Incidental Mutation 'IGL03355:Pde4c'
ID419919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde4c
Ensembl Gene ENSMUSG00000031842
Gene Namephosphodiesterase 4C, cAMP specific
SynonymsE130301F19Rik, dunce, Dpde1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03355
Quality Score
Status
Chromosome8
Chromosomal Location70723720-70751186 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70746595 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 182 (L182Q)
Ref Sequence ENSEMBL: ENSMUSP00000153213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034307] [ENSMUST00000110095] [ENSMUST00000123739] [ENSMUST00000224874]
Predicted Effect probably damaging
Transcript: ENSMUST00000034307
AA Change: L222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: L222Q

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
HDc 386 512 1.48e0 SMART
Pfam:PDEase_I 526 598 5.3e-21 PFAM
low complexity region 625 636 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110095
AA Change: L222Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: L222Q

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
HDc 386 561 5.11e-6 SMART
low complexity region 659 670 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123739
SMART Domains Protein: ENSMUSP00000119312
Gene: ENSMUSG00000031842

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149272
Predicted Effect probably damaging
Transcript: ENSMUST00000224874
AA Change: L182Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik C A X: 107,788,283 V180F possibly damaging Het
Actrt1 T C X: 46,329,747 V213A probably benign Het
Adam28 A T 14: 68,634,803 probably benign Het
Apeh T C 9: 108,086,445 H557R probably benign Het
Atmin T A 8: 116,957,425 L608* probably null Het
B3gnt5 A T 16: 19,769,153 M41L probably benign Het
Best3 T C 10: 116,993,105 F97L possibly damaging Het
Col7a1 G A 9: 108,978,160 V2486M unknown Het
Crym T C 7: 120,199,313 probably null Het
Cubn T C 2: 13,478,057 probably null Het
Dnah7b A G 1: 46,119,304 D349G probably benign Het
Eea1 T C 10: 96,042,212 probably benign Het
Emc1 C T 4: 139,371,593 probably benign Het
Eps8 T C 6: 137,512,145 probably benign Het
Ereg A G 5: 91,088,581 probably benign Het
Faah G A 4: 116,002,528 P369S probably benign Het
Fam135a A T 1: 24,029,168 N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 S622P probably damaging Het
Gm10030 A G 9: 111,006,773 noncoding transcript Het
Gpr179 A T 11: 97,337,608 S1240R possibly damaging Het
Hax1 A T 3: 89,997,447 H146Q possibly damaging Het
Ift46 A G 9: 44,782,148 N31D possibly damaging Het
Kel C T 6: 41,698,887 probably null Het
Khk A T 5: 30,929,560 I108L probably benign Het
Morc4 T C X: 139,849,682 N375S probably null Het
Mta3 A T 17: 83,800,045 probably benign Het
Nacc2 T C 2: 26,062,237 K369R probably damaging Het
Nkap T C X: 37,139,670 probably benign Het
Obscn A T 11: 59,037,792 L6016Q probably damaging Het
Olfr25 A T 9: 38,329,656 Q20L probably benign Het
Olfr589 T C 7: 103,155,201 E182G probably damaging Het
Pla2g10 G T 16: 13,730,420 probably null Het
Rap1gap2 T A 11: 74,412,344 I426F probably damaging Het
Rbm33 C A 5: 28,391,061 probably benign Het
Rnf139 C A 15: 58,900,032 D635E probably benign Het
Sar1a T C 10: 61,684,939 V15A possibly damaging Het
Scarb1 A C 5: 125,289,702 S56A probably benign Het
Scn3a T C 2: 65,460,568 K1945E possibly damaging Het
Sec62 G A 3: 30,809,922 G118R unknown Het
Sgce T A 6: 4,689,738 Q356L probably damaging Het
Slco4c1 A T 1: 96,842,507 Y277* probably null Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Sphkap A T 1: 83,280,503 I173N probably damaging Het
Spred3 C T 7: 29,161,572 C394Y unknown Het
Stra6l A G 4: 45,873,689 D283G probably benign Het
Tipin A T 9: 64,288,124 Q4L probably benign Het
Tmprss11c T A 5: 86,231,871 I380F probably benign Het
Tymp T C 15: 89,375,016 D195G possibly damaging Het
Ugt2b34 T A 5: 86,906,685 Y79F probably benign Het
Vmn2r16 T A 5: 109,363,714 S596T possibly damaging Het
Wdhd1 A G 14: 47,243,889 S1024P possibly damaging Het
Other mutations in Pde4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01938:Pde4c APN 8 70749378 missense probably damaging 1.00
IGL02052:Pde4c APN 8 70748413 missense probably damaging 0.99
IGL02484:Pde4c APN 8 70748052 splice site probably benign
IGL02567:Pde4c APN 8 70747921 missense probably benign 0.11
coffee UTSW 8 70745329 missense probably damaging 0.99
tea UTSW 8 70748972 missense possibly damaging 0.67
R0396:Pde4c UTSW 8 70750076 missense probably benign
R1103:Pde4c UTSW 8 70748417 missense probably damaging 1.00
R1161:Pde4c UTSW 8 70749923 missense possibly damaging 0.90
R1310:Pde4c UTSW 8 70749923 missense possibly damaging 0.90
R1420:Pde4c UTSW 8 70748417 missense probably damaging 1.00
R1456:Pde4c UTSW 8 70746613 missense probably benign 0.42
R1586:Pde4c UTSW 8 70746859 missense probably damaging 1.00
R1817:Pde4c UTSW 8 70726989 missense probably benign
R1818:Pde4c UTSW 8 70726989 missense probably benign
R1843:Pde4c UTSW 8 70747950 missense probably damaging 1.00
R1984:Pde4c UTSW 8 70724542 missense probably damaging 1.00
R2001:Pde4c UTSW 8 70747358 unclassified probably null
R2088:Pde4c UTSW 8 70749356 missense possibly damaging 0.88
R4334:Pde4c UTSW 8 70749826 splice site probably null
R5369:Pde4c UTSW 8 70750105 makesense probably null
R5521:Pde4c UTSW 8 70747382 critical splice donor site probably null
R6168:Pde4c UTSW 8 70750039 missense probably benign 0.01
R6749:Pde4c UTSW 8 70746010 missense probably damaging 1.00
R7197:Pde4c UTSW 8 70745329 missense probably damaging 0.99
R7426:Pde4c UTSW 8 70748972 missense possibly damaging 0.67
Posted On2016-08-02