Incidental Mutation 'R0102:Pde4b'
ID 17177
Institutional Source Beutler Lab
Gene Symbol Pde4b
Ensembl Gene ENSMUSG00000028525
Gene Name phosphodiesterase 4B, cAMP specific
Synonyms Dpde4, dunce
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R0102 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 101944740-102464456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102447375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 9 (S9T)
Ref Sequence ENSEMBL: ENSMUSP00000095561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030251] [ENSMUST00000097949] [ENSMUST00000097950] [ENSMUST00000106901] [ENSMUST00000106904] [ENSMUST00000106908] [ENSMUST00000106911]
AlphaFold B1AWC9
Predicted Effect probably benign
Transcript: ENSMUST00000030251
SMART Domains Protein: ENSMUSP00000030251
Gene: ENSMUSG00000028525

DomainStartEndE-ValueType
HDc 151 326 2.35e-5 SMART
low complexity region 433 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097949
AA Change: S9T

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095561
Gene: ENSMUSG00000028525
AA Change: S9T

DomainStartEndE-ValueType
HDc 170 345 2.35e-5 SMART
low complexity region 452 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097950
SMART Domains Protein: ENSMUSP00000095562
Gene: ENSMUSG00000028525

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
HDc 231 406 2.35e-5 SMART
low complexity region 513 526 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106901
AA Change: S9T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102514
Gene: ENSMUSG00000028525
AA Change: S9T

DomainStartEndE-ValueType
HDc 170 345 2.35e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106904
SMART Domains Protein: ENSMUSP00000102517
Gene: ENSMUSG00000028525

DomainStartEndE-ValueType
HDc 326 501 2.35e-5 SMART
low complexity region 608 621 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106908
SMART Domains Protein: ENSMUSP00000102521
Gene: ENSMUSG00000028525

DomainStartEndE-ValueType
HDc 388 563 2.35e-5 SMART
low complexity region 670 683 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106911
SMART Domains Protein: ENSMUSP00000102524
Gene: ENSMUSG00000028525

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
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.2%
  • 10x: 73.9%
  • 20x: 53.9%
Validation Efficiency 97% (84/87)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Adcy4 A C 14: 56,008,990 (GRCm39) N812K probably benign Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bod1l G A 5: 41,974,612 (GRCm39) P2234L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lmbrd2 G A 15: 9,184,039 (GRCm39) R551K probably damaging Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Mat1a T A 14: 40,842,187 (GRCm39) probably benign Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mroh5 A T 15: 73,691,199 (GRCm39) D155E probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Ntrk2 T C 13: 58,956,607 (GRCm39) V22A probably benign Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or2t35 C T 14: 14,407,876 (GRCm38) S218F probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pitpnm3 C T 11: 71,947,072 (GRCm39) V776M probably damaging Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prorp A G 12: 55,429,082 (GRCm39) D535G probably benign Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Spata31h1 T A 10: 82,119,390 (GRCm39) K4540M probably damaging Het
Spata31h2 T A 5: 23,542,489 (GRCm39) noncoding transcript Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trgv4 T G 13: 19,369,370 (GRCm39) F38C possibly damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Vwa3b A C 1: 37,174,595 (GRCm39) E670A 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
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
R0704:Pde4b UTSW 4 102,344,589 (GRCm39) missense probably damaging 0.99
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
Posted On 2013-01-20