Incidental Mutation 'IGL01599:Pde9a'
ID 92020
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 # IGL01599
Quality Score
Status
Chromosome 17
Chromosomal Location 31605184-31695284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31633124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 38 (C38F)
Ref Sequence ENSEMBL: ENSMUSP00000117364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047168] [ENSMUST00000124902] [ENSMUST00000127929] [ENSMUST00000131417] [ENSMUST00000134525] [ENSMUST00000137927] [ENSMUST00000141314] [ENSMUST00000143549]
AlphaFold O70628
Predicted Effect probably damaging
Transcript: ENSMUST00000047168
AA Change: C40F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: C40F

DomainStartEndE-ValueType
HDc 248 415 7.12e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000124902
AA Change: C40F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118869
Gene: ENSMUSG00000041119
AA Change: C40F

DomainStartEndE-ValueType
PDB:3QI4|B 1 77 3e-47 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000127929
AA Change: C40F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: C40F

DomainStartEndE-ValueType
HDc 248 415 7.12e-5 SMART
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 damaging
Transcript: ENSMUST00000134525
AA Change: C40F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: C40F

DomainStartEndE-ValueType
HDc 222 389 7.12e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137927
Predicted Effect probably damaging
Transcript: ENSMUST00000141314
AA Change: C38F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117364
Gene: ENSMUSG00000041119
AA Change: C38F

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 noncoding transcript
Transcript: ENSMUST00000154567
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,141,856 (GRCm39) V105A probably benign Het
Acr T C 15: 89,452,617 (GRCm39) V18A probably benign Het
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Aldh16a1 A G 7: 44,791,517 (GRCm39) F753L probably damaging Het
Ankfy1 T A 11: 72,629,191 (GRCm39) Y338N probably benign Het
Aox3 C T 1: 58,208,953 (GRCm39) R829C probably damaging Het
Arhgef11 T C 3: 87,644,353 (GRCm39) S1535P probably benign Het
C4b A G 17: 34,961,993 (GRCm39) probably benign Het
Ccdc157 A G 11: 4,098,781 (GRCm39) C242R probably damaging Het
Cep135 T A 5: 76,741,194 (GRCm39) M90K possibly damaging Het
Cfap36 A T 11: 29,194,057 (GRCm39) probably null Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Copb2 T C 9: 98,463,203 (GRCm39) S473P probably damaging Het
Cpb1 C T 3: 20,306,118 (GRCm39) probably null Het
Cpsf1 A G 15: 76,480,741 (GRCm39) L1295P probably damaging Het
Dmp1 C T 5: 104,360,328 (GRCm39) Q335* probably null Het
Dyrk1a T A 16: 94,492,743 (GRCm39) S621T possibly damaging Het
Exoc5 T A 14: 49,272,421 (GRCm39) Q331L probably benign Het
Fmnl1 G A 11: 103,077,482 (GRCm39) V287M probably damaging Het
Fras1 T C 5: 96,857,750 (GRCm39) S2015P possibly damaging Het
Gm7052 T C 17: 22,258,985 (GRCm39) probably benign Het
Gprc5c A G 11: 114,755,078 (GRCm39) I252V probably benign Het
Ints3 C T 3: 90,301,629 (GRCm39) probably null Het
L1td1 A G 4: 98,625,581 (GRCm39) D592G probably damaging Het
Lamb3 A G 1: 193,025,720 (GRCm39) M1137V probably benign Het
Leng8 C A 7: 4,148,481 (GRCm39) A751E probably benign Het
Lfng T C 5: 140,598,290 (GRCm39) V204A probably damaging Het
Lsm14b A G 2: 179,674,396 (GRCm39) D233G probably damaging Het
Map4 C T 9: 109,863,836 (GRCm39) P354S probably benign Het
Mapt G A 11: 104,185,741 (GRCm39) V53M probably damaging Het
Mier1 T G 4: 103,012,738 (GRCm39) S377A possibly damaging Het
Neurog1 T C 13: 56,399,660 (GRCm39) D29G probably damaging Het
Npr3 G A 15: 11,895,875 (GRCm39) A257V probably damaging Het
Nup188 T C 2: 30,217,537 (GRCm39) V824A possibly damaging Het
Olfm4 T C 14: 80,258,750 (GRCm39) S333P probably damaging Het
Or7g30 T G 9: 19,353,111 (GRCm39) F301V probably benign Het
Or9a4 A C 6: 40,549,186 (GRCm39) I289L probably damaging Het
Pbxip1 C A 3: 89,350,897 (GRCm39) probably benign Het
Plb1 A T 5: 32,499,888 (GRCm39) probably benign Het
Plcz1 T C 6: 139,947,982 (GRCm39) probably benign Het
Plxnb1 T C 9: 108,939,672 (GRCm39) V1447A probably damaging Het
Pnldc1 A T 17: 13,125,415 (GRCm39) M73K probably benign Het
Psg20 C T 7: 18,414,963 (GRCm39) V311M possibly damaging Het
Psmd2 G T 16: 20,478,155 (GRCm39) probably null Het
Rabgap1 T C 2: 37,446,281 (GRCm39) V859A probably damaging Het
Rad51b T A 12: 79,374,002 (GRCm39) S194T probably benign Het
Rb1cc1 C T 1: 6,318,995 (GRCm39) Q788* probably null Het
Ror2 C T 13: 53,265,653 (GRCm39) G468R probably damaging Het
Slamf7 A G 1: 171,468,754 (GRCm39) I46T possibly damaging Het
Stab2 A G 10: 86,758,759 (GRCm39) S1060P probably damaging Het
Syndig1 T A 2: 149,845,203 (GRCm39) V242E probably damaging Het
Tgfbr3 G A 5: 107,266,317 (GRCm39) T801M probably damaging Het
Tmem132c T C 5: 127,436,616 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,188 (GRCm39) Y103H probably damaging Het
Tut4 T C 4: 108,370,596 (GRCm39) S871P possibly damaging Het
Ubr3 T C 2: 69,768,522 (GRCm39) V443A probably damaging Het
Uhrf2 G T 19: 30,069,520 (GRCm39) C749F probably damaging Het
Ulk2 G T 11: 61,682,262 (GRCm39) S751* probably null Het
Wrn G A 8: 33,731,039 (GRCm39) P1098S possibly damaging Het
Xrcc5 T C 1: 72,385,508 (GRCm39) V533A possibly damaging Het
Zc3h13 T C 14: 75,547,163 (GRCm39) S223P 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
IGL02108:Pde9a APN 17 31,680,667 (GRCm39) missense probably benign
IGL02113:Pde9a APN 17 31,678,944 (GRCm39) missense probably benign 0.24
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 2013-12-09