Incidental Mutation 'R7480:Pde5a'
| ID |
579718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde5a
|
| Ensembl Gene |
ENSMUSG00000053965 |
| Gene Name |
phosphodiesterase 5A, cGMP-specific |
| Synonyms |
Pde5, PDE5A1 |
| MMRRC Submission |
045554-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R7480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
122522822-122653023 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122596797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 495
(N495Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066728]
[ENSMUST00000200389]
|
| AlphaFold |
Q8CG03 |
| PDB Structure |
Solution Structure of cGMP-binding GAF domain of Phosphodiesterase 5 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066728
AA Change: N495Y
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069011
Gene: ENSMUSG00000053965
AA Change: N495Y
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GAF
|
64 |
152 |
4e-42 |
BLAST |
|
GAF
|
154 |
314 |
2.23e-31 |
SMART |
|
GAF
|
336 |
503 |
9.8e-28 |
SMART |
|
HDc
|
600 |
768 |
8.11e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200389
AA Change: N463Y
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143042
Gene: ENSMUSG00000053965
AA Change: N463Y
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GAF
|
32 |
120 |
3e-42 |
BLAST |
|
GAF
|
122 |
282 |
1.1e-33 |
SMART |
|
GAF
|
304 |
471 |
4.7e-30 |
SMART |
|
HDc
|
568 |
736 |
4.4e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
T |
G |
9: 50,733,928 (GRCm39) |
M542R |
probably benign |
Het |
| Apol10b |
G |
T |
15: 77,472,988 (GRCm39) |
A22D |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,862,936 (GRCm39) |
L704* |
probably null |
Het |
| Bicc1 |
T |
C |
10: 70,779,306 (GRCm39) |
D694G |
probably damaging |
Het |
| C1ql3 |
A |
T |
2: 13,015,150 (GRCm39) |
I170N |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,029,043 (GRCm39) |
F1163L |
probably damaging |
Het |
| Ces2f |
A |
G |
8: 105,681,338 (GRCm39) |
K559R |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Cr2 |
C |
T |
1: 194,836,484 (GRCm39) |
C893Y |
probably damaging |
Het |
| Csf1r |
T |
G |
18: 61,250,610 (GRCm39) |
D440E |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,848,738 (GRCm39) |
M666K |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,905,311 (GRCm39) |
D1007G |
probably benign |
Het |
| Dlk1 |
T |
A |
12: 109,421,540 (GRCm39) |
C85S |
probably damaging |
Het |
| Epb41l3 |
A |
C |
17: 69,568,867 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
A |
7: 119,385,734 (GRCm39) |
R256* |
probably null |
Het |
| Fshr |
A |
C |
17: 89,292,802 (GRCm39) |
Y625* |
probably null |
Het |
| Galk2 |
A |
G |
2: 125,788,845 (GRCm39) |
I300V |
probably benign |
Het |
| Garin1a |
G |
A |
6: 29,281,435 (GRCm39) |
|
probably null |
Het |
| Gm3409 |
T |
A |
5: 146,476,311 (GRCm39) |
V154E |
probably damaging |
Het |
| Gm7356 |
A |
G |
17: 14,221,327 (GRCm39) |
I234T |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,241,713 (GRCm39) |
Y1995C |
probably benign |
Het |
| Herc6 |
C |
T |
6: 57,558,206 (GRCm39) |
T62I |
possibly damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,552,985 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
G |
5: 24,751,904 (GRCm39) |
E498A |
probably damaging |
Het |
| Jrk |
G |
T |
15: 74,578,902 (GRCm39) |
P128T |
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,107,431 (GRCm39) |
F229L |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,436,025 (GRCm39) |
V1256E |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,846 (GRCm39) |
S133P |
probably benign |
Het |
| Mpzl1 |
A |
G |
1: 165,432,257 (GRCm39) |
V176A |
possibly damaging |
Het |
| Mxi1 |
A |
G |
19: 53,360,066 (GRCm39) |
T263A |
possibly damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,716,595 (GRCm39) |
W5* |
probably null |
Het |
| Nt5dc1 |
C |
T |
10: 34,200,450 (GRCm39) |
G190R |
probably damaging |
Het |
| Nt5dc1 |
C |
A |
10: 34,200,449 (GRCm39) |
G190V |
probably damaging |
Het |
| Oprd1 |
A |
G |
4: 131,844,492 (GRCm39) |
I172T |
possibly damaging |
Het |
| Or1f19 |
A |
T |
16: 3,410,493 (GRCm39) |
T78S |
probably benign |
Het |
| Or4k38 |
A |
G |
2: 111,165,737 (GRCm39) |
S229P |
probably benign |
Het |
| Or6f1 |
A |
G |
7: 85,970,888 (GRCm39) |
S91P |
probably benign |
Het |
| Or7e173 |
C |
T |
9: 19,939,230 (GRCm39) |
M1I |
probably null |
Het |
| Pafah1b1 |
A |
C |
11: 74,576,740 (GRCm39) |
C184G |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,225,234 (GRCm39) |
Y588* |
probably null |
Het |
| Plekha7 |
A |
T |
7: 115,736,403 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
T |
C |
4: 143,622,065 (GRCm39) |
D430G |
probably benign |
Het |
| Prdm11 |
T |
C |
2: 92,805,669 (GRCm39) |
K427R |
probably benign |
Het |
| Rai14 |
C |
A |
15: 10,571,622 (GRCm39) |
E940D |
probably benign |
Het |
| Rasl11b |
T |
A |
5: 74,358,771 (GRCm39) |
V92E |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,765,757 (GRCm39) |
I29K |
unknown |
Het |
| Reg3a |
C |
T |
6: 78,359,330 (GRCm39) |
T110I |
probably damaging |
Het |
| Scaf1 |
C |
T |
7: 44,657,073 (GRCm39) |
G602D |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,029,199 (GRCm39) |
C521R |
probably damaging |
Het |
| Senp7 |
G |
A |
16: 55,975,589 (GRCm39) |
V432I |
possibly damaging |
Het |
| Skint8 |
A |
T |
4: 111,785,784 (GRCm39) |
R77* |
probably null |
Het |
| Slamf9 |
G |
A |
1: 172,305,040 (GRCm39) |
C218Y |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,649 (GRCm39) |
T130A |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,574 (GRCm39) |
I126V |
possibly damaging |
Het |
| Taar9 |
T |
A |
10: 23,984,843 (GRCm39) |
N197I |
possibly damaging |
Het |
| Tango6 |
A |
T |
8: 107,423,359 (GRCm39) |
D378V |
possibly damaging |
Het |
| Tfb2m |
A |
G |
1: 179,356,747 (GRCm39) |
F396L |
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,903,729 (GRCm39) |
P429L |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,934,747 (GRCm39) |
D2452G |
probably damaging |
Het |
| Ulk3 |
C |
T |
9: 57,498,523 (GRCm39) |
R131* |
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,558 (GRCm39) |
R250* |
probably null |
Het |
| Vmn1r54 |
A |
G |
6: 90,246,160 (GRCm39) |
I25V |
possibly damaging |
Het |
| Wnt7a |
C |
A |
6: 91,371,395 (GRCm39) |
R189L |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,701,505 (GRCm39) |
R1112* |
probably null |
Het |
| Zfp114 |
T |
A |
7: 23,881,307 (GRCm39) |
V552D |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Pde5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Pde5a
|
APN |
3 |
122,588,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00945:Pde5a
|
APN |
3 |
122,629,291 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01395:Pde5a
|
APN |
3 |
122,611,604 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01872:Pde5a
|
APN |
3 |
122,588,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01947:Pde5a
|
APN |
3 |
122,629,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02033:Pde5a
|
APN |
3 |
122,596,710 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02209:Pde5a
|
APN |
3 |
122,618,664 (GRCm39) |
splice site |
probably benign |
|
|
IGL02220:Pde5a
|
APN |
3 |
122,542,031 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02301:Pde5a
|
APN |
3 |
122,554,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02748:Pde5a
|
APN |
3 |
122,554,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0009:Pde5a
|
UTSW |
3 |
122,618,551 (GRCm39) |
splice site |
probably benign |
|
|
R0031:Pde5a
|
UTSW |
3 |
122,596,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0119:Pde5a
|
UTSW |
3 |
122,542,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Pde5a
|
UTSW |
3 |
122,629,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Pde5a
|
UTSW |
3 |
122,611,726 (GRCm39) |
splice site |
probably benign |
|
|
R0499:Pde5a
|
UTSW |
3 |
122,542,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0657:Pde5a
|
UTSW |
3 |
122,542,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Pde5a
|
UTSW |
3 |
122,522,980 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0908:Pde5a
|
UTSW |
3 |
122,572,650 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1147:Pde5a
|
UTSW |
3 |
122,587,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Pde5a
|
UTSW |
3 |
122,587,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Pde5a
|
UTSW |
3 |
122,572,585 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1728:Pde5a
|
UTSW |
3 |
122,541,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Pde5a
|
UTSW |
3 |
122,541,546 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1774:Pde5a
|
UTSW |
3 |
122,523,013 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1784:Pde5a
|
UTSW |
3 |
122,541,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Pde5a
|
UTSW |
3 |
122,636,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2844:Pde5a
|
UTSW |
3 |
122,645,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Pde5a
|
UTSW |
3 |
122,572,651 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2936:Pde5a
|
UTSW |
3 |
122,587,968 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3160:Pde5a
|
UTSW |
3 |
122,575,277 (GRCm39) |
nonsense |
probably null |
|
|
R3162:Pde5a
|
UTSW |
3 |
122,575,277 (GRCm39) |
nonsense |
probably null |
|
|
R3704:Pde5a
|
UTSW |
3 |
122,572,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3847:Pde5a
|
UTSW |
3 |
122,596,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3932:Pde5a
|
UTSW |
3 |
122,554,545 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4387:Pde5a
|
UTSW |
3 |
122,523,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4613:Pde5a
|
UTSW |
3 |
122,616,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Pde5a
|
UTSW |
3 |
122,541,542 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5034:Pde5a
|
UTSW |
3 |
122,646,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5034:Pde5a
|
UTSW |
3 |
122,646,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Pde5a
|
UTSW |
3 |
122,541,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Pde5a
|
UTSW |
3 |
122,611,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Pde5a
|
UTSW |
3 |
122,596,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5821:Pde5a
|
UTSW |
3 |
122,611,604 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5932:Pde5a
|
UTSW |
3 |
122,634,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6063:Pde5a
|
UTSW |
3 |
122,618,574 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6190:Pde5a
|
UTSW |
3 |
122,522,956 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6815:Pde5a
|
UTSW |
3 |
122,618,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6940:Pde5a
|
UTSW |
3 |
122,572,681 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7274:Pde5a
|
UTSW |
3 |
122,648,895 (GRCm39) |
nonsense |
probably null |
|
|
R7337:Pde5a
|
UTSW |
3 |
122,542,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Pde5a
|
UTSW |
3 |
122,618,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Pde5a
|
UTSW |
3 |
122,611,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Pde5a
|
UTSW |
3 |
122,634,648 (GRCm39) |
nonsense |
probably null |
|
|
R7623:Pde5a
|
UTSW |
3 |
122,568,250 (GRCm39) |
missense |
probably benign |
|
|
R8153:Pde5a
|
UTSW |
3 |
122,646,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8153:Pde5a
|
UTSW |
3 |
122,646,225 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8351:Pde5a
|
UTSW |
3 |
122,542,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8927:Pde5a
|
UTSW |
3 |
122,633,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Pde5a
|
UTSW |
3 |
122,633,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCATGGTGACTGATGATC -3'
(R):5'- GTTCGGTCATATGAGCCTCG -3'
Sequencing Primer
(F):5'- AGCCATGGTGACTGATGATCTTATG -3'
(R):5'- GAGTCTAGGCATTTGGAATCTACTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation