Incidental Mutation 'R7248:Pde2a'
| ID |
563678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
045311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R7248 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101152597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 393
(K393E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147553
(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: K409E
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: K409E
| 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: K387E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: K387E
| 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: K383E
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: K383E
| 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: K393E
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211368
AA Change: K383E
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
97% (75/77) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,207,959 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,439,907 (GRCm39) |
|
probably null |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,194 (GRCm39) |
T452A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,947,293 (GRCm39) |
E1119K |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,922,714 (GRCm39) |
E39D |
possibly damaging |
Het |
| Bud13 |
G |
T |
9: 46,194,413 (GRCm39) |
E29* |
probably null |
Het |
| Ccdc150 |
C |
T |
1: 54,344,057 (GRCm39) |
T530I |
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,803,199 (GRCm39) |
Q2160* |
probably null |
Het |
| Cluap1 |
T |
A |
16: 3,737,364 (GRCm39) |
I172N |
possibly damaging |
Het |
| Cnot2 |
T |
C |
10: 116,334,278 (GRCm39) |
N329S |
probably benign |
Het |
| Cog4 |
A |
T |
8: 111,608,834 (GRCm39) |
T175S |
unknown |
Het |
| Coq7 |
C |
A |
7: 118,128,897 (GRCm39) |
R46L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,145,198 (GRCm39) |
V1276E |
probably damaging |
Het |
| Dcaf15 |
A |
G |
8: 84,829,394 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ddr2 |
C |
T |
1: 169,822,198 (GRCm39) |
V417I |
probably benign |
Het |
| Defa25 |
G |
A |
8: 21,575,216 (GRCm39) |
C65Y |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,559 (GRCm39) |
T425A |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 38,022,829 (GRCm39) |
T782A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,181,245 (GRCm39) |
M1044K |
possibly damaging |
Het |
| Dusp16 |
G |
A |
6: 134,695,940 (GRCm39) |
T297M |
probably benign |
Het |
| Esyt2 |
A |
G |
12: 116,305,858 (GRCm39) |
N363D |
probably damaging |
Het |
| Fasl |
C |
T |
1: 161,615,760 (GRCm39) |
C32Y |
possibly damaging |
Het |
| Flg |
T |
C |
3: 93,189,041 (GRCm39) |
V137A |
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,080,086 (GRCm39) |
T224S |
probably benign |
Het |
| Gpr150 |
G |
A |
13: 76,204,126 (GRCm39) |
A273V |
probably benign |
Het |
| Grk5 |
A |
G |
19: 60,879,045 (GRCm39) |
T10A |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,006,909 (GRCm39) |
K1169R |
possibly damaging |
Het |
| Ido2 |
A |
C |
8: 25,030,657 (GRCm39) |
Y224* |
probably null |
Het |
| Ido2 |
A |
G |
8: 25,038,839 (GRCm39) |
I149T |
probably damaging |
Het |
| Iqca1l |
C |
T |
5: 24,749,269 (GRCm39) |
S743N |
probably benign |
Het |
| Kctd2 |
A |
G |
11: 115,312,845 (GRCm39) |
T126A |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,600,886 (GRCm39) |
S228P |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,969,305 (GRCm39) |
D1090G |
probably benign |
Het |
| Klrb1a |
A |
T |
6: 128,586,697 (GRCm39) |
H222Q |
possibly damaging |
Het |
| Kndc1 |
A |
C |
7: 139,500,699 (GRCm39) |
H688P |
probably damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,059,611 (GRCm39) |
V141F |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 16,106,722 (GRCm39) |
I1845V |
unknown |
Het |
| Mob3c |
G |
A |
4: 115,688,881 (GRCm39) |
R138H |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,723,209 (GRCm39) |
D394E |
possibly damaging |
Het |
| Myh7b |
A |
T |
2: 155,464,106 (GRCm39) |
I536F |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,548,589 (GRCm39) |
K1382* |
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,275,598 (GRCm39) |
K128R |
possibly damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,520 (GRCm39) |
N303D |
probably damaging |
Het |
| Ostn |
T |
A |
16: 27,165,719 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
G |
A |
19: 5,189,003 (GRCm39) |
T793I |
probably damaging |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,547 (GRCm39) |
S507P |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,825,423 (GRCm39) |
N656Y |
probably damaging |
Het |
| Phf20 |
T |
A |
2: 156,135,331 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
T |
1: 133,203,586 (GRCm39) |
E550* |
probably null |
Het |
| Plxna4 |
A |
T |
6: 32,139,095 (GRCm39) |
V1691E |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,472,123 (GRCm39) |
H1006Q |
probably damaging |
Het |
| Rfx4 |
C |
T |
10: 84,740,919 (GRCm39) |
P679L |
probably benign |
Het |
| Ripor2 |
A |
G |
13: 24,878,128 (GRCm39) |
H301R |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,871,877 (GRCm39) |
I469N |
possibly damaging |
Het |
| Serpinb6b |
A |
G |
13: 33,161,559 (GRCm39) |
T211A |
probably benign |
Het |
| Sf1 |
A |
T |
19: 6,426,383 (GRCm39) |
H547L |
unknown |
Het |
| Slc29a1 |
T |
C |
17: 45,903,108 (GRCm39) |
D9G |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,892,311 (GRCm39) |
M1075K |
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,176,741 (GRCm39) |
D474G |
probably damaging |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,087,870 (GRCm39) |
T1148A |
probably benign |
Het |
| Tmem116 |
A |
T |
5: 121,601,899 (GRCm39) |
|
probably null |
Het |
| Tmem158 |
A |
T |
9: 123,089,390 (GRCm39) |
I74N |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,743,432 (GRCm39) |
D174V |
probably benign |
Het |
| Trim65 |
A |
T |
11: 116,018,534 (GRCm39) |
I247N |
probably benign |
Het |
| Tsfm |
A |
T |
10: 126,847,500 (GRCm39) |
V197E |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,604,562 (GRCm39) |
C539R |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,655,406 (GRCm39) |
F1874Y |
probably benign |
Het |
| Wdr6 |
A |
G |
9: 108,453,238 (GRCm39) |
M215T |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zc3h7b |
A |
G |
15: 81,655,988 (GRCm39) |
D112G |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,330,911 (GRCm39) |
D83N |
probably benign |
Het |
| Zfp369 |
T |
A |
13: 65,443,931 (GRCm39) |
V358E |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,672,489 (GRCm39) |
C29* |
probably null |
Het |
| Zng1 |
A |
G |
19: 24,898,505 (GRCm39) |
S318P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGTAGCATGCAGGAAAG -3'
(R):5'- CGTGTTAGACACTAGAGGGC -3'
Sequencing Primer
(F):5'- TAGCATGCAGGAAAGGAGAAAG -3'
(R):5'- AGGGAAATACTGACCTCTCTCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation