Incidental Mutation 'R6963:Pde9a'
ID 543343
Institutional Source Beutler Lab
Gene Symbol Pde9a
Ensembl Gene ENSMUSG00000041119
Gene Name phosphodiesterase 9A
Synonyms PDE9A1
MMRRC Submission 045073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R6963 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 31605184-31695284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31662861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 97 (V97L)
Ref Sequence ENSEMBL: ENSMUSP00000121003 (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: V123L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: V123L

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: V123L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: V123L

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 benign
Transcript: ENSMUST00000134525
AA Change: V97L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: V97L

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: 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,044,303 (GRCm39) H196Y probably damaging Het
Abi3 G A 11: 95,723,567 (GRCm39) probably benign Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Asgr1 T C 11: 69,946,794 (GRCm39) probably null Het
Atp2c2 C T 8: 120,457,006 (GRCm39) R203* probably null Het
Brms1 T A 19: 5,096,681 (GRCm39) I121N probably damaging Het
Ccdc149 G A 5: 52,596,439 (GRCm39) R58W probably damaging Het
D630003M21Rik T C 2: 158,042,228 (GRCm39) E906G probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fry A G 5: 150,381,309 (GRCm39) T444A probably benign Het
Ggn A G 7: 28,871,007 (GRCm39) E142G probably damaging Het
Gm5150 A G 3: 16,060,555 (GRCm39) probably benign Het
Gm57858 A G 3: 36,104,811 (GRCm39) Y17H probably benign Het
Gp2 A G 7: 119,052,120 (GRCm39) V198A probably benign Het
Gstm3 A G 3: 107,874,940 (GRCm39) V104A probably benign Het
Idua A G 5: 108,827,641 (GRCm39) K152E possibly damaging Het
Igsf21 A G 4: 139,755,041 (GRCm39) S443P probably benign Het
Kdm5d C A Y: 937,975 (GRCm39) Q925K probably benign Het
Ly6k G C 15: 74,670,431 (GRCm39) P37R probably damaging Het
Mcm9 A G 10: 53,424,713 (GRCm39) S626P probably damaging Het
Mcoln2 A G 3: 145,877,790 (GRCm39) K137R probably damaging Het
Mctp2 T C 7: 71,877,804 (GRCm39) N298S probably damaging Het
Myo10 T C 15: 25,734,149 (GRCm39) I379T probably benign Het
Myo15b G T 11: 115,781,540 (GRCm39) probably null Het
Nrg1 A G 8: 32,407,690 (GRCm39) F181S probably benign Het
Or5b24 C T 19: 12,913,002 (GRCm39) A300V probably damaging Het
Pals2 T C 6: 50,140,635 (GRCm39) probably null Het
Rfc5 T A 5: 117,525,931 (GRCm39) probably null Het
Rnf145 T C 11: 44,455,104 (GRCm39) S662P probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scfd2 A G 5: 74,642,870 (GRCm39) V359A probably damaging Het
Skp2 T C 15: 9,139,515 (GRCm39) probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tekt2 T C 4: 126,218,110 (GRCm39) E134G probably damaging Het
Ttll4 T A 1: 74,720,975 (GRCm39) I547K probably damaging Het
Vmn1r4 T C 6: 56,933,769 (GRCm39) I91T probably damaging Het
Vmn2r93 T C 17: 18,536,849 (GRCm39) S511P probably damaging Het
Vps50 T C 6: 3,592,577 (GRCm39) probably null Het
Zeb2 T G 2: 44,878,811 (GRCm39) E1141A probably damaging Het
Zfp1002 A G 2: 150,097,265 (GRCm39) C55R probably damaging Het
Zfp326 T A 5: 106,059,359 (GRCm39) Y373* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CGTTCTTTAAAAGCACCTCCTG -3'
(R):5'- GTGCTTTAACAGAAACGTGTGC -3'

Sequencing Primer
(F):5'- GCACCTCCTGCTGTCTTGG -3'
(R):5'- AAACGTGTGCTGAGATCTGCC -3'
Posted On 2018-11-28