Incidental Mutation 'R4717:Pde2a'
| ID |
354132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
041984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R4717 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101143879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 166
(D166G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081956
(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: D166G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: D166G
| 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 benign
Transcript: ENSMUST00000163751
AA Change: D140G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: D140G
| 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: D140G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: D140G
| 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 benign
Transcript: ENSMUST00000209537
AA Change: D150G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211368
AA Change: D140G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211051
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
C |
10: 29,097,783 (GRCm39) |
L60P |
probably damaging |
Het |
| Acsf2 |
T |
G |
11: 94,450,372 (GRCm39) |
M512L |
probably benign |
Het |
| Ahrr |
T |
A |
13: 74,363,885 (GRCm39) |
H312L |
probably benign |
Het |
| Akr1c18 |
T |
C |
13: 4,186,717 (GRCm39) |
M244V |
probably benign |
Het |
| Aldh3b2 |
A |
G |
19: 4,031,128 (GRCm39) |
Y459C |
probably damaging |
Het |
| Arhgap29 |
A |
T |
3: 121,803,607 (GRCm39) |
I796L |
possibly damaging |
Het |
| Arrdc4 |
T |
A |
7: 68,391,406 (GRCm39) |
D287V |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 65,562,991 (GRCm39) |
I930N |
possibly damaging |
Het |
| Bace2 |
T |
A |
16: 97,238,073 (GRCm39) |
L508Q |
probably damaging |
Het |
| Baz2a |
G |
T |
10: 127,960,811 (GRCm39) |
C1537F |
possibly damaging |
Het |
| Cad |
A |
G |
5: 31,224,030 (GRCm39) |
|
probably null |
Het |
| Capn5 |
A |
T |
7: 97,773,126 (GRCm39) |
I626N |
probably benign |
Het |
| Car8 |
A |
T |
4: 8,169,685 (GRCm39) |
N274K |
probably damaging |
Het |
| Casp14 |
T |
C |
10: 78,550,958 (GRCm39) |
I76V |
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,882,925 (GRCm39) |
V1649A |
probably benign |
Het |
| Cemip |
A |
T |
7: 83,596,488 (GRCm39) |
I1092N |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,453,849 (GRCm39) |
N91D |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,656,574 (GRCm39) |
Y563H |
possibly damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,473,749 (GRCm39) |
V72A |
probably benign |
Het |
| Cyp46a1 |
T |
C |
12: 108,318,285 (GRCm39) |
|
probably null |
Het |
| Cyp4x1 |
T |
C |
4: 114,978,902 (GRCm39) |
H206R |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,874,476 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,290,888 (GRCm39) |
W76R |
probably damaging |
Het |
| Dhx29 |
G |
A |
13: 113,083,469 (GRCm39) |
R508H |
unknown |
Het |
| Dnah2 |
T |
C |
11: 69,320,183 (GRCm39) |
D3962G |
probably benign |
Het |
| Dnajc14 |
T |
A |
10: 128,642,113 (GRCm39) |
C12S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,449,899 (GRCm39) |
I804T |
probably damaging |
Het |
| Efs |
G |
T |
14: 55,157,801 (GRCm39) |
S170Y |
probably damaging |
Het |
| Eml4 |
G |
T |
17: 83,755,654 (GRCm39) |
W295C |
probably benign |
Het |
| Fkbp15 |
A |
G |
4: 62,226,306 (GRCm39) |
S748P |
probably damaging |
Het |
| Ghr |
T |
G |
15: 3,349,235 (GRCm39) |
I648L |
possibly damaging |
Het |
| Gigyf1 |
T |
A |
5: 137,523,494 (GRCm39) |
I942N |
probably damaging |
Het |
| Gpam |
T |
A |
19: 55,064,046 (GRCm39) |
E682D |
probably benign |
Het |
| Gsr |
A |
T |
8: 34,183,886 (GRCm39) |
K383* |
probably null |
Het |
| Hapln1 |
C |
A |
13: 89,753,579 (GRCm39) |
S248R |
probably benign |
Het |
| Haus2 |
G |
T |
2: 120,449,583 (GRCm39) |
R209L |
probably benign |
Het |
| Hhatl |
A |
G |
9: 121,618,943 (GRCm39) |
F63S |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,494,816 (GRCm39) |
M4091T |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,149,896 (GRCm39) |
D94G |
probably damaging |
Het |
| Irf6 |
T |
A |
1: 192,849,742 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
A |
10: 77,381,878 (GRCm39) |
L60* |
probably null |
Het |
| Jmjd1c |
C |
T |
10: 66,993,830 (GRCm39) |
Q104* |
probably null |
Het |
| Kcnh1 |
A |
G |
1: 191,959,025 (GRCm39) |
D193G |
probably damaging |
Het |
| Klhl25 |
G |
T |
7: 75,516,528 (GRCm39) |
C478F |
probably damaging |
Het |
| Klhl3 |
T |
C |
13: 58,178,330 (GRCm39) |
D267G |
probably damaging |
Het |
| L3mbtl4 |
T |
G |
17: 68,762,708 (GRCm39) |
H80Q |
probably null |
Het |
| Lhcgr |
C |
A |
17: 89,049,895 (GRCm39) |
V544F |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,985,633 (GRCm39) |
N168D |
probably benign |
Het |
| Mmp3 |
A |
G |
9: 7,449,881 (GRCm39) |
Q255R |
possibly damaging |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,000 (GRCm39) |
G184C |
probably benign |
Het |
| Mtpap |
C |
T |
18: 4,396,394 (GRCm39) |
A562V |
possibly damaging |
Het |
| Nid1 |
T |
C |
13: 13,681,086 (GRCm39) |
V1072A |
probably benign |
Het |
| Nsf |
T |
G |
11: 103,714,595 (GRCm39) |
K728T |
probably damaging |
Het |
| Or10ak7 |
T |
C |
4: 118,791,626 (GRCm39) |
N140D |
probably benign |
Het |
| Or12j3 |
T |
C |
7: 139,953,328 (GRCm39) |
N65S |
probably damaging |
Het |
| Or1e17 |
T |
A |
11: 73,831,641 (GRCm39) |
S190T |
possibly damaging |
Het |
| Or2a5 |
T |
C |
6: 42,874,158 (GRCm39) |
Y258H |
probably damaging |
Het |
| Or4k15b |
A |
T |
14: 50,272,821 (GRCm39) |
V13E |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,502,631 (GRCm39) |
C894S |
probably damaging |
Het |
| Pfpl |
G |
A |
19: 12,406,618 (GRCm39) |
E290K |
probably benign |
Het |
| Pi4kb |
A |
C |
3: 94,906,162 (GRCm39) |
I570L |
probably damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,041,622 (GRCm39) |
C1727* |
probably null |
Het |
| Poln |
A |
T |
5: 34,286,792 (GRCm39) |
D125E |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,011,412 (GRCm39) |
D259G |
possibly damaging |
Het |
| Prx |
A |
T |
7: 27,216,152 (GRCm39) |
M218L |
probably benign |
Het |
| Pxn |
A |
T |
5: 115,690,001 (GRCm39) |
Q342L |
probably damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,033,775 (GRCm39) |
D3G |
possibly damaging |
Het |
| Rnase2b |
C |
T |
14: 51,400,174 (GRCm39) |
T85I |
possibly damaging |
Het |
| Rnaseh2b |
C |
A |
14: 62,591,075 (GRCm39) |
T142K |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,450,304 (GRCm39) |
S4117P |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,745,195 (GRCm39) |
N700S |
probably damaging |
Het |
| Sec62 |
A |
C |
3: 30,864,020 (GRCm39) |
K101Q |
unknown |
Het |
| Sel1l2 |
A |
C |
2: 140,071,943 (GRCm39) |
L659R |
possibly damaging |
Het |
| Septin11 |
A |
G |
5: 93,304,815 (GRCm39) |
I211V |
possibly damaging |
Het |
| Slc25a42 |
C |
T |
8: 70,642,107 (GRCm39) |
E112K |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,708,609 (GRCm39) |
N119D |
probably benign |
Het |
| Themis |
G |
A |
10: 28,665,748 (GRCm39) |
E604K |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,414 (GRCm39) |
K150E |
probably damaging |
Het |
| Top6bl |
A |
G |
19: 4,675,901 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
G |
A |
4: 41,218,333 (GRCm39) |
T258I |
possibly damaging |
Het |
| Ushbp1 |
C |
T |
8: 71,838,313 (GRCm39) |
A664T |
probably damaging |
Het |
| Vmn1r1 |
T |
C |
1: 181,984,774 (GRCm39) |
N297S |
possibly damaging |
Het |
| Vmn1r173 |
A |
C |
7: 23,402,637 (GRCm39) |
I291L |
probably damaging |
Het |
| Yy1 |
A |
G |
12: 108,759,972 (GRCm39) |
I212V |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,149 (GRCm39) |
F527L |
probably damaging |
Het |
| Zyg11b |
T |
A |
4: 108,099,069 (GRCm39) |
H632L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCTGATGGAAGTGGGC -3'
(R):5'- TGGCAACAGGCACAAGCA -3'
Sequencing Primer
(F):5'- CTGATGGAAGTGGGCCCAAC -3'
(R):5'- TCAAGAAAGGCACTGTTGTCC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation