Incidental Mutation 'R5820:Ppp2r3d'
| ID |
449871 |
| 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 |
043400-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R5820 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124422765 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 69
(A69T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180270]
[ENSMUST00000188509]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180270
AA Change: A103T
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136995
Gene: ENSMUSG00000093803
AA Change: A103T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
97 |
N/A |
INTRINSIC |
|
PDB:4I5N|E
|
98 |
150 |
6e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188509
AA Change: A69T
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140113
Gene: ENSMUSG00000093803
AA Change: A69T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
63 |
N/A |
INTRINSIC |
|
PDB:4I5N|E
|
65 |
116 |
2e-6 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,841,607 (GRCm39) |
Y596H |
probably benign |
Het |
| Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgef38 |
A |
T |
3: 132,866,560 (GRCm39) |
D192E |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,224,953 (GRCm39) |
F33L |
possibly damaging |
Het |
| Arid1b |
A |
G |
17: 5,046,529 (GRCm39) |
Y439C |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,093,675 (GRCm39) |
V875A |
probably benign |
Het |
| Bop1 |
G |
A |
15: 76,339,041 (GRCm39) |
P386S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,007,342 (GRCm39) |
H453R |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
| Chfr |
T |
A |
5: 110,310,605 (GRCm39) |
D475E |
possibly damaging |
Het |
| Clcn7 |
A |
C |
17: 25,368,026 (GRCm39) |
K208T |
probably damaging |
Het |
| Cmya5 |
G |
T |
13: 93,229,288 (GRCm39) |
N1933K |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,144,900 (GRCm39) |
T588A |
possibly damaging |
Het |
| Cwh43 |
G |
A |
5: 73,585,975 (GRCm39) |
W358* |
probably null |
Het |
| Cyfip2 |
A |
T |
11: 46,091,531 (GRCm39) |
W1130R |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,917,151 (GRCm39) |
S92G |
probably benign |
Het |
| Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
| Dzank1 |
C |
T |
2: 144,355,408 (GRCm39) |
V96M |
probably damaging |
Het |
| Ecscr |
C |
A |
18: 35,850,320 (GRCm39) |
V52F |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,949,365 (GRCm39) |
N712I |
probably damaging |
Het |
| Eva1a |
C |
T |
6: 82,048,154 (GRCm39) |
P11S |
probably benign |
Het |
| Fam187b |
T |
C |
7: 30,676,577 (GRCm39) |
C29R |
probably damaging |
Het |
| Fau |
T |
C |
19: 6,109,452 (GRCm39) |
V117A |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,685,374 (GRCm39) |
D369G |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,263,783 (GRCm39) |
F95L |
probably benign |
Het |
| Fkbp6 |
A |
T |
5: 135,368,774 (GRCm39) |
|
probably null |
Het |
| Fmo9 |
T |
C |
1: 166,492,170 (GRCm39) |
K367E |
possibly damaging |
Het |
| Gad2 |
T |
C |
2: 22,580,261 (GRCm39) |
V554A |
probably benign |
Het |
| Gm18025 |
T |
C |
12: 34,340,631 (GRCm39) |
D154G |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,693 (GRCm39) |
F34S |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,522 (GRCm39) |
I459T |
probably benign |
Het |
| Hpx |
A |
G |
7: 105,240,995 (GRCm39) |
I426T |
possibly damaging |
Het |
| Hspa9 |
T |
C |
18: 35,076,227 (GRCm39) |
T362A |
possibly damaging |
Het |
| Insr |
G |
A |
8: 3,205,976 (GRCm39) |
P1271L |
probably damaging |
Het |
| Jarid2 |
G |
A |
13: 45,055,777 (GRCm39) |
V328I |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,803,874 (GRCm39) |
S429P |
probably benign |
Het |
| Lats1 |
A |
T |
10: 7,581,672 (GRCm39) |
H819L |
probably damaging |
Het |
| Lmnb1 |
T |
A |
18: 56,873,858 (GRCm39) |
D421E |
possibly damaging |
Het |
| Lrp4 |
T |
C |
2: 91,322,960 (GRCm39) |
I1148T |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,569,332 (GRCm39) |
M1130L |
unknown |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,196,137 (GRCm39) |
Y554C |
probably damaging |
Het |
| Myl4 |
T |
C |
11: 104,474,806 (GRCm39) |
F52L |
probably damaging |
Het |
| Nol12 |
C |
T |
15: 78,824,680 (GRCm39) |
T169I |
probably benign |
Het |
| Nrde2 |
C |
T |
12: 100,098,546 (GRCm39) |
R707H |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,075,037 (GRCm39) |
V366M |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,895 (GRCm39) |
I289T |
possibly damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Polrmt |
C |
T |
10: 79,574,157 (GRCm39) |
|
probably null |
Het |
| Ppil4 |
A |
G |
10: 7,686,174 (GRCm39) |
D344G |
probably null |
Het |
| Prmt3 |
C |
T |
7: 49,498,554 (GRCm39) |
P487S |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 66,996,460 (GRCm39) |
L1209H |
probably damaging |
Het |
| Rnf115 |
G |
A |
3: 96,635,164 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
A |
G |
10: 42,672,241 (GRCm39) |
D185G |
possibly damaging |
Het |
| Sema4b |
T |
C |
7: 79,874,706 (GRCm39) |
S699P |
probably damaging |
Het |
| Serpinb3d |
T |
G |
1: 107,006,089 (GRCm39) |
E333A |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,274,112 (GRCm39) |
L426P |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,427,503 (GRCm39) |
I611M |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,394,219 (GRCm39) |
Y194N |
probably damaging |
Het |
| Tlr9 |
G |
A |
9: 106,099,906 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Vmn1r188 |
G |
A |
13: 22,272,256 (GRCm39) |
G70D |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,723,699 (GRCm39) |
M1901V |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,578,649 (GRCm39) |
D821E |
probably benign |
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 |
|
|
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 |
|
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'- AAGCCCATATCCCGGGTAAG -3'
(R):5'- AAAGCCTAAGCCTCTGGTGG -3'
Sequencing Primer
(F):5'- CATCTTCAAGGCCCCGC -3'
(R):5'- AGGTCGGTAAGAGTGGCTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation