Incidental Mutation 'IGL02108:Pde9a'
ID280025
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: 0.412) question?
Stock #IGL02108
Quality Score
Status
Chromosome17
Chromosomal Location31386234-31476310 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 31461693 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 316 (S316N)
Ref Sequence ENSEMBL: ENSMUSP00000121003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047168] [ENSMUST00000124902] [ENSMUST00000127929] [ENSMUST00000131417] [ENSMUST00000134525] [ENSMUST00000136384] [ENSMUST00000137927] [ENSMUST00000143549]
Predicted Effect probably benign
Transcript: ENSMUST00000047168
AA Change: S342N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: S342N

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: S342N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: S342N

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: S316N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: S316N

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: 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 unknown
Transcript: ENSMUST00000154392
AA Change: S22N
SMART Domains Protein: ENSMUSP00000117065
Gene: ENSMUSG00000041119
AA Change: S22N

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccdc190 A G 1: 169,933,986 D219G probably damaging Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P 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
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
IGL03128:Pde9a APN 17 31459910 missense possibly damaging 0.74
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
R7429:Pde9a UTSW 17 31470706 missense probably damaging 1.00
R7819:Pde9a UTSW 17 31460200 missense possibly damaging 0.67
R7896:Pde9a UTSW 17 31459967 nonsense probably null
R7979:Pde9a UTSW 17 31459967 nonsense probably null
Posted On2015-04-16