Incidental Mutation 'R6722:Pde4a'
ID 529638
Institutional Source Beutler Lab
Gene Symbol Pde4a
Ensembl Gene ENSMUSG00000032177
Gene Name phosphodiesterase 4A, cAMP specific
Synonyms D9Ertd60e, dunce, Dpde2
MMRRC Submission 044840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R6722 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21077010-21124544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21122521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 806 (A806T)
Ref Sequence ENSEMBL: ENSMUSP00000037025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003395] [ENSMUST00000039413] [ENSMUST00000115458]
AlphaFold O89084
Predicted Effect probably damaging
Transcript: ENSMUST00000003395
AA Change: A572T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177
AA Change: A572T

DomainStartEndE-ValueType
low complexity region 62 87 N/A INTRINSIC
HDc 182 357 7.12e-5 SMART
low complexity region 462 475 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000039413
AA Change: A806T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: A806T

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
low complexity region 92 102 N/A INTRINSIC
low complexity region 296 321 N/A INTRINSIC
HDc 416 591 7.12e-5 SMART
low complexity region 696 709 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115458
AA Change: A749T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: A749T

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
low complexity region 239 264 N/A INTRINSIC
HDc 359 534 7.12e-5 SMART
low complexity region 639 652 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131769
Meta Mutation Damage Score 0.1083 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygous null mice have a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,468,228 (GRCm39) D131A probably damaging Het
Ank3 T C 10: 69,826,074 (GRCm39) probably benign Het
Atp1a4 T C 1: 172,085,617 (GRCm39) probably benign Het
Bmal2 T A 6: 146,720,398 (GRCm39) D187E probably damaging Het
Castor2 T C 5: 134,164,458 (GRCm39) S140P probably benign Het
Ccdc162 T C 10: 41,520,637 (GRCm39) N673S probably benign Het
Cd84 G A 1: 171,700,344 (GRCm39) V154M probably damaging Het
Celsr1 C A 15: 85,790,115 (GRCm39) probably null Het
Cfap57 A C 4: 118,441,914 (GRCm39) L718R probably damaging Het
Cntnap5b G A 1: 100,406,211 (GRCm39) V803M probably damaging Het
Col6a2 C T 10: 76,450,392 (GRCm39) V180I probably damaging Het
Coq4 A T 2: 29,678,297 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,012,983 (GRCm39) T389A probably benign Het
Dennd1c T C 17: 57,373,802 (GRCm39) D587G probably benign Het
Dnaja4 A G 9: 54,607,038 (GRCm39) D9G probably damaging Het
Hes2 T G 4: 152,244,834 (GRCm39) L101R probably damaging Het
Icam2 A G 11: 106,273,307 (GRCm39) S2P probably damaging Het
Krt31 A G 11: 99,939,254 (GRCm39) L221P probably damaging Het
Lipm A T 19: 34,098,665 (GRCm39) N380Y probably benign Het
Lrp2bp G A 8: 46,473,600 (GRCm39) probably null Het
Mbd2 T A 18: 70,713,819 (GRCm39) M216K probably damaging Het
Mrps33 T C 6: 39,782,599 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,462,060 (GRCm39) D1459G probably damaging Het
Ncapd3 T C 9: 26,998,852 (GRCm39) S1281P probably benign Het
Nt5c1b T A 12: 10,422,874 (GRCm39) Y56N possibly damaging Het
Nthl1 A G 17: 24,853,008 (GRCm39) K71E probably benign Het
Or4f62 T A 2: 111,987,227 (GRCm39) N310K probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pde4d C A 13: 109,769,432 (GRCm39) S40* probably null Het
Pde4dip G A 3: 97,625,555 (GRCm39) R1348* probably null Het
Pdx1 C T 5: 147,207,310 (GRCm39) P88S probably damaging Het
Pnisr T A 4: 21,859,165 (GRCm39) V120D probably damaging Het
Prss51 G T 14: 64,332,508 (GRCm39) C65F probably damaging Het
Pus10 G A 11: 23,652,975 (GRCm39) E195K possibly damaging Het
Pzp T A 6: 128,464,917 (GRCm39) Q1319L probably damaging Het
Rbpms G T 8: 34,324,421 (GRCm39) T101K probably damaging Het
Rundc3a A G 11: 102,290,775 (GRCm39) N281S possibly damaging Het
Scml4 C T 10: 42,736,728 (GRCm39) probably benign Het
Sez6 T C 11: 77,844,528 (GRCm39) V117A probably damaging Het
Sgsm2 A C 11: 74,756,250 (GRCm39) C366W probably damaging Het
Slc12a4 T C 8: 106,670,882 (GRCm39) probably null Het
Smg5 C T 3: 88,260,332 (GRCm39) R641C probably damaging Het
Stxbp3 A G 3: 108,723,762 (GRCm39) Y150H probably benign Het
Thoc2l T A 5: 104,668,145 (GRCm39) M889K probably damaging Het
Tkt T C 14: 30,291,041 (GRCm39) F351S probably damaging Het
Tln1 A G 4: 43,547,618 (GRCm39) L781P probably damaging Het
Triobp G A 15: 78,885,765 (GRCm39) E1823K probably damaging Het
Ttll4 T C 1: 74,720,948 (GRCm39) V538A possibly damaging Het
Uba52rt A G 4: 3,973,386 (GRCm39) Y59H probably benign Het
Vmn1r61 T A 7: 5,613,687 (GRCm39) N209I possibly damaging Het
Wdr75 T A 1: 45,844,512 (GRCm39) probably null Het
Zfp985 T C 4: 147,667,528 (GRCm39) V132A probably benign Het
Zswim3 T A 2: 164,662,544 (GRCm39) probably null Het
Other mutations in Pde4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Pde4a APN 9 21,122,357 (GRCm39) missense probably benign 0.01
IGL01330:Pde4a APN 9 21,103,734 (GRCm39) splice site probably benign
IGL01403:Pde4a APN 9 21,116,412 (GRCm39) missense probably damaging 1.00
IGL01610:Pde4a APN 9 21,122,646 (GRCm39) utr 3 prime probably benign
IGL02010:Pde4a APN 9 21,114,850 (GRCm39) critical splice donor site probably null
IGL02296:Pde4a APN 9 21,103,865 (GRCm39) missense possibly damaging 0.94
IGL02637:Pde4a APN 9 21,112,628 (GRCm39) missense probably damaging 0.97
PIT4696001:Pde4a UTSW 9 21,122,297 (GRCm39) missense probably benign
R0032:Pde4a UTSW 9 21,112,728 (GRCm39) splice site probably benign
R0032:Pde4a UTSW 9 21,112,728 (GRCm39) splice site probably benign
R0257:Pde4a UTSW 9 21,103,717 (GRCm39) missense probably damaging 1.00
R0504:Pde4a UTSW 9 21,115,699 (GRCm39) missense probably damaging 1.00
R1437:Pde4a UTSW 9 21,103,888 (GRCm39) critical splice donor site probably null
R1524:Pde4a UTSW 9 21,112,543 (GRCm39) missense probably damaging 0.98
R1750:Pde4a UTSW 9 21,114,528 (GRCm39) missense probably damaging 1.00
R2239:Pde4a UTSW 9 21,122,564 (GRCm39) missense probably damaging 1.00
R2905:Pde4a UTSW 9 21,112,645 (GRCm39) missense probably benign 0.01
R2991:Pde4a UTSW 9 21,114,539 (GRCm39) missense probably damaging 0.96
R3972:Pde4a UTSW 9 21,117,513 (GRCm39) missense probably damaging 1.00
R4826:Pde4a UTSW 9 21,103,676 (GRCm39) splice site probably null
R4922:Pde4a UTSW 9 21,122,009 (GRCm39) missense probably damaging 1.00
R5195:Pde4a UTSW 9 21,115,629 (GRCm39) missense possibly damaging 0.70
R5208:Pde4a UTSW 9 21,114,854 (GRCm39) splice site probably null
R5552:Pde4a UTSW 9 21,112,682 (GRCm39) missense probably damaging 1.00
R5713:Pde4a UTSW 9 21,114,813 (GRCm39) missense probably damaging 1.00
R6792:Pde4a UTSW 9 21,103,886 (GRCm39) missense probably benign 0.03
R6861:Pde4a UTSW 9 21,116,597 (GRCm39) missense probably damaging 1.00
R6901:Pde4a UTSW 9 21,116,266 (GRCm39) missense probably benign 0.37
R7300:Pde4a UTSW 9 21,117,618 (GRCm39) missense probably damaging 1.00
R7690:Pde4a UTSW 9 21,077,300 (GRCm39) missense probably damaging 1.00
R7798:Pde4a UTSW 9 21,109,959 (GRCm39) missense possibly damaging 0.63
R8073:Pde4a UTSW 9 21,122,065 (GRCm39) missense probably damaging 1.00
R8133:Pde4a UTSW 9 21,102,673 (GRCm39) missense possibly damaging 0.87
R8167:Pde4a UTSW 9 21,117,469 (GRCm39) missense possibly damaging 0.95
R8297:Pde4a UTSW 9 21,077,404 (GRCm39) missense possibly damaging 0.94
R8348:Pde4a UTSW 9 21,117,534 (GRCm39) missense probably benign 0.35
R8448:Pde4a UTSW 9 21,117,534 (GRCm39) missense probably benign 0.35
R8853:Pde4a UTSW 9 21,106,119 (GRCm39) missense possibly damaging 0.81
R8953:Pde4a UTSW 9 21,122,030 (GRCm39) missense probably damaging 1.00
R9167:Pde4a UTSW 9 21,102,798 (GRCm39) missense probably benign 0.20
R9492:Pde4a UTSW 9 21,106,096 (GRCm39) missense probably damaging 1.00
R9686:Pde4a UTSW 9 21,117,562 (GRCm39) missense probably benign 0.09
X0027:Pde4a UTSW 9 21,109,950 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTCAAAGGTCAAAGGCC -3'
(R):5'- TTTCTCAGGAGGGCCAGGAG -3'

Sequencing Primer
(F):5'- CAGAGCCCTGCTGTTGTG -3'
(R):5'- AGGGCCAGGAGTCGTTG -3'
Posted On 2018-08-01