Incidental Mutation 'R1103:Pde4c'
ID 98274
Institutional Source Beutler Lab
Gene Symbol Pde4c
Ensembl Gene ENSMUSG00000031842
Gene Name phosphodiesterase 4C, cAMP specific
Synonyms Dpde1, dunce, E130301F19Rik
MMRRC Submission 039176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1103 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 71176485-71203835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71201066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 421 (H421Q)
Ref Sequence ENSEMBL: ENSMUSP00000153213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034307] [ENSMUST00000110095] [ENSMUST00000123739] [ENSMUST00000224874]
AlphaFold Q3UEI1
Predicted Effect probably damaging
Transcript: ENSMUST00000034307
AA Change: H461Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842
AA Change: H461Q

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: H461Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842
AA Change: H461Q

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: H421Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9412 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 97% (60/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930524J08Rik G A 5: 100,126,980 (GRCm39) probably benign Het
Adam3 T A 8: 25,204,287 (GRCm39) probably benign Het
Adpgk A G 9: 59,221,079 (GRCm39) H295R probably damaging Het
Aftph A T 11: 20,676,547 (GRCm39) M199K probably benign Het
Ap2a1 C A 7: 44,553,593 (GRCm39) probably benign Het
Atpaf2 T C 11: 60,294,776 (GRCm39) I216V probably benign Het
Bag4 A T 8: 26,257,891 (GRCm39) probably benign Het
Bltp1 A T 3: 37,050,672 (GRCm39) M3003L probably benign Het
Bud23 T C 5: 135,089,993 (GRCm39) S67G probably damaging Het
Cfap157 A G 2: 32,671,410 (GRCm39) F132S probably damaging Het
Cngb3 G A 4: 19,309,658 (GRCm39) probably null Het
Cntnap5a A G 1: 116,508,399 (GRCm39) I1304V possibly damaging Het
Cp A G 3: 20,036,149 (GRCm39) K764E possibly damaging Het
Crebbp A G 16: 3,901,925 (GRCm39) V2438A probably damaging Het
Csmd3 A T 15: 47,811,402 (GRCm39) W1230R probably damaging Het
Cul1 G A 6: 47,494,111 (GRCm39) V475I probably benign Het
Dnttip2 T C 3: 122,070,071 (GRCm39) S429P probably benign Het
Dtwd1 T C 2: 125,996,643 (GRCm39) S43P probably damaging Het
Ect2l T C 10: 18,016,274 (GRCm39) T705A probably damaging Het
Erbin G T 13: 104,022,710 (GRCm39) T43N probably benign Het
Fcgbpl1 G T 7: 27,853,945 (GRCm39) L1636F probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gpr150 G T 13: 76,203,712 (GRCm39) P411Q probably damaging Het
Grap C A 11: 61,562,544 (GRCm39) Q172K probably benign Het
Ido2 G A 8: 25,066,239 (GRCm39) T9M probably benign Het
Klkb1 C A 8: 45,729,183 (GRCm39) C347F probably damaging Het
Klra17 G A 6: 129,845,806 (GRCm39) probably benign Het
Lama1 T C 17: 68,097,942 (GRCm39) L1774P probably damaging Het
Lhpp A T 7: 132,212,484 (GRCm39) D17V probably damaging Het
Lrfn4 T C 19: 4,663,299 (GRCm39) T412A probably benign Het
Lrrc7 C T 3: 157,854,343 (GRCm39) probably benign Het
Ltbp3 A T 19: 5,797,439 (GRCm39) probably null Het
Ltbp3 G C 19: 5,797,440 (GRCm39) probably null Het
Luzp1 T A 4: 136,268,041 (GRCm39) L88Q possibly damaging Het
Magi2 T C 5: 20,816,101 (GRCm39) I747T probably damaging Het
Map1b A T 13: 99,563,974 (GRCm39) probably benign Het
Map3k4 A T 17: 12,455,950 (GRCm39) probably null Het
Map3k5 C A 10: 19,899,422 (GRCm39) D226E probably benign Het
Mtf1 T A 4: 124,732,261 (GRCm39) S440T probably benign Het
Myo18a T A 11: 77,714,156 (GRCm39) L389Q probably damaging Het
Myom2 A G 8: 15,160,827 (GRCm39) D900G probably benign Het
Nfasc T C 1: 132,534,795 (GRCm39) probably benign Het
Obscn A T 11: 58,912,309 (GRCm39) S7044R probably damaging Het
Or5bw2 T A 7: 6,573,111 (GRCm39) N40K probably damaging Het
Or5e1 T C 7: 108,354,090 (GRCm39) V9A possibly damaging Het
Or6k4 T C 1: 173,964,457 (GRCm39) V49A probably benign Het
Pnmt G T 11: 98,278,502 (GRCm39) R156L probably benign Het
Pramel22 A C 4: 143,381,942 (GRCm39) C251W probably damaging Het
Rnf138 A G 18: 21,159,159 (GRCm39) E193G probably damaging Het
Sesn1 G T 10: 41,778,589 (GRCm39) R346L possibly damaging Het
Setd4 G T 16: 93,382,082 (GRCm39) H390Q probably benign Het
Supt6 T C 11: 78,116,299 (GRCm39) E688G possibly damaging Het
Syne2 G A 12: 76,156,609 (GRCm39) D6802N probably benign Het
Syt16 A G 12: 74,313,672 (GRCm39) K533E probably damaging Het
Tg A T 15: 66,591,504 (GRCm39) Q26H probably benign Het
Trim33 G T 3: 103,218,201 (GRCm39) W250L probably damaging Het
Trip4 A G 9: 65,788,188 (GRCm39) C86R probably benign Het
Upf2 T A 2: 6,030,986 (GRCm39) C809S unknown Het
Vrk2 A G 11: 26,499,325 (GRCm39) F76L probably damaging Het
Zfp804a A G 2: 82,087,844 (GRCm39) T558A probably damaging 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
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
R6749:Pde4c UTSW 8 71,198,659 (GRCm39) missense probably damaging 1.00
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'- GTTGCCCAGTATGTCCTCAACTGTC -3'
(R):5'- AATCAAGCGGGCCACTGGAAAC -3'

Sequencing Primer
(F):5'- TATCTTGCAGACTCAGACGG -3'
(R):5'- AAACCCCGTGCCTGTTG -3'
Posted On 2014-01-05