Incidental Mutation 'R7754:Pde3a'
ID 597440
Institutional Source Beutler Lab
Gene Symbol Pde3a
Ensembl Gene ENSMUSG00000041741
Gene Name phosphodiesterase 3A, cGMP inhibited
Synonyms A930022O17Rik
MMRRC Submission 045810-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R7754 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 141249269-141507448 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141459249 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 400 (E400V)
Ref Sequence ENSEMBL: ENSMUSP00000038749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043259]
AlphaFold Q9Z0X4
Predicted Effect probably benign
Transcript: ENSMUST00000043259
AA Change: E400V

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: E400V

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110051M20Rik A T 2: 91,304,843 (GRCm38) probably null Het
2410089E03Rik C A 15: 8,243,826 (GRCm38) Q2534K possibly damaging Het
4930553M12Rik A T 4: 88,868,259 (GRCm38) W41R unknown Het
Aatf G A 11: 84,511,509 (GRCm38) S117L possibly damaging Het
Abca12 C A 1: 71,302,887 (GRCm38) V972L probably benign Het
Abcb11 T A 2: 69,286,818 (GRCm38) R495S probably damaging Het
Acss2 T A 2: 155,561,166 (GRCm38) H621Q probably benign Het
Akap9 T C 5: 4,046,736 (GRCm38) L2537P probably benign Het
Apbb1 C T 7: 105,559,302 (GRCm38) A597T probably damaging Het
Cacna1d A T 14: 30,075,852 (GRCm38) I1448N probably damaging Het
Cacna1e C T 1: 154,413,117 (GRCm38) E1841K probably damaging Het
Ccdc162 G T 10: 41,587,375 (GRCm38) P1457Q probably damaging Het
Cep70 A G 9: 99,281,092 (GRCm38) K331E probably damaging Het
D430041D05Rik A T 2: 104,257,159 (GRCm38) Y491N probably benign Het
Dnah6 T C 6: 73,025,720 (GRCm38) I3898V probably benign Het
Drd2 A G 9: 49,404,977 (GRCm38) T346A probably benign Het
Efcab9 T C 11: 32,522,941 (GRCm38) T169A possibly damaging Het
Fam163a A T 1: 156,079,983 (GRCm38) I21N probably damaging Het
Fam171a2 C T 11: 102,438,563 (GRCm38) D457N probably benign Het
Fbn1 A T 2: 125,479,280 (GRCm38) probably null Het
Gpr37 A T 6: 25,689,050 (GRCm38) L16H probably damaging Het
Gtf3c2 T C 5: 31,172,831 (GRCm38) D265G probably benign Het
Idh1 G T 1: 65,159,490 (GRCm38) A407D probably benign Het
Ifna12 A G 4: 88,603,178 (GRCm38) M44T probably damaging Het
Il22ra1 A G 4: 135,734,250 (GRCm38) M109V probably benign Het
Jag2 A T 12: 112,915,469 (GRCm38) probably null Het
Lca5l T C 16: 96,159,561 (GRCm38) D572G unknown Het
Lcn11 G A 2: 25,777,818 (GRCm38) V73I probably benign Het
Lrba A G 3: 86,445,397 (GRCm38) T1951A probably damaging Het
Ltbp2 A G 12: 84,813,238 (GRCm38) probably null Het
Malrd1 G A 2: 15,797,799 (GRCm38) probably null Het
Morc2b C A 17: 33,137,244 (GRCm38) G518V probably benign Het
Muc5ac G C 7: 141,809,303 (GRCm38) G2117A unknown Het
Myo5b A T 18: 74,634,559 (GRCm38) T313S probably benign Het
Neto2 C A 8: 85,669,700 (GRCm38) L140F probably damaging Het
Nlgn1 C T 3: 25,434,303 (GRCm38) V623I probably damaging Het
Olfr364-ps1 A G 2: 37,146,846 (GRCm38) I211M possibly damaging Het
Olfr371 T A 8: 85,230,798 (GRCm38) M101K possibly damaging Het
Olfr384 C T 11: 73,603,506 (GRCm38) Q309* probably null Het
Olfr603 C A 7: 103,383,738 (GRCm38) W88L probably damaging Het
Olfr825 T G 10: 130,162,829 (GRCm38) T166P probably damaging Het
Optc A G 1: 133,906,992 (GRCm38) S15P possibly damaging Het
Otogl A G 10: 107,869,546 (GRCm38) V640A probably damaging Het
Pcdhgb2 T C 18: 37,689,970 (GRCm38) S5P probably benign Het
Pkhd1l1 A G 15: 44,586,408 (GRCm38) I3856V possibly damaging Het
Pld2 G A 11: 70,552,869 (GRCm38) probably null Het
Plxna4 G T 6: 32,152,872 (GRCm38) H1839N probably damaging Het
Ppp6r2 T C 15: 89,256,701 (GRCm38) V89A probably benign Het
Rapgef3 T C 15: 97,757,746 (GRCm38) D420G probably damaging Het
Rnf17 T A 14: 56,462,072 (GRCm38) probably null Het
Rps6ka2 T A 17: 7,277,449 (GRCm38) probably null Het
Rptn A T 3: 93,395,921 (GRCm38) D187V probably damaging Het
Rtn1 T C 12: 72,308,429 (GRCm38) K248E probably damaging Het
Rtn4rl1 A T 11: 75,265,045 (GRCm38) H101L probably benign Het
Sept3 A G 15: 82,290,773 (GRCm38) N305S probably benign Het
Serpina3f G T 12: 104,217,306 (GRCm38) K142N possibly damaging Het
Ssh1 C A 5: 113,966,234 (GRCm38) R116L probably benign Het
Taf4 G A 2: 179,932,029 (GRCm38) T682M probably damaging Het
Tlr6 T C 5: 64,954,350 (GRCm38) K405E possibly damaging Het
Trbv13-2 G A 6: 41,121,700 (GRCm38) A70T probably benign Het
Ttn A T 2: 76,825,505 (GRCm38) probably null Het
Ttn A T 2: 76,788,196 (GRCm38) I16248N probably damaging Het
Vldlr A T 19: 27,217,615 (GRCm38) M1L probably benign Het
Wscd1 A G 11: 71,784,365 (GRCm38) H366R probably damaging Het
Zbtb8a A G 4: 129,357,703 (GRCm38) probably null Het
Zfp827 T C 8: 79,190,329 (GRCm38) V511A Het
Other mutations in Pde3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Pde3a APN 6 141,459,738 (GRCm38) missense probably damaging 1.00
IGL01400:Pde3a APN 6 141,459,228 (GRCm38) missense probably benign 0.02
IGL01752:Pde3a APN 6 141,487,613 (GRCm38) splice site probably benign
IGL01819:Pde3a APN 6 141,487,537 (GRCm38) missense probably damaging 1.00
IGL02014:Pde3a APN 6 141,459,144 (GRCm38) missense probably null 1.00
IGL02119:Pde3a APN 6 141,459,803 (GRCm38) missense probably damaging 0.97
IGL02465:Pde3a APN 6 141,249,675 (GRCm38) missense possibly damaging 0.53
IGL02677:Pde3a APN 6 141,405,172 (GRCm38) splice site probably benign
IGL02961:Pde3a APN 6 141,459,700 (GRCm38) nonsense probably null
IGL03034:Pde3a APN 6 141,492,400 (GRCm38) splice site probably benign
IGL03142:Pde3a APN 6 141,492,299 (GRCm38) missense probably benign 0.01
PIT4305001:Pde3a UTSW 6 141,492,310 (GRCm38) missense probably benign 0.04
R0412:Pde3a UTSW 6 141,498,684 (GRCm38) missense probably damaging 1.00
R0517:Pde3a UTSW 6 141,498,657 (GRCm38) nonsense probably null
R0573:Pde3a UTSW 6 141,492,231 (GRCm38) missense probably damaging 1.00
R0621:Pde3a UTSW 6 141,249,999 (GRCm38) missense probably damaging 1.00
R0781:Pde3a UTSW 6 141,459,316 (GRCm38) splice site probably benign
R1065:Pde3a UTSW 6 141,476,732 (GRCm38) splice site probably benign
R1110:Pde3a UTSW 6 141,459,316 (GRCm38) splice site probably benign
R1462:Pde3a UTSW 6 141,459,834 (GRCm38) missense probably benign 0.05
R1462:Pde3a UTSW 6 141,459,834 (GRCm38) missense probably benign 0.05
R1470:Pde3a UTSW 6 141,466,206 (GRCm38) missense probably benign 0.41
R1470:Pde3a UTSW 6 141,466,206 (GRCm38) missense probably benign 0.41
R1480:Pde3a UTSW 6 141,487,574 (GRCm38) missense probably benign 0.17
R1559:Pde3a UTSW 6 141,459,098 (GRCm38) missense probably damaging 1.00
R1862:Pde3a UTSW 6 141,487,513 (GRCm38) missense probably damaging 1.00
R1862:Pde3a UTSW 6 141,250,353 (GRCm38) missense probably damaging 1.00
R1902:Pde3a UTSW 6 141,498,770 (GRCm38) missense probably benign
R1909:Pde3a UTSW 6 141,250,239 (GRCm38) missense probably benign 0.00
R2048:Pde3a UTSW 6 141,489,006 (GRCm38) splice site probably benign
R2144:Pde3a UTSW 6 141,490,111 (GRCm38) missense probably benign 0.40
R2155:Pde3a UTSW 6 141,483,914 (GRCm38) missense possibly damaging 0.70
R2208:Pde3a UTSW 6 141,250,347 (GRCm38) missense probably damaging 0.97
R2405:Pde3a UTSW 6 141,481,242 (GRCm38) missense probably damaging 1.00
R4592:Pde3a UTSW 6 141,459,216 (GRCm38) missense probably benign 0.13
R4677:Pde3a UTSW 6 141,466,139 (GRCm38) missense probably benign 0.02
R4803:Pde3a UTSW 6 141,459,086 (GRCm38) missense probably damaging 1.00
R4887:Pde3a UTSW 6 141,470,942 (GRCm38) missense possibly damaging 0.94
R4999:Pde3a UTSW 6 141,250,025 (GRCm38) missense probably benign 0.00
R5055:Pde3a UTSW 6 141,487,956 (GRCm38) nonsense probably null
R5181:Pde3a UTSW 6 141,481,255 (GRCm38) critical splice donor site probably null
R5640:Pde3a UTSW 6 141,483,915 (GRCm38) missense probably damaging 0.99
R5694:Pde3a UTSW 6 141,250,502 (GRCm38) missense possibly damaging 0.48
R6176:Pde3a UTSW 6 141,498,889 (GRCm38) missense possibly damaging 0.96
R6394:Pde3a UTSW 6 141,487,511 (GRCm38) missense probably damaging 1.00
R6692:Pde3a UTSW 6 141,479,346 (GRCm38) missense probably damaging 1.00
R6968:Pde3a UTSW 6 141,487,932 (GRCm38) missense probably damaging 1.00
R7137:Pde3a UTSW 6 141,498,746 (GRCm38) missense probably benign 0.26
R7163:Pde3a UTSW 6 141,487,544 (GRCm38) missense probably damaging 1.00
R7677:Pde3a UTSW 6 141,250,257 (GRCm38) missense probably damaging 1.00
R8037:Pde3a UTSW 6 141,483,924 (GRCm38) missense possibly damaging 0.82
R8123:Pde3a UTSW 6 141,466,191 (GRCm38) missense probably benign 0.00
R8206:Pde3a UTSW 6 141,487,885 (GRCm38) missense probably damaging 1.00
R8262:Pde3a UTSW 6 141,487,801 (GRCm38) missense possibly damaging 0.89
R8376:Pde3a UTSW 6 141,481,221 (GRCm38) missense possibly damaging 0.50
R8893:Pde3a UTSW 6 141,459,796 (GRCm38) missense probably damaging 1.00
R9037:Pde3a UTSW 6 141,471,106 (GRCm38) missense probably damaging 1.00
R9158:Pde3a UTSW 6 141,249,888 (GRCm38) missense probably benign
R9222:Pde3a UTSW 6 141,492,178 (GRCm38) missense probably damaging 1.00
R9318:Pde3a UTSW 6 141,479,476 (GRCm38) missense probably benign 0.01
R9385:Pde3a UTSW 6 141,492,256 (GRCm38) missense probably benign 0.30
X0053:Pde3a UTSW 6 141,483,969 (GRCm38) splice site probably null
X0062:Pde3a UTSW 6 141,249,984 (GRCm38) missense probably damaging 1.00
Z1177:Pde3a UTSW 6 141,250,469 (GRCm38) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- CCAGCATCACTGTGGATATTGC -3'
(R):5'- TATCCCGGAACACTGAAAGAG -3'

Sequencing Primer
(F):5'- ATCACTGTGGATATTGCTGTGATG -3'
(R):5'- GGTAACAGTAAGCCATGTCTACTGTC -3'
Posted On 2019-11-26