Incidental Mutation 'R7288:Ppp2r3d'
| ID |
566167 |
| 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 |
045395-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R7288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101004203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 378
(Y378C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066773]
[ENSMUST00000075941]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066773
AA Change: Y378C
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: Y378C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
140 |
169 |
1e-9 |
BLAST |
|
Pfam:EF-hand_7
|
282 |
380 |
2.6e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075941
AA Change: Y998C
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: Y998C
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,771,131 (GRCm39) |
D204E |
probably benign |
Het |
| Adh1 |
T |
G |
3: 137,988,493 (GRCm39) |
D155E |
probably benign |
Het |
| Akt1s1 |
T |
C |
7: 44,498,571 (GRCm39) |
L2P |
unknown |
Het |
| Ash1l |
T |
A |
3: 88,873,199 (GRCm39) |
|
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,641 (GRCm39) |
P228S |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,824,585 (GRCm39) |
E218G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,479,001 (GRCm39) |
F127Y |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,846 (GRCm39) |
H168Q |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,847,093 (GRCm39) |
T1612I |
possibly damaging |
Het |
| Col4a4 |
A |
T |
1: 82,470,184 (GRCm39) |
C782S |
unknown |
Het |
| Copg2 |
T |
A |
6: 30,801,341 (GRCm39) |
I364L |
probably damaging |
Het |
| Crygb |
A |
G |
1: 65,121,084 (GRCm39) |
L81P |
probably benign |
Het |
| Cyp4f18 |
A |
T |
8: 72,747,017 (GRCm39) |
M326K |
probably damaging |
Het |
| Dhx34 |
A |
G |
7: 15,949,361 (GRCm39) |
S356P |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,685,519 (GRCm39) |
Q855* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,787,007 (GRCm39) |
T343A |
probably damaging |
Het |
| Dnph1 |
A |
G |
17: 46,809,938 (GRCm39) |
N160S |
probably benign |
Het |
| Esrra |
A |
T |
19: 6,890,139 (GRCm39) |
C228* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,114,775 (GRCm39) |
N972D |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,888 (GRCm39) |
D2038G |
probably damaging |
Het |
| Fhit |
T |
A |
14: 9,763,784 (GRCm38) |
R102W |
probably damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,948,609 (GRCm39) |
D272V |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,651 (GRCm39) |
V286D |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,206 (GRCm39) |
M185K |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,490,821 (GRCm39) |
I311V |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,442,630 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ighv7-3 |
C |
T |
12: 114,116,963 (GRCm39) |
W66* |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,016,142 (GRCm39) |
I975N |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,921,262 (GRCm39) |
E281G |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,365,523 (GRCm39) |
T1369S |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,812,382 (GRCm39) |
D84E |
probably benign |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,059 (GRCm39) |
C164F |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,725,180 (GRCm39) |
Y131C |
probably damaging |
Het |
| Nacc1 |
C |
T |
8: 85,403,174 (GRCm39) |
A234T |
probably benign |
Het |
| Nsmaf |
C |
T |
4: 6,416,641 (GRCm39) |
V551I |
probably benign |
Het |
| Or13a26 |
T |
A |
7: 140,284,942 (GRCm39) |
C259* |
probably null |
Het |
| Or7e175 |
T |
A |
9: 20,048,737 (GRCm39) |
Y108* |
probably null |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,068 (GRCm39) |
D71E |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pkm |
A |
G |
9: 59,576,196 (GRCm39) |
S127G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,479,227 (GRCm39) |
L1296H |
probably damaging |
Het |
| Ppil6 |
C |
G |
10: 41,374,524 (GRCm39) |
T135R |
probably benign |
Het |
| Rabep2 |
C |
T |
7: 126,043,377 (GRCm39) |
R426C |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,845,976 (GRCm39) |
H31Q |
possibly damaging |
Het |
| Rad50 |
G |
T |
11: 53,545,776 (GRCm39) |
Y1182* |
probably null |
Het |
| Serpinb9c |
C |
T |
13: 33,335,883 (GRCm39) |
A218T |
possibly damaging |
Het |
| Slc34a1 |
C |
A |
13: 24,003,095 (GRCm39) |
H248Q |
probably benign |
Het |
| Slc45a4 |
C |
A |
15: 73,458,785 (GRCm39) |
E255* |
probably null |
Het |
| Slc8a3 |
T |
A |
12: 81,263,598 (GRCm39) |
K596N |
possibly damaging |
Het |
| Tbc1d32 |
A |
C |
10: 55,927,483 (GRCm39) |
|
probably null |
Het |
| Tbl2 |
T |
A |
5: 135,183,253 (GRCm39) |
I112N |
possibly damaging |
Het |
| Tchp |
A |
C |
5: 114,853,630 (GRCm39) |
K238T |
probably damaging |
Het |
| Tfap2d |
G |
A |
1: 19,189,207 (GRCm39) |
G251D |
probably damaging |
Het |
| Thrb |
T |
A |
14: 18,030,186 (GRCm38) |
M324K |
probably damaging |
Het |
| Tmem259 |
A |
T |
10: 79,814,300 (GRCm39) |
L328Q |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,249,469 (GRCm39) |
H88R |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,709 (GRCm39) |
H107R |
possibly damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,471 (GRCm39) |
V347A |
probably benign |
Het |
| Ung |
T |
A |
5: 114,269,315 (GRCm39) |
L9* |
probably null |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,174 (GRCm39) |
V215F |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,065,286 (GRCm39) |
S1657P |
probably benign |
Het |
| Wdsub1 |
A |
T |
2: 59,708,487 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Zfp369 |
T |
G |
13: 65,432,832 (GRCm39) |
|
probably null |
Het |
| Zfp770 |
G |
T |
2: 114,026,142 (GRCm39) |
C642* |
probably null |
Het |
| Zfp981 |
C |
T |
4: 146,622,100 (GRCm39) |
R342C |
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,623,042 (GRCm39) |
V375G |
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 |
|
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 |
|
R8853:Ppp2r3d
|
UTSW |
9 |
101,090,110 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- ATCAGGACACGACAGAGCTC -3'
(R):5'- GTGAACCTATCTTTTAATGACTGAGCC -3'
Sequencing Primer
(F):5'- CTGTGTCCATTCTGTTTAAGGACGAC -3'
(R):5'- AATGACTGAGCCATCTCTCCCG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation