Incidental Mutation 'IGL02113:Pde9a'
ID 280229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde9a
Ensembl Gene ENSMUSG00000041119
Gene Name phosphodiesterase 9A
Synonyms PDE9A1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # IGL02113
Quality Score
Status
Chromosome 17
Chromosomal Location 31605184-31695284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31678944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 262 (M262L)
Ref Sequence ENSEMBL: ENSMUSP00000117611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047168] [ENSMUST00000124902] [ENSMUST00000127929] [ENSMUST00000131417] [ENSMUST00000134525] [ENSMUST00000137927] [ENSMUST00000143549] [ENSMUST00000136384] [ENSMUST00000141314]
AlphaFold O70628
Predicted Effect probably benign
Transcript: ENSMUST00000047168
AA Change: M262L

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: M262L

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: M262L

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: M262L

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 probably benign
Transcript: ENSMUST00000134525
AA Change: M236L

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: M236L

DomainStartEndE-ValueType
HDc 222 389 7.12e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155395
Predicted Effect probably benign
Transcript: ENSMUST00000137927
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: 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: 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 probably benign
Transcript: ENSMUST00000141314
SMART Domains Protein: ENSMUSP00000117364
Gene: ENSMUSG00000041119

DomainStartEndE-ValueType
PDB:3QI4|B 1 72 3e-45 PDB
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,904,127 (GRCm39) H726L possibly damaging Het
Aqr A T 2: 113,950,508 (GRCm39) Y900* probably null Het
Atp11a G T 8: 12,915,048 (GRCm39) R1155S probably benign Het
Bahd1 A G 2: 118,747,686 (GRCm39) D435G probably benign Het
Brca2 A G 5: 150,464,444 (GRCm39) T1403A possibly damaging Het
Cc2d2a T A 5: 43,842,590 (GRCm39) probably null Het
Cog7 A G 7: 121,524,703 (GRCm39) I697T probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dgki A G 6: 36,890,560 (GRCm39) probably benign Het
Dpyd A G 3: 118,792,868 (GRCm39) Y525C probably benign Het
Eepd1 T C 9: 25,394,009 (GRCm39) L91P probably damaging Het
Foxf1 T A 8: 121,811,304 (GRCm39) L56H probably damaging Het
Fry A T 5: 150,323,070 (GRCm39) M1074L probably benign Het
Gbx1 T C 5: 24,709,874 (GRCm39) T324A probably damaging Het
Gfpt1 T A 6: 87,064,349 (GRCm39) N646K probably benign Het
Gm10258 C T 3: 30,322,542 (GRCm39) probably benign Het
Gm12887 T C 4: 121,473,692 (GRCm39) M53V probably benign Het
Hoxa11 C T 6: 52,222,297 (GRCm39) G135S probably damaging Het
Mettl6 A T 14: 31,204,788 (GRCm39) Y211* probably null Het
Moxd2 T C 6: 40,862,338 (GRCm39) I160M probably benign Het
Mphosph10 G A 7: 64,026,555 (GRCm39) probably benign Het
Mrpl19 T A 6: 81,942,896 (GRCm39) M5L probably benign Het
Nbea A G 3: 55,899,913 (GRCm39) V1412A probably benign Het
Nceh1 G T 3: 27,277,040 (GRCm39) S121I probably damaging Het
Ntan1 A G 16: 13,653,008 (GRCm39) T217A probably damaging Het
Ogfod1 C T 8: 94,790,841 (GRCm39) A504V probably damaging Het
Or52r1c A T 7: 102,735,057 (GRCm39) I111L possibly damaging Het
Pde3b G A 7: 114,126,141 (GRCm39) V792M probably damaging Het
Pi4ka A G 16: 17,191,279 (GRCm39) V206A probably benign Het
Pkp1 A T 1: 135,811,652 (GRCm39) N406K possibly damaging Het
Rcn3 A G 7: 44,732,762 (GRCm39) I302T probably damaging Het
Rfx6 A G 10: 51,554,108 (GRCm39) Q68R probably benign Het
Rpgrip1 A G 14: 52,371,301 (GRCm39) D340G possibly damaging Het
Scn10a C T 9: 119,438,956 (GRCm39) G1638S probably damaging Het
Serpinb9f A T 13: 33,518,451 (GRCm39) H317L probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc40a1 A G 1: 45,950,054 (GRCm39) I466T probably benign Het
Smyd2 A T 1: 189,614,414 (GRCm39) S371R probably damaging Het
Snap47 A C 11: 59,319,262 (GRCm39) I292S probably damaging Het
Tbx4 A G 11: 85,803,090 (GRCm39) E322G possibly damaging Het
Tg A G 15: 66,577,179 (GRCm39) T1501A probably benign Het
Tmem259 A G 10: 79,814,543 (GRCm39) V300A probably benign Het
Usp7 A G 16: 8,534,377 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,477,937 (GRCm39) T158K probably damaging Het
Vmn2r95 G T 17: 18,660,169 (GRCm39) A194S possibly damaging Het
Zfp944 A T 17: 22,558,047 (GRCm39) I400N possibly damaging Het
Zmynd12 T A 4: 119,291,194 (GRCm39) I53K probably damaging Het
Other mutations in Pde9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Pde9a APN 17 31,662,146 (GRCm39) missense probably benign 0.03
IGL01372:Pde9a APN 17 31,680,685 (GRCm39) missense probably benign 0.24
IGL01599:Pde9a APN 17 31,633,124 (GRCm39) missense probably damaging 1.00
IGL02108:Pde9a APN 17 31,680,667 (GRCm39) missense probably benign
IGL02132:Pde9a APN 17 31,672,444 (GRCm39) missense probably benign 0.15
IGL02320:Pde9a APN 17 31,678,059 (GRCm39) missense probably damaging 1.00
IGL02371:Pde9a APN 17 31,639,259 (GRCm39) missense possibly damaging 0.92
IGL03128:Pde9a APN 17 31,678,884 (GRCm39) missense possibly damaging 0.74
R0015:Pde9a UTSW 17 31,605,330 (GRCm39) splice site probably null
R0281:Pde9a UTSW 17 31,674,080 (GRCm39) missense probably damaging 0.98
R0584:Pde9a UTSW 17 31,678,951 (GRCm39) missense probably damaging 1.00
R1464:Pde9a UTSW 17 31,692,136 (GRCm39) missense probably benign 0.06
R1464:Pde9a UTSW 17 31,692,136 (GRCm39) missense probably benign 0.06
R1853:Pde9a UTSW 17 31,674,094 (GRCm39) missense probably damaging 1.00
R1855:Pde9a UTSW 17 31,674,094 (GRCm39) missense probably damaging 1.00
R2134:Pde9a UTSW 17 31,605,284 (GRCm39) missense probably damaging 1.00
R3732:Pde9a UTSW 17 31,667,401 (GRCm39) missense possibly damaging 0.60
R4066:Pde9a UTSW 17 31,662,812 (GRCm39) makesense probably null
R4841:Pde9a UTSW 17 31,662,135 (GRCm39) splice site probably null
R4842:Pde9a UTSW 17 31,662,135 (GRCm39) splice site probably null
R4978:Pde9a UTSW 17 31,692,197 (GRCm39) missense probably benign 0.01
R6826:Pde9a UTSW 17 31,685,414 (GRCm39) missense probably benign 0.02
R6860:Pde9a UTSW 17 31,689,698 (GRCm39) missense probably damaging 1.00
R6912:Pde9a UTSW 17 31,685,386 (GRCm39) missense possibly damaging 0.95
R6963:Pde9a UTSW 17 31,662,861 (GRCm39) missense probably benign 0.00
R6965:Pde9a UTSW 17 31,662,861 (GRCm39) missense probably benign 0.00
R7188:Pde9a UTSW 17 31,678,071 (GRCm39) missense probably damaging 0.96
R7208:Pde9a UTSW 17 31,639,258 (GRCm39) missense possibly damaging 0.46
R7429:Pde9a UTSW 17 31,689,680 (GRCm39) missense probably damaging 1.00
R7819:Pde9a UTSW 17 31,679,174 (GRCm39) missense possibly damaging 0.67
R7896:Pde9a UTSW 17 31,678,941 (GRCm39) nonsense probably null
R8306:Pde9a UTSW 17 31,692,186 (GRCm39) missense probably benign
R9260:Pde9a UTSW 17 31,678,137 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16