Incidental Mutation 'IGL03128:Pde9a'
ID410205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde9a
Ensembl Gene ENSMUSG00000041119
Gene Namephosphodiesterase 9A
SynonymsPDE9A1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.300) question?
Stock #IGL03128
Quality Score
Status
Chromosome17
Chromosomal Location31386234-31476310 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31459910 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 216 (H216Y)
Ref Sequence ENSEMBL: ENSMUSP00000121003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047168] [ENSMUST00000124902] [ENSMUST00000127929] [ENSMUST00000131417] [ENSMUST00000134525] [ENSMUST00000136384] [ENSMUST00000137927] [ENSMUST00000141314] [ENSMUST00000143549]
Predicted Effect probably benign
Transcript: ENSMUST00000047168
AA Change: H242Y

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: H242Y

DomainStartEndE-ValueType
HDc 248 415 7.12e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124902
SMART Domains Protein: ENSMUSP00000118869
Gene: ENSMUSG00000041119

DomainStartEndE-ValueType
PDB:3QI4|B 1 77 3e-47 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000127929
AA Change: H242Y

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: H242Y

DomainStartEndE-ValueType
HDc 248 415 7.12e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130547
Predicted Effect probably benign
Transcript: ENSMUST00000131417
SMART Domains Protein: ENSMUSP00000115188
Gene: ENSMUSG00000041119

DomainStartEndE-ValueType
PDB:3QI4|B 1 23 7e-9 PDB
low complexity region 32 43 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000134525
AA Change: H216Y

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: H216Y

DomainStartEndE-ValueType
HDc 222 389 7.12e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136384
SMART Domains Protein: ENSMUSP00000116724
Gene: ENSMUSG00000041119

DomainStartEndE-ValueType
PDB:3QI4|B 1 80 2e-50 PDB
SCOP:d1f0ja_ 28 80 2e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137927
Predicted Effect probably benign
Transcript: ENSMUST00000141314
SMART Domains Protein: ENSMUSP00000117364
Gene: ENSMUSG00000041119

DomainStartEndE-ValueType
PDB:3QI4|B 1 72 3e-45 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000143549
SMART Domains Protein: ENSMUSP00000117911
Gene: ENSMUSG00000041119

DomainStartEndE-ValueType
PDB:3QI4|B 1 23 5e-9 PDB
low complexity region 32 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154392
SMART Domains Protein: ENSMUSP00000117065
Gene: ENSMUSG00000041119

DomainStartEndE-ValueType
Pfam:PDEase_I 1 73 2.2e-20 PFAM
Pfam:PDEase_I 63 126 9.7e-15 PFAM
coiled coil region 128 158 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155395
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 catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit suppressed pressure-overload-induced cardiac pathobiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 A T 11: 116,182,003 L114M probably damaging Het
Bahcc1 G A 11: 120,268,434 probably benign Het
Btrc T A 19: 45,513,520 I226N probably damaging Het
Cth C T 3: 157,921,035 G56D probably damaging Het
Dkk2 T C 3: 132,177,860 probably benign Het
Dock3 A T 9: 107,032,292 M271K probably benign Het
Fam78b T A 1: 167,078,941 L223Q probably damaging Het
Fgl2 A T 5: 21,373,293 M193L probably benign Het
Ifi205 A T 1: 174,015,086 V348E probably damaging Het
Igkv4-70 T A 6: 69,268,014 K74N probably benign Het
Kdm3b A T 18: 34,827,427 K1355M probably damaging Het
Ltn1 A T 16: 87,415,944 N576K probably benign Het
Ms4a4c A T 19: 11,417,641 probably null Het
Nfic T C 10: 81,406,191 T328A probably benign Het
Npat T A 9: 53,550,033 probably benign Het
Nxpe2 T C 9: 48,319,498 I524V probably benign Het
Orc5 G T 5: 22,516,773 D360E probably damaging Het
Pappa2 C T 1: 158,936,484 E486K probably benign Het
Polr2k C A 15: 36,174,191 P31Q probably damaging Het
Prkdc G T 16: 15,700,744 probably benign Het
Raver1 A T 9: 21,080,742 L385Q probably damaging Het
Slc10a7 C A 8: 78,525,217 T80K probably damaging Het
Smg1 T C 7: 118,203,059 K272R probably benign Het
Supt20 A G 3: 54,708,287 I200V probably benign Het
Tbc1d9 A G 8: 83,166,085 N4S probably benign Het
Tor1aip1 A G 1: 156,007,035 S356P probably damaging Het
Trpm3 A G 19: 22,914,465 Y903C probably damaging Het
Vmn2r71 T G 7: 85,619,587 F333V probably damaging Het
Other mutations in Pde9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Pde9a APN 17 31443172 missense probably benign 0.03
IGL01372:Pde9a APN 17 31461711 missense probably benign 0.24
IGL01599:Pde9a APN 17 31414150 missense probably damaging 1.00
IGL02108:Pde9a APN 17 31461693 missense probably benign
IGL02113:Pde9a APN 17 31459970 missense probably benign 0.24
IGL02132:Pde9a APN 17 31453470 missense probably benign 0.15
IGL02320:Pde9a APN 17 31459085 missense probably damaging 1.00
IGL02371:Pde9a APN 17 31420285 missense possibly damaging 0.92
R0015:Pde9a UTSW 17 31386356 splice site probably null
R0281:Pde9a UTSW 17 31455106 missense probably damaging 0.98
R0584:Pde9a UTSW 17 31459977 missense probably damaging 1.00
R1464:Pde9a UTSW 17 31473162 missense probably benign 0.06
R1464:Pde9a UTSW 17 31473162 missense probably benign 0.06
R1853:Pde9a UTSW 17 31455120 missense probably damaging 1.00
R1855:Pde9a UTSW 17 31455120 missense probably damaging 1.00
R2134:Pde9a UTSW 17 31386310 missense probably damaging 1.00
R3732:Pde9a UTSW 17 31448427 missense possibly damaging 0.60
R4066:Pde9a UTSW 17 31443838 makesense probably null
R4841:Pde9a UTSW 17 31443161 splice site probably null
R4842:Pde9a UTSW 17 31443161 splice site probably null
R4978:Pde9a UTSW 17 31473223 missense probably benign 0.01
R6826:Pde9a UTSW 17 31466440 missense probably benign 0.02
R6860:Pde9a UTSW 17 31470724 missense probably damaging 1.00
R6912:Pde9a UTSW 17 31466412 missense possibly damaging 0.95
R6963:Pde9a UTSW 17 31443887 missense probably benign 0.00
R6965:Pde9a UTSW 17 31443887 missense probably benign 0.00
R7188:Pde9a UTSW 17 31459097 missense probably damaging 0.96
R7208:Pde9a UTSW 17 31420284 missense possibly damaging 0.46
Posted On2016-08-02