Incidental Mutation 'IGL02985:Pde7a'
ID 406695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde7a
Ensembl Gene ENSMUSG00000069094
Gene Name phosphodiesterase 7A
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # IGL02985
Quality Score
Status
Chromosome 3
Chromosomal Location 19277272-19365486 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19365047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 40 (H40L)
Ref Sequence ENSEMBL: ENSMUSP00000096800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099195] [ENSMUST00000156652]
AlphaFold P70453
Predicted Effect probably damaging
Transcript: ENSMUST00000099195
AA Change: H40L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
AA Change: H40L

DomainStartEndE-ValueType
low complexity region 21 37 N/A INTRINSIC
HDc 209 376 2.91e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143120
Predicted Effect probably benign
Transcript: ENSMUST00000156652
AA Change: H40L

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119685
Gene: ENSMUSG00000069094
AA Change: H40L

DomainStartEndE-ValueType
low complexity region 21 37 N/A INTRINSIC
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 T C 2: 113,878,641 (GRCm39) E318G probably damaging Het
Birc6 T C 17: 74,947,185 (GRCm39) V2968A probably benign Het
Bltp1 T C 3: 37,012,906 (GRCm39) L1862S probably damaging Het
Cfap91 T A 16: 38,118,634 (GRCm39) I722F probably damaging Het
Csgalnact1 A G 8: 68,913,695 (GRCm39) V170A probably benign Het
Dnaaf10 G A 11: 17,179,845 (GRCm39) G282E probably damaging Het
Dph1 A G 11: 75,074,419 (GRCm39) V131A possibly damaging Het
Galr1 A T 18: 82,411,855 (GRCm39) M337K probably benign Het
Gm14214 G T 2: 154,611,374 (GRCm39) T160N probably benign Het
Gpatch8 G T 11: 102,372,336 (GRCm39) H401N unknown Het
Higd1a A G 9: 121,681,596 (GRCm39) F20L probably benign Het
Hmcn1 A T 1: 150,547,668 (GRCm39) I2761K probably damaging Het
Hspg2 T A 4: 137,235,114 (GRCm39) Y83N probably damaging Het
Ilvbl C T 10: 78,414,901 (GRCm39) P255S probably benign Het
Kpna2 T C 11: 106,880,163 (GRCm39) Y495C probably benign Het
Krt36 G T 11: 99,994,005 (GRCm39) Q327K probably benign Het
Lrrc34 T C 3: 30,690,444 (GRCm39) M153V probably benign Het
Map9 A T 3: 82,267,209 (GRCm39) R30* probably null Het
Mcf2l A G 8: 13,013,239 (GRCm39) Y48C probably damaging Het
Mfsd13b T A 7: 120,599,395 (GRCm39) I397K probably damaging Het
Mpp7 C A 18: 7,461,637 (GRCm39) probably null Het
Mrgprx2 C T 7: 48,132,245 (GRCm39) C191Y probably damaging Het
Or4c58 A T 2: 89,674,684 (GRCm39) I211N possibly damaging Het
Pabpc4l A G 3: 46,401,017 (GRCm39) V209A possibly damaging Het
Phactr3 T C 2: 177,817,250 (GRCm39) V22A probably benign Het
Plcl2 G T 17: 50,994,842 (GRCm39) E1104* probably null Het
Ppp2cb A G 8: 34,105,474 (GRCm39) probably benign Het
Prl3c1 A T 13: 27,383,370 (GRCm39) Y12F probably damaging Het
Prune2 T C 19: 16,993,723 (GRCm39) probably null Het
Rfesd T C 13: 76,156,331 (GRCm39) D25G probably damaging Het
Rxfp1 C A 3: 79,559,533 (GRCm39) M429I possibly damaging Het
Tmf1 A G 6: 97,153,770 (GRCm39) L101P probably damaging Het
Ube2d2b T C 5: 107,978,663 (GRCm39) S105P probably damaging Het
Zfp518a C T 19: 40,902,111 (GRCm39) T680I 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
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
R4072:Pde7a UTSW 3 19,311,017 (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
Posted On 2016-08-02