Incidental Mutation 'IGL03128:Pde9a'
| ID |
410205 |
| 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)
|
| Stock # |
IGL03128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31605184-31695284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31678884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 216
(H216Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047168]
[ENSMUST00000124902]
[ENSMUST00000127929]
[ENSMUST00000131417]
[ENSMUST00000134525]
[ENSMUST00000136384]
[ENSMUST00000137927]
[ENSMUST00000143549]
[ENSMUST00000141314]
|
| AlphaFold |
O70628 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047168
AA Change: H242Y
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: H242Y
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
248 |
415 |
7.12e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124902
|
| SMART Domains |
Protein: ENSMUSP00000118869
Gene: ENSMUSG00000041119
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QI4|B
|
1 |
77 |
3e-47 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127929
AA Change: H242Y
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: H242Y
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QI4|B
|
1 |
23 |
7e-9 |
PDB |
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134525
AA Change: H216Y
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: H216Y
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
7.12e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136384
|
| SMART Domains |
Protein: ENSMUSP00000116724
Gene: ENSMUSG00000041119
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QI4|B
|
1 |
80 |
2e-50 |
PDB |
|
SCOP:d1f0ja_
|
28 |
80 |
2e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154567
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143549
|
| SMART Domains |
Protein: ENSMUSP00000117911
Gene: ENSMUSG00000041119
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QI4|B
|
1 |
23 |
5e-9 |
PDB |
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141314
|
| SMART Domains |
Protein: ENSMUSP00000117364
Gene: ENSMUSG00000041119
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QI4|B
|
1 |
72 |
3e-45 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154392
|
| SMART Domains |
Protein: ENSMUSP00000117065
Gene: ENSMUSG00000041119
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,072,829 (GRCm39) |
L114M |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,159,260 (GRCm39) |
|
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,959 (GRCm39) |
I226N |
probably damaging |
Het |
| Cth |
C |
T |
3: 157,626,672 (GRCm39) |
G56D |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,883,621 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,909,491 (GRCm39) |
M271K |
probably benign |
Het |
| Fam78b |
T |
A |
1: 166,906,510 (GRCm39) |
L223Q |
probably damaging |
Het |
| Fgl2 |
A |
T |
5: 21,578,291 (GRCm39) |
M193L |
probably benign |
Het |
| Ifi205 |
A |
T |
1: 173,842,652 (GRCm39) |
V348E |
probably damaging |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,998 (GRCm39) |
K74N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,960,480 (GRCm39) |
K1355M |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,832 (GRCm39) |
N576K |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,395,005 (GRCm39) |
|
probably null |
Het |
| Nfic |
T |
C |
10: 81,242,025 (GRCm39) |
T328A |
probably benign |
Het |
| Npat |
T |
A |
9: 53,461,333 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,230,798 (GRCm39) |
I524V |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,054 (GRCm39) |
E486K |
probably benign |
Het |
| Polr2k |
C |
A |
15: 36,174,337 (GRCm39) |
P31Q |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,518,608 (GRCm39) |
|
probably benign |
Het |
| Raver1 |
A |
T |
9: 20,992,038 (GRCm39) |
L385Q |
probably damaging |
Het |
| Slc10a7 |
C |
A |
8: 79,251,846 (GRCm39) |
T80K |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,802,282 (GRCm39) |
K272R |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,615,708 (GRCm39) |
I200V |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,892,714 (GRCm39) |
N4S |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,781 (GRCm39) |
S356P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,891,829 (GRCm39) |
Y903C |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,268,795 (GRCm39) |
F333V |
probably damaging |
Het |
|
| Other mutations in Pde9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2016-08-02 |
Incidental Mutation