Incidental Mutation 'IGL02318:Pde2a'
ID |
288122 |
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 # |
IGL02318
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101152550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 371
(Y371F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210364]
[ENSMUST00000211368]
|
AlphaFold |
Q922S4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084894
AA Change: Y393F
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000081956 Gene: ENSMUSG00000030653 AA Change: Y393F
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: Y371F
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131553 Gene: ENSMUSG00000110195 AA Change: Y371F
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
AA Change: Y367F
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000127521 Gene: ENSMUSG00000110195 AA Change: Y367F
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 benign
Transcript: ENSMUST00000209537
AA Change: Y377F
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211051
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211368
AA Change: Y367F
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
A |
G |
5: 138,561,838 (GRCm39) |
F116S |
probably damaging |
Het |
Abhd18 |
G |
A |
3: 40,884,662 (GRCm39) |
|
probably null |
Het |
Akr1c6 |
G |
T |
13: 4,488,496 (GRCm39) |
C34F |
probably benign |
Het |
Ankef1 |
T |
A |
2: 136,386,695 (GRCm39) |
I180N |
possibly damaging |
Het |
Ap1b1 |
G |
A |
11: 4,969,294 (GRCm39) |
V217I |
probably benign |
Het |
Arhgap27 |
T |
C |
11: 103,223,989 (GRCm39) |
Q608R |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,170,627 (GRCm39) |
T1136A |
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,604,250 (GRCm39) |
Y1323* |
probably null |
Het |
Bsx |
A |
C |
9: 40,785,517 (GRCm39) |
Q15P |
probably benign |
Het |
Cdh20 |
A |
G |
1: 104,881,764 (GRCm39) |
I410V |
probably null |
Het |
Cfhr4 |
T |
A |
1: 139,708,835 (GRCm39) |
E24D |
probably benign |
Het |
Col20a1 |
A |
G |
2: 180,648,952 (GRCm39) |
D945G |
probably damaging |
Het |
Cox20 |
A |
G |
1: 178,150,043 (GRCm39) |
|
probably null |
Het |
Cplane1 |
A |
G |
15: 8,204,509 (GRCm39) |
K96E |
probably damaging |
Het |
Cpne9 |
A |
G |
6: 113,270,699 (GRCm39) |
D305G |
possibly damaging |
Het |
Cyp2d12 |
A |
G |
15: 82,439,444 (GRCm39) |
T33A |
probably benign |
Het |
Dvl3 |
A |
G |
16: 20,342,493 (GRCm39) |
R149G |
possibly damaging |
Het |
Dysf |
A |
G |
6: 84,163,446 (GRCm39) |
I1624V |
possibly damaging |
Het |
Echs1 |
A |
T |
7: 139,691,623 (GRCm39) |
L167Q |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,192,868 (GRCm39) |
N358K |
probably benign |
Het |
Eml4 |
A |
G |
17: 83,748,795 (GRCm39) |
I230V |
probably benign |
Het |
Fut10 |
A |
G |
8: 31,726,286 (GRCm39) |
Y347C |
probably damaging |
Het |
Gfm2 |
C |
A |
13: 97,299,483 (GRCm39) |
N401K |
probably damaging |
Het |
Gm4795 |
C |
T |
10: 44,882,735 (GRCm39) |
|
noncoding transcript |
Het |
Gm5592 |
C |
A |
7: 40,936,212 (GRCm39) |
T238N |
probably benign |
Het |
Gm9892 |
T |
C |
8: 52,649,260 (GRCm39) |
|
noncoding transcript |
Het |
Greb1l |
G |
T |
18: 10,469,388 (GRCm39) |
M134I |
possibly damaging |
Het |
Grk3 |
A |
G |
5: 113,085,669 (GRCm39) |
Y314H |
probably damaging |
Het |
Hrh2 |
T |
C |
13: 54,368,669 (GRCm39) |
I215T |
probably damaging |
Het |
Ilkap |
A |
G |
1: 91,312,960 (GRCm39) |
|
probably null |
Het |
Inpp4a |
T |
C |
1: 37,407,384 (GRCm39) |
Y233H |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Lmo7 |
C |
T |
14: 102,137,502 (GRCm39) |
|
probably benign |
Het |
Luc7l3 |
C |
T |
11: 94,183,819 (GRCm39) |
R440Q |
probably benign |
Het |
Mis18bp1 |
A |
C |
12: 65,205,515 (GRCm39) |
I219S |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,806,768 (GRCm39) |
E1581K |
probably damaging |
Het |
Nfs1 |
T |
A |
2: 155,966,191 (GRCm39) |
Q458L |
probably damaging |
Het |
Numb |
A |
T |
12: 83,878,692 (GRCm39) |
|
probably null |
Het |
Nxf1 |
G |
A |
19: 8,741,514 (GRCm39) |
|
probably null |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or52z1 |
A |
G |
7: 103,437,475 (GRCm39) |
V3A |
probably benign |
Het |
Pacc1 |
A |
G |
1: 191,080,605 (GRCm39) |
E275G |
possibly damaging |
Het |
Phlpp2 |
G |
T |
8: 110,666,505 (GRCm39) |
L1011F |
probably benign |
Het |
Potefam3e |
T |
C |
8: 19,797,815 (GRCm39) |
|
probably null |
Het |
Prss27 |
G |
T |
17: 24,264,571 (GRCm39) |
V245L |
probably benign |
Het |
Rbm7 |
T |
C |
9: 48,405,411 (GRCm39) |
N56S |
probably damaging |
Het |
Rftn1 |
T |
C |
17: 50,343,998 (GRCm39) |
I97V |
possibly damaging |
Het |
Ric3 |
T |
C |
7: 108,647,287 (GRCm39) |
T178A |
probably damaging |
Het |
Rock1 |
A |
G |
18: 10,104,323 (GRCm39) |
|
probably benign |
Het |
Sall2 |
T |
C |
14: 52,553,022 (GRCm39) |
T56A |
probably damaging |
Het |
Sgk1 |
T |
C |
10: 21,871,440 (GRCm39) |
S60P |
probably damaging |
Het |
Smarcad1 |
G |
A |
6: 65,050,223 (GRCm39) |
A281T |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,002,029 (GRCm39) |
H53R |
possibly damaging |
Het |
Thbs4 |
T |
C |
13: 92,900,092 (GRCm39) |
D468G |
probably damaging |
Het |
Tmem108 |
A |
T |
9: 103,376,981 (GRCm39) |
V156E |
probably benign |
Het |
Tnfaip3 |
T |
G |
10: 18,880,215 (GRCm39) |
R617S |
probably benign |
Het |
Traf3 |
A |
G |
12: 111,204,031 (GRCm39) |
M7V |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,809,741 (GRCm39) |
I1237N |
probably damaging |
Het |
Vmn2r23 |
T |
C |
6: 123,718,795 (GRCm39) |
V716A |
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 |
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 |
2015-04-16 |