Incidental Mutation 'IGL02052:Pde4c'
ID185100
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 #IGL02052
Quality Score
Status
Chromosome8
Chromosomal Location70723720-70751186 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70748413 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 420 (N420S)
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: N460S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: N460S

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: N460S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: N460S

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: N420S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef37 C T 18: 61,499,768 V533M probably damaging Het
Bicd2 A G 13: 49,379,189 D343G possibly damaging Het
Ccl26 C T 5: 135,563,339 S48N possibly damaging Het
Cdkn1b A T 6: 134,921,007 R30* probably null Het
Cds1 G T 5: 101,814,472 V318L probably benign Het
Ceacam11 A G 7: 17,973,623 S111G probably benign Het
Cntn1 A C 15: 92,291,703 I636L possibly damaging Het
Cog2 G A 8: 124,542,888 probably null Het
Cyp2g1 G A 7: 26,814,294 probably benign Het
Ddx54 T C 5: 120,625,718 V644A possibly damaging Het
Dnah1 T C 14: 31,268,786 Q3192R probably damaging Het
Dyrk2 T G 10: 118,860,543 H270P probably damaging Het
Ephb6 A G 6: 41,613,322 T3A probably benign Het
Fam120a G A 13: 48,933,945 probably benign Het
Fam184a A G 10: 53,697,120 probably benign Het
Fmo1 A G 1: 162,850,060 probably null Het
Gaa A G 11: 119,284,195 Y874C possibly damaging Het
Gabrr1 T A 4: 33,152,567 I169N probably damaging Het
Gm13083 A C 4: 143,615,073 D24A probably benign Het
Gm13734 T C 2: 87,136,321 probably null Het
Gnb1 T C 4: 155,533,691 probably benign Het
Hecw2 G T 1: 53,926,511 F385L probably benign Het
Kif5a C T 10: 127,243,499 V277M probably damaging Het
Mogat2 A T 7: 99,238,564 M1K probably null Het
Mrgprx2 A T 7: 48,482,294 W259R possibly damaging Het
Nf1 T C 11: 79,412,727 L410S probably damaging Het
Ntn4 T G 10: 93,707,349 N312K probably damaging Het
Papss2 T C 19: 32,660,583 V365A possibly damaging Het
Plec C T 15: 76,180,341 R1911H probably damaging Het
Rnf19b A G 4: 129,071,820 H237R probably damaging Het
Slfn4 T C 11: 83,186,974 L196P possibly damaging Het
Steap2 G T 5: 5,673,586 F431L probably damaging Het
Tex15 A G 8: 33,582,465 E2680G probably benign Het
Tmprss15 A T 16: 79,087,506 I96N probably damaging Het
Trim34a T G 7: 104,247,831 V34G probably benign Het
Ttyh1 A G 7: 4,130,574 probably benign Het
Usp29 A C 7: 6,962,526 H456P probably benign Het
Wdfy1 A G 1: 79,714,944 S219P probably damaging Het
Zfp738 A T 13: 67,671,481 S117R possibly damaging Het
Other mutations in Pde4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01938:Pde4c APN 8 70749378 missense probably damaging 1.00
IGL02484:Pde4c APN 8 70748052 splice site probably benign
IGL02567:Pde4c APN 8 70747921 missense probably benign 0.11
IGL03355:Pde4c APN 8 70746595 missense probably damaging 1.00
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 On2014-05-07