Incidental Mutation 'R6971:Pde2a'
| ID |
542247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
045081-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.807)
|
| Stock # |
R6971 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 101159520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 783
(Y783*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084894]
[ENSMUST00000163751]
[ENSMUST00000166652]
[ENSMUST00000209537]
[ENSMUST00000210364]
[ENSMUST00000211368]
|
| AlphaFold |
Q922S4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084894
AA Change: Y809*
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: Y809*
| 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 null
Transcript: ENSMUST00000163751
AA Change: Y787*
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: Y787*
| 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 null
Transcript: ENSMUST00000166652
AA Change: Y783*
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: Y783*
| 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 null
Transcript: ENSMUST00000209537
AA Change: Y793*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210364
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211368
AA Change: Y783*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
96% (47/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,000,903 (GRCm39) |
T32S |
possibly damaging |
Het |
| 2210408I21Rik |
A |
G |
13: 77,341,306 (GRCm39) |
S52G |
possibly damaging |
Het |
| Aadacl4 |
G |
A |
4: 144,349,303 (GRCm39) |
V187M |
probably damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,273,476 (GRCm39) |
Q1094L |
probably benign |
Het |
| Amigo1 |
C |
T |
3: 108,095,452 (GRCm39) |
S317L |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,424,831 (GRCm39) |
F32L |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,766,392 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
A |
T |
12: 100,920,486 (GRCm39) |
D378E |
probably damaging |
Het |
| Ccdc97 |
G |
T |
7: 25,414,384 (GRCm39) |
Y123* |
probably null |
Het |
| Cdk10 |
T |
A |
8: 123,954,413 (GRCm39) |
M46K |
probably damaging |
Het |
| Dsc3 |
A |
G |
18: 20,099,275 (GRCm39) |
|
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,177 (GRCm39) |
N254Y |
possibly damaging |
Het |
| Fnip2 |
G |
A |
3: 79,388,428 (GRCm39) |
R768* |
probably null |
Het |
| Glra1 |
A |
T |
11: 55,427,325 (GRCm39) |
Y3* |
probably null |
Het |
| Gltpd2 |
A |
G |
11: 70,411,290 (GRCm39) |
T194A |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,526 (GRCm39) |
L2301* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,868,802 (GRCm39) |
M1L |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,322,333 (GRCm39) |
E4133K |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,699 (GRCm39) |
L714I |
probably damaging |
Het |
| Igfbpl1 |
A |
G |
4: 45,816,333 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,674,510 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,154,366 (GRCm39) |
Y224N |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,440,646 (GRCm39) |
L624S |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,597,335 (GRCm39) |
Y720H |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,042 (GRCm39) |
F139L |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,846,305 (GRCm39) |
V72A |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,638 (GRCm39) |
V37E |
possibly damaging |
Het |
| Pfkfb2 |
A |
G |
1: 130,628,533 (GRCm39) |
Y358H |
probably damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,759,258 (GRCm39) |
S23P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,378,477 (GRCm39) |
|
probably null |
Het |
| Prss36 |
T |
C |
7: 127,544,410 (GRCm39) |
T92A |
probably benign |
Het |
| Rnft2 |
A |
G |
5: 118,332,635 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
G |
10: 79,895,868 (GRCm39) |
V971A |
possibly damaging |
Het |
| Sec63 |
A |
G |
10: 42,659,438 (GRCm39) |
E42G |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,189 (GRCm39) |
L371Q |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,042,437 (GRCm39) |
I807F |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,686,974 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,406,718 (GRCm39) |
I556V |
possibly damaging |
Het |
| Stim2 |
T |
A |
5: 54,275,641 (GRCm39) |
C605* |
probably null |
Het |
| Tecrl |
T |
C |
5: 83,502,649 (GRCm39) |
T67A |
possibly damaging |
Het |
| Ttc33 |
C |
A |
15: 5,241,523 (GRCm39) |
A116E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,772,393 (GRCm39) |
T2503I |
possibly damaging |
Het |
| Ubp1 |
T |
C |
9: 113,801,831 (GRCm39) |
I468T |
probably damaging |
Het |
| Urgcp |
A |
T |
11: 5,668,115 (GRCm39) |
H74Q |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,826,252 (GRCm39) |
I2224T |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,400 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,166,668 (GRCm39) |
M821T |
probably damaging |
Het |
| Zfp777 |
C |
A |
6: 48,001,625 (GRCm39) |
A866S |
probably 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 |
|
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 |
|
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'- ATTCCTGGCTATGGTGTCCC -3'
(R):5'- AGAGCTGTTCAGGCTACTGTG -3'
Sequencing Primer
(F):5'- TATGGTGTCCCTGCAGGCAG -3'
(R):5'- CACACAGAGCTGGTGATGGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation