Incidental Mutation 'R6083:Pde2a'
| ID |
482306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
044242-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R6083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101152086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 331
(I331T)
|
| 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: I357T
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: I357T
| 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: I331T
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: I331T
| 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: I331T
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: I331T
| 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: I341T
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211051
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211368
AA Change: I331T
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1312 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (76/79) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
A |
11: 58,769,677 (GRCm39) |
P73Q |
possibly damaging |
Het |
| Aak1 |
A |
T |
6: 86,940,978 (GRCm39) |
I591F |
unknown |
Het |
| Ace |
C |
A |
11: 105,876,093 (GRCm39) |
Y816* |
probably null |
Het |
| Ahnak2 |
A |
G |
12: 112,746,715 (GRCm39) |
V1205A |
probably benign |
Het |
| Ahnak2 |
T |
G |
12: 112,746,589 (GRCm39) |
Q1076P |
probably benign |
Het |
| Ap2a1 |
G |
A |
7: 44,557,175 (GRCm39) |
R263W |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,786,397 (GRCm39) |
T257A |
probably benign |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Ccdc17 |
A |
T |
4: 116,454,123 (GRCm39) |
Q47L |
possibly damaging |
Het |
| Cep170 |
C |
T |
1: 176,602,191 (GRCm39) |
R305H |
probably damaging |
Het |
| Cyb5r4 |
C |
T |
9: 86,939,221 (GRCm39) |
P335S |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,062,206 (GRCm39) |
L17P |
probably benign |
Het |
| Cyp2c69 |
A |
T |
19: 39,837,900 (GRCm39) |
V394E |
probably damaging |
Het |
| Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
| Defb36 |
A |
T |
2: 152,446,408 (GRCm39) |
M1L |
unknown |
Het |
| Dnaja1 |
A |
G |
4: 40,731,713 (GRCm39) |
D263G |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,510,148 (GRCm39) |
N1560S |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,672,328 (GRCm39) |
|
probably null |
Het |
| Eif3e |
A |
G |
15: 43,129,540 (GRCm39) |
I196T |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,927,903 (GRCm39) |
C24* |
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,194,648 (GRCm39) |
E116G |
unknown |
Het |
| Gnas |
A |
G |
2: 174,139,655 (GRCm39) |
M1V |
probably null |
Het |
| Grin2a |
C |
A |
16: 9,397,404 (GRCm39) |
M894I |
probably benign |
Het |
| Herc2 |
G |
T |
7: 55,878,253 (GRCm39) |
S4566I |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,631,044 (GRCm39) |
P918L |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,631,045 (GRCm39) |
P918T |
probably damaging |
Het |
| Hsd3b2 |
T |
A |
3: 98,619,372 (GRCm39) |
Y191F |
possibly damaging |
Het |
| Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,113,705 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,649,899 (GRCm39) |
L191P |
probably benign |
Het |
| Kdr |
T |
C |
5: 76,105,026 (GRCm39) |
K1068R |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,119,574 (GRCm39) |
L1345P |
probably damaging |
Het |
| Man2b2 |
T |
A |
5: 36,966,385 (GRCm39) |
D936V |
probably damaging |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,317 (GRCm39) |
R38* |
probably null |
Het |
| Med13l |
T |
C |
5: 118,859,551 (GRCm39) |
V246A |
possibly damaging |
Het |
| Mlec |
T |
A |
5: 115,286,108 (GRCm39) |
T248S |
probably benign |
Het |
| Mslnl |
T |
A |
17: 25,956,876 (GRCm39) |
V54D |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,568,508 (GRCm39) |
T1337I |
unknown |
Het |
| Nek7 |
C |
T |
1: 138,443,392 (GRCm39) |
S187N |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,367,214 (GRCm39) |
V538A |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,579,202 (GRCm39) |
|
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,409,559 (GRCm39) |
K327E |
probably damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,472,789 (GRCm39) |
I221T |
probably damaging |
Het |
| Or3a1c |
A |
G |
11: 74,046,396 (GRCm39) |
M139V |
possibly damaging |
Het |
| Or4a72 |
T |
C |
2: 89,406,016 (GRCm39) |
D18G |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,368 (GRCm39) |
D82V |
probably damaging |
Het |
| Or5b109 |
A |
T |
19: 13,211,889 (GRCm39) |
I92F |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,478 (GRCm39) |
N676Y |
probably damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,281,399 (GRCm39) |
Y486* |
probably null |
Het |
| Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,939,646 (GRCm39) |
|
probably benign |
Het |
| Rgs19 |
T |
C |
2: 181,331,300 (GRCm39) |
E111G |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,160,066 (GRCm39) |
N145S |
probably damaging |
Het |
| Rnf4 |
T |
A |
5: 34,508,565 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
T |
C |
11: 75,205,737 (GRCm39) |
T207A |
probably damaging |
Het |
| Rufy4 |
A |
C |
1: 74,168,556 (GRCm39) |
Q113P |
probably damaging |
Het |
| Sh3pxd2b |
T |
G |
11: 32,372,985 (GRCm39) |
S717R |
probably benign |
Het |
| Sin3a |
A |
T |
9: 57,014,824 (GRCm39) |
I682F |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,212 (GRCm39) |
V842E |
possibly damaging |
Het |
| Slc5a4a |
A |
G |
10: 75,983,431 (GRCm39) |
I23V |
unknown |
Het |
| Slitrk5 |
A |
G |
14: 111,919,157 (GRCm39) |
N927S |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,326,354 (GRCm39) |
K117R |
possibly damaging |
Het |
| Sod2 |
G |
A |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
A |
G |
2: 32,686,030 (GRCm39) |
I567T |
possibly damaging |
Het |
| Tbkbp1 |
C |
A |
11: 97,038,206 (GRCm39) |
L209F |
probably damaging |
Het |
| Tll1 |
G |
T |
8: 64,491,620 (GRCm39) |
|
probably null |
Het |
| Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
| Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
| Trim30b |
A |
G |
7: 104,015,349 (GRCm39) |
V13A |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,856,001 (GRCm39) |
T425I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,720,317 (GRCm39) |
|
probably benign |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
A |
1: 187,999,220 (GRCm39) |
S177T |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,906,281 (GRCm39) |
S651R |
probably benign |
Het |
| Vmn1r125 |
T |
C |
7: 21,006,644 (GRCm39) |
S181P |
probably damaging |
Het |
| Vmn1r198 |
T |
A |
13: 22,538,928 (GRCm39) |
V138D |
possibly damaging |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,317 (GRCm39) |
L100P |
probably damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,467,209 (GRCm39) |
D773V |
probably benign |
Het |
| Vmn2r53 |
A |
C |
7: 12,315,808 (GRCm39) |
H670Q |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,711 (GRCm39) |
I809N |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,861,540 (GRCm39) |
G184D |
probably damaging |
Het |
| Wnk1 |
C |
T |
6: 120,014,562 (GRCm39) |
G11D |
probably damaging |
Het |
| Zfp110 |
A |
C |
7: 12,578,602 (GRCm39) |
E171A |
possibly damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,706,757 (GRCm39) |
V134A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGACCCAGACTTGGTGAC -3'
(R):5'- AAATGTGGGTTCCTCCTCAGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation