Incidental Mutation 'IGL02567:Pde4c'
ID298882
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 #IGL02567
Quality Score
Status
Chromosome8
Chromosomal Location70723720-70751186 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70747921 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 352 (M352K)
Ref Sequence ENSEMBL: ENSMUSP00000153213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034307] [ENSMUST00000110095] [ENSMUST00000123739] [ENSMUST00000224874]
Predicted Effect probably benign
Transcript: ENSMUST00000034307
AA Change: M392K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: M392K

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 benign
Transcript: ENSMUST00000110095
AA Change: M392K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: M392K

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 benign
Transcript: ENSMUST00000224874
AA Change: M352K

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,372,751 S199R possibly damaging Het
Ano1 A G 7: 144,611,625 L621P probably damaging Het
Calcr C T 6: 3,691,564 V404M probably damaging Het
Carmil3 A G 14: 55,498,882 S635G possibly damaging Het
Ccl12 C A 11: 82,102,621 S28R possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr3 T C 12: 33,038,901 N761D probably benign Het
Col14a1 T C 15: 55,344,961 probably null Het
Col28a1 T C 6: 8,014,819 K862R possibly damaging Het
Cyp2c66 C T 19: 39,186,640 probably benign Het
D5Ertd615e T C 5: 45,163,416 noncoding transcript Het
Deup1 T C 9: 15,575,283 E367G probably damaging Het
Dpp8 T G 9: 65,078,776 Y849* probably null Het
Efhc1 T A 1: 20,972,964 V369E probably damaging Het
Epg5 A G 18: 78,033,073 Y2562C probably damaging Het
Fam189a1 T A 7: 64,786,731 M101L possibly damaging Het
Fbln5 A G 12: 101,761,800 probably null Het
Frem1 A T 4: 83,000,055 M551K probably damaging Het
Gba2 T C 4: 43,567,281 S889G probably benign Het
Golph3 C T 15: 12,349,421 R176* probably null Het
Got2 A T 8: 95,872,201 F191Y probably benign Het
Gtf2ird2 G T 5: 134,213,048 probably benign Het
Hist4h4 G A 6: 136,804,274 R36W probably damaging Het
Hivep3 A G 4: 120,133,956 T2218A probably damaging Het
Htr1f C T 16: 64,926,248 G227D probably benign Het
Ifi202b C T 1: 173,963,804 S436N possibly damaging Het
Nf1 T A 11: 79,547,143 V2109D probably damaging Het
Opa1 C A 16: 29,588,286 D29E probably benign Het
Papln C T 12: 83,778,837 P631S probably benign Het
Pigu T C 2: 155,331,192 T129A possibly damaging Het
Pla2g4c T A 7: 13,346,040 H424Q probably damaging Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Rbm5 T C 9: 107,744,274 D642G probably damaging Het
Rnf111 T C 9: 70,459,005 T384A probably damaging Het
Scn11a T C 9: 119,804,489 T393A probably damaging Het
Sned1 A T 1: 93,274,347 K619M probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syt9 A G 7: 107,436,661 Y295C probably damaging Het
Taar7f T A 10: 24,050,425 Y306N probably damaging Het
Tmem107 T G 11: 69,071,019 L25V possibly damaging Het
Wdr24 T G 17: 25,824,348 I48S probably damaging Het
Zc3hc1 T C 6: 30,374,849 D231G probably benign Het
Zfp142 T A 1: 74,578,147 S342C possibly damaging Het
Zfp142 T G 1: 74,578,149 K341T possibly damaging Het
Zfp142 T C 1: 74,578,150 K341E possibly damaging Het
Zfp804b T A 5: 6,769,989 I989L probably benign Het
Zfyve9 A C 4: 108,674,523 V1095G probably 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
IGL03355:Pde4c APN 8 70746595 missense probably damaging 1.00
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 On2015-04-16