Incidental Mutation 'R7512:Ppp2r3d'
| ID |
582160 |
| 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 |
045585-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R7512 (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 101052532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 226
(T226A)
|
| 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: T226A
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: T226A
| 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: T846A
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: T846A
| 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 |
0.3184 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
T |
11: 109,829,275 (GRCm39) |
A1395T |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,826,691 (GRCm39) |
K1787E |
|
Het |
| Atg2a |
C |
T |
19: 6,310,106 (GRCm39) |
A1763V |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,187,457 (GRCm39) |
I1637V |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,648,740 (GRCm39) |
T20A |
probably benign |
Het |
| Ccnt2 |
T |
A |
1: 127,730,031 (GRCm39) |
S303T |
possibly damaging |
Het |
| Cdh3 |
C |
T |
8: 107,265,640 (GRCm39) |
Q228* |
probably null |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Dock2 |
A |
C |
11: 34,262,542 (GRCm39) |
C938G |
possibly damaging |
Het |
| Dync1i1 |
G |
T |
6: 5,969,410 (GRCm39) |
V412L |
possibly damaging |
Het |
| Eif1ad6 |
G |
T |
12: 87,668,751 (GRCm39) |
E128* |
probably null |
Het |
| Entrep2 |
C |
T |
7: 64,805,918 (GRCm39) |
A52T |
probably benign |
Het |
| Fam185a |
G |
A |
5: 21,652,356 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
G |
8: 72,169,507 (GRCm39) |
L133P |
possibly damaging |
Het |
| Galnt12 |
G |
A |
4: 47,108,406 (GRCm39) |
R181H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,310,977 (GRCm39) |
V85A |
possibly damaging |
Het |
| Gm12185 |
A |
T |
11: 48,806,717 (GRCm39) |
I158K |
probably benign |
Het |
| Gm5624 |
T |
C |
14: 44,799,312 (GRCm39) |
R82G |
|
Het |
| Grap2 |
A |
C |
15: 80,532,754 (GRCm39) |
N307T |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,080,405 (GRCm39) |
F147L |
probably benign |
Het |
| Haspin |
A |
T |
11: 73,027,418 (GRCm39) |
I557N |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,435,172 (GRCm39) |
K961N |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,872,647 (GRCm39) |
M2495T |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,877,393 (GRCm39) |
|
probably null |
Het |
| Impdh1 |
T |
C |
6: 29,207,168 (GRCm39) |
I59V |
probably benign |
Het |
| Kcnn1 |
A |
T |
8: 71,307,293 (GRCm39) |
L200Q |
possibly damaging |
Het |
| Kif5c |
T |
A |
2: 49,590,977 (GRCm39) |
H276Q |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,929,001 (GRCm39) |
L1259P |
probably damaging |
Het |
| Krtap4-1 |
A |
T |
11: 99,518,859 (GRCm39) |
C50* |
probably null |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lrrc41 |
A |
G |
4: 115,950,191 (GRCm39) |
T535A |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,164,907 (GRCm39) |
V757D |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,288,874 (GRCm39) |
R642L |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,175,343 (GRCm39) |
|
probably null |
Het |
| Mpl |
A |
T |
4: 118,306,089 (GRCm39) |
I384N |
|
Het |
| Mtmr14 |
C |
T |
6: 113,245,652 (GRCm39) |
Q409* |
probably null |
Het |
| Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,274,716 (GRCm39) |
Y28C |
probably damaging |
Het |
| Or2z8 |
T |
A |
8: 72,812,367 (GRCm39) |
I281N |
probably damaging |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,040 (GRCm39) |
I255T |
possibly damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,390 (GRCm39) |
N127Y |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,477,214 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,815,418 (GRCm39) |
D636E |
probably damaging |
Het |
| Pdgfra |
A |
T |
5: 75,355,675 (GRCm39) |
R1062* |
probably null |
Het |
| Pds5b |
T |
C |
5: 150,711,807 (GRCm39) |
F922L |
probably damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,150,953 (GRCm39) |
|
probably null |
Het |
| Ptprh |
G |
A |
7: 4,574,780 (GRCm39) |
T413I |
possibly damaging |
Het |
| Rora |
C |
A |
9: 69,281,367 (GRCm39) |
D382E |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,441,879 (GRCm39) |
N1308K |
probably benign |
Het |
| Sgce |
C |
T |
6: 4,707,192 (GRCm39) |
D218N |
possibly damaging |
Het |
| Slc34a3 |
A |
T |
2: 25,122,253 (GRCm39) |
|
probably null |
Het |
| Slit1 |
T |
C |
19: 41,589,074 (GRCm39) |
Y1471C |
probably damaging |
Het |
| Smarca2 |
G |
T |
19: 26,661,209 (GRCm39) |
V935L |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,688,364 (GRCm39) |
N1298S |
possibly damaging |
Het |
| Sort1 |
T |
A |
3: 108,233,323 (GRCm39) |
|
probably null |
Het |
| Spata13 |
T |
C |
14: 60,989,226 (GRCm39) |
L964P |
probably damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,128,469 (GRCm39) |
L1514F |
probably benign |
Het |
| Trav7-6 |
C |
A |
14: 53,954,552 (GRCm39) |
D47E |
probably benign |
Het |
| Ubap2l |
A |
G |
3: 89,917,803 (GRCm39) |
F864L |
unknown |
Het |
| Vmn2r102 |
C |
T |
17: 19,914,363 (GRCm39) |
P643S |
probably damaging |
Het |
| Zfp112 |
T |
A |
7: 23,824,604 (GRCm39) |
C195S |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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'- AGACCTCTTAAGTATTGACCCAC -3'
(R):5'- AAGATTTGCTCAACTCTCAGCC -3'
Sequencing Primer
(F):5'- CCTCTTAAGTATTGACCCACAAGTG -3'
(R):5'- TCTCAGCCTATTCCACACAAGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation