Incidental Mutation 'R7275:Pde8b'
ID 565533
Institutional Source Beutler Lab
Gene Symbol Pde8b
Ensembl Gene ENSMUSG00000021684
Gene Name phosphodiesterase 8B
Synonyms B230331L10Rik, C030047E14Rik
MMRRC Submission 045358-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7275 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 95160962-95386844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95179442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 405 (N405Y)
Ref Sequence ENSEMBL: ENSMUSP00000124409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022192] [ENSMUST00000067082] [ENSMUST00000159608] [ENSMUST00000160957] [ENSMUST00000162153] [ENSMUST00000162292] [ENSMUST00000162412] [ENSMUST00000172104]
AlphaFold E9Q4S1
Predicted Effect probably damaging
Transcript: ENSMUST00000022192
AA Change: N513Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684
AA Change: N513Y

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 damaging
Transcript: ENSMUST00000067082
AA Change: N540Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: N540Y

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 damaging
Transcript: ENSMUST00000159608
AA Change: N513Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684
AA Change: N513Y

DomainStartEndE-ValueType
Pfam:PDE8 1 52 1.7e-39 PFAM
low complexity region 75 98 N/A INTRINSIC
Pfam:Response_reg 134 252 2.1e-15 PFAM
Blast:HDc 420 481 1e-20 BLAST
HDc 565 666 9.37e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160957
SMART Domains Protein: ENSMUSP00000125115
Gene: ENSMUSG00000021684

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:Response_reg 30 148 5.7e-16 PFAM
Blast:PAS 165 188 1e-7 BLAST
Blast:HDc 266 327 1e-21 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000162153
AA Change: N455Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: N455Y

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 damaging
Transcript: ENSMUST00000162292
AA Change: N463Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684
AA Change: N463Y

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 damaging
Transcript: ENSMUST00000162412
AA Change: N405Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: N405Y

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 damaging
Transcript: ENSMUST00000172104
AA Change: N505Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: N505Y

