Incidental Mutation 'R8853:Ppp2r3d'
| ID |
675126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r3d
|
| Ensembl Gene |
ENSMUSG00000093803 |
| Gene Name |
protein phosphatase 2 (formerly 2A), regulatory subunit B'', delta |
| Synonyms |
Ppp2r3, PR59, Ppp2r3a |
| MMRRC Submission |
068675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R8853 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101090110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 71
(V71A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075941]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075941
AA Change: V71A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: V71A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
Blast:EFh
|
760 |
789 |
1e-9 |
BLAST |
|
Pfam:EF-hand_7
|
902 |
1000 |
2.5e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,882,994 (GRCm39) |
Y290F |
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,311,337 (GRCm39) |
L136M |
possibly damaging |
Het |
| Arpp21 |
T |
G |
9: 111,976,516 (GRCm39) |
T322P |
probably damaging |
Het |
| Atp6v1c2 |
C |
T |
12: 17,351,148 (GRCm39) |
V128M |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,948,879 (GRCm39) |
V1523A |
possibly damaging |
Het |
| Copg2 |
G |
C |
6: 30,803,115 (GRCm39) |
L277V |
probably benign |
Het |
| Cyp2b19 |
A |
G |
7: 26,456,645 (GRCm39) |
T12A |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,787,024 (GRCm39) |
C115S |
probably damaging |
Het |
| Defb35 |
G |
A |
8: 22,430,806 (GRCm39) |
R60Q |
unknown |
Het |
| Dlgap3 |
T |
A |
4: 127,088,810 (GRCm39) |
D135E |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,117,645 (GRCm39) |
W2215R |
possibly damaging |
Het |
| Eea1 |
G |
C |
10: 95,857,517 (GRCm39) |
A660P |
|
Het |
| Egfr |
A |
G |
11: 16,858,885 (GRCm39) |
I955V |
possibly damaging |
Het |
| Eif3b |
G |
A |
5: 140,425,774 (GRCm39) |
V655M |
probably damaging |
Het |
| Elp3 |
T |
A |
14: 65,815,390 (GRCm39) |
I220F |
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,772,967 (GRCm39) |
V550A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,460,647 (GRCm39) |
S857L |
possibly damaging |
Het |
| Glt28d2 |
T |
A |
3: 85,779,087 (GRCm39) |
M129L |
probably benign |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,726 (GRCm39) |
Y2742N |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,765,979 (GRCm39) |
Q541L |
possibly damaging |
Het |
| Myh14 |
G |
A |
7: 44,265,678 (GRCm39) |
T1559I |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,119,744 (GRCm39) |
F783L |
possibly damaging |
Het |
| Myrip |
C |
T |
9: 120,290,487 (GRCm39) |
A702V |
probably damaging |
Het |
| Ndnf |
C |
A |
6: 65,680,161 (GRCm39) |
Q147K |
probably benign |
Het |
| Necab2 |
C |
G |
8: 120,189,339 (GRCm39) |
R170G |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,063,690 (GRCm39) |
I59T |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,454,276 (GRCm39) |
S211P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,725 (GRCm39) |
Q483L |
possibly damaging |
Het |
| Or6k14 |
T |
C |
1: 173,927,861 (GRCm39) |
V279A |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,106,119 (GRCm39) |
T245A |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,493,945 (GRCm39) |
T389M |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,883,744 (GRCm39) |
K638E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,679 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
C |
3: 63,688,967 (GRCm39) |
D67G |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,884 (GRCm39) |
R298* |
probably null |
Het |
| Ppp1r13l |
A |
G |
7: 19,103,893 (GRCm39) |
I125V |
probably benign |
Het |
| Pvr |
A |
G |
7: 19,650,897 (GRCm39) |
V209A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,298,198 (GRCm39) |
L414P |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,464,855 (GRCm39) |
D601G |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,912,089 (GRCm39) |
N199K |
probably benign |
Het |
| Rin2 |
G |
T |
2: 145,718,475 (GRCm39) |
A652S |
possibly damaging |
Het |
| Rnf34 |
T |
C |
5: 123,002,087 (GRCm39) |
L88P |
possibly damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,914 (GRCm39) |
I194V |
probably benign |
Het |
| Spred3 |
A |
G |
7: 28,861,415 (GRCm39) |
S255P |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,641 (GRCm39) |
|
probably null |
Het |
| Synpo2l |
C |
A |
14: 20,711,442 (GRCm39) |
G622C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,795,382 (GRCm39) |
C582R |
probably damaging |
Het |
| Tex261 |
A |
T |
6: 83,750,727 (GRCm39) |
I90N |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,982,439 (GRCm39) |
F100S |
probably damaging |
Het |
| Trhde |
G |
A |
10: 114,636,830 (GRCm39) |
P126S |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,737 (GRCm39) |
V694E |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,782 (GRCm39) |
L600Q |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,634,227 (GRCm39) |
C2174Y |
|
Het |
| Wee2 |
A |
G |
6: 40,441,200 (GRCm39) |
T502A |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 23,823,390 (GRCm39) |
|
silent |
Het |
| Zfp40 |
T |
A |
17: 23,394,691 (GRCm39) |
H632L |
possibly damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,740,965 (GRCm39) |
S378G |
probably damaging |
Het |
|
| Other mutations in Ppp2r3d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Ppp2r3d
|
APN |
9 |
101,088,500 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01122:Ppp2r3d
|
APN |
9 |
101,088,844 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02332:Ppp2r3d
|
APN |
9 |
101,057,602 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02653:Ppp2r3d
|
APN |
9 |
101,088,892 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03329:Ppp2r3d
|
APN |
9 |
101,003,630 (GRCm39) |
splice site |
probably benign |
|
|
IGL03351:Ppp2r3d
|
APN |
9 |
101,088,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
lank
|
UTSW |
9 |
101,075,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Ppp2r3d
|
UTSW |
9 |
101,003,576 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4687001:Ppp2r3d
|
UTSW |
9 |
101,021,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0243:Ppp2r3d
|
UTSW |
9 |
101,089,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Ppp2r3d
|
UTSW |
9 |
101,075,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1086:Ppp2r3d
|
UTSW |
9 |
101,031,021 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1215:Ppp2r3d
|
UTSW |
9 |
101,089,883 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1245:Ppp2r3d
|
UTSW |
9 |
101,071,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1458:Ppp2r3d
|
UTSW |
9 |
101,088,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Ppp2r3d
|
UTSW |
9 |
101,089,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1857:Ppp2r3d
|
UTSW |
9 |
101,090,092 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1972:Ppp2r3d
|
UTSW |
9 |
101,088,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Ppp2r3d
|
UTSW |
9 |
101,022,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Ppp2r3d
|
UTSW |
9 |
101,021,570 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2135:Ppp2r3d
|
UTSW |
9 |
101,088,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2180:Ppp2r3d
|
UTSW |
9 |
101,004,214 (GRCm39) |
nonsense |
probably null |
|
|
R3155:Ppp2r3d
|
UTSW |
9 |
101,089,559 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4190:Ppp2r3d
|
UTSW |
9 |
124,424,123 (GRCm38) |
unclassified |
probably benign |
|
|
R4657:Ppp2r3d
|
UTSW |
9 |
124,476,821 (GRCm38) |
missense |
unknown |
|
|
R4797:Ppp2r3d
|
UTSW |
9 |
101,089,179 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4829:Ppp2r3d
|
UTSW |
9 |
101,089,709 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5269:Ppp2r3d
|
UTSW |
9 |
101,031,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5498:Ppp2r3d
|
UTSW |
9 |
124,439,123 (GRCm38) |
unclassified |
probably benign |
|
|
R5820:Ppp2r3d
|
UTSW |
9 |
124,422,765 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5917:Ppp2r3d
|
UTSW |
9 |
101,089,183 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5939:Ppp2r3d
|
UTSW |
9 |
101,089,824 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6089:Ppp2r3d
|
UTSW |
9 |
101,088,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6254:Ppp2r3d
|
UTSW |
9 |
101,025,786 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6574:Ppp2r3d
|
UTSW |
9 |
101,071,584 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6776:Ppp2r3d
|
UTSW |
9 |
101,090,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6823:Ppp2r3d
|
UTSW |
9 |
124,439,078 (GRCm38) |
unclassified |
probably benign |
|
|
R6927:Ppp2r3d
|
UTSW |
9 |
101,052,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Ppp2r3d
|
UTSW |
9 |
124,439,080 (GRCm38) |
nonsense |
probably null |
|
|
R7162:Ppp2r3d
|
UTSW |
9 |
124,439,673 (GRCm38) |
missense |
|
|
|
R7189:Ppp2r3d
|
UTSW |
9 |
101,003,621 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7190:Ppp2r3d
|
UTSW |
9 |
101,089,726 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7288:Ppp2r3d
|
UTSW |
9 |
101,004,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7292:Ppp2r3d
|
UTSW |
9 |
101,089,871 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7512:Ppp2r3d
|
UTSW |
9 |
101,052,532 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7655:Ppp2r3d
|
UTSW |
9 |
101,088,911 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7656:Ppp2r3d
|
UTSW |
9 |
101,088,911 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7661:Ppp2r3d
|
UTSW |
9 |
124,442,696 (GRCm38) |
missense |
|
|
|
R7666:Ppp2r3d
|
UTSW |
9 |
124,440,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7769:Ppp2r3d
|
UTSW |
9 |
124,439,087 (GRCm38) |
missense |
|
|
|
R8174:Ppp2r3d
|
UTSW |
9 |
101,090,501 (GRCm39) |
start gained |
probably benign |
|
|
R8195:Ppp2r3d
|
UTSW |
9 |
101,090,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Ppp2r3d
|
UTSW |
9 |
124,440,067 (GRCm38) |
missense |
|
|
|
R8344:Ppp2r3d
|
UTSW |
9 |
101,088,985 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8505:Ppp2r3d
|
UTSW |
9 |
124,439,084 (GRCm38) |
missense |
|
|
|
R8720:Ppp2r3d
|
UTSW |
9 |
101,089,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Ppp2r3d
|
UTSW |
9 |
124,439,649 (GRCm38) |
missense |
|
|
|
R8775:Ppp2r3d
|
UTSW |
9 |
101,004,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775-TAIL:Ppp2r3d
|
UTSW |
9 |
101,004,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8958:Ppp2r3d
|
UTSW |
9 |
101,088,634 (GRCm39) |
missense |
probably benign |
|
|
R9069:Ppp2r3d
|
UTSW |
9 |
101,090,006 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9210:Ppp2r3d
|
UTSW |
9 |
101,063,175 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9212:Ppp2r3d
|
UTSW |
9 |
101,063,175 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9300:Ppp2r3d
|
UTSW |
9 |
124,423,977 (GRCm38) |
missense |
unknown |
|
|
R9404:Ppp2r3d
|
UTSW |
9 |
101,025,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9465:Ppp2r3d
|
UTSW |
9 |
124,442,222 (GRCm38) |
missense |
|
|
|
R9477:Ppp2r3d
|
UTSW |
9 |
124,476,857 (GRCm38) |
missense |
|
|
|
R9538:Ppp2r3d
|
UTSW |
9 |
124,424,007 (GRCm38) |
missense |
unknown |
|
|
R9545:Ppp2r3d
|
UTSW |
9 |
101,089,214 (GRCm39) |
missense |
probably benign |
|
|
R9639:Ppp2r3d
|
UTSW |
9 |
101,022,713 (GRCm39) |
missense |
probably benign |
|
|
R9649:Ppp2r3d
|
UTSW |
9 |
124,440,831 (GRCm38) |
missense |
|
|
|
X0020:Ppp2r3d
|
UTSW |
9 |
101,089,238 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Ppp2r3d
|
UTSW |
9 |
101,003,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Ppp2r3d
|
UTSW |
9 |
124,476,815 (GRCm38) |
missense |
unknown |
|
|
Z1177:Ppp2r3d
|
UTSW |
9 |
124,422,692 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTTTCTGTAAGCTGCATGG -3'
(R):5'- GTTAGCACTGTGAACCATTATAGCAG -3'
Sequencing Primer
(F):5'- CTGTAAGCTGCATGGTTTGAATTTC -3'
(R):5'- CACTGTGAACCATTATAGCAGTGTAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation