Incidental Mutation 'PIT4431001:Pde2a'
| ID |
555239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
PIT4431001 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101151104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 271
(V271G)
|
| 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: V287G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: V287G
| 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: V261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: V261G
| 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: V261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: V261G
| 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: V271G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211368
AA Change: V261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 93.2%
- 3x: 90.7%
- 10x: 84.7%
- 20x: 71.4%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
A |
G |
5: 146,439,322 (GRCm39) |
I29V |
probably benign |
Het |
| 5730455P16Rik |
C |
A |
11: 80,254,750 (GRCm39) |
C357F |
probably damaging |
Het |
| Actr1a |
A |
T |
19: 46,370,731 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
C |
G |
11: 7,014,089 (GRCm39) |
Q164E |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,295,536 (GRCm39) |
S1176R |
possibly damaging |
Het |
| Atad2b |
A |
G |
12: 5,081,795 (GRCm39) |
T1235A |
possibly damaging |
Het |
| Atosb |
C |
A |
4: 43,036,024 (GRCm39) |
G236C |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 59,892,075 (GRCm39) |
D1091G |
probably benign |
Het |
| Bmp6 |
T |
C |
13: 38,669,906 (GRCm39) |
S397P |
probably benign |
Het |
| C3 |
A |
T |
17: 57,513,242 (GRCm39) |
N1468K |
probably benign |
Het |
| Ccnjl |
CGCG |
CGCGGCG |
11: 43,470,534 (GRCm39) |
|
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,764,231 (GRCm39) |
I100V |
probably benign |
Het |
| Cep162 |
T |
A |
9: 87,126,398 (GRCm39) |
R171S |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,455,706 (GRCm39) |
H994R |
probably damaging |
Het |
| Cntn3 |
T |
A |
6: 102,441,527 (GRCm39) |
K6N |
probably benign |
Het |
| Cope |
A |
G |
8: 70,765,417 (GRCm39) |
E289G |
probably damaging |
Het |
| Cpne8 |
T |
G |
15: 90,436,178 (GRCm39) |
E279A |
probably damaging |
Het |
| Cyp11a1 |
A |
T |
9: 57,923,555 (GRCm39) |
|
probably null |
Het |
| Dcp2 |
A |
G |
18: 44,545,638 (GRCm39) |
K333R |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,836,496 (GRCm39) |
V329F |
probably benign |
Het |
| Drc1 |
T |
A |
5: 30,504,417 (GRCm39) |
D186E |
probably damaging |
Het |
| Dsc2 |
G |
A |
18: 20,179,334 (GRCm39) |
Q245* |
probably null |
Het |
| Eef1e1 |
T |
C |
13: 38,842,938 (GRCm39) |
E11G |
probably damaging |
Het |
| Emilin2 |
G |
A |
17: 71,562,990 (GRCm39) |
P915S |
probably benign |
Het |
| Fpgt |
A |
G |
3: 154,792,422 (GRCm39) |
M535T |
possibly damaging |
Het |
| Fxyd3 |
G |
A |
7: 30,770,780 (GRCm39) |
L37F |
probably damaging |
Het |
| Gal3st2c |
T |
A |
1: 93,935,834 (GRCm39) |
I62N |
probably damaging |
Het |
| Gdpd3 |
T |
C |
7: 126,365,647 (GRCm39) |
I2T |
probably benign |
Het |
| Gm9611 |
T |
C |
14: 42,115,888 (GRCm39) |
M169V |
|
Het |
| Ints3 |
G |
A |
3: 90,303,767 (GRCm39) |
T720I |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,256,218 (GRCm39) |
M992L |
probably benign |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,508 (GRCm39) |
H256Q |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,977,426 (GRCm39) |
T1918A |
probably damaging |
Het |
| Lpcat2b |
G |
A |
5: 107,581,997 (GRCm39) |
G442D |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,894,767 (GRCm39) |
V2268M |
|
Het |
| Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
| Mtr |
C |
T |
13: 12,227,329 (GRCm39) |
V772M |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,013,515 (GRCm39) |
T103A |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,159,853 (GRCm39) |
I294V |
possibly damaging |
Het |
| Ncam1 |
A |
T |
9: 49,709,993 (GRCm39) |
F13I |
probably benign |
Het |
| Or4a75 |
T |
C |
2: 89,448,201 (GRCm39) |
I112V |
probably benign |
Het |
| Paqr6 |
A |
T |
3: 88,273,084 (GRCm39) |
I52F |
possibly damaging |
Het |
| Pde7b |
T |
C |
10: 20,276,291 (GRCm39) |
H405R |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,929,786 (GRCm39) |
Y214C |
probably damaging |
Het |
| Pmp22 |
T |
C |
11: 63,042,067 (GRCm39) |
F101L |
probably benign |
Het |
| Pold1 |
A |
G |
7: 44,188,318 (GRCm39) |
L520P |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,124,960 (GRCm39) |
T295A |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,475 (GRCm39) |
I415N |
probably damaging |
Het |
| Ptcd2 |
T |
A |
13: 99,476,527 (GRCm39) |
R71* |
probably null |
Het |
| Ptgs1 |
A |
T |
2: 36,130,692 (GRCm39) |
N197I |
probably damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,386,047 (GRCm39) |
D333G |
probably damaging |
Het |
| Rfx7 |
T |
A |
9: 72,525,253 (GRCm39) |
H814Q |
probably benign |
Het |
| Rptn |
TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG |
TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG |
3: 93,304,704 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,432 (GRCm39) |
H23L |
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,290 (GRCm39) |
V860E |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,032,124 (GRCm39) |
Y592N |
possibly damaging |
Het |
| Slco2a1 |
T |
C |
9: 102,927,467 (GRCm39) |
F120S |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,294,339 (GRCm39) |
F740S |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,765,396 (GRCm39) |
Y242C |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,195,509 (GRCm39) |
K288R |
probably benign |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,498 (GRCm39) |
S246P |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,688,642 (GRCm39) |
T2315M |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
| Thumpd3 |
T |
A |
6: 113,036,939 (GRCm39) |
N279K |
probably benign |
Het |
| Tmed5 |
T |
A |
5: 108,277,887 (GRCm39) |
H95L |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,674 (GRCm39) |
L443P |
probably damaging |
Het |
| Ttc38 |
C |
A |
15: 85,720,328 (GRCm39) |
Q97K |
probably benign |
Het |
| Unc13c |
C |
A |
9: 73,656,829 (GRCm39) |
C1124F |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,896,958 (GRCm39) |
T102A |
possibly damaging |
Het |
| Vwce |
G |
A |
19: 10,641,946 (GRCm39) |
E891K |
possibly damaging |
Het |
| Xkr5 |
A |
T |
8: 18,984,361 (GRCm39) |
S394T |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,390,326 (GRCm39) |
C4747Y |
unknown |
Het |
| Zfp804a |
T |
C |
2: 82,089,536 (GRCm39) |
F1122L |
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 |
|
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 |
|
|
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'- GAGTCCCTGAGCATCTATCTCC -3'
(R):5'- GGAACTCACTGGAAAGCTGAC -3'
Sequencing Primer
(F):5'- TCTCTCTCTCCAAAGACCAACAG -3'
(R):5'- ACTGGAAAGCTGACCTCTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation