Incidental Mutation 'R7769:Ppp2r3d'
| ID |
598480 |
| 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 |
045825-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R7769 (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 124439087 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 110
(H110R)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000137530
Gene: ENSMUSG00000093803
AA Change: H110R
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216394
|
| Meta Mutation Damage Score |
0.4245 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (71/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
| Abhd14b |
T |
C |
9: 106,328,819 (GRCm39) |
Y147H |
probably damaging |
Het |
| Adam26b |
C |
A |
8: 43,974,732 (GRCm39) |
R90L |
probably benign |
Het |
| Agt |
A |
T |
8: 125,291,289 (GRCm39) |
M6K |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,109,644 (GRCm39) |
S5P |
probably benign |
Het |
| Arhgef38 |
A |
C |
3: 132,855,383 (GRCm39) |
S235A |
unknown |
Het |
| Cabp5 |
A |
G |
7: 13,134,658 (GRCm39) |
D31G |
probably benign |
Het |
| Cacna1h |
T |
A |
17: 25,604,779 (GRCm39) |
D1178V |
probably damaging |
Het |
| Ccdc88a |
A |
T |
11: 29,432,381 (GRCm39) |
E1199D |
probably damaging |
Het |
| Cd244a |
A |
T |
1: 171,404,873 (GRCm39) |
I242F |
probably benign |
Het |
| Clpb |
G |
T |
7: 101,371,924 (GRCm39) |
R220L |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,610,319 (GRCm39) |
R638H |
probably damaging |
Het |
| Cnr1 |
A |
T |
4: 33,944,892 (GRCm39) |
M427L |
probably benign |
Het |
| Ctnnbl1 |
C |
T |
2: 157,579,390 (GRCm39) |
|
probably benign |
Het |
| Epb41l2 |
A |
T |
10: 25,369,471 (GRCm39) |
T597S |
probably benign |
Het |
| Epb41l3 |
T |
C |
17: 69,545,421 (GRCm39) |
Y163H |
probably damaging |
Het |
| Fgg |
A |
G |
3: 82,920,433 (GRCm39) |
|
probably null |
Het |
| Gm37240 |
A |
T |
3: 84,417,232 (GRCm39) |
D162E |
possibly damaging |
Het |
| Gm44511 |
T |
A |
6: 128,797,240 (GRCm39) |
T83S |
probably benign |
Het |
| Gm6685 |
T |
A |
11: 28,289,252 (GRCm39) |
Y188F |
probably benign |
Het |
| Gprin2 |
A |
T |
14: 33,917,570 (GRCm39) |
C67S |
probably benign |
Het |
| Grk6 |
A |
G |
13: 55,598,820 (GRCm39) |
D140G |
probably benign |
Het |
| Hps3 |
T |
C |
3: 20,072,972 (GRCm39) |
|
probably null |
Het |
| Hspb7 |
T |
C |
4: 141,151,335 (GRCm39) |
V159A |
possibly damaging |
Het |
| Ibsp |
A |
G |
5: 104,453,871 (GRCm39) |
N70D |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,458,050 (GRCm39) |
N196D |
probably damaging |
Het |
| Igfn1 |
A |
T |
1: 135,910,143 (GRCm39) |
F147Y |
possibly damaging |
Het |
| Iqca1 |
T |
G |
1: 90,005,532 (GRCm39) |
D492A |
possibly damaging |
Het |
| Klhl42 |
T |
C |
6: 146,993,358 (GRCm39) |
L110P |
possibly damaging |
Het |
| Krt12 |
C |
T |
11: 99,308,852 (GRCm39) |
R395Q |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Mttp |
A |
C |
3: 137,808,873 (GRCm39) |
L730R |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,571,803 (GRCm39) |
I239L |
unknown |
Het |
| Myo15a |
T |
C |
11: 60,399,975 (GRCm39) |
F1723L |
|
Het |
| Niban2 |
A |
G |
2: 32,809,844 (GRCm39) |
T314A |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,090,004 (GRCm39) |
D1137G |
|
Het |
| Nsf |
C |
T |
11: 103,819,665 (GRCm39) |
V35M |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,648,207 (GRCm39) |
I646K |
possibly damaging |
Het |
| Nwd2 |
A |
G |
5: 63,961,847 (GRCm39) |
N477S |
probably damaging |
Het |
| Or1p1 |
T |
A |
11: 74,179,589 (GRCm39) |
V39E |
probably damaging |
Het |
| P4ha3 |
A |
G |
7: 99,934,924 (GRCm39) |
D62G |
probably damaging |
Het |
| Palb2 |
G |
T |
7: 121,727,638 (GRCm39) |
D77E |
probably benign |
Het |
| Pcmtd2 |
T |
C |
2: 181,493,494 (GRCm39) |
V233A |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pgr |
C |
T |
9: 8,946,856 (GRCm39) |
T699I |
possibly damaging |
Het |
| Pknox2 |
C |
A |
9: 36,806,602 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
A |
11: 80,325,408 (GRCm39) |
|
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,736,001 (GRCm39) |
N59S |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,588,921 (GRCm39) |
D1662E |
possibly damaging |
Het |
| Rasip1 |
A |
G |
7: 45,278,239 (GRCm39) |
Y180C |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,033,900 (GRCm39) |
S393G |
probably benign |
Het |
| Rtn4r |
C |
T |
16: 17,969,153 (GRCm39) |
P194S |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,798,210 (GRCm39) |
G944D |
probably damaging |
Het |
| Scamp3 |
A |
G |
3: 89,085,298 (GRCm39) |
D23G |
probably damaging |
Het |
| Secisbp2l |
CTGGG |
C |
2: 125,613,465 (GRCm39) |
|
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,232 (GRCm39) |
I529T |
probably damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,564,473 (GRCm39) |
D502V |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,880,855 (GRCm39) |
I323T |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,007,930 (GRCm39) |
S279P |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,826,880 (GRCm39) |
V949D |
possibly damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,708,144 (GRCm39) |
S386P |
probably benign |
Het |
| Syt14 |
A |
G |
1: 192,666,632 (GRCm39) |
S91P |
unknown |
Het |
| Thpo |
C |
T |
16: 20,544,401 (GRCm39) |
A211T |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,992,530 (GRCm39) |
D716V |
probably damaging |
Het |
| Trbv26 |
A |
G |
6: 41,204,481 (GRCm39) |
Y8C |
probably benign |
Het |
| Tshr |
A |
G |
12: 91,505,044 (GRCm39) |
I661V |
probably damaging |
Het |
| Uvrag |
G |
A |
7: 98,628,928 (GRCm39) |
P380S |
probably damaging |
Het |
| Vkorc1 |
G |
T |
7: 127,493,696 (GRCm39) |
Y88* |
probably null |
Het |
| Vmn1r63 |
C |
T |
7: 5,806,369 (GRCm39) |
V88M |
probably damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,708,763 (GRCm39) |
Y37H |
probably damaging |
Het |
| Zap70 |
A |
G |
1: 36,809,983 (GRCm39) |
D31G |
probably benign |
Het |
| Zc3h12d |
G |
A |
10: 7,743,390 (GRCm39) |
A387T |
probably benign |
Het |
| Zfp438 |
C |
T |
18: 5,213,377 (GRCm39) |
R527H |
possibly 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 |
|
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'- ATGCCAATCACGAGGTCGAG -3'
(R):5'- ATTAGGTAGGCGTGACTTAGAC -3'
Sequencing Primer
(F):5'- AGGTCGACCTCCCTGTC -3'
(R):5'- GCGTGACTTAGACCAAATGTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation