Incidental Mutation 'R6035:Pde8b'
ID 486534
Institutional Source Beutler Lab
Gene Symbol Pde8b
Ensembl Gene ENSMUSG00000021684
Gene Name phosphodiesterase 8B
Synonyms B230331L10Rik, C030047E14Rik
MMRRC Submission 044207-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R6035 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 95160962-95386844 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 95164105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
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: 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
SMART Domains Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684

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
SMART Domains Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684

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 unknown
Transcript: ENSMUST00000162670
AA Change: S175P
SMART Domains Protein: ENSMUSP00000125237
Gene: ENSMUSG00000021684
AA Change: S175P

DomainStartEndE-ValueType
Pfam:PDEase_I 1 182 6.6e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220923
Predicted Effect probably benign
Transcript: ENSMUST00000162412
SMART Domains Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684

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
SMART Domains Protein: ENSMUSP00000128987
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 2.8e-15 PFAM
PAS 269 336 3.59e-3 SMART
HDc 557 740 3.01e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 84% (62/74)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,615,353 (GRCm39) G76W probably damaging Het
Abca17 A T 17: 24,500,219 (GRCm39) F1324Y possibly damaging Het
Abca8b A T 11: 109,862,686 (GRCm39) probably null Het
Abcc12 A G 8: 87,244,033 (GRCm39) M1040T probably damaging Het
Abtb1 A G 6: 88,818,788 (GRCm39) F7L probably damaging Het
Adcy9 T C 16: 4,122,377 (GRCm39) T558A probably benign Het
Adgrb1 A T 15: 74,412,292 (GRCm39) T424S possibly damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankrd31 C A 13: 96,968,721 (GRCm39) P786Q probably benign Het
Arhgap39 G T 15: 76,621,424 (GRCm39) Y392* probably null Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Carmil2 G T 8: 106,419,195 (GRCm39) W749L probably benign Het
Ccar1 A G 10: 62,587,564 (GRCm39) Y867H unknown Het
Cdh13 A G 8: 119,232,437 (GRCm39) D47G probably benign Het
Chst9 T A 18: 15,585,910 (GRCm39) T218S probably benign Het
Clec2i G A 6: 128,870,587 (GRCm39) V67I probably benign Het
Cox7a2 T A 9: 79,667,028 (GRCm39) probably benign Het
Cplx3 A G 9: 57,519,030 (GRCm39) probably null Het
Cpz A G 5: 35,674,929 (GRCm39) C107R probably damaging Het
Dapk1 T A 13: 60,909,013 (GRCm39) C1209S possibly damaging Het
Ddx41 T C 13: 55,681,781 (GRCm39) M307V probably benign Het
Defa24 A G 8: 22,224,565 (GRCm39) I5V probably benign Het
Dgcr8 A T 16: 18,076,178 (GRCm39) N2K probably damaging Het
Ebf2 A G 14: 67,476,423 (GRCm39) D131G probably damaging Het
Fam149b C T 14: 20,427,985 (GRCm39) R424C probably damaging Het
Fbln2 G A 6: 91,240,335 (GRCm39) V714M probably damaging Het
Fgf5 T C 5: 98,423,385 (GRCm39) Y257H probably damaging Het
Fmo3 A C 1: 162,791,605 (GRCm39) V224G probably damaging Het
Gigyf2 T C 1: 87,338,450 (GRCm39) I394T possibly damaging Het
Glmn T A 5: 107,741,746 (GRCm39) probably null Het
Greb1l T C 18: 10,501,025 (GRCm39) I385T possibly damaging Het
Grhl1 C A 12: 24,658,449 (GRCm39) Q365K probably benign Het
Gsdme G A 6: 50,206,306 (GRCm39) T179M probably damaging Het
Gtf2a1l A G 17: 89,018,962 (GRCm39) T349A probably benign Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,226 (GRCm39) T76I probably damaging Het
Itga8 T C 2: 12,196,525 (GRCm39) T631A probably benign Het
Kcnh6 G A 11: 105,909,978 (GRCm39) probably null Het
Krt26 C T 11: 99,224,415 (GRCm39) E368K probably benign Het
Lhx9 T C 1: 138,766,281 (GRCm39) D169G possibly damaging Het
Lmod3 A G 6: 97,224,234 (GRCm39) L529P probably damaging Het
Nup155 A G 15: 8,173,577 (GRCm39) T891A probably benign Het
Or11g24 A G 14: 50,661,984 (GRCm39) T3A probably benign Het
Or1e1 T C 11: 73,244,582 (GRCm39) M1T probably null Het
Or1j13 T A 2: 36,369,996 (GRCm39) I49F probably damaging Het
Or1p4-ps1 T C 11: 74,208,285 (GRCm39) *145R probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Papln G C 12: 83,821,454 (GRCm39) G262A probably damaging Het
Pdcd1lg2 G A 19: 29,423,435 (GRCm39) V160I probably benign Het
Ppme1 G A 7: 100,004,002 (GRCm39) R68* probably null Het
Prob1 T C 18: 35,787,835 (GRCm39) S140G probably benign Het
Ptprn2 A T 12: 117,219,215 (GRCm39) N949Y probably damaging Het
Qser1 C A 2: 104,617,468 (GRCm39) D1115Y probably damaging Het
Rad54l G T 4: 115,954,666 (GRCm39) D674E probably damaging Het
Ripk4 T A 16: 97,545,387 (GRCm39) D420V probably damaging Het
Ros1 G T 10: 51,954,067 (GRCm39) S1857R probably benign Het
Rsf1 A G 7: 97,311,316 (GRCm39) E682G probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Samd4 G A 14: 47,325,329 (GRCm39) R515H probably damaging Het
Selp T A 1: 163,969,079 (GRCm39) W560R probably benign Het
Shc3 A T 13: 51,615,468 (GRCm39) L163Q probably damaging Het
Shh G A 5: 28,666,397 (GRCm39) A163V probably damaging Het
Slc17a8 T C 10: 89,427,937 (GRCm39) R113G possibly damaging Het
Slc5a6 C A 5: 31,206,168 (GRCm39) probably benign Het
Smarcd2 A G 11: 106,157,715 (GRCm39) probably null Het
Sytl3 A G 17: 6,995,664 (GRCm39) D148G probably damaging Het
Tnks G T 8: 35,385,615 (GRCm39) H297Q possibly damaging Het
Trbv21 A T 6: 41,179,568 (GRCm39) probably benign Het
Ube3c T C 5: 29,806,161 (GRCm39) F268L probably benign Het
Ugt2b5 T C 5: 87,287,541 (GRCm39) I209V probably benign Het
Usp1 A G 4: 98,818,082 (GRCm39) N140S probably damaging Het
Vcam1 T C 3: 115,919,606 (GRCm39) Y226C probably damaging Het
Vmn1r129 T A 7: 21,094,534 (GRCm39) Q228L probably damaging Het
Vmn1r209 T A 13: 22,990,202 (GRCm39) N163Y probably benign Het
Vmn1r85 A G 7: 12,818,854 (GRCm39) S97P probably damaging Het
Vmn2r30 C T 7: 7,337,350 (GRCm39) M95I probably benign Het
Vmn2r74 G A 7: 85,601,098 (GRCm39) R847C probably damaging Het
Wdr70 G A 15: 7,916,830 (GRCm39) T529I possibly damaging Het
Zfp532 T G 18: 65,757,005 (GRCm39) S313A possibly damaging Het
Zhx3 A T 2: 160,621,463 (GRCm39) N901K 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
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
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'- CCACAGAAGGCTTGTGGC -3'
(R):5'- AGGGACTCTCTCATGTGCCC -3'

Sequencing Primer
(F):5'- AGTTGATCTGCCTAGACAGC -3'
(R):5'- TCATGTGCCCACAGCCCTG -3'
Posted On 2017-08-16