Incidental Mutation 'R4978:Pde9a'
| ID |
384633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde9a
|
| Ensembl Gene |
ENSMUSG00000041119 |
| Gene Name |
phosphodiesterase 9A |
| Synonyms |
PDE9A1 |
| MMRRC Submission |
042573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R4978 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31605184-31695284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31692197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 497
(D497E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121003
(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: D523E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000038005
Gene: ENSMUSG00000041119
AA Change: D523E
| 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: D523E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117611
Gene: ENSMUSG00000041119
AA Change: D523E
| 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: D497E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000121003
Gene: ENSMUSG00000041119
AA Change: D497E
| 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 |
noncoding transcript
Transcript: ENSMUST00000155113
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154392
AA Change: D168E
|
| SMART Domains |
Protein: ENSMUSP00000117065
Gene: ENSMUSG00000041119
AA Change: D168E
| 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 |
noncoding transcript
Transcript: ENSMUST00000154567
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (70/73) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
G |
A |
8: 56,324,436 (GRCm39) |
P673S |
probably damaging |
Het |
| Adam39 |
T |
C |
8: 41,278,374 (GRCm39) |
I255T |
possibly damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,296,205 (GRCm39) |
F1093S |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,618,381 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
T |
10: 126,854,265 (GRCm39) |
N744I |
probably benign |
Het |
| B430305J03Rik |
T |
C |
3: 61,271,440 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
A |
T |
10: 112,018,399 (GRCm39) |
Q141L |
probably benign |
Het |
| Capza2 |
T |
A |
6: 17,662,114 (GRCm39) |
D201E |
probably null |
Het |
| Ccdc7b |
T |
C |
8: 129,836,688 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,093,227 (GRCm39) |
V818I |
probably benign |
Het |
| Cpeb4 |
C |
T |
11: 31,881,509 (GRCm39) |
H723Y |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,153,742 (GRCm39) |
F384I |
possibly damaging |
Het |
| Cyp2c50 |
T |
G |
19: 40,086,501 (GRCm39) |
V355G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpys |
A |
T |
15: 39,690,332 (GRCm39) |
D340E |
possibly damaging |
Het |
| Dsp |
T |
A |
13: 38,366,210 (GRCm39) |
L548Q |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,252 (GRCm39) |
D335E |
probably benign |
Het |
| Etaa1 |
T |
C |
11: 17,896,581 (GRCm39) |
D512G |
probably damaging |
Het |
| Fam210b |
G |
C |
2: 172,187,585 (GRCm39) |
A2P |
probably damaging |
Het |
| Fbxo9 |
G |
A |
9: 77,993,168 (GRCm39) |
|
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,431,533 (GRCm39) |
M451K |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,074,241 (GRCm39) |
L102P |
probably damaging |
Het |
| Gins2 |
A |
G |
8: 121,315,550 (GRCm39) |
L40S |
possibly damaging |
Het |
| Gm5436 |
G |
A |
12: 84,305,461 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7298 |
T |
G |
6: 121,710,076 (GRCm39) |
|
probably null |
Het |
| Gm7353 |
A |
G |
7: 3,160,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1a |
T |
C |
7: 30,832,213 (GRCm39) |
E608G |
possibly damaging |
Het |
| Hcls1 |
T |
C |
16: 36,758,222 (GRCm39) |
W38R |
probably damaging |
Het |
| Ik |
C |
T |
18: 36,880,468 (GRCm39) |
P51S |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,111,604 (GRCm39) |
S2P |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,666 (GRCm39) |
N511I |
probably damaging |
Het |
| Limk2 |
G |
T |
11: 3,359,069 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
G |
2: 121,131,623 (GRCm39) |
V813G |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,662,416 (GRCm39) |
T31A |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,947,583 (GRCm39) |
F71S |
probably damaging |
Het |
| Neurod1 |
C |
T |
2: 79,284,571 (GRCm39) |
G271R |
probably damaging |
Het |
| Or52x1 |
T |
C |
7: 104,853,398 (GRCm39) |
I51V |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,651,654 (GRCm39) |
T41A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,478,169 (GRCm39) |
S98P |
possibly damaging |
Het |
| Prl2c1 |
A |
G |
13: 28,041,553 (GRCm39) |
T192A |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,508,894 (GRCm39) |
|
probably benign |
Het |
| Rab27b |
C |
T |
18: 70,127,585 (GRCm39) |
V68I |
probably benign |
Het |
| Reep5 |
A |
G |
18: 34,506,349 (GRCm39) |
F9S |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,313,798 (GRCm39) |
N1328D |
probably damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,042,300 (GRCm39) |
S626F |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,753,470 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,966,911 (GRCm39) |
F332I |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,082,891 (GRCm39) |
R1039Q |
possibly damaging |
Het |
| Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
| Tradd |
T |
C |
8: 105,985,900 (GRCm39) |
Q217R |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,205,055 (GRCm39) |
I550T |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,612,572 (GRCm39) |
Y18* |
probably null |
Het |
| Vmn1r49 |
G |
T |
6: 90,049,872 (GRCm39) |
N43K |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,517,808 (GRCm39) |
N82S |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,211,460 (GRCm39) |
D90G |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,154,752 (GRCm39) |
Y512C |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,000,295 (GRCm39) |
D434G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,405,183 (GRCm39) |
|
probably benign |
Het |
| Zfp286 |
A |
G |
11: 62,679,754 (GRCm39) |
|
probably null |
Het |
| Zkscan17 |
A |
G |
11: 59,384,053 (GRCm39) |
V123A |
possibly damaging |
Het |
| Zkscan2 |
C |
G |
7: 123,094,542 (GRCm39) |
A211P |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGCTCTGAGAGGACCTG -3'
(R):5'- AATCTCCACTGTGAGGTTAAAGG -3'
Sequencing Primer
(F):5'- GAGGACCTGAGTCTGCAATCCTAC -3'
(R):5'- GGATATCCCATGACTCAGTTTCTGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation