Incidental Mutation 'IGL01146:Pde4b'
ID50985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde4b
Ensembl Gene ENSMUSG00000028525
Gene Namephosphodiesterase 4B, cAMP specific
Synonymsdunce, Dpde4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL01146
Quality Score
Status
Chromosome4
Chromosomal Location102087543-102607259 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102255263 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 12 (S12T)
Ref Sequence ENSEMBL: ENSMUSP00000134690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106907] [ENSMUST00000106908] [ENSMUST00000106911] [ENSMUST00000173119] [ENSMUST00000174186]
Predicted Effect probably benign
Transcript: ENSMUST00000106907
AA Change: S15T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000106908
AA Change: S15T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102521
Gene: ENSMUSG00000028525
AA Change: S15T

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
Predicted Effect probably benign
Transcript: ENSMUST00000173119
SMART Domains Protein: ENSMUSP00000133413
Gene: ENSMUSG00000028525

DomainStartEndE-ValueType
low complexity region 23 33 N/A INTRINSIC
low complexity region 74 83 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174186
AA Change: S12T

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T C 6: 40,966,283 I54T probably damaging Het
4921501E09Rik A G 17: 33,065,383 L815S possibly damaging Het
4930402H24Rik C T 2: 130,770,671 probably null Het
Acss2 T C 2: 155,562,037 V701A possibly damaging Het
Adam6a A T 12: 113,544,220 Y71F probably damaging Het
Arhgef37 A T 18: 61,518,010 I148N possibly damaging Het
Bhlhe40 T C 6: 108,664,940 S282P possibly damaging Het
Bmp2 A T 2: 133,561,300 Q257L probably benign Het
C2cd4d A G 3: 94,364,463 probably benign Het
Calcr T A 6: 3,700,144 Y316F possibly damaging Het
Ccdc186 T C 19: 56,809,317 E274G probably damaging Het
Cdc34b G T 11: 94,742,594 D207Y probably benign Het
Chst5 C T 8: 111,890,682 C102Y probably damaging Het
Cnbd2 T A 2: 156,312,614 probably benign Het
Dnm1l T C 16: 16,314,325 D549G probably benign Het
Gm4847 T A 1: 166,634,952 D323V probably damaging Het
Gm9843 G A 16: 76,403,367 noncoding transcript Het
Gopc A G 10: 52,358,867 V120A probably benign Het
Kmt2c T G 5: 25,308,512 M3095L probably damaging Het
Man1a T C 10: 53,907,519 E629G possibly damaging Het
Phf2 A T 13: 48,819,607 L391Q unknown Het
Plekha7 G A 7: 116,157,473 probably benign Het
Pmpcb T A 5: 21,740,478 probably benign Het
Poc1a T C 9: 106,305,304 Y285H probably benign Het
Polr1e T C 4: 45,031,369 L387S probably damaging Het
Prr9 A T 3: 92,123,197 C45* probably null Het
Rnf157 T C 11: 116,350,086 H393R probably benign Het
Rps6ka4 A G 19: 6,831,128 F554L probably damaging Het
Sez6l A G 5: 112,428,409 S861P probably damaging Het
Sh3tc2 G T 18: 61,989,511 D448Y probably damaging Het
Smg6 T G 11: 74,930,428 Y508* probably null Het
Sult6b2 C T 6: 142,804,308 G28D probably benign Het
Traf2 C A 2: 25,524,919 C303F probably benign Het
Other mutations in Pde4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Pde4b APN 4 102506044 critical splice donor site probably null
IGL01377:Pde4b APN 4 102487402 missense probably damaging 1.00
IGL01549:Pde4b APN 4 102605068 missense probably damaging 0.97
IGL01739:Pde4b APN 4 102601635 missense probably damaging 0.97
IGL01791:Pde4b APN 4 102590930 splice site probably benign
IGL02211:Pde4b APN 4 102590822 splice site probably benign
IGL02578:Pde4b APN 4 102255297 missense possibly damaging 0.94
IGL02878:Pde4b APN 4 102601639 missense probably damaging 1.00
PIT4458001:Pde4b UTSW 4 102602678 missense probably damaging 1.00
PIT4618001:Pde4b UTSW 4 102602812 missense probably benign 0.09
R0102:Pde4b UTSW 4 102590178 missense probably benign 0.15
R0230:Pde4b UTSW 4 102597510 missense probably benign 0.01
R0530:Pde4b UTSW 4 102602651 missense probably damaging 0.96
R0704:Pde4b UTSW 4 102487392 missense probably damaging 0.99
R1115:Pde4b UTSW 4 102542155 intron probably benign
R1450:Pde4b UTSW 4 102601635 missense probably damaging 0.97
R1457:Pde4b UTSW 4 102605176 missense probably damaging 0.99
R1568:Pde4b UTSW 4 102597699 missense probably damaging 1.00
R1740:Pde4b UTSW 4 102487351 missense probably damaging 1.00
R1784:Pde4b UTSW 4 102605260 missense probably benign 0.02
R1960:Pde4b UTSW 4 102597460 missense probably damaging 0.99
R1961:Pde4b UTSW 4 102597460 missense probably damaging 0.99
R2033:Pde4b UTSW 4 102605295 missense probably benign 0.43
R2210:Pde4b UTSW 4 102597475 missense probably damaging 1.00
R2848:Pde4b UTSW 4 102601545 missense probably damaging 1.00
R2936:Pde4b UTSW 4 102601545 missense probably damaging 1.00
R3195:Pde4b UTSW 4 102599643 missense probably damaging 0.99
R3196:Pde4b UTSW 4 102599643 missense probably damaging 0.99
R3695:Pde4b UTSW 4 102601545 missense probably damaging 1.00
R3699:Pde4b UTSW 4 102601545 missense probably damaging 1.00
R4014:Pde4b UTSW 4 102555625 missense probably benign 0.00
R4627:Pde4b UTSW 4 102601605 missense probably damaging 1.00
R4852:Pde4b UTSW 4 102597770 missense probably damaging 1.00
R5055:Pde4b UTSW 4 102195114 intron probably benign
R5109:Pde4b UTSW 4 102601544 missense probably damaging 1.00
R5319:Pde4b UTSW 4 102421788 utr 3 prime probably benign
R5476:Pde4b UTSW 4 102602699 missense probably benign 0.00
R5576:Pde4b UTSW 4 102430162 missense probably damaging 0.98
R6019:Pde4b UTSW 4 102570769 missense possibly damaging 0.56
R6151:Pde4b UTSW 4 102601551 missense probably damaging 1.00
R6540:Pde4b UTSW 4 102601876 missense probably damaging 1.00
R6573:Pde4b UTSW 4 102430162 missense probably damaging 0.98
R6662:Pde4b UTSW 4 102601898 missense possibly damaging 0.82
R6751:Pde4b UTSW 4 102602671 missense probably damaging 0.98
R7066:Pde4b UTSW 4 102602806 missense probably benign 0.03
R7092:Pde4b UTSW 4 102601851 missense probably damaging 1.00
R7461:Pde4b UTSW 4 102255306 missense probably damaging 1.00
R7613:Pde4b UTSW 4 102255306 missense probably damaging 1.00
R8068:Pde4b UTSW 4 102596015 missense probably damaging 1.00
Posted On2013-06-21