Incidental Mutation 'IGL02371:Pde9a'
| ID |
290942 |
| 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 # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
31605184-31695284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31639259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 63
(V63D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047168]
[ENSMUST00000124902]
[ENSMUST00000127929]
[ENSMUST00000131417]
[ENSMUST00000134525]
[ENSMUST00000137927]
[ENSMUST00000141314]
[ENSMUST00000143549]
|
| AlphaFold |
O70628 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047168
AA Change: S87T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: S87T
| 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: S87T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: S87T
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
248 |
415 |
7.12e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131417
AA Change: V63D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115188
Gene: ENSMUSG00000041119
AA Change: V63D
| 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: S61T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: S61T
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
7.12e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137927
AA Change: V37D
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000154567
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
| Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation