Incidental Mutation 'R6365:Pde2a'
| ID |
512636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde2a
|
| Ensembl Gene |
ENSMUSG00000110195 |
| Gene Name |
phosphodiesterase 2A, cGMP-stimulated |
| Synonyms |
|
| MMRRC Submission |
044515-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.805)
|
| Stock # |
R6365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101070905-101162026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101159570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 800
(T800I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147847
(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: T826I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081956
Gene: ENSMUSG00000030653
AA Change: T826I
| 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: T804I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131553
Gene: ENSMUSG00000110195
AA Change: T804I
| 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: T800I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127521
Gene: ENSMUSG00000110195
AA Change: T800I
| 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: T810I
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: T800I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,330,510 (GRCm39) |
R1235S |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,036,481 (GRCm39) |
I543F |
possibly damaging |
Het |
| Acot6 |
A |
G |
12: 84,156,186 (GRCm39) |
E378G |
probably benign |
Het |
| Adam30 |
T |
C |
3: 98,068,350 (GRCm39) |
L61S |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,679,983 (GRCm39) |
L227Q |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,316,285 (GRCm39) |
I285T |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,599,979 (GRCm39) |
Y497H |
probably benign |
Het |
| Bace1 |
C |
T |
9: 45,765,974 (GRCm39) |
Q17* |
probably null |
Het |
| Calcr |
T |
C |
6: 3,711,455 (GRCm39) |
I189V |
probably benign |
Het |
| Cd48 |
A |
T |
1: 171,509,732 (GRCm39) |
Q24L |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,762,288 (GRCm39) |
I409V |
probably benign |
Het |
| Ctsd |
G |
A |
7: 141,939,314 (GRCm39) |
T37M |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,296,198 (GRCm39) |
S171P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,325,983 (GRCm39) |
S197R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drd2 |
A |
T |
9: 49,318,249 (GRCm39) |
N397I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,008 (GRCm39) |
E3045G |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,751,636 (GRCm39) |
R764S |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,815,412 (GRCm39) |
E3247G |
unknown |
Het |
| Exosc10 |
T |
C |
4: 148,645,562 (GRCm39) |
V114A |
probably benign |
Het |
| Fam234a |
C |
A |
17: 26,439,429 (GRCm39) |
E32* |
probably null |
Het |
| Fbxw11 |
C |
A |
11: 32,670,623 (GRCm39) |
D162E |
possibly damaging |
Het |
| Fcho2 |
A |
T |
13: 98,926,367 (GRCm39) |
M72K |
probably benign |
Het |
| Fech |
T |
C |
18: 64,591,251 (GRCm39) |
N391S |
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,286,684 (GRCm39) |
L58P |
probably damaging |
Het |
| Gdi2 |
A |
G |
13: 3,615,093 (GRCm39) |
D430G |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,363,226 (GRCm39) |
C763Y |
probably damaging |
Het |
| H2bc6 |
C |
T |
13: 23,769,641 (GRCm39) |
R100H |
probably benign |
Het |
| Hibch |
T |
A |
1: 52,908,096 (GRCm39) |
|
probably null |
Het |
| Ifi44l |
C |
T |
3: 151,467,142 (GRCm39) |
V63I |
unknown |
Het |
| Igf1r |
G |
T |
7: 67,839,798 (GRCm39) |
A702S |
probably benign |
Het |
| Kctd13 |
G |
A |
7: 126,529,862 (GRCm39) |
R101Q |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,129,294 (GRCm39) |
D645G |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,680,961 (GRCm39) |
T74A |
probably benign |
Het |
| Myo1f |
A |
G |
17: 33,805,090 (GRCm39) |
S453G |
probably benign |
Het |
| Naxe |
A |
G |
3: 87,965,298 (GRCm39) |
V105A |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,853,201 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,288,518 (GRCm39) |
T665A |
probably benign |
Het |
| Or51l4 |
T |
A |
7: 103,404,402 (GRCm39) |
H130L |
probably benign |
Het |
| Otud7b |
T |
G |
3: 96,062,567 (GRCm39) |
I602S |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,709,675 (GRCm39) |
G207* |
probably null |
Het |
| Papolg |
T |
C |
11: 23,832,290 (GRCm39) |
D166G |
probably damaging |
Het |
| Pbx4 |
T |
G |
8: 70,324,857 (GRCm39) |
|
probably null |
Het |
| Pdcd4 |
T |
C |
19: 53,910,564 (GRCm39) |
|
probably null |
Het |
| Polk |
A |
T |
13: 96,620,517 (GRCm39) |
V582E |
probably damaging |
Het |
| Prss40 |
A |
G |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
G |
T |
9: 37,322,008 (GRCm39) |
R597L |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,017 (GRCm39) |
I529F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,862,188 (GRCm39) |
F180L |
probably benign |
Het |
| Sowahc |
T |
C |
10: 59,059,349 (GRCm39) |
L495P |
probably damaging |
Het |
| Trf |
A |
G |
9: 103,099,327 (GRCm39) |
V324A |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vip |
C |
T |
10: 5,594,021 (GRCm39) |
R125* |
probably null |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,826 (GRCm39) |
T69S |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,374 (GRCm39) |
F14L |
probably benign |
Het |
| Vmn1r53 |
T |
C |
6: 90,201,241 (GRCm39) |
N28D |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,607 (GRCm39) |
K345N |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb8os |
A |
T |
4: 129,236,945 (GRCm39) |
N120I |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,785 (GRCm39) |
L274H |
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 |
|
|
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'- GTTCCCATGGGATGCTGTAG -3'
(R):5'- AGAGAGCTGTTCAGGCTACTG -3'
Sequencing Primer
(F):5'- ATGGGATGCTGTAGACCCAC -3'
(R):5'- CACACAGAGCTGGTGATGGC -3'
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| Posted On |
2018-04-27 |
Incidental Mutation