Incidental Mutation 'R6965:Pde9a'
ID |
541972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde9a
|
Ensembl Gene |
ENSMUSG00000041119 |
Gene Name |
phosphodiesterase 9A |
Synonyms |
PDE9A1 |
MMRRC Submission |
045075-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R6965 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
31605184-31695284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 31662861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 97
(V97L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121003
(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: V123L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000038005 Gene: ENSMUSG00000041119 AA Change: V123L
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: V123L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000117611 Gene: ENSMUSG00000041119 AA Change: V123L
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: V97L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000121003 Gene: ENSMUSG00000041119 AA Change: V97L
Domain | Start | End | E-Value | Type |
HDc
|
222 |
389 |
7.12e-5 |
SMART |
|
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: 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
T |
7: 119,882,452 (GRCm39) |
Q1205* |
probably null |
Het |
Als2 |
A |
G |
1: 59,209,716 (GRCm39) |
F1422S |
possibly damaging |
Het |
Anapc4 |
T |
C |
5: 52,993,093 (GRCm39) |
V68A |
possibly damaging |
Het |
Atmin |
T |
C |
8: 117,683,777 (GRCm39) |
F479S |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,518,101 (GRCm39) |
T234A |
probably benign |
Het |
Bpifa1 |
G |
A |
2: 153,987,581 (GRCm39) |
G144S |
probably damaging |
Het |
Brf2 |
A |
T |
8: 27,614,586 (GRCm39) |
M200K |
probably benign |
Het |
C1ql2 |
G |
A |
1: 120,268,944 (GRCm39) |
C33Y |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,045,319 (GRCm39) |
V269A |
probably damaging |
Het |
Clcc1 |
T |
C |
3: 108,580,625 (GRCm39) |
V313A |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,052,845 (GRCm39) |
T1117S |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,247,533 (GRCm39) |
E236K |
probably damaging |
Het |
Comp |
T |
C |
8: 70,829,164 (GRCm39) |
L278P |
probably damaging |
Het |
Csnk2a1-ps3 |
C |
T |
1: 156,352,119 (GRCm39) |
R107* |
probably null |
Het |
Dlg5 |
C |
A |
14: 24,199,498 (GRCm39) |
D1469Y |
probably damaging |
Het |
Efna1 |
A |
T |
3: 89,186,782 (GRCm39) |
V23D |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Epb41l4b |
T |
C |
4: 57,040,915 (GRCm39) |
Y516C |
probably damaging |
Het |
Esr2 |
T |
C |
12: 76,168,631 (GRCm39) |
D526G |
probably damaging |
Het |
Fam184b |
T |
C |
5: 45,712,477 (GRCm39) |
T514A |
probably benign |
Het |
Fcmr |
A |
C |
1: 130,803,724 (GRCm39) |
E176A |
possibly damaging |
Het |
Fry |
T |
A |
5: 150,339,685 (GRCm39) |
N1485K |
possibly damaging |
Het |
Fut2 |
A |
G |
7: 45,300,305 (GRCm39) |
C156R |
probably damaging |
Het |
Gm5431 |
T |
C |
11: 48,786,027 (GRCm39) |
Y116C |
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,047 (GRCm39) |
V61E |
possibly damaging |
Het |
Golga4 |
A |
T |
9: 118,377,847 (GRCm39) |
Q456L |
probably damaging |
Het |
Gpam |
T |
C |
19: 55,063,041 (GRCm39) |
Y757C |
probably damaging |
Het |
Iqcg |
C |
T |
16: 32,851,174 (GRCm39) |
A266T |
probably benign |
Het |
Lta4h |
G |
T |
10: 93,307,759 (GRCm39) |
G331* |
probably null |
Het |
Macf1 |
C |
A |
4: 123,302,538 (GRCm39) |
V655F |
probably benign |
Het |
Map3k13 |
T |
A |
16: 21,740,900 (GRCm39) |
D742E |
probably benign |
Het |
Mrgprb2 |
G |
A |
7: 48,202,597 (GRCm39) |
L43F |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,571,461 (GRCm39) |
R846G |
probably damaging |
Het |
Nbn |
T |
C |
4: 15,970,863 (GRCm39) |
I282T |
probably benign |
Het |
Ncor1 |
C |
T |
11: 62,244,059 (GRCm39) |
|
probably null |
Het |
Or4a77 |
G |
T |
2: 89,487,009 (GRCm39) |
P259T |
probably damaging |
Het |
Or4d10c |
A |
G |
19: 12,066,120 (GRCm39) |
F12S |
possibly damaging |
Het |
Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
Pclo |
A |
G |
5: 14,731,976 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,672,881 (GRCm39) |
Y771C |
possibly damaging |
Het |
R3hcc1l |
G |
A |
19: 42,551,284 (GRCm39) |
D94N |
probably damaging |
Het |
Rnpep |
T |
A |
1: 135,190,858 (GRCm39) |
K602* |
probably null |
Het |
Rph3al |
T |
C |
11: 75,745,276 (GRCm39) |
Y156C |
probably damaging |
Het |
Rundc1 |
A |
T |
11: 101,324,737 (GRCm39) |
Y481F |
possibly damaging |
Het |
Serpinb9f |
A |
G |
13: 33,509,859 (GRCm39) |
K17R |
possibly damaging |
Het |
Smpd3 |
T |
C |
8: 106,986,513 (GRCm39) |
H459R |
probably damaging |
Het |
Spata31 |
A |
C |
13: 65,070,648 (GRCm39) |
Q932P |
possibly damaging |
Het |
Srgap3 |
C |
T |
6: 112,700,090 (GRCm39) |
A963T |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,179,120 (GRCm39) |
F4451L |
possibly damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,014,266 (GRCm39) |
|
probably null |
Het |
Thap12 |
T |
A |
7: 98,364,669 (GRCm39) |
V279D |
probably damaging |
Het |
Tmprss6 |
T |
C |
15: 78,328,328 (GRCm39) |
D544G |
probably damaging |
Het |
Tox2 |
A |
G |
2: 163,164,930 (GRCm39) |
*523W |
probably null |
Het |
Txnrd1 |
T |
C |
10: 82,717,652 (GRCm39) |
I212T |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,685,725 (GRCm39) |
I2283T |
probably benign |
Het |
Vmn1r176 |
A |
G |
7: 23,535,099 (GRCm39) |
I18T |
possibly damaging |
Het |
Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
Vmn2r79 |
T |
A |
7: 86,651,100 (GRCm39) |
H166Q |
probably benign |
Het |
Zer1 |
A |
G |
2: 29,991,059 (GRCm39) |
V723A |
possibly 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 |
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 |
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'- AGTCTACTCTGAGAGCCCAG -3'
(R):5'- TCTGTCAAATCAGAGTGGCAC -3'
Sequencing Primer
(F):5'- TCTACTCTGAGAGCCCAGGACAG -3'
(R):5'- GCACACAGAAAGCTCGCATTTG -3'
|
Posted On |
2018-11-28 |