Incidental Mutation 'IGL01646:Pde2a'
| ID |
102651 |
| 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: 0.807)
|
| Stock # |
IGL01646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101156918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 628
(I628T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131553
(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: I650T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: I650T
| 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 |
possibly damaging
Transcript: ENSMUST00000163751
AA Change: I628T
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: I628T
| 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: I624T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: I624T
| 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 |
possibly damaging
Transcript: ENSMUST00000209537
AA Change: I634T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211051
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211368
AA Change: I624T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
C |
T |
4: 63,066,977 (GRCm39) |
V188I |
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,582,221 (GRCm39) |
E638* |
probably null |
Het |
| Bmp6 |
A |
G |
13: 38,682,904 (GRCm39) |
M465V |
probably damaging |
Het |
| Ccdc192 |
T |
A |
18: 57,800,417 (GRCm39) |
C171* |
probably null |
Het |
| Cemip |
T |
C |
7: 83,632,440 (GRCm39) |
E374G |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,895,141 (GRCm39) |
Y200* |
probably null |
Het |
| Cox6b1 |
G |
T |
7: 30,323,929 (GRCm39) |
Y34* |
probably null |
Het |
| Cyp2d26 |
A |
C |
15: 82,675,619 (GRCm39) |
I303M |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,026,469 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
T |
C |
5: 104,359,731 (GRCm39) |
S136P |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,832,877 (GRCm39) |
T241A |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,814,291 (GRCm39) |
T25K |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,906,007 (GRCm39) |
E3137G |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,179,844 (GRCm39) |
|
probably null |
Het |
| Gldc |
T |
G |
19: 30,078,165 (GRCm39) |
D944A |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,689,267 (GRCm39) |
Y546C |
probably damaging |
Het |
| Igkv1-122 |
G |
A |
6: 67,993,728 (GRCm39) |
M1I |
probably null |
Het |
| Jag2 |
G |
A |
12: 112,879,969 (GRCm39) |
P380S |
possibly damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,108,311 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
C |
9: 44,736,781 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,022,333 (GRCm39) |
V286A |
probably damaging |
Het |
| Mllt10 |
C |
A |
2: 18,127,128 (GRCm39) |
H82N |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,039,639 (GRCm39) |
R837L |
probably damaging |
Het |
| Nsg1 |
C |
A |
5: 38,313,035 (GRCm39) |
D55Y |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,617,247 (GRCm39) |
R221M |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,837,583 (GRCm39) |
A1213D |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,885,665 (GRCm39) |
G174S |
probably damaging |
Het |
| Papss2 |
C |
T |
19: 32,629,482 (GRCm39) |
A357V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,881 (GRCm39) |
K4118R |
unknown |
Het |
| Pla2r1 |
A |
G |
2: 60,325,708 (GRCm39) |
W521R |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,153,813 (GRCm39) |
Q744L |
probably damaging |
Het |
| Pnpo |
T |
A |
11: 96,829,775 (GRCm39) |
E251V |
possibly damaging |
Het |
| Rdh10 |
C |
T |
1: 16,178,246 (GRCm39) |
H173Y |
possibly damaging |
Het |
| Sgpp2 |
A |
T |
1: 78,393,533 (GRCm39) |
I179F |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,423,899 (GRCm39) |
P409L |
probably damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,135,364 (GRCm39) |
N316I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,064,148 (GRCm39) |
I712V |
probably benign |
Het |
| Spr |
T |
C |
6: 85,111,222 (GRCm39) |
D216G |
possibly damaging |
Het |
| Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
T |
C |
6: 132,732,332 (GRCm39) |
S214P |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,549,936 (GRCm39) |
S233T |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,269,279 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,337 (GRCm39) |
F317S |
probably benign |
Het |
| Vmn2r99 |
C |
A |
17: 19,613,920 (GRCm39) |
|
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,331 (GRCm39) |
E156G |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation