Incidental Mutation 'R6181:Pde8b'
ID 488106
Institutional Source Beutler Lab
Gene Symbol Pde8b
Ensembl Gene ENSMUSG00000021684
Gene Name phosphodiesterase 8B
Synonyms B230331L10Rik, C030047E14Rik
MMRRC Submission 044323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R6181 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 95160962-95386844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95223316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 313 (E313K)
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: E293K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: E293K

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: E208K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: E208K

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: E313K

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: E313K

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: E208K

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: E208K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,392,313 (GRCm39) H42R possibly damaging Het
Ankrd26 T A 6: 118,525,838 (GRCm39) H369L probably benign Het
Ano7 T C 1: 93,323,081 (GRCm39) S474P probably damaging Het
Aox3 T C 1: 58,198,105 (GRCm39) V639A probably benign Het
Arhgef2 T A 3: 88,542,927 (GRCm39) V358E probably damaging Het
Brpf3 A G 17: 29,029,555 (GRCm39) Y505C probably damaging Het
Casd1 A G 6: 4,619,331 (GRCm39) T120A probably damaging Het
Ccdc121 A G 5: 31,645,399 (GRCm39) E384G probably damaging Het
Cd200l1 A G 16: 45,238,260 (GRCm39) S185P probably benign Het
Clasp1 T G 1: 118,347,547 (GRCm39) S32A probably benign Het
Clca3a2 A T 3: 144,796,469 (GRCm39) L246* probably null Het
Clcn7 A G 17: 25,370,702 (GRCm39) I353V possibly damaging Het
Cluap1 T A 16: 3,751,608 (GRCm39) D322E probably benign Het
Cmtm4 A C 8: 105,082,997 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,742 (GRCm39) P723S probably damaging Het
Col6a3 T A 1: 90,744,096 (GRCm39) T84S possibly damaging Het
Corin A G 5: 72,529,439 (GRCm39) probably null Het
Cubn G A 2: 13,354,687 (GRCm39) T1903I probably benign Het
Cyp27b1 A C 10: 126,886,279 (GRCm39) D320A probably damaging Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dennd2a T C 6: 39,462,554 (GRCm39) K652R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,760,251 (GRCm39) M1638K probably damaging Het
Efcab3 T C 11: 104,722,159 (GRCm39) S1924P probably benign Het
Eya1 T C 1: 14,373,096 (GRCm39) S8G probably damaging Het
Fam193a T A 5: 34,600,884 (GRCm39) probably null Het
Fbxw11 T A 11: 32,692,575 (GRCm39) N515K probably benign Het
Gm6408 T C 5: 146,420,582 (GRCm39) V154A possibly damaging Het
Guf1 A G 5: 69,719,059 (GRCm39) Y235C probably damaging Het
Hnrnpul2 C T 19: 8,800,596 (GRCm39) S224L possibly damaging Het
Igkv8-19 T A 6: 70,317,968 (GRCm39) D86V probably damaging Het
Iqcf1 A T 9: 106,379,174 (GRCm39) D61V probably damaging Het
Lrp5 T C 19: 3,678,427 (GRCm39) D476G probably damaging Het
Luzp1 A G 4: 136,270,578 (GRCm39) T934A probably benign Het
Mboat7 A T 7: 3,686,884 (GRCm39) Y319N probably benign Het
Mdn1 A G 4: 32,715,953 (GRCm39) E2045G probably damaging Het
Mfsd14b T C 13: 65,260,398 (GRCm39) R12G probably benign Het
Micall2 T A 5: 139,702,506 (GRCm39) T246S probably benign Het
Npepps A G 11: 97,132,830 (GRCm39) V299A probably damaging Het
Or2y11 T A 11: 49,443,120 (GRCm39) V182D probably damaging Het
P2ry13 A G 3: 59,117,328 (GRCm39) V150A probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Pgap1 C T 1: 54,551,936 (GRCm39) G499R probably benign Het
Ppp1r15b T A 1: 133,060,261 (GRCm39) C259* probably null Het
Pramel21 T A 4: 143,342,828 (GRCm39) probably null Het
Ptgs1 A G 2: 36,141,131 (GRCm39) E526G probably damaging Het
Ptpn21 A G 12: 98,666,258 (GRCm39) L271P probably damaging Het
Rbm47 T C 5: 66,183,833 (GRCm39) T257A possibly damaging Het
Rfc3 C T 5: 151,570,985 (GRCm39) D104N probably damaging Het
Rhobtb3 A G 13: 76,058,808 (GRCm39) I330T probably benign Het
Rnf207 T C 4: 152,393,305 (GRCm39) T570A probably benign Het
Rusf1 A G 7: 127,896,632 (GRCm39) probably null Het
Sbpl T C 17: 24,172,466 (GRCm39) H151R probably damaging Het
Sstr3 T C 15: 78,423,661 (GRCm39) D362G probably benign Het
St7 T C 6: 17,694,363 (GRCm39) probably null Het
Tasor T A 14: 27,194,235 (GRCm39) M1145K probably benign Het
Tdrd6 A G 17: 43,939,788 (GRCm39) V420A probably damaging Het
Tet2 C A 3: 133,193,520 (GRCm39) E305* probably null Het
Tmem209 A T 6: 30,505,970 (GRCm39) V68E probably damaging Het
Tmod4 A T 3: 95,035,118 (GRCm39) I208F probably damaging Het
Tpo G A 12: 30,181,884 (GRCm39) L4F probably benign Het
Urb1 T C 16: 90,575,982 (GRCm39) H858R probably benign Het
Utrn A G 10: 12,615,200 (GRCm39) W324R probably damaging Het
V1rd19 T A 7: 23,702,640 (GRCm39) F35L possibly damaging Het
Vmn1r170 C A 7: 23,305,692 (GRCm39) N31K probably damaging Het
Vmn1r192 T A 13: 22,371,452 (GRCm39) Y256F probably damaging Het
Vmn2r124 T C 17: 18,294,019 (GRCm39) I702T possibly damaging Het
Vmn2r96 G A 17: 18,804,126 (GRCm39) A459T probably benign Het
Vwf G T 6: 125,543,109 (GRCm39) A132S probably damaging Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp608 A G 18: 55,028,700 (GRCm39) S1238P possibly damaging Het
Zfp804a G T 2: 82,087,486 (GRCm39) M438I probably damaging Het
Zgrf1 G A 3: 127,381,590 (GRCm39) G246S probably damaging Het
Zwint T C 10: 72,492,431 (GRCm39) V115A 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
R6035:Pde8b UTSW 13 95,164,105 (GRCm39) intron probably benign
R6129:Pde8b UTSW 13 95,178,467 (GRCm39) missense probably damaging 0.98
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'- CGTTCGTTCTTTCACTGAATTAGG -3'
(R):5'- ACTCCTGCCAGATGAGGAAG -3'

Sequencing Primer
(F):5'- GGATGTTACTAGCGAGTTCAATC -3'
(R):5'- AGGAGGAGACCGCAGCG -3'
Posted On 2017-10-10