Incidental Mutation 'IGL03349:Pde8b'
ID419641
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde8b
Ensembl Gene ENSMUSG00000021684
Gene Namephosphodiesterase 8B
SynonymsB230331L10Rik, C030047E14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL03349
Quality Score
Status
Chromosome13
Chromosomal Location95024454-95250336 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 95043043 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022192] [ENSMUST00000067082] [ENSMUST00000159608] [ENSMUST00000160957] [ENSMUST00000162153] [ENSMUST00000162292] [ENSMUST00000162412] [ENSMUST00000172104]
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
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: 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 noncoding transcript
Transcript: ENSMUST00000160412
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
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 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 noncoding transcript
Transcript: ENSMUST00000162882
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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,481,336 Y3648H probably benign Het
Akr1c20 T A 13: 4,508,250 R172* probably null Het
Apba1 A T 19: 23,917,575 E458D probably benign Het
Atg2a T A 19: 6,258,024 V1590D possibly damaging Het
Atp13a4 A G 16: 29,456,671 S332P probably benign Het
Atp8b2 A T 3: 89,957,817 F163I probably damaging Het
Azin2 A T 4: 128,946,114 Y228* probably null Het
Cd109 C T 9: 78,636,485 H104Y probably benign Het
Ces2a G T 8: 104,734,080 L3F probably damaging Het
Crebbp A G 16: 4,117,358 V889A possibly damaging Het
Crim1 A T 17: 78,355,150 K801* probably null Het
Cxcr1 T C 1: 74,192,528 T112A possibly damaging Het
Cyp1a2 A G 9: 57,679,875 S378P possibly damaging Het
Cyp2c67 T C 19: 39,643,684 Y80C probably damaging Het
Dennd4a T C 9: 64,888,974 W761R probably damaging Het
Dgki C T 6: 37,097,627 probably null Het
Dnase1l3 T C 14: 7,984,146 T89A probably benign Het
Dock4 C A 12: 40,733,310 Q748K probably benign Het
Elmo3 A G 8: 105,306,388 E68G possibly damaging Het
Fer1l4 C A 2: 156,044,734 E692* probably null Het
Fkbp9 T A 6: 56,849,718 M101K probably damaging Het
Gm4763 T A 7: 24,722,836 S163C probably damaging Het
Grin1 C A 2: 25,310,436 V225L probably benign Het
Gucy2d T C 7: 98,449,841 V288A possibly damaging Het
Heatr5b C A 17: 78,755,320 K1933N probably benign Het
Hsdl1 A T 8: 119,565,697 S260T probably benign Het
Hspg2 T C 4: 137,560,522 probably benign Het
Ift172 A T 5: 31,284,130 V220E probably benign Het
Igkv12-47 C T 6: 69,750,866 noncoding transcript Het
Ism1 C T 2: 139,731,975 R82* probably null Het
Lrch3 A G 16: 32,955,324 T187A probably damaging Het
Ltbr T A 6: 125,312,366 D160V probably damaging Het
Mark3 A T 12: 111,628,250 K353I probably benign Het
Mrm3 A T 11: 76,249,946 H260L probably damaging Het
Nckap1 T C 2: 80,525,560 Q627R probably benign Het
Neb T A 2: 52,278,952 Y1857F possibly damaging Het
Ntsr1 A G 2: 180,500,502 T29A probably benign Het
Ofcc1 C T 13: 40,072,752 G768D probably benign Het
Olfr181 T C 16: 58,925,960 M204V probably benign Het
Pld4 A T 12: 112,767,879 Q393L probably benign Het
Prss23 T C 7: 89,509,857 I335V probably benign Het
Prune2 A G 19: 17,123,346 I2071M probably damaging Het
Ptprz1 T A 6: 23,000,332 V807E probably damaging Het
Rnf20 G A 4: 49,655,936 A961T probably damaging Het
Slc25a24 A G 3: 109,149,549 Q126R possibly damaging Het
Slc35e1 A T 8: 72,483,852 Y382N probably damaging Het
Snrpn C T 7: 59,985,865 G129D probably damaging Het
Spag9 A T 11: 94,093,509 N386I possibly damaging Het
Ssna1 T C 2: 25,271,530 N102D possibly damaging Het
Tcrg-C2 T A 13: 19,305,176 T129S probably benign Het
Tex21 A T 12: 76,221,591 I139N probably benign Het
Trim21 T C 7: 102,563,277 T161A probably benign Het
Vmn2r82 T A 10: 79,377,869 H96Q probably benign Het
Other mutations in Pde8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Pde8b APN 13 95034367 missense probably damaging 1.00
IGL01517:Pde8b APN 13 95100887 critical splice donor site probably null
IGL01736:Pde8b APN 13 95030402 missense probably damaging 1.00
IGL01756:Pde8b APN 13 95046387 missense probably damaging 1.00
IGL01867:Pde8b APN 13 95100938 missense probably damaging 0.99
IGL01939:Pde8b APN 13 95095724 missense probably damaging 0.98
IGL02026:Pde8b APN 13 95034361 missense probably damaging 1.00
IGL02685:Pde8b APN 13 95026120 makesense probably null
IGL02830:Pde8b APN 13 95052901 missense probably benign 0.02
IGL02966:Pde8b APN 13 95095648 missense probably damaging 0.96
IGL03003:Pde8b APN 13 95041957 missense probably damaging 1.00
IGL03064:Pde8b APN 13 95046398 missense probably damaging 1.00
R0356:Pde8b UTSW 13 95046454 missense probably damaging 0.96
R0464:Pde8b UTSW 13 95104698 missense probably damaging 1.00
R0711:Pde8b UTSW 13 95107817 missense possibly damaging 0.87
R1436:Pde8b UTSW 13 95026170 missense probably benign 0.00
R1467:Pde8b UTSW 13 95034172 missense probably damaging 0.99
R1467:Pde8b UTSW 13 95034172 missense probably damaging 0.99
R1494:Pde8b UTSW 13 95047796 missense probably damaging 1.00
R1546:Pde8b UTSW 13 95046443 missense probably damaging 1.00
R1699:Pde8b UTSW 13 95032866 missense probably damaging 1.00
R1795:Pde8b UTSW 13 95042019 missense probably benign 0.10
R1879:Pde8b UTSW 13 95085215 missense possibly damaging 0.95
R2184:Pde8b UTSW 13 95026215 missense probably damaging 1.00
R2223:Pde8b UTSW 13 95043447 missense probably damaging 1.00
R2892:Pde8b UTSW 13 95034259 missense probably damaging 1.00
R3034:Pde8b UTSW 13 95222767 missense probably damaging 1.00
R4204:Pde8b UTSW 13 95222545 missense probably benign 0.22
R4206:Pde8b UTSW 13 95222545 missense probably benign 0.22
R4623:Pde8b UTSW 13 95041939 missense possibly damaging 0.69
R4711:Pde8b UTSW 13 95030450 missense probably benign 0.00
R5133:Pde8b UTSW 13 95086742 missense probably benign 0.05
R5134:Pde8b UTSW 13 95086742 missense probably benign 0.05
R5314:Pde8b UTSW 13 95086853 missense possibly damaging 0.89
R5342:Pde8b UTSW 13 95041990 missense probably damaging 0.99
R5376:Pde8b UTSW 13 95026146 missense probably benign 0.00
R5806:Pde8b UTSW 13 95042040 missense probably damaging 1.00
R5830:Pde8b UTSW 13 95041890 missense probably benign 0.01
R6021:Pde8b UTSW 13 95026162 missense possibly damaging 0.47
R6035:Pde8b UTSW 13 95027597 intron probably benign
R6035:Pde8b UTSW 13 95027597 intron probably benign
R6129:Pde8b UTSW 13 95041959 missense probably damaging 0.98
R6181:Pde8b UTSW 13 95086808 missense probably benign 0.36
R6313:Pde8b UTSW 13 95042000 nonsense probably null
R6849:Pde8b UTSW 13 95047799 missense possibly damaging 0.89
R6914:Pde8b UTSW 13 95086844 missense probably benign 0.06
R6999:Pde8b UTSW 13 95086834 missense possibly damaging 0.91
R7149:Pde8b UTSW 13 95086841 missense probably benign 0.03
R7275:Pde8b UTSW 13 95042934 missense probably damaging 1.00
R7483:Pde8b UTSW 13 95027743 missense probably damaging 1.00
R7553:Pde8b UTSW 13 95086750 missense probably benign 0.21
R7790:Pde8b UTSW 13 95034171 missense probably benign 0.00
R7802:Pde8b UTSW 13 95100938 missense probably damaging 0.99
R7852:Pde8b UTSW 13 95107697 missense probably damaging 1.00
R7872:Pde8b UTSW 13 95086839 missense possibly damaging 0.51
R7897:Pde8b UTSW 13 95107694 missense probably benign 0.01
R8144:Pde8b UTSW 13 95222770 missense probably damaging 0.99
R8792:Pde8b UTSW 13 95043026 missense probably benign
R8850:Pde8b UTSW 13 95090285 missense probably benign 0.01
R8905:Pde8b UTSW 13 95046485 missense probably damaging 1.00
Posted On2016-08-02