Incidental Mutation 'R1086:Ppp2r3d'
| ID |
85033 |
| 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 |
039172-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R1086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101031021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 245
(T245I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066773]
[ENSMUST00000075941]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066773
AA Change: T245I
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: T245I
| 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: T865I
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: T865I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195293
|
| Meta Mutation Damage Score |
0.1230 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,334,220 (GRCm39) |
|
probably benign |
Het |
| Agbl4 |
G |
C |
4: 110,335,791 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,847,843 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
C |
G |
7: 25,327,736 (GRCm39) |
N55K |
probably damaging |
Het |
| Brox |
A |
G |
1: 183,064,052 (GRCm39) |
Y252H |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,380,890 (GRCm39) |
K605* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,866,458 (GRCm39) |
T877A |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,559,151 (GRCm39) |
I2371F |
probably damaging |
Het |
| Cwc22 |
T |
A |
2: 77,754,824 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
A |
T |
7: 25,505,422 (GRCm39) |
D347E |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,185,769 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
G |
A |
1: 86,917,871 (GRCm39) |
D493N |
probably benign |
Het |
| Got1l1 |
A |
G |
8: 27,688,007 (GRCm39) |
W341R |
probably damaging |
Het |
| Gps2 |
A |
G |
11: 69,806,050 (GRCm39) |
|
probably benign |
Het |
| Haus1 |
A |
C |
18: 77,854,553 (GRCm39) |
|
probably benign |
Het |
| Itgam |
T |
C |
7: 127,679,436 (GRCm39) |
S193P |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,251,543 (GRCm39) |
A1034S |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,699,476 (GRCm39) |
R270G |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,703 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,552,876 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,862,813 (GRCm39) |
M1387K |
probably damaging |
Het |
| Nwd2 |
C |
T |
5: 63,963,917 (GRCm39) |
S1167L |
probably damaging |
Het |
| Or5h19 |
T |
A |
16: 58,856,626 (GRCm39) |
H158L |
probably damaging |
Het |
| Pfkm |
T |
C |
15: 98,029,546 (GRCm39) |
V719A |
probably benign |
Het |
| Ppfia3 |
C |
G |
7: 45,011,182 (GRCm39) |
G16A |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,051,495 (GRCm39) |
T256A |
probably damaging |
Het |
| Ptprg |
C |
T |
14: 11,952,706 (GRCm38) |
|
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,359,458 (GRCm39) |
V7A |
probably damaging |
Het |
| Rnh1 |
T |
G |
7: 140,743,282 (GRCm39) |
Q231P |
probably benign |
Het |
| Rwdd2b |
C |
T |
16: 87,233,446 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
T |
C |
7: 46,338,883 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
G |
A |
18: 31,783,673 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
G |
12: 103,730,046 (GRCm39) |
M379L |
probably benign |
Het |
| Skor2 |
A |
C |
18: 76,946,994 (GRCm39) |
S239R |
unknown |
Het |
| Slc16a13 |
A |
G |
11: 70,109,850 (GRCm39) |
L217P |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,679,693 (GRCm39) |
M74T |
probably benign |
Het |
| Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,227 (GRCm39) |
E1637D |
possibly damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tg |
A |
C |
15: 66,555,911 (GRCm39) |
I868L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,937,853 (GRCm39) |
V395I |
possibly damaging |
Het |
| Uba6 |
C |
A |
5: 86,275,578 (GRCm39) |
C739F |
probably benign |
Het |
| Unc5d |
A |
C |
8: 29,365,658 (GRCm39) |
V109G |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,013,000 (GRCm39) |
K507N |
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 |
|
|
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 |
|
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'- ACAGCCTTTTCCCCACATGAGTAAC -3'
(R):5'- CCAGTTTGACAGCCATCCTCTGAC -3'
Sequencing Primer
(F):5'- TCCCCACATGAGTAACTGATAAGTG -3'
(R):5'- CACTACTGAATAAGGTGTCCCTGTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation