Incidental Mutation 'R7142:Pde2a'
| ID |
553470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
045250-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R7142 (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 101153857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 485
(D485V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210364]
[ENSMUST00000211368]
|
| AlphaFold |
Q922S4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084894
AA Change: D501V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: D501V
| 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: D479V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: D479V
| 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: D475V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: D475V
| 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: D485V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211368
AA Change: D475V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (63/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,446 (GRCm39) |
H290L |
probably damaging |
Het |
| Abca1 |
T |
A |
4: 53,082,050 (GRCm39) |
S737C |
probably damaging |
Het |
| Abca14 |
G |
C |
7: 119,850,406 (GRCm39) |
V753L |
possibly damaging |
Het |
| Adgrl1 |
C |
T |
8: 84,663,829 (GRCm39) |
H1099Y |
probably benign |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Aldh1l1 |
G |
A |
6: 90,540,398 (GRCm39) |
D228N |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,288,230 (GRCm39) |
Q1883K |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,697,562 (GRCm39) |
Y125H |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,527,192 (GRCm39) |
Y139N |
probably damaging |
Het |
| Cd93 |
C |
T |
2: 148,283,725 (GRCm39) |
W540* |
probably null |
Het |
| Cdh3 |
G |
A |
8: 107,271,860 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
G |
A |
16: 65,343,794 (GRCm39) |
Q88* |
probably null |
Het |
| Cpt1a |
T |
C |
19: 3,425,100 (GRCm39) |
M489T |
probably benign |
Het |
| Ctsk |
G |
A |
3: 95,414,259 (GRCm39) |
V274M |
possibly damaging |
Het |
| Cyp3a44 |
A |
G |
5: 145,714,771 (GRCm39) |
V460A |
probably benign |
Het |
| Cypt4 |
C |
T |
9: 24,536,740 (GRCm39) |
R77* |
probably null |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dnah7a |
A |
T |
1: 53,452,927 (GRCm39) |
Y3850* |
probably null |
Het |
| Drosha |
A |
T |
15: 12,924,232 (GRCm39) |
T1205S |
possibly damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,465 (GRCm39) |
E116G |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,213,374 (GRCm39) |
E790G |
probably damaging |
Het |
| Fam163b |
C |
T |
2: 27,003,567 (GRCm39) |
R29Q |
probably damaging |
Het |
| Fbxo44 |
C |
T |
4: 148,243,269 (GRCm39) |
G50E |
unknown |
Het |
| Foxo3 |
T |
C |
10: 42,150,591 (GRCm39) |
|
probably null |
Het |
| Gnal |
C |
T |
18: 67,351,599 (GRCm39) |
P386L |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,654,615 (GRCm39) |
H478Q |
probably benign |
Het |
| Grhl2 |
A |
T |
15: 37,279,826 (GRCm39) |
D178V |
probably benign |
Het |
| Gtf2i |
C |
A |
5: 134,273,705 (GRCm39) |
V755L |
possibly damaging |
Het |
| Hal |
T |
C |
10: 93,336,513 (GRCm39) |
V414A |
possibly damaging |
Het |
| Hmx2 |
T |
C |
7: 131,157,465 (GRCm39) |
V193A |
probably damaging |
Het |
| Il17a |
T |
A |
1: 20,802,327 (GRCm39) |
M12K |
probably benign |
Het |
| Invs |
T |
A |
4: 48,407,696 (GRCm39) |
I557N |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,898,170 (GRCm39) |
H523Q |
probably benign |
Het |
| Lrp4 |
T |
A |
2: 91,325,339 (GRCm39) |
I1388N |
probably damaging |
Het |
| Mboat4 |
A |
G |
8: 34,587,291 (GRCm39) |
I63V |
probably benign |
Het |
| Mcoln2 |
G |
A |
3: 145,889,324 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
A |
T |
1: 127,339,924 (GRCm39) |
D435V |
probably damaging |
Het |
| Mri1 |
C |
A |
8: 84,983,753 (GRCm39) |
R46L |
probably damaging |
Het |
| Mxra8 |
A |
T |
4: 155,927,519 (GRCm39) |
Y409F |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,062,901 (GRCm39) |
R720* |
probably null |
Het |
| Ofcc1 |
T |
C |
13: 40,157,538 (GRCm39) |
I887V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,056 (GRCm39) |
I174V |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,399,391 (GRCm39) |
|
probably null |
Het |
| P3h1 |
T |
A |
4: 119,104,358 (GRCm39) |
D626E |
probably benign |
Het |
| Phldb2 |
G |
A |
16: 45,577,539 (GRCm39) |
R1129* |
probably null |
Het |
| Pkn1 |
T |
C |
8: 84,420,596 (GRCm39) |
E10G |
possibly damaging |
Het |
| Psd2 |
A |
G |
18: 36,113,097 (GRCm39) |
D264G |
possibly damaging |
Het |
| Psg29 |
A |
G |
7: 16,944,546 (GRCm39) |
D352G |
probably damaging |
Het |
| Rgs14 |
T |
C |
13: 55,527,417 (GRCm39) |
S218P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,048,379 (GRCm39) |
T380A |
probably benign |
Het |
| Septin12 |
T |
C |
16: 4,806,226 (GRCm39) |
T312A |
unknown |
Het |
| Skint5 |
A |
T |
4: 113,428,791 (GRCm39) |
V1075E |
unknown |
Het |
| Ston2 |
A |
G |
12: 91,614,009 (GRCm39) |
S800P |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,081,564 (GRCm39) |
N157S |
probably damaging |
Het |
| Tmem132b |
G |
A |
5: 125,699,737 (GRCm39) |
G133S |
probably damaging |
Het |
| Tmie |
A |
T |
9: 110,699,749 (GRCm39) |
M55K |
possibly damaging |
Het |
| Trpc6 |
A |
T |
9: 8,653,017 (GRCm39) |
R608* |
probably null |
Het |
| Unc93a2 |
G |
A |
17: 7,644,021 (GRCm39) |
T96I |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,960,754 (GRCm39) |
S891P |
probably damaging |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,035 (GRCm39) |
T28A |
probably damaging |
Het |
| Wnk1 |
T |
A |
6: 119,926,240 (GRCm39) |
M1324L |
probably benign |
Het |
| Wrnip1 |
C |
A |
13: 32,986,616 (GRCm39) |
S132R |
possibly damaging |
Het |
| Wsb1 |
T |
C |
11: 79,141,814 (GRCm39) |
K68E |
probably benign |
Het |
| Zfp433 |
A |
T |
10: 81,556,040 (GRCm39) |
K181* |
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 |
|
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 |
|
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'- TGGATCAGAACGAGCTGGTG -3'
(R):5'- TGGCTCTTTAGGTTCCGACC -3'
Sequencing Primer
(F):5'- ACGAGCTGGTGGCCAAG -3'
(R):5'- GGTTCCGACCCTAGAACCACTTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation