Incidental Mutation 'R2259:Pde2a'
| ID |
243640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
040259-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R2259 (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 T
at 101133774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 85
(D85V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210092]
[ENSMUST00000211368]
[ENSMUST00000210364]
|
| AlphaFold |
Q922S4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084894
AA Change: D111V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: D111V
| 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: D85V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: D85V
| 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 damaging
Transcript: ENSMUST00000166652
AA Change: D85V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: D85V
| 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: ENSMUST00000209537
AA Change: D95V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210100
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211368
AA Change: D85V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
G |
5: 129,189,375 (GRCm39) |
S91A |
possibly damaging |
Het |
| Ankrd13b |
T |
G |
11: 77,367,168 (GRCm39) |
N247T |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,063,572 (GRCm39) |
D169G |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,080,440 (GRCm39) |
V239M |
probably damaging |
Het |
| Cflar |
C |
T |
1: 58,768,280 (GRCm39) |
T121I |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,552,142 (GRCm39) |
N180D |
possibly damaging |
Het |
| Cnbd2 |
T |
A |
2: 156,177,192 (GRCm39) |
I62N |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,258,651 (GRCm39) |
H8R |
probably benign |
Het |
| Cyp2a4 |
C |
T |
7: 26,008,460 (GRCm39) |
L201F |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,046,631 (GRCm39) |
L782Q |
probably damaging |
Het |
| Dctn1 |
C |
A |
6: 83,174,568 (GRCm39) |
H1065N |
possibly damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,662,841 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
T |
C |
11: 69,922,196 (GRCm39) |
I143T |
probably damaging |
Het |
| E2f7 |
T |
G |
10: 110,582,204 (GRCm39) |
N4K |
probably damaging |
Het |
| Eef2kmt |
C |
T |
16: 5,063,172 (GRCm39) |
V323I |
probably benign |
Het |
| Eif2ak4 |
A |
C |
2: 118,286,264 (GRCm39) |
I1017L |
probably damaging |
Het |
| Eln |
C |
A |
5: 134,758,508 (GRCm39) |
A126S |
unknown |
Het |
| Exoc7 |
T |
C |
11: 116,197,237 (GRCm39) |
S35G |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,124 (GRCm39) |
|
probably benign |
Het |
| Fkbp6 |
C |
T |
5: 135,366,468 (GRCm39) |
|
probably null |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Fmn2 |
T |
A |
1: 174,330,498 (GRCm39) |
L296H |
unknown |
Het |
| Galnt14 |
C |
A |
17: 73,801,261 (GRCm39) |
M520I |
probably benign |
Het |
| Gba2 |
A |
G |
4: 43,570,107 (GRCm39) |
C396R |
probably benign |
Het |
| Gigyf1 |
C |
A |
5: 137,518,594 (GRCm39) |
A215E |
possibly damaging |
Het |
| Glb1 |
C |
T |
9: 114,272,100 (GRCm39) |
Q246* |
probably null |
Het |
| Gm11565 |
T |
G |
11: 99,805,844 (GRCm39) |
C79G |
possibly damaging |
Het |
| Gpr160 |
A |
G |
3: 30,950,444 (GRCm39) |
Y172C |
probably damaging |
Het |
| Ift52 |
A |
G |
2: 162,870,013 (GRCm39) |
N159S |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,707,759 (GRCm39) |
D67G |
probably damaging |
Het |
| Insyn2a |
T |
A |
7: 134,519,396 (GRCm39) |
E378V |
probably damaging |
Het |
| Irf2 |
A |
G |
8: 47,290,868 (GRCm39) |
Y230C |
probably benign |
Het |
| Jmjd6 |
T |
C |
11: 116,732,140 (GRCm39) |
H187R |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,020,479 (GRCm39) |
G90S |
probably damaging |
Het |
| Kif7 |
C |
T |
7: 79,361,337 (GRCm39) |
G118D |
probably damaging |
Het |
| Klhl38 |
G |
C |
15: 58,178,374 (GRCm39) |
T532S |
possibly damaging |
Het |
| Kmt2a |
G |
T |
9: 44,792,440 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,907,123 (GRCm39) |
L2346S |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,978 (GRCm39) |
S34P |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,555,802 (GRCm39) |
V44A |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,344,745 (GRCm39) |
N72S |
probably benign |
Het |
| Myo7a |
T |
G |
7: 97,718,706 (GRCm39) |
D1388A |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,967,368 (GRCm39) |
D568G |
probably benign |
Het |
| Ncoa1 |
A |
C |
12: 4,365,819 (GRCm39) |
H82Q |
probably damaging |
Het |
| Npbwr1 |
C |
A |
1: 5,986,877 (GRCm39) |
L212F |
probably damaging |
Het |
| Nptx1 |
T |
G |
11: 119,434,142 (GRCm39) |
I315L |
probably benign |
Het |
| Npy2r |
G |
T |
3: 82,448,661 (GRCm39) |
P38Q |
possibly damaging |
Het |
| Ocln |
A |
T |
13: 100,671,537 (GRCm39) |
D24E |
probably damaging |
Het |
| Or14c41 |
T |
A |
7: 86,235,092 (GRCm39) |
V203D |
possibly damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,022 (GRCm39) |
I11F |
probably damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,296 (GRCm39) |
V108A |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,843,424 (GRCm39) |
V1845A |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,605,398 (GRCm39) |
Q1493L |
possibly damaging |
Het |
| Pold1 |
T |
C |
7: 44,190,908 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
C |
16: 36,882,459 (GRCm39) |
V1541A |
probably benign |
Het |
| Psmd3 |
T |
A |
11: 98,581,790 (GRCm39) |
M305K |
probably benign |
Het |
| Pura |
T |
C |
18: 36,420,803 (GRCm39) |
F197L |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,954,056 (GRCm39) |
W43R |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,573,464 (GRCm39) |
Q128R |
probably benign |
Het |
| Rnf208 |
G |
A |
2: 25,133,656 (GRCm39) |
V117I |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,321,208 (GRCm39) |
Y340C |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,719,166 (GRCm39) |
V4414L |
unknown |
Het |
| Sephs2 |
T |
C |
7: 126,872,649 (GRCm39) |
E148G |
possibly damaging |
Het |
| Spns2 |
T |
A |
11: 72,348,094 (GRCm39) |
Q291L |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,946,915 (GRCm39) |
P1090S |
probably benign |
Het |
| Tasp1 |
A |
T |
2: 139,793,426 (GRCm39) |
V250D |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,568,364 (GRCm39) |
I664T |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,555,747 (GRCm39) |
V813A |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,581,988 (GRCm39) |
L401P |
probably benign |
Het |
| Tmem138 |
T |
C |
19: 10,548,967 (GRCm39) |
N101S |
probably benign |
Het |
| Tmem242 |
G |
T |
17: 5,483,745 (GRCm39) |
A99E |
probably damaging |
Het |
| Tmem30a |
C |
T |
9: 79,681,446 (GRCm39) |
R277H |
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,211,049 (GRCm39) |
I174F |
probably benign |
Het |
| Tnni3 |
T |
A |
7: 4,522,405 (GRCm39) |
I182F |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,060,711 (GRCm39) |
D355V |
probably damaging |
Het |
| Trim35 |
C |
T |
14: 66,546,711 (GRCm39) |
R493* |
probably null |
Het |
| Trip10 |
G |
C |
17: 57,562,135 (GRCm39) |
V254L |
probably benign |
Het |
| Tshz2 |
A |
T |
2: 169,728,326 (GRCm39) |
Q505L |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,131,183 (GRCm39) |
V218A |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,182,780 (GRCm39) |
E3163V |
possibly damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,625 (GRCm39) |
M237K |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,600,488 (GRCm39) |
T1080A |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,590,119 (GRCm39) |
H599L |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,861,142 (GRCm39) |
N2891S |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,551,822 (GRCm39) |
Q1050* |
probably null |
Het |
| Zfp407 |
G |
T |
18: 84,227,918 (GRCm39) |
T1897K |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,791,459 (GRCm39) |
R2188* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTCACACCTTGGATTGAG -3'
(R):5'- TACTTCGCAGTAGACCCACTTGG -3'
Sequencing Primer
(F):5'- GTCGGTAAGGAGAGTAACAGATTCC -3'
(R):5'- CCACTTGGGCAGGGAGAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation