Incidental Mutation 'R4072:Pde7a'
ID 316320
Institutional Source Beutler Lab
Gene Symbol Pde7a
Ensembl Gene ENSMUSG00000069094
Gene Name phosphodiesterase 7A
Synonyms
MMRRC Submission 040854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R4072 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 19277272-19365486 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19311017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 70 (R70C)
Ref Sequence ENSEMBL: ENSMUSP00000119685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091314] [ENSMUST00000099195] [ENSMUST00000121951] [ENSMUST00000149081] [ENSMUST00000156652]
AlphaFold P70453
Predicted Effect probably damaging
Transcript: ENSMUST00000091314
AA Change: R44C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088863
Gene: ENSMUSG00000069094
AA Change: R44C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
HDc 183 350 2.91e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099195
AA Change: R70C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
AA Change: R70C

DomainStartEndE-ValueType
low complexity region 21 37 N/A INTRINSIC
HDc 209 376 2.91e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121951
AA Change: R44C

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113173
Gene: ENSMUSG00000069094
AA Change: R44C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143120
Predicted Effect probably damaging
Transcript: ENSMUST00000149081
AA Change: R7C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000156652
AA Change: R70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119685
Gene: ENSMUSG00000069094
AA Change: R70C

DomainStartEndE-ValueType
low complexity region 21 37 N/A INTRINSIC
Meta Mutation Damage Score 0.5733 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (52/53)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,922,342 (GRCm39) probably null Het
Abcc5 A G 16: 20,152,445 (GRCm39) I1367T probably damaging Het
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Acss3 C T 10: 106,959,446 (GRCm39) probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Ankar G T 1: 72,727,751 (GRCm39) D169E probably damaging Het
Arfgap3 C T 15: 83,187,330 (GRCm39) A510T probably damaging Het
Atp4a T C 7: 30,414,757 (GRCm39) I182T probably benign Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Baz1a A G 12: 54,988,345 (GRCm39) I268T probably benign Het
Baz2b A T 2: 59,742,917 (GRCm39) probably null Het
C2cd4d C A 3: 94,271,185 (GRCm39) C150* probably null Het
Crtac1 T C 19: 42,293,146 (GRCm39) Y321C probably damaging Het
Dnah11 T C 12: 118,070,227 (GRCm39) H1526R probably damaging Het
Dnah5 A T 15: 28,340,444 (GRCm39) R2284* probably null Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Galntl5 A T 5: 25,403,478 (GRCm39) K150* probably null Het
Gm19965 A G 1: 116,748,801 (GRCm39) T161A probably benign Het
Hydin G A 8: 111,231,888 (GRCm39) E1617K possibly damaging Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Obscn A G 11: 58,888,009 (GRCm39) I7652T unknown Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Or8u8 T A 2: 86,011,991 (GRCm39) M155L probably benign Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pms2 T C 5: 143,865,819 (GRCm39) I742T probably damaging Het
Pot1a T C 6: 25,752,356 (GRCm39) probably null Het
Pramel33 A T 5: 93,633,057 (GRCm39) M50K probably damaging Het
Rp1l1 A T 14: 64,265,581 (GRCm39) E389V probably damaging Het
Scnn1a A G 6: 125,315,870 (GRCm39) N407S probably damaging Het
Slc30a7 T C 3: 115,740,329 (GRCm39) D374G probably damaging Het
Slco2a1 T A 9: 102,945,201 (GRCm39) I192N probably damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Tox T C 4: 6,842,396 (GRCm39) T45A probably damaging Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Vwc2 T A 11: 11,066,446 (GRCm39) L178Q probably damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Other mutations in Pde7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Pde7a APN 3 19,283,843 (GRCm39) unclassified probably benign
IGL02644:Pde7a APN 3 19,311,031 (GRCm39) splice site probably benign
IGL02968:Pde7a APN 3 19,297,285 (GRCm39) nonsense probably null
IGL02985:Pde7a APN 3 19,365,047 (GRCm39) missense probably damaging 1.00
R0081:Pde7a UTSW 3 19,295,697 (GRCm39) splice site probably benign
R0736:Pde7a UTSW 3 19,285,207 (GRCm39) missense probably damaging 1.00
R0834:Pde7a UTSW 3 19,284,482 (GRCm39) missense probably damaging 1.00
R1499:Pde7a UTSW 3 19,314,408 (GRCm39) missense possibly damaging 0.49
R1955:Pde7a UTSW 3 19,281,963 (GRCm39) missense probably damaging 0.99
R2943:Pde7a UTSW 3 19,284,489 (GRCm39) missense probably damaging 1.00
R4366:Pde7a UTSW 3 19,365,026 (GRCm39) critical splice donor site probably null
R4524:Pde7a UTSW 3 19,285,140 (GRCm39) missense possibly damaging 0.93
R4666:Pde7a UTSW 3 19,314,420 (GRCm39) missense probably damaging 1.00
R4698:Pde7a UTSW 3 19,365,095 (GRCm39) missense probably damaging 0.99
R4850:Pde7a UTSW 3 19,297,281 (GRCm39) missense probably benign
R4859:Pde7a UTSW 3 19,295,655 (GRCm39) intron probably benign
R5283:Pde7a UTSW 3 19,314,420 (GRCm39) missense probably damaging 1.00
R5646:Pde7a UTSW 3 19,287,937 (GRCm39) missense probably damaging 1.00
R5702:Pde7a UTSW 3 19,295,371 (GRCm39) nonsense probably null
R5756:Pde7a UTSW 3 19,319,009 (GRCm39) missense probably benign 0.08
R5784:Pde7a UTSW 3 19,319,009 (GRCm39) missense probably benign 0.08
R6301:Pde7a UTSW 3 19,297,327 (GRCm39) missense probably benign 0.01
R7136:Pde7a UTSW 3 19,285,258 (GRCm39) missense probably benign 0.36
R7291:Pde7a UTSW 3 19,281,838 (GRCm39) missense probably benign
R7685:Pde7a UTSW 3 19,281,909 (GRCm39) missense probably damaging 1.00
R8032:Pde7a UTSW 3 19,314,429 (GRCm39) missense possibly damaging 0.95
R8884:Pde7a UTSW 3 19,281,858 (GRCm39) missense probably benign
R9408:Pde7a UTSW 3 19,287,958 (GRCm39) missense possibly damaging 0.95
R9648:Pde7a UTSW 3 19,310,966 (GRCm39) missense probably damaging 1.00
R9716:Pde7a UTSW 3 19,285,167 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCCAAACAATAACACAGCATTTT -3'
(R):5'- GGCACTCTCATATATGTCACGT -3'

Sequencing Primer
(F):5'- CTGAGAAAACTAAATGCTAGAA -3'
(R):5'- CATATATGTCACGTATGTGTCGC -3'
Posted On 2015-05-15