Incidental Mutation 'IGL02132:Pde9a'
ID 281035
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 # IGL02132
Quality Score
Status
Chromosome 17
Chromosomal Location 31605184-31695284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31672444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 34 (T34I)
Ref Sequence ENSEMBL: ENSMUSP00000116724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047168] [ENSMUST00000124902] [ENSMUST00000127929] [ENSMUST00000131417] [ENSMUST00000134525] [ENSMUST00000136384] [ENSMUST00000137927] [ENSMUST00000141314] [ENSMUST00000143549]
AlphaFold O70628
Predicted Effect probably benign
Transcript: ENSMUST00000047168
AA Change: T181I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: T181I

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: T181I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: T181I

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: T155I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: T155I

DomainStartEndE-ValueType
HDc 222 389 7.12e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136384
AA Change: T34I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116724
Gene: ENSMUSG00000041119
AA Change: T34I

DomainStartEndE-ValueType
PDB:3QI4|B 1 80 2e-50 PDB
SCOP:d1f0ja_ 28 80 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155395
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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,614,635 (GRCm39) probably benign Het
4930432E11Rik C T 7: 29,262,704 (GRCm39) noncoding transcript Het
Adcy10 T C 1: 165,400,112 (GRCm39) V1507A probably damaging Het
Ap3b2 T A 7: 81,110,746 (GRCm39) M1010L unknown Het
Bmp10 T C 6: 87,411,130 (GRCm39) S308P probably benign Het
Cnih3 C A 1: 181,282,274 (GRCm39) Y169* probably null Het
Cpsf4l A G 11: 113,590,685 (GRCm39) S222P possibly damaging Het
Cyp2d10 G A 15: 82,288,808 (GRCm39) probably benign Het
Dcstamp A T 15: 39,617,928 (GRCm39) E112D probably damaging Het
Fras1 C T 5: 96,929,496 (GRCm39) Q3967* probably null Het
Gcm1 C A 9: 77,972,121 (GRCm39) P354H possibly damaging Het
Gen1 A G 12: 11,291,867 (GRCm39) S706P probably benign Het
Glb1l3 G T 9: 26,736,466 (GRCm39) T532N probably benign Het
Gm5069 T A 1: 180,154,872 (GRCm39) probably benign Het
Gzmc A C 14: 56,471,422 (GRCm39) F40V probably benign Het
Itgb2 G T 10: 77,385,895 (GRCm39) C286F probably damaging Het
Jak3 A G 8: 72,131,124 (GRCm39) Y48C probably damaging Het
Lrp2 G A 2: 69,367,960 (GRCm39) S184L probably benign Het
Myo1f T A 17: 33,798,945 (GRCm39) N203K probably benign Het
Nrxn2 G A 19: 6,522,306 (GRCm39) G182R probably damaging Het
Or4k15c T C 14: 50,321,943 (GRCm39) N65S probably damaging Het
Or4p8 A G 2: 88,727,503 (GRCm39) V146A probably benign Het
Or5g23 A C 2: 85,438,664 (GRCm39) L197V probably benign Het
Otog C T 7: 45,954,903 (GRCm39) S2692L probably damaging Het
Phip T C 9: 82,763,394 (GRCm39) T1295A possibly damaging Het
Pik3cb A G 9: 98,953,430 (GRCm39) V451A probably benign Het
Psd2 T G 18: 36,137,809 (GRCm39) probably benign Het
Pycr2 T C 1: 180,733,762 (GRCm39) I118T probably damaging Het
Rnf17 T G 14: 56,658,623 (GRCm39) M104R probably benign Het
Rp1l1 T C 14: 64,266,259 (GRCm39) V615A probably benign Het
Sel1l3 T A 5: 53,327,747 (GRCm39) R511W possibly damaging Het
Sis T C 3: 72,854,804 (GRCm39) N478D probably benign Het
Trps1 T A 15: 50,685,674 (GRCm39) S584C probably damaging Het
Vmn2r124 T C 17: 18,284,491 (GRCm39) probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Zc3h13 T C 14: 75,567,787 (GRCm39) S1027P probably benign Het
Zfp644 A T 5: 106,783,760 (GRCm39) I929K probably benign 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
IGL02113:Pde9a APN 17 31,678,944 (GRCm39) missense probably benign 0.24
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