Incidental Mutation 'R1857:Ppp2r3d'
| ID |
206244 |
| 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 |
039881-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R1857 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101090092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 77
(N77I)
|
| 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: N77I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: N77I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191226
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,766,789 (GRCm39) |
I57N |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,960,592 (GRCm39) |
S685P |
probably damaging |
Het |
| Adpgk |
G |
T |
9: 59,222,248 (GRCm39) |
V392L |
probably benign |
Het |
| Akap14 |
C |
T |
X: 36,420,779 (GRCm39) |
A476T |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,367,416 (GRCm39) |
I246N |
probably damaging |
Het |
| Amhr2 |
T |
A |
15: 102,355,212 (GRCm39) |
L165* |
probably null |
Het |
| Atr |
T |
A |
9: 95,747,150 (GRCm39) |
I144N |
probably damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,939,991 (GRCm39) |
N750S |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,159,076 (GRCm39) |
I2233T |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,324 (GRCm39) |
V774F |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,632,518 (GRCm39) |
T362K |
possibly damaging |
Het |
| Cnih3 |
A |
G |
1: 181,277,638 (GRCm39) |
H101R |
probably damaging |
Het |
| Crebrf |
T |
A |
17: 26,961,937 (GRCm39) |
Y345N |
probably benign |
Het |
| Cyb5r4 |
C |
T |
9: 86,923,332 (GRCm39) |
S185L |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,547,723 (GRCm39) |
E173G |
possibly damaging |
Het |
| Cyp3a41b |
T |
A |
5: 145,503,660 (GRCm39) |
I296F |
probably benign |
Het |
| Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
| Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,629,059 (GRCm39) |
F4205L |
probably damaging |
Het |
| Eif3a |
A |
C |
19: 60,770,635 (GRCm39) |
L71V |
probably damaging |
Het |
| Eif3h |
T |
C |
15: 51,662,674 (GRCm39) |
Y124C |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,903,187 (GRCm39) |
Q1169L |
possibly damaging |
Het |
| Endod1 |
T |
A |
9: 14,268,405 (GRCm39) |
H360L |
probably benign |
Het |
| Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,562,294 (GRCm39) |
T738S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,957,539 (GRCm39) |
T148S |
probably damaging |
Het |
| Gm4894 |
T |
C |
9: 49,189,976 (GRCm39) |
S84P |
unknown |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Il1f10 |
A |
T |
2: 24,182,817 (GRCm39) |
D31V |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
| Meiob |
T |
C |
17: 25,042,544 (GRCm39) |
V124A |
probably damaging |
Het |
| Mmp11 |
A |
T |
10: 75,764,191 (GRCm39) |
D91E |
probably benign |
Het |
| Mpped2 |
T |
C |
2: 106,613,989 (GRCm39) |
Y108H |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,866,714 (GRCm39) |
V674A |
probably damaging |
Het |
| Mtor |
G |
T |
4: 148,565,336 (GRCm39) |
Q1015H |
probably damaging |
Het |
| Mylk3 |
G |
A |
8: 86,055,223 (GRCm39) |
T711I |
probably damaging |
Het |
| Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
| Neurl4 |
G |
T |
11: 69,796,361 (GRCm39) |
G435V |
probably damaging |
Het |
| Nipal2 |
A |
G |
15: 34,678,779 (GRCm39) |
S21P |
possibly damaging |
Het |
| Nphp1 |
T |
A |
2: 127,612,296 (GRCm39) |
D217V |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,898,493 (GRCm39) |
I432T |
possibly damaging |
Het |
| Oprd1 |
T |
G |
4: 131,840,992 (GRCm39) |
D322A |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,992 (GRCm39) |
L198P |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,346 (GRCm39) |
M83V |
possibly damaging |
Het |
| Or56a3b |
T |
G |
7: 104,770,751 (GRCm39) |
L29R |
probably benign |
Het |
| Pcdh10 |
C |
A |
3: 45,334,372 (GRCm39) |
Q229K |
possibly damaging |
Het |
| Pdlim7 |
G |
A |
13: 55,653,858 (GRCm39) |
T253M |
probably damaging |
Het |
| Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
| Pigc |
T |
G |
1: 161,798,446 (GRCm39) |
S143A |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
| Ppp2r1a |
T |
C |
17: 21,181,951 (GRCm39) |
S490P |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,692,770 (GRCm39) |
Y410C |
probably damaging |
Het |
| Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,163 (GRCm39) |
C213* |
probably null |
Het |
| Prpf8 |
T |
A |
11: 75,386,249 (GRCm39) |
|
probably null |
Het |
| Psmd7 |
A |
T |
8: 108,311,525 (GRCm39) |
N109K |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,224,549 (GRCm39) |
K936E |
possibly damaging |
Het |
| Ro60 |
T |
C |
1: 143,646,488 (GRCm39) |
T86A |
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,298,700 (GRCm39) |
Q691L |
probably damaging |
Het |
| Sars2 |
A |
G |
7: 28,449,437 (GRCm39) |
M322V |
probably benign |
Het |
| Scfd2 |
C |
A |
5: 74,372,962 (GRCm39) |
E638* |
probably null |
Het |
| Scgb3a2 |
A |
G |
18: 43,899,900 (GRCm39) |
T63A |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
| Smarcd1 |
A |
G |
15: 99,607,295 (GRCm39) |
K382E |
probably damaging |
Het |
| Sox5 |
T |
A |
6: 143,906,541 (GRCm39) |
S305C |
probably damaging |
Het |
| Sp5 |
C |
A |
2: 70,307,213 (GRCm39) |
H299Q |
possibly damaging |
Het |
| Stard13 |
T |
C |
5: 151,018,903 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,336,752 (GRCm39) |
F383L |
probably damaging |
Het |
| Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
T |
C |
5: 87,052,241 (GRCm39) |
T252A |
possibly damaging |
Het |
| Vangl2 |
A |
T |
1: 171,837,464 (GRCm39) |
L115Q |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,597 (GRCm39) |
I324T |
probably benign |
Het |
| Vwa5b1 |
A |
G |
4: 138,296,413 (GRCm39) |
F1205L |
probably damaging |
Het |
| Zfp951 |
G |
C |
5: 104,962,723 (GRCm39) |
T281R |
probably damaging |
Het |
| Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
|
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'- AAGCTGCATGGTTTGAATTTCTGAG -3'
(R):5'- CAGACTTGTGGTTAGCACTGTG -3'
Sequencing Primer
(F):5'- GCATGGTTTGAATTTCTGAGTTTTTC -3'
(R):5'- GCACTGTGAACCATTATAGCAGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation