Incidental Mutation 'IGL02113:Pde9a'
ID |
280229 |
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 # |
IGL02113
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
31605184-31695284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 31678944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 262
(M262L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047168]
[ENSMUST00000124902]
[ENSMUST00000127929]
[ENSMUST00000131417]
[ENSMUST00000134525]
[ENSMUST00000137927]
[ENSMUST00000143549]
[ENSMUST00000136384]
[ENSMUST00000141314]
|
AlphaFold |
O70628 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047168
AA Change: M262L
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000038005 Gene: ENSMUSG00000041119 AA Change: M262L
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: M262L
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000117611 Gene: ENSMUSG00000041119 AA Change: M262L
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: M236L
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000121003 Gene: ENSMUSG00000041119 AA Change: M236L
Domain | Start | End | E-Value | Type |
HDc
|
222 |
389 |
7.12e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154567
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155395
|
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: 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 |
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 |
|
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 |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
T |
3: 121,904,127 (GRCm39) |
H726L |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,950,508 (GRCm39) |
Y900* |
probably null |
Het |
Atp11a |
G |
T |
8: 12,915,048 (GRCm39) |
R1155S |
probably benign |
Het |
Bahd1 |
A |
G |
2: 118,747,686 (GRCm39) |
D435G |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,444 (GRCm39) |
T1403A |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,842,590 (GRCm39) |
|
probably null |
Het |
Cog7 |
A |
G |
7: 121,524,703 (GRCm39) |
I697T |
probably damaging |
Het |
Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
Dgki |
A |
G |
6: 36,890,560 (GRCm39) |
|
probably benign |
Het |
Dpyd |
A |
G |
3: 118,792,868 (GRCm39) |
Y525C |
probably benign |
Het |
Eepd1 |
T |
C |
9: 25,394,009 (GRCm39) |
L91P |
probably damaging |
Het |
Foxf1 |
T |
A |
8: 121,811,304 (GRCm39) |
L56H |
probably damaging |
Het |
Fry |
A |
T |
5: 150,323,070 (GRCm39) |
M1074L |
probably benign |
Het |
Gbx1 |
T |
C |
5: 24,709,874 (GRCm39) |
T324A |
probably damaging |
Het |
Gfpt1 |
T |
A |
6: 87,064,349 (GRCm39) |
N646K |
probably benign |
Het |
Gm10258 |
C |
T |
3: 30,322,542 (GRCm39) |
|
probably benign |
Het |
Gm12887 |
T |
C |
4: 121,473,692 (GRCm39) |
M53V |
probably benign |
Het |
Hoxa11 |
C |
T |
6: 52,222,297 (GRCm39) |
G135S |
probably damaging |
Het |
Mettl6 |
A |
T |
14: 31,204,788 (GRCm39) |
Y211* |
probably null |
Het |
Moxd2 |
T |
C |
6: 40,862,338 (GRCm39) |
I160M |
probably benign |
Het |
Mphosph10 |
G |
A |
7: 64,026,555 (GRCm39) |
|
probably benign |
Het |
Mrpl19 |
T |
A |
6: 81,942,896 (GRCm39) |
M5L |
probably benign |
Het |
Nbea |
A |
G |
3: 55,899,913 (GRCm39) |
V1412A |
probably benign |
Het |
Nceh1 |
G |
T |
3: 27,277,040 (GRCm39) |
S121I |
probably damaging |
Het |
Ntan1 |
A |
G |
16: 13,653,008 (GRCm39) |
T217A |
probably damaging |
Het |
Ogfod1 |
C |
T |
8: 94,790,841 (GRCm39) |
A504V |
probably damaging |
Het |
Or52r1c |
A |
T |
7: 102,735,057 (GRCm39) |
I111L |
possibly damaging |
Het |
Pde3b |
G |
A |
7: 114,126,141 (GRCm39) |
V792M |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,191,279 (GRCm39) |
V206A |
probably benign |
Het |
Pkp1 |
A |
T |
1: 135,811,652 (GRCm39) |
N406K |
possibly damaging |
Het |
Rcn3 |
A |
G |
7: 44,732,762 (GRCm39) |
I302T |
probably damaging |
Het |
Rfx6 |
A |
G |
10: 51,554,108 (GRCm39) |
Q68R |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,371,301 (GRCm39) |
D340G |
possibly damaging |
Het |
Scn10a |
C |
T |
9: 119,438,956 (GRCm39) |
G1638S |
probably damaging |
Het |
Serpinb9f |
A |
T |
13: 33,518,451 (GRCm39) |
H317L |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,950,054 (GRCm39) |
I466T |
probably benign |
Het |
Smyd2 |
A |
T |
1: 189,614,414 (GRCm39) |
S371R |
probably damaging |
Het |
Snap47 |
A |
C |
11: 59,319,262 (GRCm39) |
I292S |
probably damaging |
Het |
Tbx4 |
A |
G |
11: 85,803,090 (GRCm39) |
E322G |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,577,179 (GRCm39) |
T1501A |
probably benign |
Het |
Tmem259 |
A |
G |
10: 79,814,543 (GRCm39) |
V300A |
probably benign |
Het |
Usp7 |
A |
G |
16: 8,534,377 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
G |
T |
17: 18,477,937 (GRCm39) |
T158K |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,660,169 (GRCm39) |
A194S |
possibly damaging |
Het |
Zfp944 |
A |
T |
17: 22,558,047 (GRCm39) |
I400N |
possibly damaging |
Het |
Zmynd12 |
T |
A |
4: 119,291,194 (GRCm39) |
I53K |
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 |
|
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 |
2015-04-16 |