Incidental Mutation 'IGL00757:Pde9a'
| ID |
12963 |
| 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 # |
IGL00757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31605184-31695284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31662146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 90
(E90G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047168]
[ENSMUST00000124902]
[ENSMUST00000127929]
[ENSMUST00000131417]
[ENSMUST00000134525]
[ENSMUST00000136384]
[ENSMUST00000141314]
[ENSMUST00000137927]
[ENSMUST00000143549]
|
| AlphaFold |
O70628 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047168
AA Change: E90G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: E90G
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
248 |
415 |
7.12e-5 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124902
AA Change: K80E
|
| SMART Domains |
Protein: ENSMUSP00000118869
Gene: ENSMUSG00000041119
AA Change: K80E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QI4|B
|
1 |
77 |
3e-47 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127929
AA Change: E90G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: E90G
| 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 |
probably benign
Transcript: ENSMUST00000134525
AA Change: E64G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: E64G
| 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 |
silent
Transcript: ENSMUST00000141314
|
| SMART Domains |
Protein: ENSMUSP00000117364
Gene: ENSMUSG00000041119
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QI4|B
|
1 |
72 |
3e-45 |
PDB |
|
| 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 |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
A |
C |
9: 54,530,003 (GRCm39) |
I231R |
possibly damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,596,696 (GRCm39) |
P94S |
probably damaging |
Het |
| Cldn34b3 |
T |
C |
X: 75,310,978 (GRCm39) |
I182T |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,191,539 (GRCm39) |
|
probably benign |
Het |
| Cwf19l2 |
G |
T |
9: 3,460,054 (GRCm39) |
A781S |
probably damaging |
Het |
| Cyp4v3 |
T |
C |
8: 45,773,652 (GRCm39) |
I172M |
probably damaging |
Het |
| Fcgbpl1 |
T |
G |
7: 27,853,870 (GRCm39) |
C1611W |
probably damaging |
Het |
| Gmnc |
T |
G |
16: 26,782,689 (GRCm39) |
D22A |
probably damaging |
Het |
| Gpr89 |
T |
A |
3: 96,778,850 (GRCm39) |
T408S |
probably benign |
Het |
| Grk2 |
A |
G |
19: 4,339,339 (GRCm39) |
|
probably null |
Het |
| Kctd3 |
A |
G |
1: 188,704,393 (GRCm39) |
S793P |
probably damaging |
Het |
| Lhx1 |
A |
G |
11: 84,410,478 (GRCm39) |
F373S |
probably damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,976 (GRCm39) |
I71F |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,234,302 (GRCm39) |
I91N |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,939,552 (GRCm39) |
D2110E |
probably damaging |
Het |
| Plaat5 |
G |
T |
19: 7,591,924 (GRCm39) |
E113D |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
| R3hdm1 |
T |
G |
1: 128,164,176 (GRCm39) |
I1030R |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,633,490 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
A |
G |
12: 103,659,721 (GRCm39) |
I187T |
probably damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,457,323 (GRCm39) |
T188M |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,901,440 (GRCm39) |
H1500R |
probably benign |
Het |
| Sptlc2 |
C |
T |
12: 87,415,842 (GRCm39) |
E62K |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,405,581 (GRCm39) |
S326T |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,153,235 (GRCm39) |
Y39H |
probably damaging |
Het |
|
| Other mutations in Pde9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation