Incidental Mutation 'R6776:Ppp2r3d'
| ID |
531302 |
| 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 |
044892-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R6776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101090061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 87
(H87Q)
|
| 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: H87Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: H87Q
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
A |
G |
8: 10,038,075 (GRCm39) |
H224R |
probably benign |
Het |
| Anapc10 |
T |
C |
8: 80,446,374 (GRCm39) |
F68S |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,268,830 (GRCm39) |
N981S |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,804,670 (GRCm39) |
S6T |
possibly damaging |
Het |
| Cfap73 |
A |
G |
5: 120,772,276 (GRCm39) |
F9L |
probably damaging |
Het |
| Chd3 |
A |
C |
11: 69,245,296 (GRCm39) |
L1141V |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 72,036,582 (GRCm39) |
L1052F |
possibly damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,027,041 (GRCm39) |
R2050C |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,295,385 (GRCm39) |
Q552* |
probably null |
Het |
| Dysf |
A |
G |
6: 84,041,876 (GRCm39) |
D160G |
possibly damaging |
Het |
| Ecrg4 |
C |
A |
1: 43,781,551 (GRCm39) |
N144K |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,804,318 (GRCm39) |
I338M |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,425,073 (GRCm39) |
I518T |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,139,236 (GRCm39) |
S248P |
probably damaging |
Het |
| Gm5592 |
C |
G |
7: 40,939,153 (GRCm39) |
P812A |
probably damaging |
Het |
| Grik2 |
G |
A |
10: 49,232,085 (GRCm39) |
L482F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,394,288 (GRCm39) |
G202D |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,491,574 (GRCm39) |
A3671T |
possibly damaging |
Het |
| Hexa |
G |
T |
9: 59,465,355 (GRCm39) |
W203C |
probably damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,042,700 (GRCm39) |
T1217S |
probably benign |
Het |
| Ipo7 |
A |
G |
7: 109,646,272 (GRCm39) |
D557G |
probably damaging |
Het |
| Irx3 |
T |
A |
8: 92,526,463 (GRCm39) |
T414S |
probably benign |
Het |
| Jakmip1 |
G |
A |
5: 37,344,498 (GRCm39) |
E1313K |
probably damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,248 (GRCm39) |
D194G |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,476,298 (GRCm39) |
L46P |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,374,817 (GRCm39) |
I329T |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,661,817 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
C |
14: 79,650,521 (GRCm39) |
V323A |
probably damaging |
Het |
| Oas3 |
A |
T |
5: 120,896,939 (GRCm39) |
I894N |
probably damaging |
Het |
| Oplah |
C |
T |
15: 76,185,053 (GRCm39) |
V887I |
possibly damaging |
Het |
| Pag1 |
T |
C |
3: 9,764,848 (GRCm39) |
T102A |
probably benign |
Het |
| Pcnx1 |
C |
T |
12: 82,009,496 (GRCm39) |
A1181V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,701,510 (GRCm39) |
Y1475* |
probably null |
Het |
| Pla2g5 |
A |
G |
4: 138,527,964 (GRCm39) |
S101P |
probably benign |
Het |
| Plekha4 |
C |
A |
7: 45,184,241 (GRCm39) |
A76E |
probably damaging |
Het |
| Plk2 |
T |
C |
13: 110,536,325 (GRCm39) |
I592T |
probably benign |
Het |
| Ppp2r3c |
T |
A |
12: 55,345,252 (GRCm39) |
R79* |
probably null |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Prrt4 |
G |
T |
6: 29,176,551 (GRCm39) |
T258K |
possibly damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,083,194 (GRCm39) |
|
probably null |
Het |
| Slc11a1 |
T |
A |
1: 74,423,244 (GRCm39) |
I365N |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,612,108 (GRCm39) |
G265D |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,555,636 (GRCm39) |
T83S |
possibly damaging |
Het |
| Tln2 |
A |
G |
9: 67,170,187 (GRCm39) |
S1989P |
probably damaging |
Het |
| Tnfaip3 |
T |
G |
10: 18,881,324 (GRCm39) |
T321P |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,808,320 (GRCm39) |
P1623L |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,601 (GRCm39) |
N85S |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,788,066 (GRCm39) |
R3544* |
probably null |
Het |
| Ttf2 |
A |
T |
3: 100,859,869 (GRCm39) |
V695E |
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,720,512 (GRCm39) |
E509G |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,767,709 (GRCm39) |
I94V |
probably damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,031,911 (GRCm39) |
Q2304K |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,200,935 (GRCm39) |
Y33C |
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 |
|
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'- GGCCACAGAGTAAGTCAAAATC -3'
(R):5'- TTATTGCACTGGAACCTGCC -3'
Sequencing Primer
(F):5'- ACTGACCTCCTATTAAATGAGTCAG -3'
(R):5'- TATTGCACTGGAACCTGCCATACC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation