Incidental Mutation 'R7661:Ppp2r3d'
| ID |
591572 |
| 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 |
045736-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R7661 (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 124442696 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 17
(F17L)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180233
|
| SMART Domains |
Protein: ENSMUSP00000137530
Gene: ENSMUSG00000093803
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4I5N|E
|
1 |
140 |
1e-71 |
PDB |
|
SCOP:d1hqva_
|
62 |
137 |
7e-4 |
SMART |
|
| Predicted Effect |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
A |
T |
12: 107,455,215 (GRCm39) |
K100N |
unknown |
Het |
| Abi3bp |
T |
A |
16: 56,453,263 (GRCm39) |
|
probably null |
Het |
| Akr1c20 |
T |
C |
13: 4,558,218 (GRCm39) |
D210G |
probably benign |
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Ascc1 |
A |
C |
10: 59,885,629 (GRCm39) |
N227H |
probably damaging |
Het |
| Atp5f1a |
G |
T |
18: 77,861,802 (GRCm39) |
A18S |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,558 (GRCm39) |
T84A |
possibly damaging |
Het |
| Blmh |
T |
A |
11: 76,877,341 (GRCm39) |
V419D |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 29,769,177 (GRCm39) |
P1918S |
probably benign |
Het |
| Calr4 |
T |
C |
4: 109,110,951 (GRCm39) |
V339A |
probably benign |
Het |
| Capza3 |
C |
A |
6: 139,987,498 (GRCm39) |
D32E |
probably benign |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Cldn20 |
T |
A |
17: 3,583,133 (GRCm39) |
M102K |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,734,841 (GRCm39) |
Q479R |
probably benign |
Het |
| Dpp10 |
A |
T |
1: 123,312,681 (GRCm39) |
I432N |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,295,434 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,617,503 (GRCm39) |
D741E |
probably benign |
Het |
| Fam135a |
C |
T |
1: 24,111,843 (GRCm39) |
|
probably null |
Het |
| Fam47e |
C |
T |
5: 92,735,384 (GRCm39) |
L206F |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,221,772 (GRCm39) |
R714H |
unknown |
Het |
| Hace1 |
T |
G |
10: 45,481,649 (GRCm39) |
V124G |
probably damaging |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,428 (GRCm39) |
Y396F |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,497,826 (GRCm39) |
I13M |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,865,122 (GRCm39) |
F517L |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,829,762 (GRCm39) |
T618A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,691,229 (GRCm39) |
T952A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,402,328 (GRCm39) |
I208K |
probably damaging |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,450,059 (GRCm39) |
I1744T |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,690,431 (GRCm39) |
R279W |
probably damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,244,761 (GRCm39) |
T646S |
probably damaging |
Het |
| Ndufa5 |
A |
G |
6: 24,518,724 (GRCm39) |
*117R |
probably null |
Het |
| Nudt18 |
A |
T |
14: 70,817,276 (GRCm39) |
E293D |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,426 (GRCm39) |
S75P |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,826 (GRCm39) |
V205E |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,529,558 (GRCm39) |
|
probably null |
Het |
| Ptprk |
T |
C |
10: 28,342,036 (GRCm39) |
I481T |
probably benign |
Het |
| Pygo2 |
T |
C |
3: 89,338,038 (GRCm39) |
|
probably null |
Het |
| Raet1d |
T |
C |
10: 22,248,156 (GRCm39) |
S225P |
possibly damaging |
Het |
| Rnf24 |
T |
C |
2: 131,164,135 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,298,687 (GRCm39) |
S687G |
probably damaging |
Het |
| Rsph9 |
A |
G |
17: 46,446,013 (GRCm39) |
S186P |
probably damaging |
Het |
| Sash1 |
C |
T |
10: 8,605,155 (GRCm39) |
M1078I |
probably benign |
Het |
| Scd4 |
C |
A |
19: 44,327,510 (GRCm39) |
D195E |
probably benign |
Het |
| Spopfm3 |
C |
T |
3: 94,105,709 (GRCm39) |
T9I |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 85,904,940 (GRCm39) |
C348R |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,151,827 (GRCm39) |
F1009S |
probably benign |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,149 (GRCm39) |
F23I |
probably benign |
Het |
| Vmn1r257 |
A |
G |
7: 22,391,229 (GRCm39) |
S172P |
probably benign |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,672,582 (GRCm39) |
N72K |
probably benign |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,135 (GRCm39) |
C322* |
probably null |
Het |
| Zfp839 |
C |
T |
12: 110,835,226 (GRCm39) |
T827I |
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 |
|
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'- TGATTGCGGTCAGTCAGAGAG -3'
(R):5'- ACATCATCTGCAGGCCCTTC -3'
Sequencing Primer
(F):5'- CCAGGATTGAGCGGGGTG -3'
(R):5'- TGCAGGCCCTTCCCACC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation