Incidental Mutation 'IGL02985:Pde7a'
ID406695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde7a
Ensembl Gene ENSMUSG00000069094
Gene Namephosphodiesterase 7A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL02985
Quality Score
Status
Chromosome3
Chromosomal Location19223108-19311322 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19310883 bp
ZygosityHeterozygous
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]
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
4932438A13Rik T C 3: 36,958,757 L1862S probably damaging Het
Actc1 T C 2: 114,048,160 E318G probably damaging Het
Birc6 T C 17: 74,640,190 V2968A probably benign Het
Csgalnact1 A G 8: 68,461,043 V170A probably benign Het
Dph1 A G 11: 75,183,593 V131A possibly damaging Het
Galr1 A T 18: 82,393,730 M337K probably benign Het
Gm14214 G T 2: 154,769,454 T160N probably benign Het
Gpatch8 G T 11: 102,481,510 H401N unknown Het
Higd1a A G 9: 121,852,530 F20L probably benign Het
Hmcn1 A T 1: 150,671,917 I2761K probably damaging Het
Hspg2 T A 4: 137,507,803 Y83N probably damaging Het
Ilvbl C T 10: 78,579,067 P255S probably benign Het
Kpna2 T C 11: 106,989,337 Y495C probably benign Het
Krt36 G T 11: 100,103,179 Q327K probably benign Het
Lrrc34 T C 3: 30,636,295 M153V probably benign Het
Maats1 T A 16: 38,298,272 I722F probably damaging Het
Map9 A T 3: 82,359,902 R30* probably null Het
Mcf2l A G 8: 12,963,239 Y48C probably damaging Het
Mfsd13b T A 7: 121,000,172 I397K probably damaging Het
Mpp7 C A 18: 7,461,637 probably null Het
Mrgprx2 C T 7: 48,482,497 C191Y probably damaging Het
Olfr48 A T 2: 89,844,340 I211N possibly damaging Het
Pabpc4l A G 3: 46,446,582 V209A possibly damaging Het
Phactr3 T C 2: 178,175,457 V22A probably benign Het
Plcl2 G T 17: 50,687,814 E1104* probably null Het
Ppp2cb A G 8: 33,615,446 probably benign Het
Prl3c1 A T 13: 27,199,387 Y12F probably damaging Het
Prune2 T C 19: 17,016,359 probably null Het
Rfesd T C 13: 76,008,212 D25G probably damaging Het
Rxfp1 C A 3: 79,652,226 M429I possibly damaging Het
Tmf1 A G 6: 97,176,809 L101P probably damaging Het
Ube2d2b T C 5: 107,830,797 S105P probably damaging Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Zfp518a C T 19: 40,913,667 T680I possibly damaging Het
Other mutations in Pde7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Pde7a APN 3 19229679 unclassified probably benign
IGL02644:Pde7a APN 3 19256867 splice site probably benign
IGL02968:Pde7a APN 3 19243121 nonsense probably null
R0081:Pde7a UTSW 3 19241533 splice site probably benign
R0736:Pde7a UTSW 3 19231043 missense probably damaging 1.00
R0834:Pde7a UTSW 3 19230318 missense probably damaging 1.00
R1499:Pde7a UTSW 3 19260244 missense possibly damaging 0.49
R1955:Pde7a UTSW 3 19227799 missense probably damaging 0.99
R2943:Pde7a UTSW 3 19230325 missense probably damaging 1.00
R4072:Pde7a UTSW 3 19256853 missense probably damaging 1.00
R4366:Pde7a UTSW 3 19310862 critical splice donor site probably null
R4524:Pde7a UTSW 3 19230976 missense possibly damaging 0.93
R4666:Pde7a UTSW 3 19260256 missense probably damaging 1.00
R4698:Pde7a UTSW 3 19310931 missense probably damaging 0.99
R4850:Pde7a UTSW 3 19243117 missense probably benign
R4859:Pde7a UTSW 3 19241491 intron probably benign
R5283:Pde7a UTSW 3 19260256 missense probably damaging 1.00
R5646:Pde7a UTSW 3 19233773 missense probably damaging 1.00
R5702:Pde7a UTSW 3 19241207 nonsense probably null
R5756:Pde7a UTSW 3 19264845 missense probably benign 0.08
R5784:Pde7a UTSW 3 19264845 missense probably benign 0.08
R6301:Pde7a UTSW 3 19243163 missense probably benign 0.01
R7136:Pde7a UTSW 3 19231094 missense probably benign 0.36
R7291:Pde7a UTSW 3 19227674 missense probably benign
Posted On2016-08-02