Incidental Mutation 'IGL03142:Pde3a'
ID410714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde3a
Ensembl Gene ENSMUSG00000041741
Gene Namephosphodiesterase 3A, cGMP inhibited
SynonymsA930022O17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.227) question?
Stock #IGL03142
Quality Score
Status
Chromosome6
Chromosomal Location141249269-141507448 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 141492299 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1031 (D1031E)
Ref Sequence ENSEMBL: ENSMUSP00000038749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043259]
Predicted Effect probably benign
Transcript: ENSMUST00000043259
AA Change: D1031E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: D1031E

DomainStartEndE-ValueType
low complexity region 29 43 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 93 102 N/A INTRINSIC
low complexity region 103 121 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
transmembrane domain 155 177 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 230 252 N/A INTRINSIC
low complexity region 419 445 N/A INTRINSIC
low complexity region 520 544 N/A INTRINSIC
HDc 749 964 3.76e-4 SMART
low complexity region 1028 1056 N/A INTRINSIC
low complexity region 1114 1133 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.] This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display female infertility with oocyte arrest. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,947,198 S523G probably damaging Het
Ccnb1 A T 13: 100,783,531 D157E probably damaging Het
Cfap70 T C 14: 20,397,215 T1055A probably damaging Het
Fgfr1op T A 17: 8,192,209 S331R probably damaging Het
Fn1 C A 1: 71,637,296 R592L probably damaging Het
Frmpd4 T A X: 167,479,483 D550V possibly damaging Het
Gcm2 A G 13: 41,103,235 V346A probably benign Het
Gm10112 C T X: 111,168,350 T4I probably damaging Het
Gm3115 T C 14: 4,084,302 probably benign Het
Has2 A T 15: 56,682,095 I37N possibly damaging Het
Hmgn3 A G 9: 83,146,429 probably benign Het
Klhl29 T A 12: 5,137,603 N254Y probably damaging Het
Kti12 A G 4: 108,848,165 Y92C probably damaging Het
Mgat5 A C 1: 127,412,223 Q447P probably damaging Het
Mlh3 C A 12: 85,250,301 probably null Het
Mrpl45 T C 11: 97,315,925 W18R probably benign Het
Mtor A G 4: 148,453,899 D138G probably benign Het
Mycbp2 C T 14: 103,298,776 C246Y probably damaging Het
Mylk4 A T 13: 32,720,599 V415E probably damaging Het
Olfm3 A T 3: 115,097,030 Q124L probably damaging Het
Olfr1423 A T 19: 12,036,388 M118K probably damaging Het
Pam C T 1: 97,894,386 G298R probably damaging Het
Pappa2 A C 1: 158,854,931 I849R probably damaging Het
Pik3cb A T 9: 99,065,562 S521T probably benign Het
Pkn1 A G 8: 83,671,023 F824L possibly damaging Het
Pspn C T 17: 56,999,566 R121Q probably benign Het
Ric1 A G 19: 29,600,980 D1195G possibly damaging Het
Sin3b A G 8: 72,744,568 D381G probably damaging Het
Slc37a3 T C 6: 39,359,985 probably null Het
Smtn T A 11: 3,532,601 K124* probably null Het
Tbce A G 13: 14,019,864 V70A possibly damaging Het
Tmem251 G A 12: 102,744,674 S52N probably damaging Het
Tti1 A G 2: 158,000,677 Y811H probably damaging Het
Uggt2 T C 14: 118,998,191 Y1424C probably damaging Het
Upf1 A G 8: 70,333,327 V994A probably benign Het
Vmn2r121 T C X: 124,132,938 D174G possibly damaging Het
Other mutations in Pde3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Pde3a APN 6 141459738 missense probably damaging 1.00
IGL01400:Pde3a APN 6 141459228 missense probably benign 0.02
IGL01752:Pde3a APN 6 141487613 splice site probably benign
IGL01819:Pde3a APN 6 141487537 missense probably damaging 1.00
IGL02014:Pde3a APN 6 141459144 missense probably null 1.00
IGL02119:Pde3a APN 6 141459803 missense probably damaging 0.97
IGL02465:Pde3a APN 6 141249675 missense possibly damaging 0.53
IGL02677:Pde3a APN 6 141405172 splice site probably benign
IGL02961:Pde3a APN 6 141459700 nonsense probably null
IGL03034:Pde3a APN 6 141492400 splice site probably benign
PIT4305001:Pde3a UTSW 6 141492310 missense probably benign 0.04
R0412:Pde3a UTSW 6 141498684 missense probably damaging 1.00
R0517:Pde3a UTSW 6 141498657 nonsense probably null
R0573:Pde3a UTSW 6 141492231 missense probably damaging 1.00
R0621:Pde3a UTSW 6 141249999 missense probably damaging 1.00
R0781:Pde3a UTSW 6 141459316 splice site probably benign
R1065:Pde3a UTSW 6 141476732 splice site probably benign
R1110:Pde3a UTSW 6 141459316 splice site probably benign
R1462:Pde3a UTSW 6 141459834 missense probably benign 0.05
R1462:Pde3a UTSW 6 141459834 missense probably benign 0.05
R1470:Pde3a UTSW 6 141466206 missense probably benign 0.41
R1470:Pde3a UTSW 6 141466206 missense probably benign 0.41
R1480:Pde3a UTSW 6 141487574 missense probably benign 0.17
R1559:Pde3a UTSW 6 141459098 missense probably damaging 1.00
R1862:Pde3a UTSW 6 141250353 missense probably damaging 1.00
R1862:Pde3a UTSW 6 141487513 missense probably damaging 1.00
R1902:Pde3a UTSW 6 141498770 missense probably benign
R1909:Pde3a UTSW 6 141250239 missense probably benign 0.00
R2048:Pde3a UTSW 6 141489006 splice site probably benign
R2144:Pde3a UTSW 6 141490111 missense probably benign 0.40
R2155:Pde3a UTSW 6 141483914 missense possibly damaging 0.70
R2208:Pde3a UTSW 6 141250347 missense probably damaging 0.97
R2405:Pde3a UTSW 6 141481242 missense probably damaging 1.00
R4592:Pde3a UTSW 6 141459216 missense probably benign 0.13
R4677:Pde3a UTSW 6 141466139 missense probably benign 0.02
R4803:Pde3a UTSW 6 141459086 missense probably damaging 1.00
R4887:Pde3a UTSW 6 141470942 missense possibly damaging 0.94
R4999:Pde3a UTSW 6 141250025 missense probably benign 0.00
R5055:Pde3a UTSW 6 141487956 nonsense probably null
R5181:Pde3a UTSW 6 141481255 critical splice donor site probably null
R5640:Pde3a UTSW 6 141483915 missense probably damaging 0.99
R5694:Pde3a UTSW 6 141250502 missense possibly damaging 0.48
R6176:Pde3a UTSW 6 141498889 missense possibly damaging 0.96
R6394:Pde3a UTSW 6 141487511 missense probably damaging 1.00
R6692:Pde3a UTSW 6 141479346 missense probably damaging 1.00
R6968:Pde3a UTSW 6 141487932 missense probably damaging 1.00
R7137:Pde3a UTSW 6 141498746 missense probably benign 0.26
X0053:Pde3a UTSW 6 141483969 splice site probably null
X0062:Pde3a UTSW 6 141249984 missense probably damaging 1.00
Posted On2016-08-02