Incidental Mutation 'R0704:Pde4b'
ID 63083
Institutional Source Beutler Lab
Gene Symbol Pde4b
Ensembl Gene ENSMUSG00000028525
Gene Name phosphodiesterase 4B, cAMP specific
Synonyms Dpde4, dunce
MMRRC Submission 038887-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R0704 (G1)
Quality Score 102
Status Not validated
Chromosome 4
Chromosomal Location 101944740-102464456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102344589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 155 (L155F)
Ref Sequence ENSEMBL: ENSMUSP00000133413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106904] [ENSMUST00000106907] [ENSMUST00000106908] [ENSMUST00000106911] [ENSMUST00000172616] [ENSMUST00000173119] [ENSMUST00000174186]
AlphaFold B1AWC9
Predicted Effect possibly damaging
Transcript: ENSMUST00000106904
AA Change: L78F

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102517
Gene: ENSMUSG00000028525
AA Change: L78F

DomainStartEndE-ValueType
HDc 326 501 2.35e-5 SMART
low complexity region 608 621 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106907
AA Change: L140F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000106908
AA Change: L140F

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102521
Gene: ENSMUSG00000028525
AA Change: L140F

DomainStartEndE-ValueType
HDc 388 563 2.35e-5 SMART
low complexity region 670 683 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106911
AA Change: L155F

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102524
Gene: ENSMUSG00000028525
AA Change: L155F

DomainStartEndE-ValueType
low complexity region 23 33 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
HDc 403 578 2.35e-5 SMART
low complexity region 685 698 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133632
Predicted Effect probably damaging
Transcript: ENSMUST00000172616
AA Change: L99F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000173119
AA Change: L155F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133413
Gene: ENSMUSG00000028525
AA Change: L155F

DomainStartEndE-ValueType
low complexity region 23 33 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174186
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene produce significantly less TNF-alpha in response to lipopolysaccharide stimulation. One mutation resulted in brain and spinal cord vacuoles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,643,381 (GRCm39) L441Q probably damaging Het
Abca15 A T 7: 119,953,746 (GRCm39) E550V probably damaging Het
Adcy4 A G 14: 56,010,213 (GRCm39) F690L probably benign Het
Aspg T A 12: 112,080,906 (GRCm39) N132K probably damaging Het
B430305J03Rik A T 3: 61,271,414 (GRCm39) Y110* probably null Het
Cep135 A G 5: 76,778,796 (GRCm39) E741G possibly damaging Het
Cplane1 T C 15: 8,239,567 (GRCm39) V1256A possibly damaging Het
Dkkl1 T C 7: 44,859,539 (GRCm39) K128E probably damaging Het
Duox2 A T 2: 122,115,249 (GRCm39) M1101K probably benign Het
Gpr89 T C 3: 96,787,484 (GRCm39) probably null Het
Hormad1 T C 3: 95,473,997 (GRCm39) probably null Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Itga2 A G 13: 114,998,911 (GRCm39) F658S possibly damaging Het
Kcnc4 T C 3: 107,355,279 (GRCm39) I390V possibly damaging Het
Krt84 G T 15: 101,441,112 (GRCm39) H27N probably benign Het
Lama5 A G 2: 179,821,277 (GRCm39) I3095T possibly damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Ms4a1 T C 19: 11,230,596 (GRCm39) T202A probably benign Het
Nrbp2 A G 15: 75,960,801 (GRCm39) S294P probably damaging Het
Or6b13 A G 7: 139,782,548 (GRCm39) V45A probably benign Het
Or6c215 A G 10: 129,638,172 (GRCm39) V74A probably benign Het
Pds5a A G 5: 65,777,928 (GRCm39) S6P probably damaging Het
Ralgapa2 A T 2: 146,293,704 (GRCm39) L150Q probably damaging Het
Reln C T 5: 22,101,809 (GRCm39) V3374I probably damaging Het
Rgs12 T G 5: 35,180,466 (GRCm39) S253A possibly damaging Het
Sap130 C A 18: 31,786,607 (GRCm39) T266K probably damaging Het
Sis T C 3: 72,857,155 (GRCm39) I379V possibly damaging Het
Slc39a10 T A 1: 46,875,021 (GRCm39) I94F possibly damaging Het
Sptb A T 12: 76,630,368 (GRCm39) N2263K probably damaging Het
Srsf12 A G 4: 33,231,069 (GRCm39) R188G probably damaging Het
Ssxb9 T G X: 8,238,022 (GRCm39) S130R probably damaging Het
Tg A G 15: 66,629,729 (GRCm39) D470G probably benign Het
Urb1 T C 16: 90,573,095 (GRCm39) Q979R probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Zfp78 T A 7: 6,382,251 (GRCm39) C402S probably damaging Het
Other mutations in Pde4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Pde4b APN 4 102,363,241 (GRCm39) critical splice donor site probably null
IGL01146:Pde4b APN 4 102,112,460 (GRCm39) missense possibly damaging 0.80
IGL01377:Pde4b APN 4 102,344,599 (GRCm39) missense probably damaging 1.00
IGL01549:Pde4b APN 4 102,462,265 (GRCm39) missense probably damaging 0.97
IGL01739:Pde4b APN 4 102,458,832 (GRCm39) missense probably damaging 0.97
IGL01791:Pde4b APN 4 102,448,127 (GRCm39) splice site probably benign
IGL02211:Pde4b APN 4 102,448,019 (GRCm39) splice site probably benign
IGL02578:Pde4b APN 4 102,112,494 (GRCm39) missense possibly damaging 0.94
IGL02878:Pde4b APN 4 102,458,836 (GRCm39) missense probably damaging 1.00
PIT4458001:Pde4b UTSW 4 102,459,875 (GRCm39) missense probably damaging 1.00
PIT4618001:Pde4b UTSW 4 102,460,009 (GRCm39) missense probably benign 0.09
R0102:Pde4b UTSW 4 102,447,375 (GRCm39) missense probably benign 0.15
R0230:Pde4b UTSW 4 102,454,707 (GRCm39) missense probably benign 0.01
R0530:Pde4b UTSW 4 102,459,848 (GRCm39) missense probably damaging 0.96
R1115:Pde4b UTSW 4 102,399,352 (GRCm39) intron probably benign
R1450:Pde4b UTSW 4 102,458,832 (GRCm39) missense probably damaging 0.97
R1457:Pde4b UTSW 4 102,462,373 (GRCm39) missense probably damaging 0.99
R1568:Pde4b UTSW 4 102,454,896 (GRCm39) missense probably damaging 1.00
R1740:Pde4b UTSW 4 102,344,548 (GRCm39) missense probably damaging 1.00
R1784:Pde4b UTSW 4 102,462,457 (GRCm39) missense probably benign 0.02
R1960:Pde4b UTSW 4 102,454,657 (GRCm39) missense probably damaging 0.99
R1961:Pde4b UTSW 4 102,454,657 (GRCm39) missense probably damaging 0.99
R2033:Pde4b UTSW 4 102,462,492 (GRCm39) missense probably benign 0.43
R2210:Pde4b UTSW 4 102,454,672 (GRCm39) missense probably damaging 1.00
R2848:Pde4b UTSW 4 102,458,742 (GRCm39) missense probably damaging 1.00
R2936:Pde4b UTSW 4 102,458,742 (GRCm39) missense probably damaging 1.00
R3195:Pde4b UTSW 4 102,456,840 (GRCm39) missense probably damaging 0.99
R3196:Pde4b UTSW 4 102,456,840 (GRCm39) missense probably damaging 0.99
R3695:Pde4b UTSW 4 102,458,742 (GRCm39) missense probably damaging 1.00
R3699:Pde4b UTSW 4 102,458,742 (GRCm39) missense probably damaging 1.00
R4014:Pde4b UTSW 4 102,412,822 (GRCm39) missense probably benign 0.00
R4627:Pde4b UTSW 4 102,458,802 (GRCm39) missense probably damaging 1.00
R4852:Pde4b UTSW 4 102,454,967 (GRCm39) missense probably damaging 1.00
R5055:Pde4b UTSW 4 102,052,311 (GRCm39) intron probably benign
R5109:Pde4b UTSW 4 102,458,741 (GRCm39) missense probably damaging 1.00
R5319:Pde4b UTSW 4 102,278,985 (GRCm39) utr 3 prime probably benign
R5476:Pde4b UTSW 4 102,459,896 (GRCm39) missense probably benign 0.00
R5576:Pde4b UTSW 4 102,287,359 (GRCm39) missense probably damaging 0.98
R6019:Pde4b UTSW 4 102,427,966 (GRCm39) missense possibly damaging 0.56
R6151:Pde4b UTSW 4 102,458,748 (GRCm39) missense probably damaging 1.00
R6540:Pde4b UTSW 4 102,459,073 (GRCm39) missense probably damaging 1.00
R6573:Pde4b UTSW 4 102,287,359 (GRCm39) missense probably damaging 0.98
R6662:Pde4b UTSW 4 102,459,095 (GRCm39) missense possibly damaging 0.82
R6751:Pde4b UTSW 4 102,459,868 (GRCm39) missense probably damaging 0.98
R7066:Pde4b UTSW 4 102,460,003 (GRCm39) missense probably benign 0.03
R7092:Pde4b UTSW 4 102,459,048 (GRCm39) missense probably damaging 1.00
R7461:Pde4b UTSW 4 102,112,503 (GRCm39) missense probably damaging 1.00
R7613:Pde4b UTSW 4 102,112,503 (GRCm39) missense probably damaging 1.00
R8068:Pde4b UTSW 4 102,453,212 (GRCm39) missense probably damaging 1.00
R8296:Pde4b UTSW 4 102,459,983 (GRCm39) missense possibly damaging 0.76
R8732:Pde4b UTSW 4 102,412,822 (GRCm39) missense probably null 0.00
R9070:Pde4b UTSW 4 102,458,994 (GRCm39) missense probably damaging 1.00
R9111:Pde4b UTSW 4 102,454,657 (GRCm39) missense probably damaging 0.99
R9114:Pde4b UTSW 4 102,459,826 (GRCm39) missense probably damaging 1.00
R9295:Pde4b UTSW 4 102,112,478 (GRCm39) missense probably damaging 0.99
R9384:Pde4b UTSW 4 102,112,448 (GRCm39) missense probably benign
R9516:Pde4b UTSW 4 102,462,183 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTTGATGTGGAAAATGGCCCTTC -3'
(R):5'- AACACTGCGCTTGCCTTGATTTG -3'

Sequencing Primer
(F):5'- TGGAAAATGGCCCTTCTCCAG -3'
(R):5'- GGAACCCTGGTCTATATTCTGCAAG -3'
Posted On 2013-07-30