Incidental Mutation 'IGL02725:Pde2a'
ID |
305174 |
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 # |
IGL02725
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 101156425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 616
(M616I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210364]
[ENSMUST00000211368]
|
AlphaFold |
Q922S4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084894
AA Change: M638I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000081956 Gene: ENSMUSG00000030653 AA Change: M638I
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 null
Transcript: ENSMUST00000163751
AA Change: M616I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000131553 Gene: ENSMUSG00000110195 AA Change: M616I
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 null
Transcript: ENSMUST00000166652
AA Change: M612I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127521 Gene: ENSMUSG00000110195 AA Change: M612I
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 null
Transcript: ENSMUST00000209537
AA Change: M622I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211368
AA Change: M612I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211051
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
C |
13: 119,611,445 (GRCm39) |
I414T |
possibly damaging |
Het |
Agpat3 |
A |
C |
10: 78,113,889 (GRCm39) |
D266E |
probably benign |
Het |
Alpk3 |
G |
T |
7: 80,743,358 (GRCm39) |
Q1058H |
possibly damaging |
Het |
Atat1 |
A |
T |
17: 36,220,381 (GRCm39) |
V37E |
probably benign |
Het |
Bcl6b |
A |
G |
11: 70,119,344 (GRCm39) |
V124A |
probably damaging |
Het |
Bmt2 |
T |
C |
6: 13,628,495 (GRCm39) |
E396G |
probably damaging |
Het |
Ccdc50 |
T |
C |
16: 27,255,347 (GRCm39) |
C237R |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,778,312 (GRCm39) |
I2790M |
possibly damaging |
Het |
Chkb |
A |
G |
15: 89,313,340 (GRCm39) |
L82P |
probably damaging |
Het |
Cit |
T |
C |
5: 116,123,532 (GRCm39) |
Y1458H |
probably benign |
Het |
Clp1 |
T |
A |
2: 84,554,208 (GRCm39) |
K320N |
probably benign |
Het |
Cry2 |
T |
C |
2: 92,243,605 (GRCm39) |
|
probably benign |
Het |
Cyp20a1 |
C |
T |
1: 60,405,865 (GRCm39) |
R220W |
probably benign |
Het |
Cyp27a1 |
C |
T |
1: 74,774,862 (GRCm39) |
P268S |
probably damaging |
Het |
Cyp2e1 |
T |
G |
7: 140,343,828 (GRCm39) |
I22S |
probably null |
Het |
Defb34 |
A |
G |
8: 19,173,774 (GRCm39) |
T3A |
unknown |
Het |
Dpy19l3 |
A |
T |
7: 35,411,343 (GRCm39) |
M422K |
probably benign |
Het |
Eif4g3 |
A |
T |
4: 137,897,782 (GRCm39) |
|
probably benign |
Het |
Elmod3 |
A |
G |
6: 72,571,758 (GRCm39) |
S7P |
probably damaging |
Het |
Fam151a |
T |
G |
4: 106,605,211 (GRCm39) |
S524R |
probably damaging |
Het |
Gcc1 |
A |
T |
6: 28,418,458 (GRCm39) |
V625E |
probably benign |
Het |
Glmn |
G |
A |
5: 107,723,155 (GRCm39) |
P112S |
possibly damaging |
Het |
Grm5 |
A |
C |
7: 87,723,873 (GRCm39) |
D721A |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,953,019 (GRCm39) |
V445A |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,480,654 (GRCm39) |
E4507D |
possibly damaging |
Het |
Hmcn2 |
A |
C |
2: 31,295,540 (GRCm39) |
E2583A |
probably damaging |
Het |
Ifnb1 |
T |
A |
4: 88,440,867 (GRCm39) |
I49F |
probably benign |
Het |
Ints8 |
A |
C |
4: 11,239,406 (GRCm39) |
C306W |
probably benign |
Het |
Jakmip2 |
A |
G |
18: 43,695,655 (GRCm39) |
S540P |
probably damaging |
Het |
Kctd1 |
A |
G |
18: 15,102,667 (GRCm39) |
V838A |
possibly damaging |
Het |
Klk10 |
T |
C |
7: 43,431,044 (GRCm39) |
L29P |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,935,412 (GRCm39) |
I3627K |
probably damaging |
Het |
Maml3 |
A |
G |
3: 52,011,195 (GRCm39) |
S124P |
probably damaging |
Het |
Nav2 |
A |
T |
7: 49,214,843 (GRCm39) |
K1632I |
probably damaging |
Het |
Or2ab1 |
T |
C |
11: 58,488,690 (GRCm39) |
V156A |
probably benign |
Het |
Pdia2 |
T |
C |
17: 26,415,506 (GRCm39) |
D440G |
probably benign |
Het |
Rab11fip5 |
A |
G |
6: 85,351,471 (GRCm39) |
S14P |
probably damaging |
Het |
Rhpn2 |
T |
C |
7: 35,079,031 (GRCm39) |
S383P |
probably damaging |
Het |
Rnf220 |
A |
G |
4: 117,129,576 (GRCm39) |
|
probably benign |
Het |
Rnf43 |
A |
G |
11: 87,622,411 (GRCm39) |
D504G |
probably damaging |
Het |
Setbp1 |
A |
T |
18: 78,900,589 (GRCm39) |
L1026* |
probably null |
Het |
Slc1a4 |
A |
T |
11: 20,258,408 (GRCm39) |
S264T |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Sptan1 |
T |
C |
2: 29,886,055 (GRCm39) |
I739T |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stat5b |
A |
T |
11: 100,695,840 (GRCm39) |
D47E |
possibly damaging |
Het |
Taar7b |
A |
T |
10: 23,875,961 (GRCm39) |
Y42F |
probably benign |
Het |
Tfdp2 |
T |
A |
9: 96,169,748 (GRCm39) |
I33K |
possibly damaging |
Het |
Tm4sf5 |
A |
G |
11: 70,401,448 (GRCm39) |
H149R |
probably benign |
Het |
Tmco6 |
A |
G |
18: 36,871,760 (GRCm39) |
M257V |
probably benign |
Het |
Tuba8 |
G |
T |
6: 121,202,916 (GRCm39) |
G410* |
probably null |
Het |
Ubd |
T |
A |
17: 37,504,853 (GRCm39) |
V4D |
probably benign |
Het |
Ugt2b34 |
C |
T |
5: 87,054,284 (GRCm39) |
V166I |
probably benign |
Het |
Vmn2r70 |
C |
T |
7: 85,214,553 (GRCm39) |
V200I |
possibly damaging |
Het |
Wdcp |
A |
T |
12: 4,901,206 (GRCm39) |
N354I |
probably damaging |
Het |
Wipi2 |
A |
T |
5: 142,652,618 (GRCm39) |
Y410F |
possibly damaging |
Het |
Zc3hav1 |
G |
T |
6: 38,309,127 (GRCm39) |
P565Q |
probably damaging |
Het |
Zfp398 |
T |
C |
6: 47,842,737 (GRCm39) |
V131A |
probably benign |
Het |
Zkscan3 |
T |
C |
13: 21,579,063 (GRCm39) |
D144G |
possibly damaging |
Het |
Zpbp |
T |
A |
11: 11,412,358 (GRCm39) |
|
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 |
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 |