Incidental Mutation 'R6826:Pde9a'
| ID |
534188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde9a
|
| Ensembl Gene |
ENSMUSG00000041119 |
| Gene Name |
phosphodiesterase 9A |
| Synonyms |
PDE9A1 |
| MMRRC Submission |
045019-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R6826 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
31605184-31695284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31685414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 382
(D382G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047168]
[ENSMUST00000124902]
[ENSMUST00000127929]
[ENSMUST00000131417]
[ENSMUST00000134525]
[ENSMUST00000137927]
[ENSMUST00000143549]
|
| AlphaFold |
O70628 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047168
AA Change: D382G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: D382G
| 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: D382G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: D382G
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
248 |
415 |
7.12e-5 |
SMART |
|
| 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: D356G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: D356G
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
7.12e-5 |
SMART |
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117065
Gene: ENSMUSG00000041119
AA Change: D62G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,107,431 (GRCm39) |
N728S |
probably benign |
Het |
| Acaca |
T |
C |
11: 84,086,362 (GRCm39) |
S63P |
probably damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,325,733 (GRCm39) |
V120A |
probably benign |
Het |
| Ap4b1 |
G |
A |
3: 103,720,224 (GRCm39) |
|
probably null |
Het |
| Apol7e |
T |
A |
15: 77,602,491 (GRCm39) |
V363D |
probably damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,563,167 (GRCm39) |
L259Q |
probably damaging |
Het |
| Cdhr17 |
A |
G |
5: 17,013,292 (GRCm39) |
I219V |
unknown |
Het |
| Clca3a2 |
T |
C |
3: 144,523,815 (GRCm39) |
T57A |
possibly damaging |
Het |
| Copb1 |
T |
C |
7: 113,825,954 (GRCm39) |
T677A |
probably benign |
Het |
| Crhr2 |
T |
C |
6: 55,094,725 (GRCm39) |
|
probably benign |
Het |
| Cyp11a1 |
A |
G |
9: 57,932,370 (GRCm39) |
T228A |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,008,247 (GRCm39) |
I2084V |
probably benign |
Het |
| Dnajc17 |
T |
C |
2: 119,011,408 (GRCm39) |
K174R |
probably damaging |
Het |
| Dnm2 |
T |
A |
9: 21,415,767 (GRCm39) |
Y646* |
probably null |
Het |
| Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
| Elmo3 |
A |
T |
8: 106,033,378 (GRCm39) |
I115F |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,826,883 (GRCm39) |
T268A |
probably benign |
Het |
| F10 |
T |
C |
8: 13,096,165 (GRCm39) |
|
probably null |
Het |
| Fmo4 |
C |
T |
1: 162,631,338 (GRCm39) |
V210M |
probably damaging |
Het |
| Foxred2 |
G |
T |
15: 77,831,285 (GRCm39) |
H509Q |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,371 (GRCm39) |
I101M |
probably damaging |
Het |
| Igkv5-48 |
T |
C |
6: 69,703,584 (GRCm39) |
Y107C |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,958,095 (GRCm39) |
|
probably null |
Het |
| Leng8 |
T |
A |
7: 4,148,319 (GRCm39) |
V697E |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,189,000 (GRCm39) |
N21S |
unknown |
Het |
| Midn |
T |
A |
10: 79,989,961 (GRCm39) |
C126* |
probably null |
Het |
| Mlh3 |
A |
T |
12: 85,292,598 (GRCm39) |
V1303E |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,357 (GRCm39) |
L526P |
probably damaging |
Het |
| Or10ag55-ps1 |
G |
A |
2: 87,114,672 (GRCm39) |
E13K |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,452 (GRCm39) |
V173E |
probably benign |
Het |
| Pde6b |
C |
T |
5: 108,578,458 (GRCm39) |
R799* |
probably null |
Het |
| Pdrg1 |
A |
C |
2: 152,852,176 (GRCm39) |
|
probably null |
Het |
| Peg10 |
C |
CATCAGGATG |
6: 4,756,353 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
C |
A |
6: 14,718,980 (GRCm39) |
E645* |
probably null |
Het |
| Prrc2b |
A |
G |
2: 32,112,300 (GRCm39) |
|
probably null |
Het |
| Ptprb |
T |
A |
10: 116,153,277 (GRCm39) |
M578K |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,810,241 (GRCm39) |
V314F |
probably damaging |
Het |
| Rps9 |
C |
A |
7: 3,708,775 (GRCm39) |
D84E |
probably benign |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Serpina1e |
A |
G |
12: 103,915,397 (GRCm39) |
F270L |
probably benign |
Het |
| Slc24a5 |
G |
A |
2: 124,910,778 (GRCm39) |
V70I |
probably benign |
Het |
| Slfn14 |
C |
A |
11: 83,172,644 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
G |
T |
11: 60,669,688 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Snx16 |
A |
T |
3: 10,503,148 (GRCm39) |
V33D |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,194,483 (GRCm39) |
T131A |
probably damaging |
Het |
| Tnfaip8l3 |
G |
T |
9: 53,934,783 (GRCm39) |
T64K |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,567 (GRCm39) |
Y809* |
probably null |
Het |
| Vmn2r25 |
A |
G |
6: 123,800,071 (GRCm39) |
V757A |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,182,327 (GRCm39) |
Y457* |
probably null |
Het |
| Wee1 |
T |
C |
7: 109,723,870 (GRCm39) |
|
probably null |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,907 (GRCm39) |
E520G |
probably damaging |
Het |
| Zfp579 |
G |
T |
7: 4,997,425 (GRCm39) |
A162D |
probably benign |
Het |
| Zfp811 |
A |
G |
17: 33,016,762 (GRCm39) |
F425S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGATGACTCATCTGTCGGCC -3'
(R):5'- AGGCGGTACTTGAGTCACAG -3'
Sequencing Primer
(F):5'- CCTGTGATCTGCAGCTTGTAGAC -3'
(R):5'- GCGGTACTTGAGTCACAGAATACTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation