Incidental Mutation 'R6927:Ppp2r3d'
| ID |
541162 |
| 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 |
045044-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R6927 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 101052547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Aspartic acid
at position 221
(H221D)
|
| 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: H221D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: H221D
| 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 |
probably damaging
Transcript: ENSMUST00000075941
AA Change: H841D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: H841D
| 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 |
|
| Meta Mutation Damage Score |
0.6824 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,317 (GRCm39) |
W229R |
probably damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,998 (GRCm39) |
|
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,930,968 (GRCm39) |
N936I |
probably damaging |
Het |
| Ass1 |
T |
C |
2: 31,404,813 (GRCm39) |
S365P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,935,072 (GRCm39) |
K208E |
possibly damaging |
Het |
| Bag6 |
G |
A |
17: 35,364,898 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
T |
11: 106,945,421 (GRCm39) |
V2491E |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,904,619 (GRCm39) |
R83W |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,126,434 (GRCm39) |
F396L |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,893,546 (GRCm39) |
P439S |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,364,770 (GRCm39) |
H4279N |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,929,038 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,699,115 (GRCm39) |
D2386V |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,477,532 (GRCm39) |
V2170I |
probably benign |
Het |
| Fdps |
T |
C |
3: 89,000,958 (GRCm39) |
R374G |
probably benign |
Het |
| Fhl5 |
T |
C |
4: 25,213,681 (GRCm39) |
D85G |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,861 (GRCm39) |
M144V |
possibly damaging |
Het |
| Gask1b |
T |
C |
3: 79,848,769 (GRCm39) |
I505T |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,765 (GRCm39) |
S135P |
probably damaging |
Het |
| Hey2 |
A |
T |
10: 30,710,413 (GRCm39) |
D113E |
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 102,923,807 (GRCm39) |
I201N |
probably damaging |
Het |
| Ighv1-50 |
A |
T |
12: 115,083,794 (GRCm39) |
W3R |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,380,348 (GRCm39) |
I208T |
probably benign |
Het |
| Iqcj |
T |
C |
3: 67,954,624 (GRCm39) |
L43P |
possibly damaging |
Het |
| Itga10 |
T |
C |
3: 96,564,030 (GRCm39) |
F895L |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,706,435 (GRCm39) |
C850R |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,208,205 (GRCm39) |
I341N |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,168,567 (GRCm39) |
R621* |
probably null |
Het |
| Lipm |
T |
C |
19: 34,078,563 (GRCm39) |
|
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,098,441 (GRCm39) |
D286V |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,225,411 (GRCm39) |
V27E |
possibly damaging |
Het |
| Map4k4 |
T |
A |
1: 40,050,842 (GRCm39) |
H768Q |
probably benign |
Het |
| Mgat4d |
A |
G |
8: 84,081,496 (GRCm39) |
N83S |
probably benign |
Het |
| Nucb1 |
C |
T |
7: 45,148,282 (GRCm39) |
R141H |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,491 (GRCm39) |
K274E |
possibly damaging |
Het |
| Pcdhga2 |
A |
C |
18: 37,803,719 (GRCm39) |
D521A |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,964,586 (GRCm39) |
V251A |
probably benign |
Het |
| Pdf |
A |
T |
8: 107,774,833 (GRCm39) |
M133K |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,166,057 (GRCm39) |
F2058S |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,915,982 (GRCm39) |
|
probably null |
Het |
| Prl2c5 |
A |
T |
13: 13,357,503 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,947,663 (GRCm39) |
M49L |
probably benign |
Het |
| Rdh16f1 |
T |
C |
10: 127,624,561 (GRCm39) |
V133A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,778,946 (GRCm39) |
D389V |
probably damaging |
Het |
| Slc22a23 |
G |
T |
13: 34,528,362 (GRCm39) |
A140D |
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,641,573 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,020,519 (GRCm39) |
M284L |
probably damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,895 (GRCm39) |
I19F |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,103,300 (GRCm39) |
H812R |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,057 (GRCm39) |
S174G |
possibly damaging |
Het |
| Vstm4 |
T |
A |
14: 32,585,959 (GRCm39) |
|
probably null |
Het |
| Vwc2 |
C |
A |
11: 11,104,250 (GRCm39) |
P261T |
probably damaging |
Het |
| Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
| Zfp335 |
A |
G |
2: 164,735,640 (GRCm39) |
C1105R |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,755 (GRCm39) |
L136P |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,803,983 (GRCm39) |
R2575H |
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 |
|
|
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'- AGACCTCTTAAGTATTGACCCACAAG -3'
(R):5'- AAGATTTGCTCAACTCTCAGCC -3'
Sequencing Primer
(F):5'- CTTAAGTATTGACCCACAAGTGAAGG -3'
(R):5'- TCTCAGCCTATTCCACACAAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation