Incidental Mutation 'IGL02296:Pde4a'
ID290191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde4a
Ensembl Gene ENSMUSG00000032177
Gene Namephosphodiesterase 4A, cAMP specific
SynonymsDpde2, dunce, D9Ertd60e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.241) question?
Stock #IGL02296
Quality Score
Status
Chromosome9
Chromosomal Location21165714-21213248 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21192569 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 138 (N138I)
Ref Sequence ENSEMBL: ENSMUSP00000111118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003395] [ENSMUST00000039413] [ENSMUST00000115458]
Predicted Effect probably benign
Transcript: ENSMUST00000003395
SMART Domains Protein: ENSMUSP00000003395
Gene: ENSMUSG00000032177

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 possibly damaging
Transcript: ENSMUST00000039413
AA Change: N195I

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177
AA Change: N195I

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 possibly damaging
Transcript: ENSMUST00000115458
AA Change: N138I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177
AA Change: N138I

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: ENSMUST00000127821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140440
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik T A 1: 63,769,185 R7S unknown Het
Acss3 A T 10: 107,053,451 Y169* probably null Het
Anln T C 9: 22,372,187 K450R possibly damaging Het
Armc10 A T 5: 21,660,633 R225S probably benign Het
Cbfb T A 8: 105,178,680 Y85N probably damaging Het
Col13a1 G T 10: 61,862,025 probably benign Het
Dclk2 T C 3: 86,793,293 I626V probably damaging Het
Epb41 G A 4: 132,003,754 T172M probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Glyat A T 19: 12,651,261 D140V probably damaging Het
Gm13089 G A 4: 143,698,481 Q131* probably null Het
Hikeshi A T 7: 89,935,922 F25I probably damaging Het
Ifi204 A G 1: 173,749,314 Y574H possibly damaging Het
Kcnd3 C T 3: 105,667,001 R501* probably null Het
Kdm4a T C 4: 118,177,465 E23G probably damaging Het
Map3k19 C T 1: 127,824,246 S456N probably damaging Het
Mgat4c A G 10: 102,385,160 probably benign Het
Nup214 A G 2: 31,988,188 N289S possibly damaging Het
Obsl1 G T 1: 75,498,149 A674D possibly damaging Het
Olfr384 A T 11: 73,602,706 N42I probably damaging Het
Olfr640 A T 7: 104,022,104 probably null Het
Pak2 T C 16: 32,044,002 probably null Het
Per1 A G 11: 69,102,175 D286G probably damaging Het
Prdx2 T A 8: 84,974,052 D188E probably benign Het
Ptgis T C 2: 167,206,737 K453R probably damaging Het
Radil A G 5: 142,506,463 V470A probably benign Het
Rgs12 A G 5: 34,966,120 S416G probably damaging Het
Rnf213 A G 11: 119,463,336 H4013R probably benign Het
Ttc17 A G 2: 94,377,710 L185P probably damaging Het
Ttn A G 2: 76,712,424 I33406T probably damaging Het
Ube2e1 A G 14: 18,331,062 probably benign Het
Other mutations in Pde4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Pde4a APN 9 21211061 missense probably benign 0.01
IGL01330:Pde4a APN 9 21192438 splice site probably benign
IGL01403:Pde4a APN 9 21205116 missense probably damaging 1.00
IGL01610:Pde4a APN 9 21211350 utr 3 prime probably benign
IGL02010:Pde4a APN 9 21203554 critical splice donor site probably null
IGL02637:Pde4a APN 9 21201332 missense probably damaging 0.97
PIT4696001:Pde4a UTSW 9 21211001 missense probably benign
R0032:Pde4a UTSW 9 21201432 splice site probably benign
R0032:Pde4a UTSW 9 21201432 splice site probably benign
R0257:Pde4a UTSW 9 21192421 missense probably damaging 1.00
R0504:Pde4a UTSW 9 21204403 missense probably damaging 1.00
R1437:Pde4a UTSW 9 21192592 critical splice donor site probably null
R1524:Pde4a UTSW 9 21201247 missense probably damaging 0.98
R1750:Pde4a UTSW 9 21203232 missense probably damaging 1.00
R2239:Pde4a UTSW 9 21211268 missense probably damaging 1.00
R2905:Pde4a UTSW 9 21201349 missense probably benign 0.01
R2991:Pde4a UTSW 9 21203243 missense probably damaging 0.96
R3972:Pde4a UTSW 9 21206217 missense probably damaging 1.00
R4826:Pde4a UTSW 9 21192380 splice site probably null
R4922:Pde4a UTSW 9 21210713 missense probably damaging 1.00
R5195:Pde4a UTSW 9 21204333 missense possibly damaging 0.70
R5208:Pde4a UTSW 9 21203558 splice site probably null
R5552:Pde4a UTSW 9 21201386 missense probably damaging 1.00
R5713:Pde4a UTSW 9 21203517 missense probably damaging 1.00
R6722:Pde4a UTSW 9 21211225 missense probably damaging 1.00
R6792:Pde4a UTSW 9 21192590 missense probably benign 0.03
R6861:Pde4a UTSW 9 21205301 missense probably damaging 1.00
R6901:Pde4a UTSW 9 21204970 missense probably benign 0.37
R7300:Pde4a UTSW 9 21206322 missense probably damaging 1.00
R7690:Pde4a UTSW 9 21166004 missense probably damaging 1.00
R7798:Pde4a UTSW 9 21198663 missense possibly damaging 0.63
R8073:Pde4a UTSW 9 21210769 missense probably damaging 1.00
R8133:Pde4a UTSW 9 21191377 missense possibly damaging 0.87
R8167:Pde4a UTSW 9 21206173 missense possibly damaging 0.95
R8297:Pde4a UTSW 9 21166108 missense possibly damaging 0.94
R8348:Pde4a UTSW 9 21206238 missense probably benign 0.35
R8448:Pde4a UTSW 9 21206238 missense probably benign 0.35
X0027:Pde4a UTSW 9 21198654 missense probably damaging 1.00
Posted On2015-04-16