Incidental Mutation 'R7553:Pde8b'
ID 584571
Institutional Source Beutler Lab
Gene Symbol Pde8b
Ensembl Gene ENSMUSG00000021684
Gene Name phosphodiesterase 8B
Synonyms B230331L10Rik, C030047E14Rik
MMRRC Submission 045622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R7553 (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 C at 95223258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 227 (N227S)
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 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: N312S

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: N312S

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: N227S

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: N227S

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: ENSMUST00000162412
AA Change: N227S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: N227S

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 possibly damaging
Transcript: ENSMUST00000172104
AA Change: N332S

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: N332S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,648,545 (GRCm39) L649P probably damaging Het
Acad10 T C 5: 121,777,318 (GRCm39) Y371C probably damaging Het
Avp A G 2: 130,423,098 (GRCm39) V71A probably damaging Het
Bhmt C T 13: 93,756,589 (GRCm39) probably null Het
Capn15 T C 17: 26,179,738 (GRCm39) E874G probably damaging Het
Capn5 A G 7: 97,773,231 (GRCm39) F591S probably damaging Het
Ccne2 A T 4: 11,201,348 (GRCm39) Q292L probably benign Het
Cd96 T G 16: 45,872,384 (GRCm39) T406P probably damaging Het
Csnk1e G A 15: 79,310,566 (GRCm39) A153V probably damaging Het
Dlk1 G A 12: 109,420,889 (GRCm39) V15I unknown Het
Dmbt1 A G 7: 130,706,597 (GRCm39) N1372S unknown Het
Dntt A T 19: 41,017,926 (GRCm39) R17W probably damaging Het
Erich3 G T 3: 154,439,137 (GRCm39) A260S probably benign Het
Foxp2 C T 6: 15,437,881 (GRCm39) S669L unknown Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Grid2 A G 6: 64,053,925 (GRCm39) K375E possibly damaging Het
Grin2b C T 6: 135,749,394 (GRCm39) G603S possibly damaging Het
Hexb C T 13: 97,334,681 (GRCm39) R30Q probably benign Het
Homer3 A T 8: 70,742,774 (GRCm39) T162S probably benign Het
L3mbtl1 A G 2: 162,790,151 (GRCm39) E15G probably benign Het
Manea A T 4: 26,327,986 (GRCm39) F352I probably damaging Het
Mcf2l T A 8: 13,047,268 (GRCm39) M210K probably benign Het
Morc3 T C 16: 93,667,824 (GRCm39) L734P probably damaging Het
Mybpc2 A G 7: 44,155,571 (GRCm39) V894A possibly damaging Het
Myh4 T A 11: 67,147,221 (GRCm39) M1622K probably damaging Het
Myrf A G 19: 10,206,240 (GRCm39) F59L probably benign Het
Ndst3 G T 3: 123,350,709 (GRCm39) probably null Het
Nln TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC 13: 104,186,924 (GRCm39) probably null Het
Nos3 A T 5: 24,586,715 (GRCm39) D986V possibly damaging Het
Nrp1 G A 8: 129,158,468 (GRCm39) A252T probably damaging Het
Nup205 G T 6: 35,178,934 (GRCm39) R668L probably damaging Het
Or51aa2 T C 7: 103,188,363 (GRCm39) Y26C probably damaging Het
Or5af2 T A 11: 58,707,886 (GRCm39) D17E probably benign Het
Or5p56 G A 7: 107,589,682 (GRCm39) V37I probably benign Het
Pcdhga1 T A 18: 37,882,735 (GRCm39) probably null Het
Pck1 A G 2: 172,998,860 (GRCm39) I373V probably benign Het
Pianp T G 6: 124,976,214 (GRCm39) S8A unknown Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2r1 A T 2: 60,353,243 (GRCm39) N239K possibly damaging Het
Pls1 T A 9: 95,669,140 (GRCm39) N27I probably damaging Het
Prep T C 10: 45,034,620 (GRCm39) *711Q probably null Het
Prkag3 A G 1: 74,783,894 (GRCm39) F330L probably damaging Het
Prss56 A G 1: 87,111,261 (GRCm39) D16G probably benign Het
Rad17 A T 13: 100,769,794 (GRCm39) F255Y probably damaging Het
Rap1gap2 T C 11: 74,326,548 (GRCm39) E173G probably damaging Het
Retreg3 C T 11: 100,997,216 (GRCm39) R88H possibly damaging Het
Rhag G A 17: 41,139,286 (GRCm39) G74R probably damaging Het
Rybp A G 6: 100,209,220 (GRCm39) S201P possibly damaging Het
S100a10 G A 3: 93,471,602 (GRCm39) C62Y probably benign Het
Scgb2b3 T A 7: 31,059,673 (GRCm39) S34C possibly damaging Het
Serpind1 A G 16: 17,154,539 (GRCm39) D122G probably benign Het
Setdb1 A G 3: 95,254,076 (GRCm39) L242P probably damaging Het
Slc14a2 T A 18: 78,198,803 (GRCm39) I776F probably damaging Het
Slc9a1 A G 4: 133,139,580 (GRCm39) E266G probably damaging Het
Stard9 A T 2: 120,524,289 (GRCm39) probably null Het
Stpg2 A G 3: 138,924,098 (GRCm39) Y167C probably damaging Het
Tex264 T C 9: 106,536,335 (GRCm39) E274G probably damaging Het
Tigd2 G A 6: 59,188,564 (GRCm39) S477N probably benign Het
Urb1 A G 16: 90,589,752 (GRCm39) L343P probably damaging Het
Vars2 A T 17: 35,975,680 (GRCm39) C246S possibly damaging Het
Vil1 G A 1: 74,465,891 (GRCm39) probably null Het
Vmn2r61 C G 7: 41,916,205 (GRCm39) L273V not run Het
Vmn2r-ps158 T G 7: 42,697,447 (GRCm39) C835G probably damaging Het
Zfp37 C A 4: 62,110,236 (GRCm39) G317V probably damaging Het
Zfp760 A G 17: 21,941,872 (GRCm39) K349R possibly damaging Het
Zyx A T 6: 42,327,408 (GRCm39) E69V 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
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
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'- AATTAGCTCCCGTGGCATCC -3'
(R):5'- AACCTTTGGCTCTGTATACCTG -3'

Sequencing Primer
(F):5'- CCGGTTGGCATTGAAAATTAACCC -3'
(R):5'- GTATACCTGTATCCCCACAGC -3'
Posted On 2019-10-17