Incidental Mutation 'IGL02132:Pde9a'
ID |
281035 |
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 # |
IGL02132
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
31605184-31695284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31672444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 34
(T34I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116724
(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: T181I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000038005 Gene: ENSMUSG00000041119 AA Change: T181I
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: T181I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000117611 Gene: ENSMUSG00000041119 AA Change: T181I
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: T155I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000121003 Gene: ENSMUSG00000041119 AA Change: T155I
Domain | Start | End | E-Value | Type |
HDc
|
222 |
389 |
7.12e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136384
AA Change: T34I
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000116724 Gene: ENSMUSG00000041119 AA Change: T34I
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: ENSMUST00000154567
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155395
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137927
|
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: 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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513I03Rik |
G |
A |
10: 120,614,635 (GRCm39) |
|
probably benign |
Het |
4930432E11Rik |
C |
T |
7: 29,262,704 (GRCm39) |
|
noncoding transcript |
Het |
Adcy10 |
T |
C |
1: 165,400,112 (GRCm39) |
V1507A |
probably damaging |
Het |
Ap3b2 |
T |
A |
7: 81,110,746 (GRCm39) |
M1010L |
unknown |
Het |
Bmp10 |
T |
C |
6: 87,411,130 (GRCm39) |
S308P |
probably benign |
Het |
Cnih3 |
C |
A |
1: 181,282,274 (GRCm39) |
Y169* |
probably null |
Het |
Cpsf4l |
A |
G |
11: 113,590,685 (GRCm39) |
S222P |
possibly damaging |
Het |
Cyp2d10 |
G |
A |
15: 82,288,808 (GRCm39) |
|
probably benign |
Het |
Dcstamp |
A |
T |
15: 39,617,928 (GRCm39) |
E112D |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,929,496 (GRCm39) |
Q3967* |
probably null |
Het |
Gcm1 |
C |
A |
9: 77,972,121 (GRCm39) |
P354H |
possibly damaging |
Het |
Gen1 |
A |
G |
12: 11,291,867 (GRCm39) |
S706P |
probably benign |
Het |
Glb1l3 |
G |
T |
9: 26,736,466 (GRCm39) |
T532N |
probably benign |
Het |
Gm5069 |
T |
A |
1: 180,154,872 (GRCm39) |
|
probably benign |
Het |
Gzmc |
A |
C |
14: 56,471,422 (GRCm39) |
F40V |
probably benign |
Het |
Itgb2 |
G |
T |
10: 77,385,895 (GRCm39) |
C286F |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,131,124 (GRCm39) |
Y48C |
probably damaging |
Het |
Lrp2 |
G |
A |
2: 69,367,960 (GRCm39) |
S184L |
probably benign |
Het |
Myo1f |
T |
A |
17: 33,798,945 (GRCm39) |
N203K |
probably benign |
Het |
Nrxn2 |
G |
A |
19: 6,522,306 (GRCm39) |
G182R |
probably damaging |
Het |
Or4k15c |
T |
C |
14: 50,321,943 (GRCm39) |
N65S |
probably damaging |
Het |
Or4p8 |
A |
G |
2: 88,727,503 (GRCm39) |
V146A |
probably benign |
Het |
Or5g23 |
A |
C |
2: 85,438,664 (GRCm39) |
L197V |
probably benign |
Het |
Otog |
C |
T |
7: 45,954,903 (GRCm39) |
S2692L |
probably damaging |
Het |
Phip |
T |
C |
9: 82,763,394 (GRCm39) |
T1295A |
possibly damaging |
Het |
Pik3cb |
A |
G |
9: 98,953,430 (GRCm39) |
V451A |
probably benign |
Het |
Psd2 |
T |
G |
18: 36,137,809 (GRCm39) |
|
probably benign |
Het |
Pycr2 |
T |
C |
1: 180,733,762 (GRCm39) |
I118T |
probably damaging |
Het |
Rnf17 |
T |
G |
14: 56,658,623 (GRCm39) |
M104R |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,266,259 (GRCm39) |
V615A |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,327,747 (GRCm39) |
R511W |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,854,804 (GRCm39) |
N478D |
probably benign |
Het |
Trps1 |
T |
A |
15: 50,685,674 (GRCm39) |
S584C |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,284,491 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Zc3h13 |
T |
C |
14: 75,567,787 (GRCm39) |
S1027P |
probably benign |
Het |
Zfp644 |
A |
T |
5: 106,783,760 (GRCm39) |
I929K |
probably benign |
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 |
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 |
2015-04-16 |