Incidental Mutation 'IGL02479:Pde2a'
ID |
295130 |
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 # |
IGL02479
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101150290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 243
(Y243C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210364]
[ENSMUST00000211368]
|
AlphaFold |
Q922S4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084894
AA Change: Y243C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000081956 Gene: ENSMUSG00000030653 AA Change: Y243C
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: Y217C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131553 Gene: ENSMUSG00000110195 AA Change: Y217C
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 damaging
Transcript: ENSMUST00000166652
AA Change: Y217C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127521 Gene: ENSMUSG00000110195 AA Change: Y217C
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 |
noncoding transcript
Transcript: ENSMUST00000209315
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209537
AA Change: Y227C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211051
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211368
AA Change: Y217C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
T |
C |
5: 121,639,461 (GRCm39) |
Y528C |
probably damaging |
Het |
Adam24 |
T |
A |
8: 41,132,571 (GRCm39) |
I13N |
probably benign |
Het |
Arsj |
T |
C |
3: 126,232,588 (GRCm39) |
S445P |
possibly damaging |
Het |
Btf3l4 |
G |
A |
4: 108,683,373 (GRCm39) |
T31I |
possibly damaging |
Het |
Cask |
A |
T |
X: 13,423,297 (GRCm39) |
D502E |
probably damaging |
Het |
Cenpl |
T |
A |
1: 160,910,637 (GRCm39) |
S195T |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,528,107 (GRCm39) |
I545N |
probably damaging |
Het |
Clrn2 |
T |
C |
5: 45,621,254 (GRCm39) |
I216T |
probably benign |
Het |
Csf2rb |
C |
T |
15: 78,225,924 (GRCm39) |
Q332* |
probably null |
Het |
Cyp3a44 |
T |
C |
5: 145,727,477 (GRCm39) |
D284G |
probably benign |
Het |
Dgka |
T |
C |
10: 128,566,115 (GRCm39) |
E345G |
probably benign |
Het |
Dync1i2 |
G |
A |
2: 71,066,323 (GRCm39) |
V128I |
probably damaging |
Het |
Eno3 |
T |
A |
11: 70,551,714 (GRCm39) |
|
probably benign |
Het |
Epc2 |
T |
A |
2: 49,422,147 (GRCm39) |
I347K |
probably benign |
Het |
F8 |
A |
T |
X: 74,331,846 (GRCm39) |
N681K |
probably damaging |
Het |
Fancm |
T |
A |
12: 65,153,259 (GRCm39) |
D1238E |
probably damaging |
Het |
Fcna |
T |
A |
2: 25,515,272 (GRCm39) |
Q237L |
probably benign |
Het |
Fpr2 |
A |
T |
17: 18,113,074 (GRCm39) |
R23S |
probably benign |
Het |
Frmd3 |
A |
G |
4: 74,105,752 (GRCm39) |
D466G |
probably benign |
Het |
Gen1 |
C |
A |
12: 11,291,936 (GRCm39) |
V618L |
probably benign |
Het |
Gja4 |
T |
C |
4: 127,206,217 (GRCm39) |
E182G |
probably benign |
Het |
Gsdmc |
T |
A |
15: 63,649,824 (GRCm39) |
I356F |
possibly damaging |
Het |
Kctd19 |
T |
C |
8: 106,111,400 (GRCm39) |
D102G |
probably damaging |
Het |
Lrit2 |
T |
C |
14: 36,794,235 (GRCm39) |
L433P |
probably damaging |
Het |
Lrp2 |
G |
A |
2: 69,295,145 (GRCm39) |
|
probably benign |
Het |
Luc7l3 |
G |
A |
11: 94,187,735 (GRCm39) |
|
probably benign |
Het |
Map3k5 |
T |
A |
10: 19,932,230 (GRCm39) |
L458Q |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,878,545 (GRCm39) |
S1038P |
probably damaging |
Het |
Med12 |
A |
T |
X: 100,340,598 (GRCm39) |
|
probably benign |
Het |
Mtor |
T |
A |
4: 148,555,041 (GRCm39) |
L888M |
probably damaging |
Het |
Nova1 |
A |
T |
12: 46,863,701 (GRCm39) |
I83N |
unknown |
Het |
Obscn |
A |
G |
11: 58,947,053 (GRCm39) |
|
probably benign |
Het |
Or11q2 |
T |
C |
X: 48,772,742 (GRCm39) |
V121A |
probably benign |
Het |
Or4d10c |
T |
A |
19: 12,065,269 (GRCm39) |
M296L |
probably benign |
Het |
Or4f15 |
A |
C |
2: 111,813,730 (GRCm39) |
S230A |
probably benign |
Het |
Or6k2 |
C |
A |
1: 173,986,520 (GRCm39) |
Y60* |
probably null |
Het |
Pdzd8 |
T |
A |
19: 59,288,215 (GRCm39) |
K1062* |
probably null |
Het |
Phc1 |
A |
T |
6: 122,300,676 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
T |
A |
6: 139,863,730 (GRCm39) |
S764T |
probably benign |
Het |
Pmp2 |
T |
G |
3: 10,247,262 (GRCm39) |
R89S |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,861,499 (GRCm39) |
L597P |
probably damaging |
Het |
Rfx6 |
T |
A |
10: 51,554,424 (GRCm39) |
D88E |
probably benign |
Het |
Rgs9 |
T |
C |
11: 109,116,478 (GRCm39) |
S442G |
possibly damaging |
Het |
Ror2 |
C |
T |
13: 53,285,968 (GRCm39) |
R82Q |
possibly damaging |
Het |
Sez6 |
C |
A |
11: 77,868,852 (GRCm39) |
A986E |
possibly damaging |
Het |
Slc5a5 |
T |
A |
8: 71,341,555 (GRCm39) |
M325L |
possibly damaging |
Het |
Slx9 |
T |
C |
10: 77,350,161 (GRCm39) |
S76G |
probably damaging |
Het |
Sppl2c |
G |
A |
11: 104,077,763 (GRCm39) |
V188I |
probably benign |
Het |
Srrm3 |
G |
T |
5: 135,864,103 (GRCm39) |
C67F |
probably damaging |
Het |
Stk31 |
A |
G |
6: 49,398,622 (GRCm39) |
E341G |
probably damaging |
Het |
Svil |
A |
T |
18: 5,099,476 (GRCm39) |
M1267L |
probably damaging |
Het |
Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
Trav8d-1 |
T |
C |
14: 53,016,257 (GRCm39) |
S48P |
probably benign |
Het |
Vrk1 |
A |
T |
12: 106,017,261 (GRCm39) |
Q95L |
probably benign |
Het |
Wdr25 |
C |
A |
12: 108,864,527 (GRCm39) |
T224K |
probably benign |
Het |
Wdr37 |
A |
T |
13: 8,892,820 (GRCm39) |
H224Q |
probably damaging |
Het |
Zhx1 |
C |
T |
15: 57,917,767 (GRCm39) |
E160K |
probably damaging |
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 |
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 |
2015-04-16 |