Incidental Mutation 'R7107:Pde2a'
| ID |
551244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
045199-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.805)
|
| Stock # |
R7107 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101071175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 15
(Q15L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000210364]
[ENSMUST00000211368]
|
| AlphaFold |
Q922S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084894
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
| 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: Q15L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: Q15L
| 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: Q15L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: Q15L
| 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: ENSMUST00000210364
AA Change: Q15L
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211368
AA Change: Q15L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (78/79) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,867,299 (GRCm39) |
L253S |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,726,261 (GRCm39) |
E588G |
probably benign |
Het |
| Ahcy |
G |
A |
2: 154,910,893 (GRCm39) |
A25V |
probably damaging |
Het |
| Ank2 |
A |
C |
3: 126,797,631 (GRCm39) |
L710R |
probably damaging |
Het |
| Ap1b1 |
A |
G |
11: 4,989,558 (GRCm39) |
T824A |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,763,551 (GRCm39) |
H1531L |
probably damaging |
Het |
| Atosb |
A |
T |
4: 43,036,434 (GRCm39) |
V99E |
probably benign |
Het |
| B3gnt7 |
T |
C |
1: 86,233,495 (GRCm39) |
L247P |
probably damaging |
Het |
| Bcl6b |
A |
G |
11: 70,117,396 (GRCm39) |
C409R |
probably damaging |
Het |
| Bicdl1 |
T |
C |
5: 115,808,229 (GRCm39) |
H301R |
probably benign |
Het |
| Casc3 |
T |
A |
11: 98,718,413 (GRCm39) |
I491N |
possibly damaging |
Het |
| Ccdc92b |
T |
A |
11: 74,520,887 (GRCm39) |
L63Q |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,837,314 (GRCm39) |
T2319A |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,981,628 (GRCm39) |
S1356P |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,450,129 (GRCm39) |
S1542P |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,299,915 (GRCm39) |
C188R |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,542,120 (GRCm39) |
D751G |
probably damaging |
Het |
| Cpsf4l |
G |
A |
11: 113,593,315 (GRCm39) |
R90C |
possibly damaging |
Het |
| Defa21 |
G |
A |
8: 21,515,724 (GRCm39) |
A41T |
probably damaging |
Het |
| Dennd4a |
G |
T |
9: 64,801,681 (GRCm39) |
L941F |
possibly damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
A |
T |
19: 12,450,624 (GRCm39) |
C529* |
probably null |
Het |
| Entpd3 |
A |
G |
9: 120,389,665 (GRCm39) |
Y317C |
probably damaging |
Het |
| Erp29 |
T |
A |
5: 121,583,381 (GRCm39) |
I182F |
possibly damaging |
Het |
| Fam161a |
A |
G |
11: 22,973,452 (GRCm39) |
R445G |
possibly damaging |
Het |
| Fam76a |
T |
A |
4: 132,631,232 (GRCm39) |
M238L |
possibly damaging |
Het |
| Fn1 |
T |
C |
1: 71,666,408 (GRCm39) |
Y875C |
probably damaging |
Het |
| Gnb2 |
A |
G |
5: 137,528,444 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,237,963 (GRCm39) |
S229P |
probably damaging |
Het |
| Ighv6-6 |
A |
G |
12: 114,398,590 (GRCm39) |
S59P |
probably damaging |
Het |
| Itpkc |
C |
A |
7: 26,927,702 (GRCm39) |
A71S |
probably benign |
Het |
| Kcnk10 |
G |
A |
12: 98,485,002 (GRCm39) |
R45* |
probably null |
Het |
| Krcc1 |
A |
G |
6: 71,261,198 (GRCm39) |
S77G |
probably benign |
Het |
| Lelp1 |
G |
A |
3: 92,042,821 (GRCm39) |
T76I |
unknown |
Het |
| Lifr |
A |
T |
15: 7,208,421 (GRCm39) |
I600F |
possibly damaging |
Het |
| Lrrk1 |
T |
A |
7: 65,937,191 (GRCm39) |
D987V |
possibly damaging |
Het |
| Muc16 |
C |
T |
9: 18,548,594 (GRCm39) |
D5900N |
probably benign |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Myo9a |
A |
G |
9: 59,778,098 (GRCm39) |
I1285V |
probably benign |
Het |
| Ndel1 |
T |
C |
11: 68,713,474 (GRCm39) |
D321G |
possibly damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,449,144 (GRCm39) |
V449A |
probably damaging |
Het |
| Or10q12 |
A |
G |
19: 13,746,525 (GRCm39) |
E273G |
probably benign |
Het |
| Or2r11 |
T |
C |
6: 42,437,488 (GRCm39) |
N155S |
possibly damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,261 (GRCm39) |
Y94* |
probably null |
Het |
| Or51k1 |
A |
T |
7: 103,661,489 (GRCm39) |
L140Q |
probably benign |
Het |
| Or5k3 |
A |
C |
16: 58,969,279 (GRCm39) |
D22A |
probably benign |
Het |
| Osbpl1a |
G |
A |
18: 12,974,310 (GRCm39) |
R459* |
probably null |
Het |
| Pabpc1l |
A |
C |
2: 163,884,399 (GRCm39) |
T379P |
probably damaging |
Het |
| Pdk1 |
A |
G |
2: 71,726,085 (GRCm39) |
N331S |
probably benign |
Het |
| Pfdn1 |
A |
T |
18: 36,584,519 (GRCm39) |
|
probably null |
Het |
| Pnliprp1 |
T |
A |
19: 58,717,582 (GRCm39) |
L9H |
probably damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,076 (GRCm39) |
D242E |
possibly damaging |
Het |
| Prmt9 |
T |
A |
8: 78,294,880 (GRCm39) |
I408N |
possibly damaging |
Het |
| Psme4 |
G |
A |
11: 30,798,105 (GRCm39) |
R1366H |
probably benign |
Het |
| Pstpip1 |
A |
T |
9: 56,035,934 (GRCm39) |
D393V |
probably damaging |
Het |
| Rab5b |
A |
G |
10: 128,519,062 (GRCm39) |
|
probably null |
Het |
| Rap1gap2 |
G |
A |
11: 74,283,945 (GRCm39) |
R618C |
probably damaging |
Het |
| Rin1 |
A |
G |
19: 5,100,801 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,067,471 (GRCm39) |
T1124A |
probably damaging |
Het |
| Sirpb1c |
T |
A |
3: 15,892,941 (GRCm39) |
T88S |
possibly damaging |
Het |
| Slc35f6 |
T |
A |
5: 30,814,121 (GRCm39) |
I189N |
probably damaging |
Het |
| Slc49a3 |
T |
A |
5: 108,596,581 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
T |
A |
13: 59,889,997 (GRCm39) |
R608* |
probably null |
Het |
| Spsb2 |
A |
T |
6: 124,787,244 (GRCm39) |
Q226L |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,741,456 (GRCm39) |
D1221G |
possibly damaging |
Het |
| Sugp1 |
G |
A |
8: 70,522,800 (GRCm39) |
R500H |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,082,078 (GRCm39) |
Y849H |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,428,092 (GRCm39) |
I249N |
possibly damaging |
Het |
| Tdrd6 |
A |
C |
17: 43,935,095 (GRCm39) |
F1984L |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,890,314 (GRCm39) |
V219E |
unknown |
Het |
| Tpst1 |
T |
A |
5: 130,143,344 (GRCm39) |
V294D |
probably damaging |
Het |
| Treml1 |
A |
G |
17: 48,667,247 (GRCm39) |
Q44R |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,733,945 (GRCm39) |
A933T |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,969,142 (GRCm39) |
L853P |
probably damaging |
Het |
| Vmn1r10 |
A |
T |
6: 57,090,615 (GRCm39) |
N69I |
possibly damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,627,819 (GRCm39) |
Y3* |
probably null |
Het |
| Vmn2r38 |
T |
A |
7: 9,093,728 (GRCm39) |
Y498F |
probably benign |
Het |
| Zc3h11a |
T |
C |
1: 133,566,655 (GRCm39) |
T179A |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,140,169 (GRCm39) |
T3A |
probably benign |
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 |
|
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'- TGTGTTGAGTACAGGCAGAGTC -3'
(R):5'- CAGGCATCACTCCTCTATACAG -3'
Sequencing Primer
(F):5'- GCAGAGTCAAGAACCAGCCATTG -3'
(R):5'- TAACTAGGTTGCCGTCCTGCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation