Incidental Mutation 'R6749:Pde4c'
ID 532890
Institutional Source Beutler Lab
Gene Symbol Pde4c
Ensembl Gene ENSMUSG00000031842
Gene Name phosphodiesterase 4C, cAMP specific
Synonyms Dpde1, dunce, E130301F19Rik
MMRRC Submission 044866-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6749 (G1)
Quality Score 199.009
Status Validated
Chromosome 8
Chromosomal Location 71176485-71203835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71198659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 167 (V167A)
Ref Sequence ENSEMBL: ENSMUSP00000119312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034307] [ENSMUST00000110095] [ENSMUST00000123739] [ENSMUST00000224874]
AlphaFold Q3UEI1
Predicted Effect possibly damaging
Transcript: ENSMUST00000034307
AA Change: V167A

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: V167A

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 possibly damaging
Transcript: ENSMUST00000110095
AA Change: V167A

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: V167A

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 damaging
Transcript: ENSMUST00000123739
AA Change: V167A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119312
Gene: ENSMUSG00000031842
AA Change: V167A

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000224874
AA Change: V127A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2116 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,600 (GRCm39) V875A possibly damaging Het
Arhgef15 A T 11: 68,845,383 (GRCm39) F156L probably damaging Het
Bdh2 T A 3: 135,006,452 (GRCm39) S184T probably damaging Het
Bmp5 A T 9: 75,683,375 (GRCm39) M1L probably benign Het
Cacfd1 T C 2: 26,908,467 (GRCm39) Y134H probably damaging Het
Camk1 G A 6: 113,311,486 (GRCm39) P340L probably benign Het
Cdc14a T C 3: 116,090,807 (GRCm39) H424R possibly damaging Het
Cntfr T A 4: 41,663,232 (GRCm39) T192S possibly damaging Het
Erbin G T 13: 103,970,885 (GRCm39) S910R probably damaging Het
Esrp1 A T 4: 11,357,519 (GRCm39) V366E probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 T A 2: 82,808,738 (GRCm39) S1686T possibly damaging Het
Gata5 A G 2: 179,976,143 (GRCm39) L7S probably damaging Het
Hgf T A 5: 16,818,640 (GRCm39) probably null Het
Ift140 A G 17: 25,317,890 (GRCm39) E1458G probably damaging Het
Ift57 G A 16: 49,581,347 (GRCm39) G209R probably benign Het
Il12rb2 G T 6: 67,338,950 (GRCm39) probably benign Het
Krt78 G A 15: 101,859,358 (GRCm39) R280C probably damaging Het
Lipc A G 9: 70,730,668 (GRCm39) I88T probably damaging Het
Lrmda G T 14: 22,077,344 (GRCm39) R27L probably benign Het
Lrrc37a T G 11: 103,392,923 (GRCm39) E834A probably benign Het
Mmachc C A 4: 116,561,738 (GRCm39) R132L probably damaging Het
Myo10 T C 15: 25,714,196 (GRCm39) Y88H probably damaging Het
Myo5b G A 18: 74,834,574 (GRCm39) R878Q possibly damaging Het
Or2y1f A G 11: 49,184,877 (GRCm39) H243R probably damaging Het
Padi3 T C 4: 140,523,164 (GRCm39) T289A possibly damaging Het
Pcdhgb4 G T 18: 37,854,282 (GRCm39) A226S possibly damaging Het
Pigr A G 1: 130,774,285 (GRCm39) T422A probably benign Het
Pmp2 T C 3: 10,247,542 (GRCm39) Y49C probably benign Het
Prpf39 A G 12: 65,103,048 (GRCm39) I441V possibly damaging Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rsad1 T C 11: 94,434,166 (GRCm39) E354G probably damaging Het
Sema4b T A 7: 79,869,949 (GRCm39) D412E possibly damaging Het
Siglecg A G 7: 43,058,403 (GRCm39) I97V probably benign Het
Slc4a3 C T 1: 75,531,182 (GRCm39) R792* probably null Het
Slc6a20a A G 9: 123,466,135 (GRCm39) C569R probably damaging Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Sult2a3 T A 7: 13,816,629 (GRCm39) Y183F probably benign Het
Tedc1 C T 12: 113,121,702 (GRCm39) T194M probably damaging Het
Tektl1 A C 10: 78,588,672 (GRCm39) M46R possibly damaging Het
Tmem63c T A 12: 87,122,439 (GRCm39) N412K probably damaging Het
Trav5-1 T C 14: 52,860,402 (GRCm39) I69T possibly damaging Het
Trim68 T C 7: 102,327,990 (GRCm39) D321G probably damaging Het
Ttn T C 2: 76,695,600 (GRCm39) probably benign Het
Vars2 A G 17: 35,977,605 (GRCm39) V109A probably damaging Het
Vmn2r96 C T 17: 18,818,352 (GRCm39) P643L probably damaging Het
Zfpm2 G T 15: 40,818,104 (GRCm39) V146F possibly damaging Het
Znfx1 T C 2: 166,898,519 (GRCm39) K135R probably benign Het
Other mutations in Pde4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01938:Pde4c APN 8 71,202,027 (GRCm39) missense probably damaging 1.00
IGL02052:Pde4c APN 8 71,201,062 (GRCm39) missense probably damaging 0.99
IGL02484:Pde4c APN 8 71,200,701 (GRCm39) splice site probably benign
IGL02567:Pde4c APN 8 71,200,570 (GRCm39) missense probably benign 0.11
IGL03355:Pde4c APN 8 71,199,244 (GRCm39) missense probably damaging 1.00
coffee UTSW 8 71,197,978 (GRCm39) missense probably damaging 0.99
tea UTSW 8 71,201,621 (GRCm39) missense possibly damaging 0.67
R0396:Pde4c UTSW 8 71,202,725 (GRCm39) missense probably benign
R1103:Pde4c UTSW 8 71,201,066 (GRCm39) missense probably damaging 1.00
R1161:Pde4c UTSW 8 71,202,572 (GRCm39) missense possibly damaging 0.90
R1310:Pde4c UTSW 8 71,202,572 (GRCm39) missense possibly damaging 0.90
R1420:Pde4c UTSW 8 71,201,066 (GRCm39) missense probably damaging 1.00
R1456:Pde4c UTSW 8 71,199,262 (GRCm39) missense probably benign 0.42
R1586:Pde4c UTSW 8 71,199,508 (GRCm39) missense probably damaging 1.00
R1817:Pde4c UTSW 8 71,179,638 (GRCm39) missense probably benign
R1818:Pde4c UTSW 8 71,179,638 (GRCm39) missense probably benign
R1843:Pde4c UTSW 8 71,200,599 (GRCm39) missense probably damaging 1.00
R1984:Pde4c UTSW 8 71,177,191 (GRCm39) missense probably damaging 1.00
R2001:Pde4c UTSW 8 71,200,007 (GRCm39) splice site probably null
R2088:Pde4c UTSW 8 71,202,005 (GRCm39) missense possibly damaging 0.88
R4334:Pde4c UTSW 8 71,202,475 (GRCm39) splice site probably null
R5369:Pde4c UTSW 8 71,202,754 (GRCm39) makesense probably null
R5521:Pde4c UTSW 8 71,200,031 (GRCm39) critical splice donor site probably null
R6168:Pde4c UTSW 8 71,202,688 (GRCm39) missense probably benign 0.01
R7197:Pde4c UTSW 8 71,197,978 (GRCm39) missense probably damaging 0.99
R7426:Pde4c UTSW 8 71,201,621 (GRCm39) missense possibly damaging 0.67
R9004:Pde4c UTSW 8 71,199,515 (GRCm39) missense possibly damaging 0.66
R9038:Pde4c UTSW 8 71,179,550 (GRCm39) missense probably benign 0.03
R9134:Pde4c UTSW 8 71,201,160 (GRCm39) missense probably damaging 1.00
R9584:Pde4c UTSW 8 71,200,728 (GRCm39) missense probably benign 0.25
R9707:Pde4c UTSW 8 71,202,701 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTCAGTGATGGTCTTGTCCTG -3'
(R):5'- CAGAGGACTTTCACAGCTGC -3'

Sequencing Primer
(F):5'- ATGGTCTTGTCCTGCAGAC -3'
(R):5'- ATACCTGTTGGGGCTGCC -3'
Posted On 2018-08-29