Incidental Mutation 'R6823:Ppp2r3d'
ID |
537745 |
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 |
044935-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R6823 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 124439078 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000137530 Gene: ENSMUSG00000093803 AA Change: V113A
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 |
0.4553 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
98% (81/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
G |
15: 64,626,735 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
G |
13: 81,705,200 (GRCm39) |
F1537L |
probably damaging |
Het |
Aggf1 |
T |
C |
13: 95,501,231 (GRCm39) |
S384G |
probably benign |
Het |
Anxa8 |
A |
T |
14: 33,816,722 (GRCm39) |
D204V |
possibly damaging |
Het |
Asap3 |
A |
T |
4: 135,954,883 (GRCm39) |
E71V |
possibly damaging |
Het |
BC024139 |
T |
C |
15: 76,003,946 (GRCm39) |
*773W |
probably null |
Het |
Bckdhb |
T |
C |
9: 83,835,814 (GRCm39) |
V106A |
possibly damaging |
Het |
Cep250 |
A |
G |
2: 155,823,379 (GRCm39) |
D1010G |
probably benign |
Het |
Chrd |
T |
A |
16: 20,553,486 (GRCm39) |
L243Q |
probably damaging |
Het |
Cib2 |
G |
T |
9: 54,457,175 (GRCm39) |
L30I |
possibly damaging |
Het |
Cpsf7 |
T |
A |
19: 10,510,248 (GRCm39) |
L113* |
probably null |
Het |
Cubn |
T |
A |
2: 13,449,840 (GRCm39) |
I895L |
probably benign |
Het |
Cyp24a1 |
C |
A |
2: 170,329,899 (GRCm39) |
R351I |
probably benign |
Het |
Cyp2a12 |
A |
T |
7: 26,733,581 (GRCm39) |
D320V |
possibly damaging |
Het |
Dact1 |
C |
G |
12: 71,364,713 (GRCm39) |
P498R |
probably benign |
Het |
Diaph1 |
T |
A |
18: 38,009,436 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
T |
1: 53,495,863 (GRCm39) |
I3198N |
probably benign |
Het |
Dop1b |
A |
T |
16: 93,552,373 (GRCm39) |
I271F |
possibly damaging |
Het |
Elp1 |
A |
G |
4: 56,787,939 (GRCm39) |
Y331H |
probably damaging |
Het |
Erich3 |
C |
A |
3: 154,433,074 (GRCm39) |
F349L |
probably damaging |
Het |
Fam187b |
G |
C |
7: 30,688,715 (GRCm39) |
V358L |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,038,088 (GRCm39) |
H3913Q |
probably benign |
Het |
Fbxw7 |
G |
C |
3: 84,865,934 (GRCm39) |
E118D |
probably benign |
Het |
Fgf1 |
A |
G |
18: 38,980,161 (GRCm39) |
I71T |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,222,560 (GRCm39) |
I2007K |
probably damaging |
Het |
Galnt2 |
C |
G |
8: 125,050,750 (GRCm39) |
P130A |
probably benign |
Het |
H1f10 |
G |
A |
6: 87,958,284 (GRCm39) |
R19C |
probably damaging |
Het |
Hmga2 |
A |
C |
10: 120,311,929 (GRCm39) |
S14A |
possibly damaging |
Het |
Hoxb4 |
C |
T |
11: 96,209,480 (GRCm39) |
|
probably benign |
Het |
Hr |
A |
T |
14: 70,802,814 (GRCm39) |
I756F |
probably damaging |
Het |
Hspa1b |
A |
T |
17: 35,177,161 (GRCm39) |
S275T |
probably benign |
Het |
Kcnh1 |
T |
C |
1: 192,187,597 (GRCm39) |
*99R |
probably null |
Het |
Kit |
C |
A |
5: 75,813,309 (GRCm39) |
L864I |
probably benign |
Het |
Klk14 |
A |
T |
7: 43,343,880 (GRCm39) |
K196* |
probably null |
Het |
Lmod1 |
A |
G |
1: 135,252,905 (GRCm39) |
N53S |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,246,984 (GRCm39) |
M1235T |
probably benign |
Het |
Neurl3 |
T |
A |
1: 36,307,785 (GRCm39) |
K175* |
probably null |
Het |
Nlgn2 |
T |
A |
11: 69,716,750 (GRCm39) |
K597M |
probably damaging |
Het |
Npdc1 |
T |
C |
2: 25,299,121 (GRCm39) |
M306T |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,958,769 (GRCm39) |
|
probably null |
Het |
Or1p1b |
T |
C |
11: 74,130,522 (GRCm39) |
L44P |
probably damaging |
Het |
Or52m2 |
G |
A |
7: 102,263,693 (GRCm39) |
L168F |
probably damaging |
Het |
Or8b49 |
T |
C |
9: 38,506,201 (GRCm39) |
I228T |
possibly damaging |
Het |
Pbrm1 |
A |
T |
14: 30,806,747 (GRCm39) |
Y1042F |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,727,921 (GRCm39) |
|
probably benign |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Phf12 |
C |
T |
11: 77,913,337 (GRCm39) |
Q430* |
probably null |
Het |
Plaat5 |
A |
T |
19: 7,616,861 (GRCm39) |
|
probably benign |
Het |
Pld3 |
C |
T |
7: 27,235,322 (GRCm39) |
R302H |
probably damaging |
Het |
Plekha5 |
T |
C |
6: 140,471,584 (GRCm39) |
S112P |
probably benign |
Het |
Pmfbp1 |
T |
A |
8: 110,256,939 (GRCm39) |
S548T |
possibly damaging |
Het |
Ppa1 |
A |
T |
10: 61,503,382 (GRCm39) |
I220F |
probably damaging |
Het |
Psmg2 |
A |
T |
18: 67,781,927 (GRCm39) |
E164D |
possibly damaging |
Het |
Rarb |
T |
C |
14: 16,443,824 (GRCm38) |
R155G |
probably damaging |
Het |
Rnf215 |
T |
C |
11: 4,086,609 (GRCm39) |
L162S |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Rtkn2 |
G |
A |
10: 67,862,462 (GRCm39) |
V330M |
probably damaging |
Het |
Slc16a4 |
A |
T |
3: 107,218,814 (GRCm39) |
I472F |
probably benign |
Het |
Snx14 |
T |
C |
9: 88,276,435 (GRCm39) |
N617D |
possibly damaging |
Het |
Spire2 |
T |
C |
8: 124,083,466 (GRCm39) |
V150A |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,064,787 (GRCm39) |
R1904M |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,880,510 (GRCm39) |
E575G |
possibly damaging |
Het |
Tbxas1 |
A |
T |
6: 38,896,087 (GRCm39) |
M1L |
possibly damaging |
Het |
Tenm3 |
A |
T |
8: 48,709,872 (GRCm39) |
V1688D |
probably damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,297,780 (GRCm39) |
S207T |
probably damaging |
Het |
Timm44 |
A |
G |
8: 4,317,282 (GRCm39) |
F248L |
probably damaging |
Het |
Tmem161a |
T |
C |
8: 70,633,849 (GRCm39) |
L170P |
probably damaging |
Het |
Tmem63a |
A |
T |
1: 180,788,035 (GRCm39) |
Y263F |
possibly damaging |
Het |
Tnfsf9 |
C |
A |
17: 57,412,513 (GRCm39) |
L28I |
probably benign |
Het |
Tph2 |
T |
A |
10: 115,010,011 (GRCm39) |
N183I |
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,125,528 (GRCm39) |
I60T |
probably damaging |
Het |
Ubn1 |
T |
G |
16: 4,882,411 (GRCm39) |
S48A |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 37,989,842 (GRCm39) |
N2019S |
probably benign |
Het |
Wbp2 |
T |
C |
11: 115,977,736 (GRCm39) |
N6D |
probably benign |
Het |
Wdr59 |
T |
A |
8: 112,185,672 (GRCm39) |
E810V |
possibly damaging |
Het |
Wiz |
T |
C |
17: 32,579,395 (GRCm39) |
D220G |
probably damaging |
Het |
Yipf7 |
A |
G |
5: 69,674,413 (GRCm39) |
L244P |
probably damaging |
Het |
Zdhhc17 |
T |
C |
10: 110,790,972 (GRCm39) |
T366A |
possibly damaging |
Het |
Zfp169 |
A |
T |
13: 48,644,472 (GRCm39) |
|
probably benign |
Het |
Zfp707 |
C |
T |
15: 75,841,572 (GRCm39) |
|
probably benign |
Het |
Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
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 |
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'- ATGCCAATCACGAGGTCGAG -3'
(R):5'- GGCGTGACTTAGACCAAATGTG -3'
Sequencing Primer
(F):5'- AGGTCGACCTCCCTGTC -3'
(R):5'- TCACAGTTGGAGGTAGAG -3'
|
Posted On |
2018-10-18 |