Incidental Mutation 'IGL03114:Pde2a'
| ID |
419349 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.805)
|
| Stock # |
IGL03114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 101157890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210364]
[ENSMUST00000211368]
|
| AlphaFold |
Q922S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084894
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
| 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: ENSMUST00000163751
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
| 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 |
probably benign
Transcript: ENSMUST00000166652
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211368
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
T |
3: 59,651,144 (GRCm39) |
I89F |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,478,999 (GRCm39) |
H4282Q |
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,222,310 (GRCm39) |
|
probably null |
Het |
| Arl10 |
A |
G |
13: 54,723,579 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
A |
G |
10: 122,285,623 (GRCm39) |
Y305C |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,906,603 (GRCm39) |
N565K |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,307,115 (GRCm39) |
S1035R |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,694,532 (GRCm39) |
S1654T |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,753,170 (GRCm39) |
N187S |
possibly damaging |
Het |
| Cntn5 |
C |
T |
9: 9,748,457 (GRCm39) |
E680K |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,946,835 (GRCm39) |
Y1014* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,683,847 (GRCm39) |
S1662P |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,353,042 (GRCm39) |
F360L |
possibly damaging |
Het |
| Efnb3 |
A |
T |
11: 69,447,628 (GRCm39) |
|
probably benign |
Het |
| Egf |
A |
T |
3: 129,530,529 (GRCm39) |
L211Q |
probably damaging |
Het |
| Eno1 |
G |
A |
4: 150,325,583 (GRCm39) |
R56H |
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
| Git2 |
G |
A |
5: 114,871,918 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,752 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
T |
6: 24,755,964 (GRCm39) |
I61L |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,217,885 (GRCm39) |
|
probably null |
Het |
| Kif13b |
T |
C |
14: 65,025,897 (GRCm39) |
V1418A |
probably benign |
Het |
| Lcn12 |
T |
C |
2: 25,383,274 (GRCm39) |
K35E |
probably benign |
Het |
| Lyrm7 |
G |
T |
11: 54,741,198 (GRCm39) |
N45K |
possibly damaging |
Het |
| Mical2 |
G |
T |
7: 111,996,764 (GRCm39) |
G559V |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,712,441 (GRCm39) |
C648* |
probably null |
Het |
| Muc5b |
C |
A |
7: 141,412,556 (GRCm39) |
S1834* |
probably null |
Het |
| Mup16 |
G |
A |
4: 61,436,250 (GRCm39) |
T101M |
probably benign |
Het |
| Myof |
A |
T |
19: 37,892,309 (GRCm39) |
L1148Q |
probably damaging |
Het |
| Nags |
A |
T |
11: 102,039,814 (GRCm39) |
I501F |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,317,886 (GRCm39) |
Y672F |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,415,993 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,891,365 (GRCm39) |
S7056P |
unknown |
Het |
| Or52s1 |
T |
C |
7: 102,861,928 (GRCm39) |
I287T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,163,343 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,268,395 (GRCm39) |
D3328Y |
probably damaging |
Het |
| Plxdc2 |
T |
C |
2: 16,654,935 (GRCm39) |
V178A |
probably damaging |
Het |
| Prdx3 |
T |
C |
19: 60,861,556 (GRCm39) |
|
probably benign |
Het |
| Prkce |
T |
A |
17: 86,961,983 (GRCm39) |
D694E |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,012 (GRCm39) |
C205S |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,142,058 (GRCm39) |
Y405* |
probably null |
Het |
| Rad54l |
A |
T |
4: 115,955,729 (GRCm39) |
W608R |
probably damaging |
Het |
| Rassf6 |
G |
T |
5: 90,756,649 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,673,573 (GRCm39) |
I804F |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,572,267 (GRCm39) |
I668N |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 130,116,288 (GRCm39) |
E1347G |
probably benign |
Het |
| Tmco3 |
T |
C |
8: 13,348,205 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,996 (GRCm39) |
M31214V |
probably null |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Ugt2b5 |
T |
C |
5: 87,276,209 (GRCm39) |
Y355C |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,383,436 (GRCm39) |
T1031K |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,500 (GRCm39) |
|
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,771 (GRCm39) |
I645T |
probably damaging |
Het |
| Vps18 |
T |
C |
2: 119,124,132 (GRCm39) |
V353A |
possibly damaging |
Het |
| Vwf |
C |
T |
6: 125,576,326 (GRCm39) |
Q469* |
probably null |
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 |
|
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 |
|
R8061:Pde2a
|
UTSW |
7 |
101,153,179 (GRCm39) |
missense |
probably benign |
0.29 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation