Incidental Mutation 'R4179:Pde2a'
ID |
319629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde2a
|
Ensembl Gene |
ENSMUSG00000110195 |
Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
Synonyms |
|
MMRRC Submission |
041015-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.807)
|
Stock # |
R4179 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 101130590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 71
(*71W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210092]
[ENSMUST00000211368]
[ENSMUST00000210364]
|
AlphaFold |
Q922S4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084894
AA Change: S77G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000081956 Gene: ENSMUSG00000030653 AA Change: S77G
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: S51G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000131553 Gene: ENSMUSG00000110195 AA Change: S51G
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: S51G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000127521 Gene: ENSMUSG00000110195 AA Change: S51G
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: S61G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209695
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210092
AA Change: *81W
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210100
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211368
AA Change: S51G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000210364
AA Change: *71W
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210348
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210535
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,104,128 (GRCm39) |
M506V |
probably benign |
Het |
Ano1 |
A |
T |
7: 144,204,242 (GRCm39) |
M290K |
probably damaging |
Het |
Arrdc2 |
A |
T |
8: 71,289,821 (GRCm39) |
L34Q |
probably damaging |
Het |
Cdadc1 |
G |
T |
14: 59,829,935 (GRCm39) |
T77N |
probably benign |
Het |
Cmtr2 |
C |
G |
8: 110,947,669 (GRCm39) |
|
probably null |
Het |
Cnot2 |
A |
T |
10: 116,334,048 (GRCm39) |
V374E |
possibly damaging |
Het |
Crnn |
T |
C |
3: 93,054,120 (GRCm39) |
M1T |
probably null |
Het |
Ctsb |
A |
G |
14: 63,370,901 (GRCm39) |
N38D |
probably benign |
Het |
Dock10 |
A |
C |
1: 80,488,134 (GRCm39) |
S2010A |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Eci1 |
T |
C |
17: 24,655,251 (GRCm39) |
W119R |
probably damaging |
Het |
Foxo1 |
C |
A |
3: 52,252,840 (GRCm39) |
D334E |
probably benign |
Het |
Gck |
T |
C |
11: 5,860,295 (GRCm39) |
T116A |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,726,109 (GRCm39) |
V588A |
probably benign |
Het |
Gm7168 |
A |
G |
17: 14,169,265 (GRCm39) |
I211V |
probably benign |
Het |
Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
Jag1 |
A |
G |
2: 136,943,578 (GRCm39) |
F206S |
probably damaging |
Het |
Loxl3 |
G |
A |
6: 83,014,565 (GRCm39) |
V158I |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,027,567 (GRCm39) |
|
probably null |
Het |
Myo1b |
A |
G |
1: 51,817,685 (GRCm39) |
F532L |
probably damaging |
Het |
Naip1 |
T |
A |
13: 100,562,684 (GRCm39) |
N827I |
probably damaging |
Het |
Nlrp9c |
G |
A |
7: 26,084,086 (GRCm39) |
H498Y |
possibly damaging |
Het |
Or10d1b |
A |
G |
9: 39,613,387 (GRCm39) |
I226T |
probably benign |
Het |
Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
Pcdha2 |
T |
A |
18: 37,074,529 (GRCm39) |
L720Q |
probably damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,534,168 (GRCm39) |
M54K |
probably benign |
Het |
Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,387,045 (GRCm39) |
Y1306S |
probably benign |
Het |
Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
Prkd1 |
C |
A |
12: 50,413,231 (GRCm39) |
G647C |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,606,729 (GRCm39) |
I1510T |
probably benign |
Het |
Ranbp3l |
T |
C |
15: 9,057,279 (GRCm39) |
I314T |
possibly damaging |
Het |
Rgs9 |
C |
A |
11: 109,172,274 (GRCm39) |
|
probably null |
Het |
Riok1 |
T |
C |
13: 38,232,931 (GRCm39) |
F216L |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,106,405 (GRCm39) |
I308N |
probably damaging |
Het |
Serpina1f |
A |
T |
12: 103,658,179 (GRCm39) |
M242K |
probably benign |
Het |
Smox |
G |
A |
2: 131,366,770 (GRCm39) |
M576I |
possibly damaging |
Het |
Spaca7 |
A |
T |
8: 12,636,435 (GRCm39) |
N87I |
probably damaging |
Het |
Spink5 |
A |
T |
18: 44,120,934 (GRCm39) |
Q296L |
probably benign |
Het |
Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
Sult2b1 |
T |
A |
7: 45,384,735 (GRCm39) |
I114F |
probably damaging |
Het |
Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tsen54 |
T |
C |
11: 115,711,678 (GRCm39) |
V365A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Usp47 |
T |
C |
7: 111,687,091 (GRCm39) |
L683P |
probably damaging |
Het |
Wdr18 |
T |
C |
10: 79,800,875 (GRCm39) |
L146P |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,643,750 (GRCm39) |
Y392C |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,888,601 (GRCm39) |
I828N |
possibly 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 |
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'- TGCCAGAGTTGTTGCTGTCC -3'
(R):5'- CAGGAGTTCTTGATGTCTATCCTC -3'
Sequencing Primer
(F):5'- CAGGAAACCTGTGTTGACTCTTGAC -3'
(R):5'- CCTCATTCTCTCCTGCTATACATATG -3'
|
Posted On |
2015-06-10 |