: 65,788,233 (GRCm39) W71R probably damaging Het
Ubox5 A C 2: 130,439,213 (GRCm39) probably benign Het
Ust G A 10: 8,183,202 (GRCm39) T167M probably damaging Het
Zbtb2 T C 10: 4,318,697 (GRCm39) Q443R probably benign Het
Zfp407 A G 18: 84,361,196 (GRCm39) probably benign Het
Other mutations in Pde8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Pde8b APN 13 95,170,875 (GRCm39) missense probably damaging 1.00
IGL01517:Pde8b APN 13 95,237,395 (GRCm39) critical splice donor site probably null
IGL01736:Pde8b APN 13 95,166,910 (GRCm39) missense probably damaging 1.00
IGL01756:Pde8b APN 13 95,182,895 (GRCm39) missense probably damaging 1.00
IGL01867:Pde8b APN 13 95,237,446 (GRCm39) missense probably damaging 0.99
IGL01939:Pde8b APN 13 95,232,232 (GRCm39) missense probably damaging 0.98
IGL02026:Pde8b APN 13 95,170,869 (GRCm39) missense probably damaging 1.00
IGL02685:Pde8b APN 13 95,162,628 (GRCm39) makesense probably null
IGL02830:Pde8b APN 13 95,189,409 (GRCm39) missense probably benign 0.02
IGL02966:Pde8b APN 13 95,232,156 (GRCm39) missense probably damaging 0.96
IGL03003:Pde8b APN 13 95,178,465 (GRCm39) missense probably damaging 1.00
IGL03064:Pde8b APN 13 95,182,906 (GRCm39) missense probably damaging 1.00
IGL03349:Pde8b APN 13 95,179,551 (GRCm39) splice site probably benign
R0356:Pde8b UTSW 13 95,182,962 (GRCm39) missense probably damaging 0.96
R0464:Pde8b UTSW 13 95,241,206 (GRCm39) missense probably damaging 1.00
R0711:Pde8b UTSW 13 95,244,325 (GRCm39) missense possibly damaging 0.87
R1467:Pde8b UTSW 13 95,170,680 (GRCm39) missense probably damaging 0.99
R1467:Pde8b UTSW 13 95,170,680 (GRCm39) missense probably damaging 0.99
R1494:Pde8b UTSW 13 95,184,304 (GRCm39) missense probably damaging 1.00
R1546:Pde8b UTSW 13 95,182,951 (GRCm39) missense probably damaging 1.00
R1699:Pde8b UTSW 13 95,169,374 (GRCm39) missense probably damaging 1.00
R1795:Pde8b UTSW 13 95,178,527 (GRCm39) missense probably benign 0.10
R1879:Pde8b UTSW 13 95,221,723 (GRCm39) missense possibly damaging 0.95
R2184:Pde8b UTSW 13 95,162,723 (GRCm39) missense probably damaging 1.00
R2223:Pde8b UTSW 13 95,179,955 (GRCm39) missense probably damaging 1.00
R2892:Pde8b UTSW 13 95,170,767 (GRCm39) missense probably damaging 1.00
R3034:Pde8b UTSW 13 95,359,275 (GRCm39) missense probably damaging 1.00
R4204:Pde8b UTSW 13 95,359,053 (GRCm39) missense probably benign 0.22
R4206:Pde8b UTSW 13 95,359,053 (GRCm39) missense probably benign 0.22
R4623:Pde8b UTSW 13 95,178,447 (GRCm39) missense possibly damaging 0.69
R4711:Pde8b UTSW 13 95,166,958 (GRCm39) missense probably benign 0.00
R5133:Pde8b UTSW 13 95,223,250 (GRCm39) missense probably benign 0.05
R5134:Pde8b UTSW 13 95,223,250 (GRCm39) missense probably benign 0.05
R5314:Pde8b UTSW 13 95,223,361 (GRCm39) missense possibly damaging 0.89
R5342:Pde8b UTSW 13 95,178,498 (GRCm39) missense probably damaging 0.99
R5376:Pde8b UTSW 13 95,162,654 (GRCm39) missense probably benign 0.00
R5806:Pde8b UTSW 13 95,178,548 (GRCm39) missense probably damaging 1.00
R5830:Pde8b UTSW 13 95,178,398 (GRCm39) missense probably benign 0.01
R6021:Pde8b UTSW 13 95,162,670 (GRCm39) missense possibly damaging 0.47
R6035:Pde8b UTSW 13 95,164,105 (GRCm39) intron probably benign
R6035:Pde8b UTSW 13 95,164,105 (GRCm39) intron probably benign
R6129:Pde8b UTSW 13 95,178,467 (GRCm39) missense probably damaging 0.98
R6181:Pde8b UTSW 13 95,223,316 (GRCm39) missense probably benign 0.36
R6313:Pde8b UTSW 13 95,178,508 (GRCm39) nonsense probably null
R6849:Pde8b UTSW 13 95,184,307 (GRCm39) missense possibly damaging 0.89
R6914:Pde8b UTSW 13 95,223,352 (GRCm39) missense probably benign 0.06
R6999:Pde8b UTSW 13 95,223,342 (GRCm39) missense possibly damaging 0.91
R7149:Pde8b UTSW 13 95,223,349 (GRCm39) missense probably benign 0.03
R7275:Pde8b UTSW 13 95,179,442 (GRCm39) missense probably damaging 1.00
R7483:Pde8b UTSW 13 95,164,251 (GRCm39) missense probably damaging 1.00
R7553:Pde8b UTSW 13 95,223,258 (GRCm39) missense probably benign 0.21
R7790:Pde8b UTSW 13 95,170,679 (GRCm39) missense probably benign 0.00
R7802:Pde8b UTSW 13 95,237,446 (GRCm39) missense probably damaging 0.99
R7852:Pde8b UTSW 13 95,244,205 (GRCm39) missense probably damaging 1.00
R7872:Pde8b UTSW 13 95,223,347 (GRCm39) missense possibly damaging 0.51
R7897:Pde8b UTSW 13 95,244,202 (GRCm39) missense probably benign 0.01
R8144:Pde8b UTSW 13 95,359,278 (GRCm39) missense probably damaging 0.99
R8792:Pde8b UTSW 13 95,179,534 (GRCm39) missense probably benign
R8850:Pde8b UTSW 13 95,226,793 (GRCm39) missense probably benign 0.01
R8905:Pde8b UTSW 13 95,182,993 (GRCm39) missense probably damaging 1.00
R9252:Pde8b UTSW 13 95,169,424 (GRCm39) missense probably damaging 1.00
R9256:Pde8b UTSW 13 95,164,204 (GRCm39) missense probably damaging 1.00
R9582:Pde8b UTSW 13 95,169,369 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACAAGGGCACGCAGGCTAAC -3'
(R):5'- GGATACACATGCACACAGATGCCAG -3'

Sequencing Primer
(F):5'- AGGCAGCTCGTTTTGTCAC -3'
(R):5'- tctgtcccctagagctgag -3'
Posted On 2014-03-14