Incidental Mutation 'R8061:Pde2a'
| ID |
619702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
067497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.805)
|
| Stock # |
R8061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101153179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 413
(D413G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210364]
[ENSMUST00000211368]
|
| AlphaFold |
Q922S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084894
AA Change: D429G
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: D429G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GAF
|
57 |
181 |
4e-76 |
BLAST |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
GAF
|
235 |
382 |
2.2e-21 |
SMART |
|
GAF
|
404 |
553 |
6.11e-38 |
SMART |
|
HDc
|
648 |
817 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163751
AA Change: D407G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: D407G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GAF
|
57 |
181 |
4e-76 |
BLAST |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
GAF
|
235 |
386 |
2.22e-17 |
SMART |
|
GAF
|
408 |
557 |
6.11e-38 |
SMART |
|
HDc
|
652 |
821 |
9.04e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166652
AA Change: D403G
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: D403G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GAF
|
57 |
181 |
4e-76 |
BLAST |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
GAF
|
235 |
382 |
2.2e-21 |
SMART |
|
GAF
|
404 |
553 |
6.11e-38 |
SMART |
|
HDc
|
648 |
817 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209537
AA Change: D413G
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211368
AA Change: D403G
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.2040 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E17 and E18; another knock out mutation results in only some animals surviving to weaning age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
G |
A |
5: 115,255,710 (GRCm39) |
R42C |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,263,411 (GRCm39) |
R338C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,490,408 (GRCm39) |
E1008G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 101,747,456 (GRCm39) |
Y108N |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,728,982 (GRCm39) |
C369Y |
probably damaging |
Het |
| Asb3 |
A |
G |
11: 30,948,447 (GRCm39) |
N41S |
probably damaging |
Het |
| Astn1 |
G |
A |
1: 158,331,920 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,300 (GRCm39) |
M1770K |
possibly damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,853,527 (GRCm39) |
|
probably benign |
Het |
| Cfap300 |
A |
G |
9: 8,042,672 (GRCm39) |
W37R |
probably damaging |
Het |
| Chrm1 |
T |
C |
19: 8,656,518 (GRCm39) |
Y408H |
possibly damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,224 (GRCm39) |
H374R |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,491,655 (GRCm39) |
F390L |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,230,040 (GRCm39) |
Y100C |
probably benign |
Het |
| Cyria |
G |
T |
12: 12,412,028 (GRCm39) |
A150S |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,720,981 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,669,077 (GRCm39) |
Q1202* |
probably null |
Het |
| Disp1 |
C |
T |
1: 182,869,151 (GRCm39) |
V1090M |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,058 (GRCm39) |
D62G |
possibly damaging |
Het |
| Dock1 |
C |
T |
7: 134,374,052 (GRCm39) |
T566I |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,403,246 (GRCm39) |
M18R |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,546,884 (GRCm39) |
L296P |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,997,275 (GRCm39) |
D155V |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,124,903 (GRCm39) |
S465P |
possibly damaging |
Het |
| Eno1b |
G |
A |
18: 48,180,725 (GRCm39) |
W301* |
probably null |
Het |
| Fpgt |
A |
G |
3: 154,792,903 (GRCm39) |
S375P |
probably benign |
Het |
| Gas2l1 |
G |
A |
11: 5,011,785 (GRCm39) |
S348F |
possibly damaging |
Het |
| Gen1 |
A |
T |
12: 11,311,077 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,751,851 (GRCm39) |
C1412S |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,224 (GRCm39) |
E139G |
probably benign |
Het |
| Klhl2 |
A |
C |
8: 65,211,257 (GRCm39) |
L264V |
probably damaging |
Het |
| Lars2 |
A |
G |
9: 123,288,562 (GRCm39) |
T803A |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,612 (GRCm39) |
K232M |
probably damaging |
Het |
| Lix1 |
G |
A |
17: 17,663,938 (GRCm39) |
R92Q |
probably damaging |
Het |
| Meig1 |
C |
T |
2: 3,410,240 (GRCm39) |
V87I |
not run |
Het |
| Mitf |
A |
C |
6: 97,970,259 (GRCm39) |
S176R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,398 (GRCm39) |
V236A |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,030,239 (GRCm39) |
Y119* |
probably null |
Het |
| Ncapg2 |
A |
G |
12: 116,390,197 (GRCm39) |
N382S |
probably benign |
Het |
| Neu2 |
C |
T |
1: 87,524,633 (GRCm39) |
P206L |
probably damaging |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,792 (GRCm39) |
F147S |
probably damaging |
Het |
| Osbpl5 |
C |
T |
7: 143,256,461 (GRCm39) |
R454Q |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,956,297 (GRCm39) |
S13P |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,188,316 (GRCm39) |
Y803F |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,380,162 (GRCm39) |
|
probably benign |
Het |
| Pth2r |
T |
A |
1: 65,382,660 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,619,330 (GRCm39) |
|
probably null |
Het |
| Rapgef3 |
T |
C |
15: 97,659,401 (GRCm39) |
Y112C |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,422,492 (GRCm39) |
N907S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,522,938 (GRCm39) |
N922I |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,088,077 (GRCm39) |
V1620A |
possibly damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,018,361 (GRCm39) |
S280R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,965,419 (GRCm39) |
I63M |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,751,610 (GRCm39) |
V2817E |
unknown |
Het |
| Sprr3 |
T |
C |
3: 92,364,184 (GRCm39) |
E220G |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,762 (GRCm39) |
E14G |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,501,663 (GRCm39) |
D1289G |
probably damaging |
Het |
| Tmem121b |
C |
A |
6: 120,469,064 (GRCm39) |
G551V |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,523,404 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,805,409 (GRCm39) |
I3336L |
probably benign |
Het |
| Vmn1r200 |
C |
A |
13: 22,579,453 (GRCm39) |
Y85* |
probably null |
Het |
| Vps39 |
T |
C |
2: 120,174,692 (GRCm39) |
I97V |
probably benign |
Het |
| Zan |
T |
A |
5: 137,434,893 (GRCm39) |
I2167F |
unknown |
Het |
| Zfp37 |
A |
T |
4: 62,109,665 (GRCm39) |
Y507* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,793,573 (GRCm39) |
V55A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,340 (GRCm39) |
N294I |
possibly damaging |
Het |
| Zfp729a |
T |
C |
13: 67,768,208 (GRCm39) |
T674A |
probably benign |
Het |
|
| Other mutations in Pde2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Pde2a
|
APN |
7 |
101,133,796 (GRCm39) |
nonsense |
probably null |
|
|
IGL00731:Pde2a
|
APN |
7 |
101,157,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00807:Pde2a
|
APN |
7 |
101,153,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01339:Pde2a
|
APN |
7 |
101,156,366 (GRCm39) |
missense |
probably benign |
|
|
IGL01503:Pde2a
|
APN |
7 |
101,151,143 (GRCm39) |
splice site |
probably benign |
|
|
IGL01646:Pde2a
|
APN |
7 |
101,156,918 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01960:Pde2a
|
APN |
7 |
101,153,947 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02281:Pde2a
|
APN |
7 |
101,130,599 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02318:Pde2a
|
APN |
7 |
101,152,550 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02479:Pde2a
|
APN |
7 |
101,150,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02632:Pde2a
|
APN |
7 |
101,153,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02725:Pde2a
|
APN |
7 |
101,156,425 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL02888:Pde2a
|
APN |
7 |
101,154,276 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03027:Pde2a
|
APN |
7 |
101,130,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03114:Pde2a
|
APN |
7 |
101,157,890 (GRCm39) |
splice site |
probably benign |
|
|
PIT1430001:Pde2a
|
UTSW |
7 |
101,100,684 (GRCm39) |
splice site |
probably benign |
|
|
PIT4131001:Pde2a
|
UTSW |
7 |
101,160,361 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4431001:Pde2a
|
UTSW |
7 |
101,151,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Pde2a
|
UTSW |
7 |
101,133,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1298:Pde2a
|
UTSW |
7 |
101,156,409 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1300:Pde2a
|
UTSW |
7 |
101,159,611 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1451:Pde2a
|
UTSW |
7 |
101,071,198 (GRCm39) |
nonsense |
probably null |
|
|
R1731:Pde2a
|
UTSW |
7 |
101,150,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Pde2a
|
UTSW |
7 |
101,160,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Pde2a
|
UTSW |
7 |
101,133,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Pde2a
|
UTSW |
7 |
101,133,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2260:Pde2a
|
UTSW |
7 |
101,133,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Pde2a
|
UTSW |
7 |
101,130,590 (GRCm39) |
makesense |
probably null |
|
|
R4688:Pde2a
|
UTSW |
7 |
101,152,041 (GRCm39) |
missense |
probably benign |
|
|
R4717:Pde2a
|
UTSW |
7 |
101,143,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4723:Pde2a
|
UTSW |
7 |
101,143,825 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4758:Pde2a
|
UTSW |
7 |
101,160,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Pde2a
|
UTSW |
7 |
101,152,140 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5034:Pde2a
|
UTSW |
7 |
101,151,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5219:Pde2a
|
UTSW |
7 |
101,153,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Pde2a
|
UTSW |
7 |
101,155,187 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6083:Pde2a
|
UTSW |
7 |
101,152,086 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6114:Pde2a
|
UTSW |
7 |
101,160,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6365:Pde2a
|
UTSW |
7 |
101,159,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Pde2a
|
UTSW |
7 |
101,130,599 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6395:Pde2a
|
UTSW |
7 |
101,150,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6482:Pde2a
|
UTSW |
7 |
101,150,244 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6492:Pde2a
|
UTSW |
7 |
101,149,649 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6971:Pde2a
|
UTSW |
7 |
101,159,520 (GRCm39) |
nonsense |
probably null |
|
|
R7027:Pde2a
|
UTSW |
7 |
101,160,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Pde2a
|
UTSW |
7 |
101,157,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7107:Pde2a
|
UTSW |
7 |
101,071,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7142:Pde2a
|
UTSW |
7 |
101,153,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Pde2a
|
UTSW |
7 |
101,159,151 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7231:Pde2a
|
UTSW |
7 |
101,155,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7248:Pde2a
|
UTSW |
7 |
101,152,597 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7570:Pde2a
|
UTSW |
7 |
101,152,041 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7632:Pde2a
|
UTSW |
7 |
101,133,801 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7658:Pde2a
|
UTSW |
7 |
101,160,788 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8098:Pde2a
|
UTSW |
7 |
101,071,178 (GRCm39) |
missense |
probably benign |
|
|
R8165:Pde2a
|
UTSW |
7 |
101,149,655 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8297:Pde2a
|
UTSW |
7 |
101,153,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8513:Pde2a
|
UTSW |
7 |
101,158,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Pde2a
|
UTSW |
7 |
101,159,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Pde2a
|
UTSW |
7 |
101,155,136 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9045:Pde2a
|
UTSW |
7 |
101,152,498 (GRCm39) |
missense |
unknown |
|
|
R9054:Pde2a
|
UTSW |
7 |
101,156,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Pde2a
|
UTSW |
7 |
101,144,891 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9367:Pde2a
|
UTSW |
7 |
101,160,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9590:Pde2a
|
UTSW |
7 |
101,160,757 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCCGGGCCATCTTTAC -3'
(R):5'- GTTTCATAGAAACCCATGGCAAGC -3'
Sequencing Primer
(F):5'- GGGCCATCTTTACGATCTTCAC -3'
(R):5'- CAAGCAAAGTTAGCGCTGTCCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation