Incidental Mutation 'IGL02010:Pde4a'
ID183347
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? Possibly non essential (E-score: 0.277) question?
Stock #IGL02010
Quality Score
Status
Chromosome9
Chromosomal Location21165714-21213248 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 21203554 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003395] [ENSMUST00000039413] [ENSMUST00000115458]
Predicted Effect probably null
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 probably null
Transcript: ENSMUST00000039413
SMART Domains Protein: ENSMUSP00000037025
Gene: ENSMUSG00000032177

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 null
Transcript: ENSMUST00000115458
SMART Domains Protein: ENSMUSP00000111118
Gene: ENSMUSG00000032177

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A T 14: 8,578,384 H119Q possibly damaging Het
Abca6 T C 11: 110,219,616 D569G probably benign Het
Abhd17b C T 19: 21,684,121 T224I probably benign Het
Atf6b T A 17: 34,654,652 S695R probably benign Het
BC027072 T A 17: 71,749,464 T1073S probably benign Het
Cdh6 A C 15: 13,034,190 probably benign Het
Cep290 T C 10: 100,561,345 S2156P probably benign Het
Cep290 G T 10: 100,508,707 C462F probably benign Het
Cit T C 5: 115,875,947 F240L probably damaging Het
Col1a2 T A 6: 4,512,416 probably null Het
Ctcf T A 8: 105,664,965 H297Q probably damaging Het
Dhx29 T C 13: 112,966,634 probably null Het
Dhx37 T G 5: 125,418,713 T835P possibly damaging Het
Enc1 C T 13: 97,245,080 L33F possibly damaging Het
Epyc T A 10: 97,649,701 M1K probably null Het
F10 T C 8: 13,048,292 I165T probably damaging Het
Fam124a T C 14: 62,587,279 L74P probably damaging Het
Fam234b A G 6: 135,209,407 S138G probably benign Het
Fam81a T C 9: 70,099,137 K198E probably benign Het
Fbn2 T C 18: 58,037,722 Y2199C probably damaging Het
Fign A C 2: 63,980,400 S175R probably damaging Het
Grik1 T C 16: 88,051,508 N124S possibly damaging Het
Hdac9 G T 12: 34,431,945 L175M probably damaging Het
Hephl1 A C 9: 15,090,556 Y163* probably null Het
Hes1 G A 16: 30,067,310 G244D probably damaging Het
Hexb A G 13: 97,176,845 L501P probably benign Het
Igkv5-45 T C 6: 69,775,952 I49V probably benign Het
Ipo5 T C 14: 120,933,377 S491P probably benign Het
Jakmip2 C T 18: 43,559,093 probably null Het
Lrfn5 A G 12: 61,839,683 T86A probably damaging Het
Lrp1b T C 2: 41,468,942 T640A probably damaging Het
M6pr G T 6: 122,315,126 R139L possibly damaging Het
Myl9 A T 2: 156,778,659 N39Y probably damaging Het
Nlrp3 A G 11: 59,549,535 D646G probably benign Het
Nlrp5 A T 7: 23,417,372 M174L probably benign Het
Nnmt T A 9: 48,592,031 I232F probably damaging Het
Nrg1 T C 8: 31,918,143 T21A probably benign Het
Olfr1095 C T 2: 86,851,197 C167Y possibly damaging Het
Olfr808 A G 10: 129,768,267 Y257C probably benign Het
Pcdh7 T G 5: 58,129,255 N1224K probably benign Het
Pfkfb3 T C 2: 11,483,994 T320A probably benign Het
Plekhm2 T C 4: 141,637,419 probably benign Het
Rabgap1l C T 1: 160,472,071 R584H probably damaging Het
Rnf157 T A 11: 116,396,226 N57I probably damaging Het
Rtf1 G A 2: 119,701,266 probably null Het
Sap130 C A 18: 31,649,602 R189S probably damaging Het
Slc17a2 T G 13: 23,819,042 V225G probably benign Het
Smg1 T C 7: 118,186,146 probably benign Het
Tecta G A 9: 42,337,193 T1971I probably damaging Het
Tmem136 A T 9: 43,111,564 V165E probably damaging Het
Tmem263 T A 10: 85,114,410 S22T probably benign Het
Tnrc18 A T 5: 142,787,294 F410L unknown Het
Ttc27 T G 17: 74,780,911 probably benign Het
Vmn1r45 A T 6: 89,933,686 C101S probably damaging Het
Wdr17 T C 8: 54,659,703 K781E probably damaging Het
Xkr6 C T 14: 63,819,204 T188M 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
IGL02296:Pde4a APN 9 21192569 missense possibly damaging 0.94
IGL02637:Pde4a APN 9 21201332 missense probably damaging 0.97
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
X0027:Pde4a UTSW 9 21198654 missense probably damaging 1.00
Posted On2014-05-07