Incidental Mutation 'R8297:Pde2a'
| ID |
639019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
067853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R8297 (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 A
at 101153880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 487
(Y487N)
|
| 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: Y509N
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: Y509N
| 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: Y487N
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: Y487N
| 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: Y483N
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: Y483N
| 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: Y493N
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211368
AA Change: Y483N
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.6386 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
T |
C |
10: 21,497,578 (GRCm39) |
L73P |
probably damaging |
Het |
| 4933412E24Rik |
T |
G |
15: 59,887,524 (GRCm39) |
R305S |
probably damaging |
Het |
| Adamts19 |
T |
A |
18: 58,970,920 (GRCm39) |
V168E |
probably damaging |
Het |
| Ankrd34b |
T |
A |
13: 92,576,097 (GRCm39) |
L443Q |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,491,616 (GRCm39) |
Y887H |
probably damaging |
Het |
| Arhgef2 |
A |
T |
3: 88,546,739 (GRCm39) |
H553L |
probably benign |
Het |
| Atxn1 |
G |
T |
13: 45,720,505 (GRCm39) |
N463K |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,932,099 (GRCm39) |
|
probably null |
Het |
| C4bp |
A |
G |
1: 130,564,482 (GRCm39) |
S401P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,697,609 (GRCm39) |
R457W |
probably damaging |
Het |
| Chek2 |
T |
G |
5: 110,996,302 (GRCm39) |
Y127D |
probably damaging |
Het |
| Clec4a1 |
G |
A |
6: 122,898,960 (GRCm39) |
V10M |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
| Cops2 |
T |
C |
2: 125,701,028 (GRCm39) |
|
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,679,929 (GRCm39) |
F122S |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,998,689 (GRCm39) |
L548H |
unknown |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dsg1a |
A |
C |
18: 20,465,090 (GRCm39) |
N427T |
probably benign |
Het |
| Ear14 |
A |
T |
14: 51,441,564 (GRCm39) |
D140V |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,483,547 (GRCm39) |
F154C |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,507,321 (GRCm39) |
V12M |
probably damaging |
Het |
| Fbxo40 |
G |
A |
16: 36,789,670 (GRCm39) |
T480I |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,001,048 (GRCm39) |
Y322N |
probably damaging |
Het |
| Gca |
T |
C |
2: 62,516,700 (GRCm39) |
M132T |
probably benign |
Het |
| Ifi203 |
T |
G |
1: 173,765,496 (GRCm39) |
K26T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,562,116 (GRCm39) |
R668G |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,638 (GRCm39) |
I1185T |
unknown |
Het |
| Kcnj13 |
A |
T |
1: 87,314,189 (GRCm39) |
N344K |
probably damaging |
Het |
| Kdm5a |
A |
T |
6: 120,358,516 (GRCm39) |
L186F |
probably benign |
Het |
| Klhl8 |
T |
C |
5: 104,010,954 (GRCm39) |
N624D |
probably benign |
Het |
| Klrb1 |
G |
T |
6: 128,689,222 (GRCm39) |
T83K |
possibly damaging |
Het |
| Krt77 |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
15: 101,768,407 (GRCm39) |
|
probably benign |
Het |
| Ltb |
G |
T |
17: 35,413,655 (GRCm39) |
R53L |
probably benign |
Het |
| Mterf3 |
A |
G |
13: 67,055,222 (GRCm39) |
V69A |
|
Het |
| Mvb12a |
A |
G |
8: 71,997,888 (GRCm39) |
K101E |
probably damaging |
Het |
| Nbeal2 |
T |
A |
9: 110,464,409 (GRCm39) |
Q1110L |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,198,775 (GRCm39) |
T389S |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 23,173,069 (GRCm39) |
F11L |
probably damaging |
Het |
| Or10p22 |
T |
C |
10: 128,826,708 (GRCm39) |
L309P |
possibly damaging |
Het |
| Or2a54 |
A |
G |
6: 43,093,440 (GRCm39) |
I255V |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
| Or52e8b |
C |
T |
7: 104,673,885 (GRCm39) |
G97R |
probably benign |
Het |
| Pde4a |
C |
T |
9: 21,077,404 (GRCm39) |
P61S |
possibly damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
| Prr5l |
A |
G |
2: 101,571,630 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
G |
A |
6: 124,705,614 (GRCm39) |
T179I |
possibly damaging |
Het |
| Ralyl |
T |
C |
3: 14,104,836 (GRCm39) |
S34P |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Robo2 |
A |
T |
16: 73,812,814 (GRCm39) |
C293* |
probably null |
Het |
| Rtn4 |
T |
G |
11: 29,655,536 (GRCm39) |
D169E |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,122,506 (GRCm39) |
V157E |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,034,283 (GRCm39) |
T498A |
probably benign |
Het |
| Tgm6 |
G |
A |
2: 129,979,358 (GRCm39) |
V163I |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,582,302 (GRCm39) |
C187S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,616,485 (GRCm39) |
|
probably null |
Het |
| Tut4 |
G |
A |
4: 108,336,905 (GRCm39) |
A210T |
possibly damaging |
Het |
| Vangl2 |
C |
A |
1: 171,837,513 (GRCm39) |
V99F |
possibly damaging |
Het |
| Vmn1r167 |
C |
T |
7: 23,204,215 (GRCm39) |
C267Y |
probably damaging |
Het |
| Vsig10l |
T |
C |
7: 43,113,531 (GRCm39) |
V161A |
possibly damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,364,244 (GRCm39) |
R232Q |
possibly damaging |
Het |
| Xrcc6 |
C |
G |
15: 81,913,463 (GRCm39) |
F365L |
probably damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,465,257 (GRCm39) |
Y389C |
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 |
|
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 |
|
|
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'- TGCTGGATCAGAACGAGCTG -3'
(R):5'- TGGCTCTTTAGGTTCCGACC -3'
Sequencing Primer
(F):5'- CCTGGGGGAAAAGCCACATTTG -3'
(R):5'- GGTTCCGACCCTAGAACCACTTTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation