Incidental Mutation 'R4666:Pde7a'
ID 351892
Institutional Source Beutler Lab
Gene Symbol Pde7a
Ensembl Gene ENSMUSG00000069094
Gene Name phosphodiesterase 7A
MMRRC Submission 041924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R4666 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 19223108-19311322 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19260256 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 59 (T59A)
Ref Sequence ENSEMBL: ENSMUSP00000096800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091314] [ENSMUST00000099195] [ENSMUST00000121951] [ENSMUST00000149081] [ENSMUST00000156652]
AlphaFold P70453
Predicted Effect possibly damaging
Transcript: ENSMUST00000091314
AA Change: T33A

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000088863
Gene: ENSMUSG00000069094
AA Change: T33A

signal peptide 1 19 N/A INTRINSIC
HDc 183 350 2.91e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099195
AA Change: T59A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
AA Change: T59A

low complexity region 21 37 N/A INTRINSIC
HDc 209 376 2.91e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121951
AA Change: T33A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113173
Gene: ENSMUSG00000069094
AA Change: T33A

signal peptide 1 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143120
Predicted Effect probably benign
Transcript: ENSMUST00000149081
Predicted Effect probably damaging
Transcript: ENSMUST00000156652
AA Change: T59A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119685
Gene: ENSMUSG00000069094
AA Change: T59A

low complexity region 21 37 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 PDE7 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]
PHENOTYPE: Homozygous inactivation of this locus does not impair T cell function but affects the humoral immune response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik G A 17: 36,978,902 (GRCm38) S12L probably benign Het
Abce1 A G 8: 79,687,486 (GRCm38) V532A probably damaging Het
Adamts12 T A 15: 11,311,492 (GRCm38) N1278K probably benign Het
Adipor1 T A 1: 134,424,905 (GRCm38) I138N probably damaging Het
Aox2 C T 1: 58,304,597 (GRCm38) Q480* probably null Het
Arhgef38 C T 3: 133,140,772 (GRCm38) probably null Het
Atmin A G 8: 116,957,959 (GRCm38) D786G probably damaging Het
Bltp3a G T 17: 27,893,503 (GRCm38) W1222L possibly damaging Het
Capn1 A T 19: 6,011,015 (GRCm38) N253K probably benign Het
Cdh8 T C 8: 99,024,902 (GRCm38) T728A possibly damaging Het
Celsr1 A G 15: 86,030,494 (GRCm38) S1093P probably damaging Het
Cep135 C A 5: 76,616,854 (GRCm38) P560T probably benign Het
Chfr C T 5: 110,144,867 (GRCm38) Q167* probably null Het
Chrna4 A G 2: 181,037,493 (GRCm38) S54P probably damaging Het
Cntln A G 4: 84,971,216 (GRCm38) N312S probably benign Het
Cntn6 A G 6: 104,728,284 (GRCm38) E154G probably benign Het
Col6a6 T A 9: 105,767,342 (GRCm38) Y1249F possibly damaging Het
Cpsf2 T C 12: 101,983,207 (GRCm38) S61P probably damaging Het
Cpvl C T 6: 53,931,933 (GRCm38) E282K probably benign Het
Cryba2 C T 1: 74,890,048 (GRCm38) D179N probably benign Het
Daglb A T 5: 143,503,349 (GRCm38) R654W probably damaging Het
Dennd3 A G 15: 73,570,860 (GRCm38) D1244G probably damaging Het
Dhx57 T C 17: 80,274,961 (GRCm38) E405G probably damaging Het
Dnah10 T C 5: 124,828,472 (GRCm38) M4060T possibly damaging Het
Dph1 A G 11: 75,181,330 (GRCm38) S238P probably damaging Het
Duox1 C T 2: 122,319,475 (GRCm38) P116S probably benign Het
Ebf1 A G 11: 44,991,557 (GRCm38) N447D probably damaging Het
Epg5 A G 18: 78,012,864 (GRCm38) N1751S probably benign Het
Exoc6 A G 19: 37,570,505 (GRCm38) D75G probably damaging Het
Extl2 T A 3: 116,024,207 (GRCm38) I70N probably damaging Het
Fanca T C 8: 123,268,972 (GRCm38) T1364A probably damaging Het
Fbln7 T A 2: 128,894,910 (GRCm38) probably null Het
Foxa3 G T 7: 19,014,372 (GRCm38) C275* probably null Het
Foxred1 C T 9: 35,210,855 (GRCm38) probably benign Het
Galr2 A G 11: 116,283,629 (GRCm38) T362A probably benign Het
Garem2 C A 5: 30,114,667 (GRCm38) R376S probably damaging Het
Garre1 T C 7: 34,284,773 (GRCm38) M142V probably damaging Het
Gatc T A 5: 115,335,547 (GRCm38) N111I probably benign Het
Gjb4 C A 4: 127,351,778 (GRCm38) K123N probably damaging Het
Gm9894 T C 13: 67,765,094 (GRCm38) noncoding transcript Het
Gtdc1 T C 2: 44,591,925 (GRCm38) N301S probably benign Het
Gtf2ird1 T A 5: 134,383,902 (GRCm38) E55V probably damaging Het
Gtsf1 T C 15: 103,421,205 (GRCm38) I96V probably benign Het
Homer1 T A 13: 93,402,159 (GRCm38) I170N probably damaging Het
Homer3 G A 8: 70,290,143 (GRCm38) probably null Het
Hoxb9 A G 11: 96,274,831 (GRCm38) K242R possibly damaging Het
Ifna14 T C 4: 88,571,336 (GRCm38) R155G probably benign Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,318,408 (GRCm38) probably benign Het
Lsm11 A G 11: 45,933,813 (GRCm38) S296P probably damaging Het
Macrod2 T C 2: 142,217,599 (GRCm38) L265P probably damaging Het
Mcu G A 10: 59,456,699 (GRCm38) L53F probably damaging Het
Mpv17l2 A G 8: 70,760,415 (GRCm38) V104A possibly damaging Het
Myh10 G A 11: 68,801,730 (GRCm38) probably null Het
Nemf T C 12: 69,312,280 (GRCm38) E1031G probably damaging Het
Nhsl1 G A 10: 18,531,405 (GRCm38) S1395N probably damaging Het
Niban3 G T 8: 71,603,825 (GRCm38) E390* probably null Het
Nlrp2 T A 7: 5,319,189 (GRCm38) I82F probably benign Het
Nlrp4e T A 7: 23,336,780 (GRCm38) L686* probably null Het
Nudt12os T A 17: 59,024,551 (GRCm38) noncoding transcript Het
Or10ag57 T A 2: 87,387,876 (GRCm38) I57K probably damaging Het
Or10j5 G A 1: 172,957,590 (GRCm38) S265N probably benign Het
Or2h1b A T 17: 37,151,379 (GRCm38) S44T possibly damaging Het
Or5ac23 A G 16: 59,329,210 (GRCm38) Y100H possibly damaging Het
Or5k16 T C 16: 58,916,584 (GRCm38) D19G probably benign Het
Or8g27 T A 9: 39,217,846 (GRCm38) M163K probably damaging Het
Pde7b A C 10: 20,438,750 (GRCm38) D203E probably damaging Het
Phkg2 T A 7: 127,577,984 (GRCm38) I94N possibly damaging Het
Pik3r2 G A 8: 70,768,859 (GRCm38) T667I possibly damaging Het
Pitx3 T A 19: 46,137,101 (GRCm38) H68L possibly damaging Het
Prcd A G 11: 116,668,164 (GRCm38) probably benign Het
Prune2 C T 19: 17,120,188 (GRCm38) R1019* probably null Het
Psap A G 10: 60,300,545 (GRCm38) D486G probably benign Het
Purb A T 11: 6,475,615 (GRCm38) V91E probably damaging Het
Recql C A 6: 142,376,841 (GRCm38) V112F probably damaging Het
Rptor A T 11: 119,743,882 (GRCm38) I175F probably damaging Het
Sbf1 C T 15: 89,295,246 (GRCm38) V1385M probably damaging Het
Serpinb13 C T 1: 106,982,844 (GRCm38) S66L probably damaging Het
Slc35f6 T C 5: 30,655,613 (GRCm38) L37P probably damaging Het
Slc6a3 T A 13: 73,538,581 (GRCm38) N22K possibly damaging Het
Sorl1 A T 9: 42,004,051 (GRCm38) M1294K probably damaging Het
Sp6 C A 11: 97,021,875 (GRCm38) A138E probably benign Het
Spag8 G T 4: 43,653,408 (GRCm38) probably benign Het
Spmip4 G T 6: 50,595,828 (GRCm38) T35K possibly damaging Het
Spon1 T A 7: 114,028,969 (GRCm38) M320K probably benign Het
Tceanc2 A T 4: 107,165,560 (GRCm38) S77T probably damaging Het
Thsd7a T A 6: 12,337,314 (GRCm38) T1235S possibly damaging Het
Thsd7a T A 6: 12,504,013 (GRCm38) I381F possibly damaging Het
Tmc4 T C 7: 3,671,271 (GRCm38) probably null Het
Tmprss11d T C 5: 86,309,401 (GRCm38) D133G probably damaging Het
Trav13n-3 T A 14: 53,337,496 (GRCm38) V65D probably damaging Het
Trpm1 G T 7: 64,203,034 (GRCm38) L65F probably damaging Het
Tyk2 C T 9: 21,114,207 (GRCm38) A741T probably damaging Het
Ube2v1 T A 2: 167,610,377 (GRCm38) Y102F probably damaging Het
Uckl1 A T 2: 181,574,868 (GRCm38) S95T possibly damaging Het
Vcan C A 13: 89,679,934 (GRCm38) W2171L probably damaging Het
Vinac1 T C 2: 129,038,230 (GRCm38) H592R probably benign Het
Vmn1r64 T C 7: 5,884,358 (GRCm38) N62S probably damaging Het
Vmn2r67 T C 7: 85,150,623 (GRCm38) D469G probably benign Het
Vps13b A G 15: 35,640,544 (GRCm38) S1352G probably benign Het
Zbtb38 C T 9: 96,688,383 (GRCm38) R216H probably damaging Het
Other mutations in Pde7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Pde7a APN 3 19,229,679 (GRCm38) unclassified probably benign
IGL02644:Pde7a APN 3 19,256,867 (GRCm38) splice site probably benign
IGL02968:Pde7a APN 3 19,243,121 (GRCm38) nonsense probably null
IGL02985:Pde7a APN 3 19,310,883 (GRCm38) missense probably damaging 1.00
R0081:Pde7a UTSW 3 19,241,533 (GRCm38) splice site probably benign
R0736:Pde7a UTSW 3 19,231,043 (GRCm38) missense probably damaging 1.00
R0834:Pde7a UTSW 3 19,230,318 (GRCm38) missense probably damaging 1.00
R1499:Pde7a UTSW 3 19,260,244 (GRCm38) missense possibly damaging 0.49
R1955:Pde7a UTSW 3 19,227,799 (GRCm38) missense probably damaging 0.99
R2943:Pde7a UTSW 3 19,230,325 (GRCm38) missense probably damaging 1.00
R4072:Pde7a UTSW 3 19,256,853 (GRCm38) missense probably damaging 1.00
R4366:Pde7a UTSW 3 19,310,862 (GRCm38) critical splice donor site probably null
R4524:Pde7a UTSW 3 19,230,976 (GRCm38) missense possibly damaging 0.93
R4698:Pde7a UTSW 3 19,310,931 (GRCm38) missense probably damaging 0.99
R4850:Pde7a UTSW 3 19,243,117 (GRCm38) missense probably benign
R4859:Pde7a UTSW 3 19,241,491 (GRCm38) intron probably benign
R5283:Pde7a UTSW 3 19,260,256 (GRCm38) missense probably damaging 1.00
R5646:Pde7a UTSW 3 19,233,773 (GRCm38) missense probably damaging 1.00
R5702:Pde7a UTSW 3 19,241,207 (GRCm38) nonsense probably null
R5756:Pde7a UTSW 3 19,264,845 (GRCm38) missense probably benign 0.08
R5784:Pde7a UTSW 3 19,264,845 (GRCm38) missense probably benign 0.08
R6301:Pde7a UTSW 3 19,243,163 (GRCm38) missense probably benign 0.01
R7136:Pde7a UTSW 3 19,231,094 (GRCm38) missense probably benign 0.36
R7291:Pde7a UTSW 3 19,227,674 (GRCm38) missense probably benign
R7685:Pde7a UTSW 3 19,227,745 (GRCm38) missense probably damaging 1.00
R8032:Pde7a UTSW 3 19,260,265 (GRCm38) missense possibly damaging 0.95
R8884:Pde7a UTSW 3 19,227,694 (GRCm38) missense probably benign
R9408:Pde7a UTSW 3 19,233,794 (GRCm38) missense possibly damaging 0.95
R9648:Pde7a UTSW 3 19,256,802 (GRCm38) missense probably damaging 1.00
R9716:Pde7a UTSW 3 19,231,003 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-08