Incidental Mutation 'R2260:Pde2a'
ID |
243729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde2a
|
Ensembl Gene |
ENSMUSG00000110195 |
Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
Synonyms |
|
MMRRC Submission |
040260-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.807)
|
Stock # |
R2260 (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: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,354,978 (GRCm39) |
N1252I |
probably damaging |
Het |
Acot5 |
A |
T |
12: 84,122,643 (GRCm39) |
H409L |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,716,493 (GRCm39) |
V840E |
probably damaging |
Het |
Adnp2 |
A |
T |
18: 80,171,664 (GRCm39) |
M915K |
probably benign |
Het |
Cd101 |
G |
C |
3: 100,924,261 (GRCm39) |
L393V |
possibly damaging |
Het |
Cd177 |
A |
G |
7: 24,455,661 (GRCm39) |
V287A |
possibly damaging |
Het |
Cdc37l1 |
A |
T |
19: 28,984,448 (GRCm39) |
K194N |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,101,749 (GRCm39) |
T262A |
possibly damaging |
Het |
Chit1 |
A |
G |
1: 134,078,865 (GRCm39) |
S392G |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,258,651 (GRCm39) |
H8R |
probably benign |
Het |
Dusp12 |
C |
T |
1: 170,708,580 (GRCm39) |
R120H |
probably damaging |
Het |
Eln |
C |
A |
5: 134,758,508 (GRCm39) |
A126S |
unknown |
Het |
Entpd2 |
C |
T |
2: 25,288,099 (GRCm39) |
P108S |
probably damaging |
Het |
Fkbp6 |
C |
T |
5: 135,366,468 (GRCm39) |
|
probably null |
Het |
Ftcd |
T |
A |
10: 76,423,893 (GRCm39) |
|
probably null |
Het |
Gdf10 |
T |
C |
14: 33,654,234 (GRCm39) |
L247P |
probably damaging |
Het |
Gigyf1 |
C |
A |
5: 137,518,594 (GRCm39) |
A215E |
possibly damaging |
Het |
Gja4 |
C |
A |
4: 127,206,623 (GRCm39) |
D47Y |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,180,349 (GRCm39) |
G130E |
probably damaging |
Het |
Hrc |
C |
A |
7: 44,986,105 (GRCm39) |
R419S |
possibly damaging |
Het |
Itfg1 |
C |
T |
8: 86,449,306 (GRCm39) |
C576Y |
probably damaging |
Het |
Lama1 |
G |
T |
17: 68,044,502 (GRCm39) |
A134S |
probably damaging |
Het |
Larp4 |
T |
G |
15: 99,895,277 (GRCm39) |
F283L |
possibly damaging |
Het |
Marveld2 |
A |
G |
13: 100,748,978 (GRCm39) |
S34P |
probably benign |
Het |
Mettl18 |
T |
A |
1: 163,824,394 (GRCm39) |
D238E |
probably benign |
Het |
Mfn1 |
G |
T |
3: 32,617,575 (GRCm39) |
E74* |
probably null |
Het |
Mfn2 |
C |
A |
4: 147,979,063 (GRCm39) |
E90* |
probably null |
Het |
Mill2 |
T |
A |
7: 18,590,413 (GRCm39) |
D164E |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,967,368 (GRCm39) |
D568G |
probably benign |
Het |
Nt5c1b |
A |
T |
12: 10,424,965 (GRCm39) |
R170S |
probably damaging |
Het |
Or10ak11 |
T |
C |
4: 118,687,359 (GRCm39) |
I93V |
probably damaging |
Het |
Or4c100 |
G |
A |
2: 88,356,730 (GRCm39) |
V268I |
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 |
Pald1 |
G |
A |
10: 61,188,750 (GRCm39) |
R87W |
probably damaging |
Het |
Paox |
T |
A |
7: 139,713,967 (GRCm39) |
Y242* |
probably null |
Het |
Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,350,268 (GRCm39) |
Q371R |
probably benign |
Het |
Plaat5 |
C |
T |
19: 7,590,111 (GRCm39) |
R46C |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,082,145 (GRCm39) |
D38G |
possibly damaging |
Het |
Rag2 |
G |
A |
2: 101,460,583 (GRCm39) |
E298K |
probably benign |
Het |
Rbm12b2 |
G |
A |
4: 12,095,061 (GRCm39) |
R640H |
probably benign |
Het |
Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,341,962 (GRCm39) |
E604* |
probably null |
Het |
Rin2 |
A |
G |
2: 145,720,824 (GRCm39) |
D719G |
probably damaging |
Het |
Sash1 |
G |
A |
10: 8,662,142 (GRCm39) |
Q155* |
probably null |
Het |
Tacr1 |
A |
T |
6: 82,380,756 (GRCm39) |
I56F |
probably damaging |
Het |
Tbc1d4 |
G |
A |
14: 101,731,847 (GRCm39) |
T455M |
probably damaging |
Het |
Tex24 |
C |
T |
8: 27,834,883 (GRCm39) |
T137I |
probably damaging |
Het |
Tmem200a |
A |
C |
10: 25,869,313 (GRCm39) |
S319A |
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 |
Tmprss11f |
G |
A |
5: 86,739,269 (GRCm39) |
A4V |
probably benign |
Het |
Triobp |
T |
G |
15: 78,875,640 (GRCm39) |
|
probably null |
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 |
Vmn2r11 |
A |
T |
5: 109,201,657 (GRCm39) |
Y282* |
probably null |
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 |
|
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 |
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 |