Incidental Mutation 'R9545:Ppp2r3d'
| ID |
720065 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R9545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101089214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 370
(N370D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075941]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075941
AA Change: N370D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: N370D
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,416,538 (GRCm39) |
L4100Q |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,403,716 (GRCm39) |
P652T |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,582,338 (GRCm39) |
I228N |
possibly damaging |
Het |
| Ap5m1 |
C |
G |
14: 49,311,271 (GRCm39) |
Q114E |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,033,890 (GRCm39) |
T201I |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,696,233 (GRCm39) |
V14I |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,078,464 (GRCm39) |
N258S |
probably benign |
Het |
| Atxn1l |
C |
T |
8: 110,458,688 (GRCm39) |
V525M |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,644,804 (GRCm39) |
V208A |
probably benign |
Het |
| Bet1 |
A |
T |
6: 4,077,973 (GRCm39) |
S89T |
probably damaging |
Het |
| Cdhr1 |
T |
G |
14: 36,817,016 (GRCm39) |
N115T |
possibly damaging |
Het |
| Cstf1 |
C |
T |
2: 172,212,885 (GRCm39) |
|
probably benign |
Het |
| Dcdc2c |
G |
T |
12: 28,602,295 (GRCm39) |
T3K |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,519,120 (GRCm39) |
E129K |
possibly damaging |
Het |
| Dgkg |
T |
C |
16: 22,385,168 (GRCm39) |
E446G |
possibly damaging |
Het |
| Dolk |
A |
G |
2: 30,176,016 (GRCm39) |
S10P |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,800,977 (GRCm39) |
T406A |
probably benign |
Het |
| Gm8439 |
C |
T |
4: 120,445,957 (GRCm39) |
|
probably benign |
Het |
| Gna12 |
A |
G |
5: 140,746,575 (GRCm39) |
I290T |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,458,112 (GRCm39) |
|
probably null |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
| Kcnc3 |
T |
C |
7: 44,245,357 (GRCm39) |
L549P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,164 (GRCm39) |
D582G |
probably damaging |
Het |
| Lhfpl5 |
C |
A |
17: 28,799,079 (GRCm39) |
A196D |
probably damaging |
Het |
| Lipm |
T |
C |
19: 34,090,392 (GRCm39) |
M191T |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,483,329 (GRCm39) |
Y459H |
probably damaging |
Het |
| Lzts1 |
C |
A |
8: 69,591,286 (GRCm39) |
K287N |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mmp23 |
T |
A |
4: 155,735,980 (GRCm39) |
Q224L |
probably benign |
Het |
| Ms4a13 |
C |
G |
19: 11,147,332 (GRCm39) |
S194T |
unknown |
Het |
| Ms4a2 |
A |
G |
19: 11,596,237 (GRCm39) |
F164S |
probably benign |
Het |
| Nudt15 |
A |
T |
14: 73,760,918 (GRCm39) |
C58S |
probably damaging |
Het |
| Or2w25 |
A |
G |
11: 59,504,275 (GRCm39) |
T162A |
probably benign |
Het |
| Or8h6 |
T |
C |
2: 86,703,615 (GRCm39) |
I151V |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,217 (GRCm39) |
H20R |
possibly damaging |
Het |
| Panx3 |
A |
G |
9: 37,575,437 (GRCm39) |
F142L |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,422,365 (GRCm39) |
Y255H |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,106,840 (GRCm39) |
V637A |
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,337,504 (GRCm39) |
L602P |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,995,687 (GRCm39) |
I454N |
probably damaging |
Het |
| Pramel17 |
C |
A |
4: 101,693,097 (GRCm39) |
C301F |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,492,392 (GRCm39) |
V412A |
probably benign |
Het |
| Reep3 |
TTGACAGATTTCATG |
TTG |
10: 66,850,703 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skic3 |
T |
A |
13: 76,259,832 (GRCm39) |
V44D |
probably damaging |
Het |
| Spink5 |
G |
A |
18: 44,136,262 (GRCm39) |
V558I |
possibly damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,028,625 (GRCm39) |
|
probably null |
Het |
| Svs5 |
T |
A |
2: 164,079,313 (GRCm39) |
Q198L |
possibly damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,834 (GRCm39) |
N95K |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,336,112 (GRCm39) |
V718A |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,878,458 (GRCm39) |
E632K |
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,843,638 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,618,511 (GRCm39) |
I1163T |
probably benign |
Het |
| Vav2 |
C |
T |
2: 27,173,351 (GRCm39) |
R491Q |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,399,050 (GRCm39) |
F40I |
probably damaging |
Het |
| Wdfy3 |
A |
C |
5: 102,100,957 (GRCm39) |
I220R |
|
Het |
| Xrra1 |
T |
A |
7: 99,535,334 (GRCm39) |
V213D |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,051,415 (GRCm39) |
V550E |
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 |
|
|
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 |
|
|
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'- CATTTACCTGTAATGGTTCCTGAC -3'
(R):5'- CAGTCTGGGAATAACGAGACC -3'
Sequencing Primer
(F):5'- GGTTCCTGACCTTGTCCATTC -3'
(R):5'- GACCGTAGATTTGACAGAACTTATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation