Incidental Mutation 'R2208:Pde3a'
| ID |
236779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde3a
|
| Ensembl Gene |
ENSMUSG00000041741 |
| Gene Name |
phosphodiesterase 3A, cGMP inhibited |
| Synonyms |
A930022O17Rik |
| MMRRC Submission |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141194995-141452588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141196073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 253
(E253G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043259]
|
| AlphaFold |
Q9Z0X4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043259
AA Change: E253G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: E253G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
230 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
544 |
N/A |
INTRINSIC |
|
HDc
|
749 |
964 |
3.76e-4 |
SMART |
|
low complexity region
|
1028 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1133 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190040
|
| Meta Mutation Damage Score |
0.0617 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display female infertility with oocyte arrest. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,995,096 (GRCm39) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,444,755 (GRCm39) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,455,809 (GRCm39) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,084,941 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,895,327 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,302,463 (GRCm39) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,485,120 (GRCm39) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,705,419 (GRCm39) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,463 (GRCm39) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,242,314 (GRCm39) |
V22D |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,223,887 (GRCm39) |
N883K |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,441,137 (GRCm39) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 114,983,791 (GRCm39) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,879,588 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,604 (GRCm39) |
|
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm39) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,070,236 (GRCm39) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,270,309 (GRCm39) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 99,993,765 (GRCm39) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,224,838 (GRCm39) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,987 (GRCm39) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,698,872 (GRCm39) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,480,934 (GRCm39) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,755,747 (GRCm39) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,516,773 (GRCm39) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,856,545 (GRCm39) |
D196G |
probably damaging |
Het |
| Or11h4b |
T |
C |
14: 50,919,020 (GRCm39) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,207,722 (GRCm39) |
I198N |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,607,428 (GRCm39) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,976,602 (GRCm39) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,600,464 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,126,369 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,525,246 (GRCm39) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,378 (GRCm39) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,914 (GRCm39) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,714 (GRCm39) |
T92A |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,332,596 (GRCm39) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,888 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 51,104,321 (GRCm39) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,056,483 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,118,399 (GRCm39) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,646 (GRCm39) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,445,309 (GRCm39) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 26,079,362 (GRCm39) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,098 (GRCm39) |
C168R |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,035,065 (GRCm39) |
V462E |
probably benign |
Het |
|
| Other mutations in Pde3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01388:Pde3a
|
APN |
6 |
141,405,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01400:Pde3a
|
APN |
6 |
141,404,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01752:Pde3a
|
APN |
6 |
141,433,339 (GRCm39) |
splice site |
probably benign |
|
|
IGL01819:Pde3a
|
APN |
6 |
141,433,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02014:Pde3a
|
APN |
6 |
141,404,870 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02119:Pde3a
|
APN |
6 |
141,405,529 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02465:Pde3a
|
APN |
6 |
141,195,401 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02677:Pde3a
|
APN |
6 |
141,350,898 (GRCm39) |
splice site |
probably benign |
|
|
IGL02961:Pde3a
|
APN |
6 |
141,405,426 (GRCm39) |
nonsense |
probably null |
|
|
IGL03034:Pde3a
|
APN |
6 |
141,438,126 (GRCm39) |
splice site |
probably benign |
|
|
IGL03142:Pde3a
|
APN |
6 |
141,438,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4305001:Pde3a
|
UTSW |
6 |
141,438,036 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0412:Pde3a
|
UTSW |
6 |
141,444,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0517:Pde3a
|
UTSW |
6 |
141,444,383 (GRCm39) |
nonsense |
probably null |
|
|
R0573:Pde3a
|
UTSW |
6 |
141,437,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0621:Pde3a
|
UTSW |
6 |
141,195,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Pde3a
|
UTSW |
6 |
141,405,042 (GRCm39) |
splice site |
probably benign |
|
|
R1065:Pde3a
|
UTSW |
6 |
141,422,458 (GRCm39) |
splice site |
probably benign |
|
|
R1110:Pde3a
|
UTSW |
6 |
141,405,042 (GRCm39) |
splice site |
probably benign |
|
|
R1462:Pde3a
|
UTSW |
6 |
141,405,560 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1462:Pde3a
|
UTSW |
6 |
141,405,560 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1470:Pde3a
|
UTSW |
6 |
141,411,932 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1470:Pde3a
|
UTSW |
6 |
141,411,932 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1480:Pde3a
|
UTSW |
6 |
141,433,300 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1559:Pde3a
|
UTSW |
6 |
141,404,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Pde3a
|
UTSW |
6 |
141,433,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Pde3a
|
UTSW |
6 |
141,196,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Pde3a
|
UTSW |
6 |
141,444,496 (GRCm39) |
missense |
probably benign |
|
|
R1909:Pde3a
|
UTSW |
6 |
141,195,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2048:Pde3a
|
UTSW |
6 |
141,434,732 (GRCm39) |
splice site |
probably benign |
|
|
R2144:Pde3a
|
UTSW |
6 |
141,435,837 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2155:Pde3a
|
UTSW |
6 |
141,429,640 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2405:Pde3a
|
UTSW |
6 |
141,426,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4592:Pde3a
|
UTSW |
6 |
141,404,942 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4677:Pde3a
|
UTSW |
6 |
141,411,865 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4803:Pde3a
|
UTSW |
6 |
141,404,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Pde3a
|
UTSW |
6 |
141,416,668 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4999:Pde3a
|
UTSW |
6 |
141,195,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5055:Pde3a
|
UTSW |
6 |
141,433,682 (GRCm39) |
nonsense |
probably null |
|
|
R5181:Pde3a
|
UTSW |
6 |
141,426,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5640:Pde3a
|
UTSW |
6 |
141,429,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5694:Pde3a
|
UTSW |
6 |
141,196,228 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6176:Pde3a
|
UTSW |
6 |
141,444,615 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6394:Pde3a
|
UTSW |
6 |
141,433,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6692:Pde3a
|
UTSW |
6 |
141,425,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6968:Pde3a
|
UTSW |
6 |
141,433,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Pde3a
|
UTSW |
6 |
141,444,472 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7163:Pde3a
|
UTSW |
6 |
141,433,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Pde3a
|
UTSW |
6 |
141,195,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Pde3a
|
UTSW |
6 |
141,404,975 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8037:Pde3a
|
UTSW |
6 |
141,429,650 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8123:Pde3a
|
UTSW |
6 |
141,411,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8206:Pde3a
|
UTSW |
6 |
141,433,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Pde3a
|
UTSW |
6 |
141,433,527 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8376:Pde3a
|
UTSW |
6 |
141,426,947 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8893:Pde3a
|
UTSW |
6 |
141,405,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Pde3a
|
UTSW |
6 |
141,416,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Pde3a
|
UTSW |
6 |
141,195,614 (GRCm39) |
missense |
probably benign |
|
|
R9222:Pde3a
|
UTSW |
6 |
141,437,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Pde3a
|
UTSW |
6 |
141,425,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9385:Pde3a
|
UTSW |
6 |
141,437,982 (GRCm39) |
missense |
probably benign |
0.30 |
|
X0053:Pde3a
|
UTSW |
6 |
141,429,695 (GRCm39) |
splice site |
probably null |
|
|
X0062:Pde3a
|
UTSW |
6 |
141,195,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pde3a
|
UTSW |
6 |
141,196,195 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGACATGGCTGGTGCTGAG -3'
(R):5'- TCAAGTTTCCCAGGAGCAACC -3'
Sequencing Primer
(F):5'- CTGGTGCTGAGGCTGAGGC -3'
(R):5'- TGCTCCCTGGGTATGCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation