Incidental Mutation 'R5133:Pde8b'
ID 395963
Institutional Source Beutler Lab
Gene Symbol Pde8b
Ensembl Gene ENSMUSG00000021684
Gene Name phosphodiesterase 8B
Synonyms B230331L10Rik, C030047E14Rik
MMRRC Submission 042721-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R5133 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 95160962-95386844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95223250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 335 (I335V)
Ref Sequence ENSEMBL: ENSMUSP00000128987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022192] [ENSMUST00000067082] [ENSMUST00000159608] [ENSMUST00000160957] [ENSMUST00000162153] [ENSMUST00000162292] [ENSMUST00000172104] [ENSMUST00000162412]
AlphaFold E9Q4S1
Predicted Effect probably benign
Transcript: ENSMUST00000022192
SMART Domains Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684

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: ENSMUST00000067082
AA Change: I315V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: I315V

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: ENSMUST00000159608
SMART Domains Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684

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 benign
Transcript: ENSMUST00000162153
AA Change: I230V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: I230V

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
SMART Domains Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684

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: ENSMUST00000172104
AA Change: I335V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: I335V

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 probably benign
Transcript: ENSMUST00000162412
AA Change: I230V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: I230V

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 noncoding transcript
Transcript: ENSMUST00000162328
Meta Mutation Damage Score 0.2504 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
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 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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A T 4: 128,655,934 (GRCm39) T101S probably damaging Het
Abraxas2 C T 7: 132,484,875 (GRCm39) A306V probably benign Het
Acvr1c T A 2: 58,173,518 (GRCm39) N248I probably damaging Het
Adgrv1 C T 13: 81,587,560 (GRCm39) R4537Q probably damaging Het
Adrb3 A C 8: 27,717,798 (GRCm39) M217R probably damaging Het
Afg3l1 T C 8: 124,216,532 (GRCm39) V257A probably benign Het
Agbl1 C A 7: 76,071,904 (GRCm39) Q334K probably benign Het
Aox4 A T 1: 58,275,835 (GRCm39) D389V probably benign Het
Apob A T 12: 8,058,898 (GRCm39) Q2427L probably damaging Het
Asxl3 T C 18: 22,649,765 (GRCm39) C585R probably damaging Het
Baz2a G A 10: 127,951,995 (GRCm39) G571D probably damaging Het
Baz2b A T 2: 59,792,368 (GRCm39) S587T probably benign Het
Bicdl2 T C 17: 23,880,795 (GRCm39) L14P unknown Het
Cachd1 G A 4: 100,851,935 (GRCm39) S1177N probably damaging Het
Cacna2d3 A G 14: 29,015,135 (GRCm39) F86L possibly damaging Het
Ccdc192 C T 18: 57,697,041 (GRCm39) T65I possibly damaging Het
Cd3d A T 9: 44,896,296 (GRCm39) E28D probably damaging Het
Cmya5 T C 13: 93,229,880 (GRCm39) K1736R possibly damaging Het
Col12a1 A G 9: 79,512,456 (GRCm39) V2913A probably damaging Het
Cops8 A G 1: 90,538,724 (GRCm39) D51G probably damaging Het
Csgalnact1 T C 8: 68,913,623 (GRCm39) E194G probably benign Het
Csn1s1 A G 5: 87,828,737 (GRCm39) D267G possibly damaging Het
Cyp2c40 T C 19: 39,795,663 (GRCm39) N172S probably benign Het
Dhtkd1 T A 2: 5,908,813 (GRCm39) K760N probably damaging Het
Dnah17 T C 11: 118,007,939 (GRCm39) K691E probably benign Het
Dppa4 G A 16: 48,113,334 (GRCm39) R189Q probably benign Het
Dsp G A 13: 38,381,678 (GRCm39) D2808N possibly damaging Het
Egr2 A G 10: 67,375,605 (GRCm39) E17G probably damaging Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Epas1 A G 17: 87,116,882 (GRCm39) N184S probably damaging Het
Ezh2 C T 6: 47,517,684 (GRCm39) C584Y probably damaging Het
F10 T C 8: 13,105,698 (GRCm39) V421A probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam186a T G 15: 99,853,374 (GRCm39) D122A unknown Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fam234b T C 6: 135,186,193 (GRCm39) V67A probably benign Het
Fbn2 T C 18: 58,172,412 (GRCm39) D2131G probably damaging Het
Fgfr4 T C 13: 55,307,828 (GRCm39) Y271H probably damaging Het
Gnmt A T 17: 47,036,860 (GRCm39) S250T probably benign Het
Golgb1 C A 16: 36,711,819 (GRCm39) Q208K possibly damaging Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Grwd1 T C 7: 45,475,298 (GRCm39) T415A probably benign Het
Gsk3b G A 16: 38,060,882 (GRCm39) R418H probably damaging Het
Hap1 T G 11: 100,242,357 (GRCm39) M382L probably benign Het
Hspa12b A G 2: 130,981,428 (GRCm39) E221G possibly damaging Het
Hspa4l T A 3: 40,741,179 (GRCm39) D709E possibly damaging Het
Il17ra A G 6: 120,458,514 (GRCm39) E555G possibly damaging Het
Il27ra T C 8: 84,760,688 (GRCm39) T426A possibly damaging Het
Jup T C 11: 100,273,941 (GRCm39) D200G probably benign Het
Kcnq1 T C 7: 142,748,083 (GRCm39) probably null Het
Kctd9 C T 14: 67,966,805 (GRCm39) T106I probably damaging Het
Kmt5b T A 19: 3,852,240 (GRCm39) H159Q probably damaging Het
Kprp C T 3: 92,731,829 (GRCm39) R407Q unknown Het
Kras T C 6: 145,177,879 (GRCm39) Q131R probably benign Het
Krt16 T A 11: 100,138,457 (GRCm39) R230S probably damaging Het
Lpar6 G A 14: 73,476,147 (GRCm39) C36Y probably damaging Het
Lrp10 T C 14: 54,707,067 (GRCm39) S635P probably benign Het
Mapre2 C A 18: 23,991,190 (GRCm39) H153N possibly damaging Het
Mark3 C A 12: 111,621,762 (GRCm39) R703S probably damaging Het
Mboat2 A G 12: 25,009,065 (GRCm39) D457G probably benign Het
Med13 T C 11: 86,210,675 (GRCm39) D489G probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Mtus1 T C 8: 41,536,229 (GRCm39) T496A probably benign Het
Nckap5 T C 1: 125,961,697 (GRCm39) H204R probably benign Het
Nlrc4 G T 17: 74,753,712 (GRCm39) P224T possibly damaging Het
Oprl1 T A 2: 181,360,403 (GRCm39) I153N probably damaging Het
Or13a27 A T 7: 139,925,236 (GRCm39) I222N probably damaging Het
Or4c116 A T 2: 88,942,140 (GRCm39) probably null Het
Or5an1 T C 19: 12,260,670 (GRCm39) L86P possibly damaging Het
Or5b121 T A 19: 13,507,442 (GRCm39) M135K probably damaging Het
Otud4 G A 8: 80,382,318 (GRCm39) V176I probably damaging Het
Pcdhb5 T C 18: 37,453,943 (GRCm39) F108L probably benign Het
Pdzd7 T A 19: 45,016,868 (GRCm39) I886L possibly damaging Het
Prune2 C T 19: 16,980,995 (GRCm39) P51S probably damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwwp3a T C 10: 80,068,702 (GRCm39) L282P probably benign Het
Rab27b T C 18: 70,122,659 (GRCm39) D100G probably damaging Het
Rpf1 A G 3: 146,212,293 (GRCm39) L349S probably damaging Het
Samd14 T C 11: 94,912,409 (GRCm39) S233P probably damaging Het
Sema6a C A 18: 47,433,195 (GRCm39) V79F probably damaging Het
Setbp1 A G 18: 78,900,697 (GRCm39) I990T probably damaging Het
Setx A G 2: 29,070,093 (GRCm39) R2633G probably benign Het
Siae T G 9: 37,557,816 (GRCm39) I541S possibly damaging Het
Slc13a1 A G 6: 24,103,428 (GRCm39) S372P possibly damaging Het
Smarcc2 T C 10: 128,297,342 (GRCm39) probably null Het
Snrpf T C 10: 93,423,985 (GRCm39) S2G probably benign Het
Speer2 C A 16: 69,655,708 (GRCm39) K39N probably null Het
Spink5 T G 18: 44,119,490 (GRCm39) F267C probably damaging Het
Tgfbrap1 G T 1: 43,114,666 (GRCm39) R145S probably damaging Het
Tmem161b C A 13: 84,442,887 (GRCm39) T269K possibly damaging Het
Tmem64 T C 4: 15,281,119 (GRCm39) I304T probably damaging Het
Tomm7 A G 5: 24,049,004 (GRCm39) I23T probably benign Het
Top6bl T A 19: 4,708,449 (GRCm39) S194C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttr C T 18: 20,803,167 (GRCm39) A111V possibly damaging Het
Usp47 T A 7: 111,683,089 (GRCm39) Y561N probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Wdr45b A G 11: 121,219,621 (GRCm39) I309T probably benign Het
Wnt6 T C 1: 74,823,755 (GRCm39) L364P probably damaging Het
Zc3h13 T C 14: 75,573,449 (GRCm39) L1530P probably damaging Het
Zfp933 A G 4: 147,911,321 (GRCm39) W60R 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
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
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'- GGCCTTCCACAAAGCAATTAG -3'
(R):5'- GTATACCTGTATCCCCACAGC -3'

Sequencing Primer
(F):5'- GCAATTAGCTCCCGTGGCATC -3'
(R):5'- CCACAGCCTCCCAGTAGG -3'
Posted On 2016-06-21