Incidental Mutation 'R2848:Pde4b'
ID 251806
Institutional Source Beutler Lab
Gene Symbol Pde4b
Ensembl Gene ENSMUSG00000028525
Gene Name phosphodiesterase 4B, cAMP specific
Synonyms Dpde4, dunce
MMRRC Submission 040441-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # R2848 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 101944740-102464456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102458742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 466 (A466V)
Ref Sequence ENSEMBL: ENSMUSP00000102524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030251] [ENSMUST00000097949] [ENSMUST00000097950] [ENSMUST00000106901] [ENSMUST00000106904] [ENSMUST00000106908] [ENSMUST00000106911]
AlphaFold B1AWC9
Predicted Effect probably damaging
Transcript: ENSMUST00000030251
AA Change: A214V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030251
Gene: ENSMUSG00000028525
AA Change: A214V

DomainStartEndE-ValueType
HDc 151 326 2.35e-5 SMART
low complexity region 433 446 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097949
AA Change: A233V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095561
Gene: ENSMUSG00000028525
AA Change: A233V

DomainStartEndE-ValueType
HDc 170 345 2.35e-5 SMART
low complexity region 452 465 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097950
AA Change: A294V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095562
Gene: ENSMUSG00000028525
AA Change: A294V

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 damaging
Transcript: ENSMUST00000106901
AA Change: A233V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102514
Gene: ENSMUSG00000028525
AA Change: A233V

DomainStartEndE-ValueType
HDc 170 345 2.35e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106904
AA Change: A389V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102517
Gene: ENSMUSG00000028525
AA Change: A389V

DomainStartEndE-ValueType
HDc 326 501 2.35e-5 SMART
low complexity region 608 621 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106908
AA Change: A451V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102521
Gene: ENSMUSG00000028525
AA Change: A451V

DomainStartEndE-ValueType
HDc 388 563 2.35e-5 SMART
low complexity region 670 683 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106911
AA Change: A466V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102524
Gene: ENSMUSG00000028525
AA Change: A466V

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 0.9335 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik A T 7: 126,429,894 (GRCm39) F101Y possibly damaging Het
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Adamts14 T A 10: 61,054,214 (GRCm39) Q606L probably damaging Het
Adgrf5 C A 17: 43,733,531 (GRCm39) N118K possibly damaging Het
Baz2b A T 2: 59,755,010 (GRCm39) Y1073N possibly damaging Het
Celf2 T C 2: 6,608,936 (GRCm39) R282G probably damaging Het
Cntnap5c A T 17: 58,183,387 (GRCm39) D31V probably damaging Het
Cobl A G 11: 12,328,342 (GRCm39) L81P probably damaging Het
Cpsf1 A T 15: 76,487,051 (GRCm39) L209Q probably damaging Het
Crocc G A 4: 140,746,067 (GRCm39) A1684V probably damaging Het
Cyp4f37 T A 17: 32,848,099 (GRCm39) C206S probably damaging Het
Dnah3 A G 7: 119,567,161 (GRCm39) V2355A probably benign Het
Dnah6 T C 6: 73,106,314 (GRCm39) K1756E probably benign Het
Fis1 T C 5: 136,991,971 (GRCm39) I55T possibly damaging Het
Gm2381 G A 7: 42,469,831 (GRCm39) P98S probably damaging Het
Gpr37 C T 6: 25,666,945 (GRCm39) probably benign Het
Grin2a A G 16: 9,579,829 (GRCm39) F145L possibly damaging Het
Htr4 T C 18: 62,561,197 (GRCm39) S153P probably damaging Het
Igkv9-120 T A 6: 68,027,128 (GRCm39) probably benign Het
Il12rb1 G A 8: 71,268,446 (GRCm39) W396* probably null Het
Itga8 A T 2: 12,165,215 (GRCm39) V798D probably damaging Het
Lfng T A 5: 140,597,622 (GRCm39) D149E probably damaging Het
Magi2 A AG 5: 20,807,459 (GRCm39) probably null Het
Mgam C A 6: 40,629,649 (GRCm39) A86E possibly damaging Het
Myh4 A G 11: 67,139,459 (GRCm39) N592S probably benign Het
Naa16 A G 14: 79,573,323 (GRCm39) C816R probably damaging Het
Nek8 A G 11: 78,058,967 (GRCm39) S513P probably damaging Het
Ociad1 A G 5: 73,451,694 (GRCm39) probably null Het
Or1j4 A G 2: 36,740,811 (GRCm39) Y251C probably damaging Het
Or2t35 C T 14: 14,407,398 (GRCm38) P57S probably damaging Het
Or4g7 T C 2: 111,309,699 (GRCm39) M190T probably benign Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Pcdh7 G A 5: 57,877,618 (GRCm39) G391E probably damaging Het
Pcdhga10 T A 18: 37,881,253 (GRCm39) V338E possibly damaging Het
Peg10 C T 6: 4,756,912 (GRCm39) probably benign Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Ppargc1a A G 5: 51,631,151 (GRCm39) F493L probably benign Het
Ptpra C A 2: 130,386,919 (GRCm39) H603Q probably benign Het
Rnf10 T C 5: 115,387,171 (GRCm39) D439G probably benign Het
Shfl A T 9: 20,784,868 (GRCm39) H225L probably damaging Het
Syt3 G A 7: 44,042,866 (GRCm39) V383I probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Try5 C T 6: 41,290,410 (GRCm39) V25I probably benign Het
Ttn G T 2: 76,749,551 (GRCm39) Q3833K probably benign Het
Usp53 G A 3: 122,728,140 (GRCm39) P814L probably benign Het
Utp25 A T 1: 192,810,759 (GRCm39) N81K probably benign Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn2r114 A T 17: 23,509,948 (GRCm39) M844K probably benign Het
Vwa8 G T 14: 79,184,582 (GRCm39) R360L probably benign Het
Xlr4b A T X: 72,258,938 (GRCm39) Q25L probably null Het
Zfp532 T A 18: 65,789,697 (GRCm39) H1045Q possibly damaging Het
Zfp985 G A 4: 147,667,468 (GRCm39) W112* probably null 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
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
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'- ACAATTGTCAGAGGTTGGGG -3'
(R):5'- TGCCAACACCTTGAGCAAAG -3'

Sequencing Primer
(F):5'- CATTTGATAACGCATCTGTGTTTTC -3'
(R):5'- CCTTGAGCAAAGACAGAATTAAAAC -3'
Posted On 2014-12-04