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
Meta Mutation Damage Score 0.1889 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (64/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T A 12: 72,956,795 (GRCm39) T132S possibly damaging Het
4933412E24Rik A G 15: 59,887,738 (GRCm39) V234A probably benign Het
Abtb3 T A 10: 85,490,346 (GRCm39) L1004Q probably damaging Het
Acsm5 A G 7: 119,136,511 (GRCm39) T361A possibly damaging Het
Agxt2 G A 15: 10,358,753 (GRCm39) R24H probably benign Het
Asb16 G T 11: 102,159,935 (GRCm39) W96L probably damaging Het
Bche T A 3: 73,607,969 (GRCm39) T486S probably benign Het
Bpnt2 C A 4: 4,792,962 (GRCm39) G48W probably damaging Het
Cast T C 13: 74,875,453 (GRCm39) T382A probably benign Het
Cdcp1 T A 9: 123,014,119 (GRCm39) K218N possibly damaging Het
Ceacam18 G A 7: 43,291,308 (GRCm39) G250D probably damaging Het
Ciao3 T A 17: 25,994,108 (GRCm39) V52E possibly damaging Het
Ctnnd2 T C 15: 30,905,855 (GRCm39) I834T possibly damaging Het
Cyp11b2 C A 15: 74,725,840 (GRCm39) G136W probably damaging Het
Dis3 A G 14: 99,324,925 (GRCm39) V502A probably damaging Het
Dnai2 T A 11: 114,648,054 (GRCm39) M610K unknown Het
Drosha G A 15: 12,846,169 (GRCm39) V435I possibly damaging Het
Dsc2 T A 18: 20,184,236 (GRCm39) R51* probably null Het
Ergic2 A T 6: 148,096,757 (GRCm39) C170S probably damaging Het
Exoc7 A T 11: 116,195,688 (GRCm39) probably null Het
Fbxw25 G T 9: 109,483,660 (GRCm39) A184E Het
Gm4846 T A 1: 166,314,648 (GRCm39) T332S probably benign Het
Greb1l T A 18: 10,544,561 (GRCm39) M1385K probably benign Het
Grik1 T C 16: 87,709,708 (GRCm39) N871S probably benign Het
Il11ra1 T C 4: 41,765,109 (GRCm39) L145P probably damaging Het
Inpp5e A G 2: 26,298,104 (GRCm39) S166P probably benign Het
Kdm4b T A 17: 56,703,333 (GRCm39) L676H probably damaging Het
Lrp2 T A 2: 69,289,875 (GRCm39) K3655* probably null Het
Lrrc74a A G 12: 86,787,753 (GRCm39) N128S probably damaging Het
Map3k14 T C 11: 103,117,848 (GRCm39) E648G probably damaging Het
Mbtps1 A T 8: 120,269,489 (GRCm39) D200E probably benign Het
Mttp T C 3: 137,829,546 (GRCm39) D114G probably benign Het
Mup13 G A 4: 61,182,752 (GRCm39) T101M probably benign Het
Neb T A 2: 52,096,956 (GRCm39) T4953S probably benign Het
Nfasc A C 1: 132,562,001 (GRCm39) L147R probably damaging Het
Obox6 T C 7: 15,567,805 (GRCm39) E214G probably benign Het
Opn3 T C 1: 175,493,039 (GRCm39) N175S probably damaging Het
Or1j12 A T 2: 36,342,851 (GRCm39) M85L probably benign Het
Or8g22 T A 9: 38,958,815 (GRCm39) probably benign Het
Or8k22 C A 2: 86,163,136 (GRCm39) C188F possibly damaging Het
Osbpl3 G T 6: 50,323,410 (GRCm39) D224E probably benign Het
Osr2 A G 15: 35,301,032 (GRCm39) D196G probably damaging Het
Pirb A G 7: 3,719,177 (GRCm39) S571P probably benign Het
Psmc3 T A 2: 90,886,275 (GRCm39) I163N probably damaging Het
Rapgef4 A G 2: 72,038,445 (GRCm39) D532G probably damaging Het
Retreg1 A G 15: 25,971,684 (GRCm39) D208G probably benign Het
Rgsl1 T G 1: 153,679,876 (GRCm39) probably null Het
Ripk4 T C 16: 97,545,157 (GRCm39) T497A probably benign Het
Slc30a2 T A 4: 134,076,581 (GRCm39) probably null Het
Slc6a19 T C 13: 73,834,197 (GRCm39) D335G probably benign Het
Slco4c1 G A 1: 96,799,497 (GRCm39) T113M probably benign Het
Speer1c T C 5: 10,295,192 (GRCm39) N71D Het
Stxbp6 A G 12: 44,948,786 (GRCm39) F108L probably benign Het
Sulf1 T A 1: 12,921,189 (GRCm39) probably null Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Tbc1d19 T A 5: 54,029,618 (GRCm39) D326E probably damaging Het
Trappc14 T C 5: 138,261,839 (GRCm39) S86G probably benign Het
Trgv3 A G 13: 19,427,188 (GRCm39) T24A probably benign Het
Trpm3 T A 19: 22,956,048 (GRCm39) M1170K possibly damaging Het
Tubgcp6 G A 15: 88,987,146 (GRCm39) Q1276* probably null Het
Tyrp1 A G 4: 80,755,821 (GRCm39) K197E possibly damaging Het
Ube3d T C 9: 86,322,679 (GRCm39) D165G probably damaging Het
Zfp212 A G 6: 47,897,678 (GRCm39) T7A probably benign Het
Zhx1 T C 15: 57,917,758 (GRCm39) T163A probably benign Het
Zp2 A T 7: 119,734,576 (GRCm39) probably null 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
R1436:Pde8b UTSW 13 95,162,678 (GRCm39) missense probably benign 0.00
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
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'- AGAATTCCTGGCTCATGGGC -3'
(R):5'- TTTGTTTCTCATGGCAACCCTAAAG -3'

Sequencing Primer
(F):5'- TCCTGGCTCATGGGCACAAAG -3'
(R):5'- TTTCTCATGGCAACCCTAAAGATAAC -3'
Posted On 2019-06-26