Incidental Mutation 'R8195:Ppp2r3d'
| ID |
635407 |
| 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 |
067618-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R8195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101090231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 31
(C31R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075941]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075941
AA Change: C31R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: C31R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,224,735 (GRCm39) |
G483R |
probably benign |
Het |
| Abca9 |
T |
C |
11: 110,029,155 (GRCm39) |
D801G |
probably benign |
Het |
| Aldob |
T |
C |
4: 49,538,822 (GRCm39) |
N232S |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,787,230 (GRCm39) |
V322A |
|
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arhgef40 |
T |
A |
14: 52,226,226 (GRCm39) |
V90E |
probably damaging |
Het |
| Cblc |
A |
T |
7: 19,519,262 (GRCm39) |
S399R |
possibly damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,456,211 (GRCm39) |
I368K |
possibly damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,456,213 (GRCm39) |
W369R |
probably damaging |
Het |
| Cd276 |
G |
A |
9: 58,444,755 (GRCm39) |
T72I |
probably damaging |
Het |
| Cdk14 |
C |
T |
5: 5,277,159 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
C |
T |
2: 145,789,095 (GRCm39) |
S33L |
probably benign |
Het |
| Cmtm2a |
A |
G |
8: 105,019,670 (GRCm39) |
F7L |
probably benign |
Het |
| Eif2ak4 |
T |
C |
2: 118,280,819 (GRCm39) |
I1062T |
possibly damaging |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fxr1 |
A |
T |
3: 34,101,878 (GRCm39) |
E204V |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,894,959 (GRCm39) |
L375Q |
probably damaging |
Het |
| Ggta1 |
T |
A |
2: 35,312,279 (GRCm39) |
E33V |
probably damaging |
Het |
| Gnb1l |
T |
A |
16: 18,362,965 (GRCm39) |
I119N |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,214,929 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
A |
G |
13: 14,480,692 (GRCm39) |
I885T |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,131,905 (GRCm39) |
D580G |
probably damaging |
Het |
| Kbtbd12 |
T |
A |
6: 88,594,913 (GRCm39) |
T306S |
possibly damaging |
Het |
| Kctd1 |
C |
T |
18: 15,196,300 (GRCm39) |
E108K |
unknown |
Het |
| Lrrc36 |
A |
G |
8: 106,178,717 (GRCm39) |
D304G |
possibly damaging |
Het |
| Lrrn2 |
A |
G |
1: 132,865,082 (GRCm39) |
E49G |
probably damaging |
Het |
| Lysmd2 |
C |
A |
9: 75,533,310 (GRCm39) |
Y88* |
probably null |
Het |
| Lzts3 |
A |
G |
2: 130,477,105 (GRCm39) |
S448P |
probably benign |
Het |
| Meioc |
T |
A |
11: 102,565,893 (GRCm39) |
L447* |
probably null |
Het |
| Mybpc1 |
A |
G |
10: 88,394,553 (GRCm39) |
I244T |
possibly damaging |
Het |
| Necab3 |
G |
A |
2: 154,389,363 (GRCm39) |
A160V |
probably benign |
Het |
| Nek8 |
G |
T |
11: 78,061,587 (GRCm39) |
P314Q |
possibly damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,112,762 (GRCm39) |
T140A |
probably benign |
Het |
| Or10p21 |
T |
C |
10: 128,847,444 (GRCm39) |
C97R |
probably damaging |
Het |
| Or52ac1 |
A |
T |
7: 104,246,133 (GRCm39) |
F85Y |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,780 (GRCm39) |
I45N |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pgm3 |
G |
A |
9: 86,452,374 (GRCm39) |
R29W |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,194,770 (GRCm39) |
S334N |
possibly damaging |
Het |
| Rai14 |
C |
T |
15: 10,575,302 (GRCm39) |
S581N |
probably benign |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rgs16 |
T |
C |
1: 153,616,689 (GRCm39) |
F42S |
probably benign |
Het |
| Slc2a6 |
T |
G |
2: 26,917,838 (GRCm39) |
E27A |
probably benign |
Het |
| Slc38a1 |
G |
A |
15: 96,490,447 (GRCm39) |
S110L |
probably benign |
Het |
| Sox30 |
C |
T |
11: 45,882,592 (GRCm39) |
R541C |
probably benign |
Het |
| Sptbn4 |
C |
A |
7: 27,108,314 (GRCm39) |
E703* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,993,470 (GRCm39) |
F34L |
probably damaging |
Het |
| Trim65 |
T |
C |
11: 116,017,037 (GRCm39) |
Q475R |
probably benign |
Het |
| Ttc38 |
A |
T |
15: 85,728,716 (GRCm39) |
R223* |
probably null |
Het |
| Tulp1 |
T |
C |
17: 28,583,300 (GRCm39) |
Q80R |
probably benign |
Het |
| Utp23 |
T |
C |
15: 51,745,598 (GRCm39) |
F139L |
possibly damaging |
Het |
| Vmn1r121 |
A |
T |
7: 20,832,228 (GRCm39) |
F71I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,225 (GRCm39) |
S535P |
possibly damaging |
Het |
| Zfp788 |
T |
G |
7: 41,298,801 (GRCm39) |
M479R |
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 |
|
|
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 |
|
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 |
|
|
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'- GTAGATGCTTTCTTGCCCCTGG -3'
(R):5'- ACCACTGAACGTTGTCATTGG -3'
Sequencing Primer
(F):5'- GTGAGGGCTTGATGGGGATAATC -3'
(R):5'- CTAAGTCCTACCATTGAGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation