Incidental Mutation 'R8236:Ppp2r3d'
| ID |
637366 |
| 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 |
067668-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R8236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124440067 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 53
(H53R)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000137530
Gene: ENSMUSG00000093803
AA Change: H53R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4I5N|E
|
1 |
140 |
1e-71 |
PDB |
|
SCOP:d1hqva_
|
62 |
137 |
7e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189707
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
C |
T |
1: 85,974,115 (GRCm39) |
A144V |
possibly damaging |
Het |
| Actr8 |
A |
G |
14: 29,704,585 (GRCm39) |
I51M |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,671,747 (GRCm39) |
D143V |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,645,181 (GRCm39) |
S753R |
possibly damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Bicdl1 |
T |
C |
5: 115,787,618 (GRCm39) |
H527R |
probably benign |
Het |
| Birc6 |
G |
C |
17: 74,918,126 (GRCm39) |
L1845F |
probably damaging |
Het |
| Brip1 |
C |
A |
11: 86,029,938 (GRCm39) |
D569Y |
probably damaging |
Het |
| Cab39 |
T |
C |
1: 85,776,092 (GRCm39) |
L263P |
probably damaging |
Het |
| Cblb |
C |
A |
16: 51,986,392 (GRCm39) |
P545Q |
possibly damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,160,722 (GRCm39) |
P1579Q |
probably benign |
Het |
| Cdt1 |
A |
G |
8: 123,298,767 (GRCm39) |
E468G |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,097,024 (GRCm39) |
|
probably null |
Het |
| Coro2a |
A |
G |
4: 46,548,796 (GRCm39) |
I166T |
possibly damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,647,164 (GRCm39) |
A287T |
probably benign |
Het |
| Dcc |
C |
T |
18: 72,088,089 (GRCm39) |
V50I |
probably benign |
Het |
| Defb30 |
A |
T |
14: 63,287,216 (GRCm39) |
M19K |
unknown |
Het |
| Dync2h1 |
C |
A |
9: 7,080,363 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,618,905 (GRCm39) |
T1291A |
possibly damaging |
Het |
| Epyc |
A |
T |
10: 97,517,067 (GRCm39) |
N302Y |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,233,487 (GRCm39) |
T106I |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,059,729 (GRCm39) |
|
probably null |
Het |
| Fam171b |
G |
A |
2: 83,710,550 (GRCm39) |
E741K |
probably damaging |
Het |
| Fgfr1 |
G |
T |
8: 26,052,288 (GRCm39) |
E205* |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,293,670 (GRCm39) |
S469P |
probably benign |
Het |
| Gdpd3 |
A |
G |
7: 126,367,838 (GRCm39) |
K224E |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm43518 |
C |
T |
5: 124,072,285 (GRCm39) |
Q17* |
probably null |
Het |
| Gm4353 |
T |
C |
7: 115,682,618 (GRCm39) |
Y321C |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,711,311 (GRCm39) |
H631R |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,903,042 (GRCm39) |
|
probably null |
Het |
| Il9 |
T |
A |
13: 56,630,058 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,292,281 (GRCm39) |
|
probably null |
Het |
| Lhcgr |
A |
T |
17: 89,050,014 (GRCm39) |
L504* |
probably null |
Het |
| Mical3 |
A |
G |
6: 120,989,504 (GRCm39) |
V272A |
|
Het |
| Mup10 |
A |
G |
4: 60,537,562 (GRCm39) |
I63T |
probably damaging |
Het |
| Mxi1 |
C |
G |
19: 53,358,029 (GRCm39) |
P165R |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,690,131 (GRCm39) |
I179F |
probably benign |
Het |
| Or5w14 |
T |
A |
2: 87,542,104 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Ptpn4 |
A |
G |
1: 119,606,552 (GRCm39) |
V781A |
possibly damaging |
Het |
| Ptprt |
C |
T |
2: 161,528,988 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
C |
2: 119,531,695 (GRCm39) |
S141P |
probably damaging |
Het |
| Slc2a1 |
G |
C |
4: 118,990,454 (GRCm39) |
S226T |
probably benign |
Het |
| Smyd3 |
A |
C |
1: 179,233,205 (GRCm39) |
|
probably null |
Het |
| Sos1 |
T |
C |
17: 80,715,712 (GRCm39) |
E1015G |
probably benign |
Het |
| Sult1b1 |
G |
T |
5: 87,669,383 (GRCm39) |
T155N |
probably damaging |
Het |
| Tcam1 |
A |
G |
11: 106,177,243 (GRCm39) |
I412V |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,547 (GRCm39) |
P296S |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,096,542 (GRCm39) |
D193G |
probably null |
Het |
| Trem2 |
G |
T |
17: 48,658,934 (GRCm39) |
W233L |
probably benign |
Het |
| Trpm3 |
C |
A |
19: 22,964,772 (GRCm39) |
D1422E |
probably benign |
Het |
| Ttbk1 |
T |
G |
17: 46,781,655 (GRCm39) |
D366A |
probably damaging |
Het |
| Ttyh1 |
G |
A |
7: 4,128,547 (GRCm39) |
G148D |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,835 (GRCm39) |
M1259V |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,032,281 (GRCm39) |
D553V |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,079,135 (GRCm39) |
S941P |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,393 (GRCm39) |
Y15H |
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 |
|
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'- TGAACCTAACAGCTATGGGC -3'
(R):5'- TGCCCTTGTATCTGTCAGTG -3'
Sequencing Primer
(F):5'- AGTCAGGGGCATGGCTGAC -3'
(R):5'- GTATCTGTCAGTGACATTACTTCCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation