Incidental Mutation 'R6254:Ppp2r3d'
ID |
505999 |
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 |
044371-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R6254 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
124195827-124204759 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101025786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 307
(D307G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066773]
[ENSMUST00000075941]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066773
AA Change: D307G
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000069688 Gene: ENSMUSG00000043154 AA Change: D307G
Domain | Start | End | E-Value | Type |
Blast:EFh
|
140 |
169 |
1e-9 |
BLAST |
Pfam:EF-hand_7
|
282 |
380 |
2.6e-17 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075941
AA Change: D927G
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000075327 Gene: ENSMUSG00000043154 AA Change: D927G
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: ENSMUST00000188612
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195293
|
Meta Mutation Damage Score |
0.1713 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.4%
|
Validation Efficiency |
100% (82/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
T |
12: 113,453,190 (GRCm39) |
L2F |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,735,453 (GRCm39) |
|
probably benign |
Het |
Anpep |
T |
G |
7: 79,488,981 (GRCm39) |
D369A |
probably damaging |
Het |
App |
T |
C |
16: 84,775,065 (GRCm39) |
E599G |
probably damaging |
Het |
Asphd1 |
C |
T |
7: 126,548,040 (GRCm39) |
V88I |
probably benign |
Het |
Atad5 |
A |
T |
11: 80,018,215 (GRCm39) |
I1389F |
probably damaging |
Het |
Blm |
T |
C |
7: 80,130,090 (GRCm39) |
N950S |
probably benign |
Het |
Bsn |
A |
T |
9: 107,989,065 (GRCm39) |
M2229K |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,386,415 (GRCm39) |
M181V |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,329,162 (GRCm39) |
|
probably null |
Het |
Cdh1 |
T |
A |
8: 107,390,430 (GRCm39) |
V590D |
probably damaging |
Het |
Cdk5rap2 |
G |
A |
4: 70,282,269 (GRCm39) |
T160M |
probably damaging |
Het |
Cfap97d2 |
A |
G |
8: 13,756,043 (GRCm39) |
D26G |
possibly damaging |
Het |
Cfhr4 |
A |
G |
1: 139,682,128 (GRCm39) |
I156T |
probably damaging |
Het |
Chrna5 |
A |
G |
9: 54,913,740 (GRCm39) |
M325V |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,507,895 (GRCm39) |
I116T |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 43,993,902 (GRCm39) |
K488R |
probably benign |
Het |
Edil3 |
T |
A |
13: 89,467,848 (GRCm39) |
I451N |
probably damaging |
Het |
Exph5 |
T |
G |
9: 53,284,010 (GRCm39) |
S364A |
possibly damaging |
Het |
Fam98c |
A |
G |
7: 28,853,942 (GRCm39) |
S209P |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,907,441 (GRCm39) |
L2854F |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,638,571 (GRCm39) |
|
probably null |
Het |
Fermt2 |
T |
C |
14: 45,713,516 (GRCm39) |
D205G |
probably damaging |
Het |
Fmnl1 |
G |
A |
11: 103,087,141 (GRCm39) |
|
probably benign |
Het |
Fn3k |
A |
G |
11: 121,325,894 (GRCm39) |
E27G |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,815,098 (GRCm39) |
H378R |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,938,045 (GRCm39) |
K140E |
possibly damaging |
Het |
Gm7694 |
A |
T |
1: 170,130,103 (GRCm39) |
C98* |
probably null |
Het |
Golgb1 |
T |
C |
16: 36,734,340 (GRCm39) |
S1196P |
probably damaging |
Het |
Gpm6a |
G |
A |
8: 55,500,431 (GRCm39) |
|
probably null |
Het |
Hltf |
T |
A |
3: 20,117,993 (GRCm39) |
N80K |
possibly damaging |
Het |
Il1rap |
G |
A |
16: 26,514,020 (GRCm39) |
R251H |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,648,267 (GRCm39) |
D688E |
probably benign |
Het |
Itgal |
T |
A |
7: 126,924,375 (GRCm39) |
N897K |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,674,982 (GRCm39) |
|
probably null |
Het |
Kcnk13 |
A |
G |
12: 99,931,631 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,147,203 (GRCm39) |
L248P |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,554,872 (GRCm39) |
E1254G |
possibly damaging |
Het |
Ldah |
G |
A |
12: 8,325,912 (GRCm39) |
|
probably benign |
Het |
Lingo1 |
T |
A |
9: 56,527,371 (GRCm39) |
D406V |
possibly damaging |
Het |
Lratd2 |
A |
G |
15: 60,695,650 (GRCm39) |
I32T |
probably damaging |
Het |
Lrriq1 |
A |
T |
10: 103,051,312 (GRCm39) |
V480E |
probably benign |
Het |
Mtcl1 |
C |
T |
17: 66,665,129 (GRCm39) |
R1142H |
probably benign |
Het |
Mtmr3 |
G |
A |
11: 4,447,381 (GRCm39) |
Q360* |
probably null |
Het |
Muc6 |
T |
C |
7: 141,237,380 (GRCm39) |
N252S |
probably benign |
Het |
Naa20 |
T |
C |
2: 145,745,240 (GRCm39) |
L4P |
probably damaging |
Het |
Neb |
T |
A |
2: 52,112,973 (GRCm39) |
I4274L |
probably benign |
Het |
Noa1 |
A |
T |
5: 77,457,516 (GRCm39) |
F130I |
probably benign |
Het |
Nrg4 |
G |
T |
9: 55,143,796 (GRCm39) |
H87N |
possibly damaging |
Het |
Or51ai2 |
T |
A |
7: 103,586,741 (GRCm39) |
H51Q |
probably benign |
Het |
Or5m12 |
T |
A |
2: 85,734,849 (GRCm39) |
Y183F |
probably damaging |
Het |
P3h3 |
C |
T |
6: 124,822,564 (GRCm39) |
E536K |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,554,771 (GRCm39) |
S34P |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,825,914 (GRCm39) |
T71A |
possibly damaging |
Het |
Plaur |
T |
A |
7: 24,166,225 (GRCm39) |
C99S |
possibly damaging |
Het |
Plekha5 |
G |
A |
6: 140,532,162 (GRCm39) |
G501E |
probably damaging |
Het |
Plxnd1 |
C |
T |
6: 115,954,921 (GRCm39) |
V614M |
probably benign |
Het |
Prl3d3 |
C |
T |
13: 27,341,453 (GRCm39) |
S28F |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Ptk7 |
C |
A |
17: 46,883,568 (GRCm39) |
Q832H |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,620,435 (GRCm39) |
S126G |
probably benign |
Het |
Rab3ip |
A |
T |
10: 116,751,772 (GRCm39) |
C332S |
probably damaging |
Het |
Raly |
C |
A |
2: 154,699,286 (GRCm39) |
T30K |
probably damaging |
Het |
Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
Rps6ka1 |
C |
T |
4: 133,594,535 (GRCm39) |
M159I |
possibly damaging |
Het |
Rufy3 |
C |
T |
5: 88,732,168 (GRCm39) |
T57I |
probably benign |
Het |
Samd4 |
A |
G |
14: 47,254,088 (GRCm39) |
D184G |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,047,833 (GRCm39) |
C58R |
possibly damaging |
Het |
Smarca4 |
T |
C |
9: 21,611,173 (GRCm39) |
I1467T |
probably damaging |
Het |
Spag17 |
T |
G |
3: 99,972,901 (GRCm39) |
I1371S |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,897,561 (GRCm39) |
L1228P |
possibly damaging |
Het |
Stk31 |
C |
T |
6: 49,398,631 (GRCm39) |
A344V |
probably benign |
Het |
Supt16 |
A |
G |
14: 52,408,291 (GRCm39) |
W885R |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 111,992,334 (GRCm39) |
|
probably null |
Het |
Tmod1 |
A |
G |
4: 46,078,469 (GRCm39) |
|
probably null |
Het |
Tnfsf13 |
A |
C |
11: 69,575,309 (GRCm39) |
|
probably null |
Het |
Trim75 |
C |
A |
8: 65,436,094 (GRCm39) |
E119* |
probably null |
Het |
Wdr6 |
T |
C |
9: 108,452,110 (GRCm39) |
Y591C |
probably damaging |
Het |
Wdr86 |
C |
T |
5: 24,923,281 (GRCm39) |
R137H |
probably benign |
Het |
Ythdf1 |
T |
A |
2: 180,552,943 (GRCm39) |
Y424F |
probably damaging |
Het |
Zfp984 |
G |
T |
4: 147,840,643 (GRCm39) |
S69R |
possibly damaging |
Het |
Zyg11a |
A |
G |
4: 108,038,991 (GRCm39) |
F743L |
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 |
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'- GTGGTTATTTACTTACCTCCAAACACC -3'
(R):5'- TTCCTGGCTTGGTACCAAAATC -3'
Sequencing Primer
(F):5'- GGCATGGTGGCACATACCTTTAATC -3'
(R):5'- CCTGGTCTACAAAGTAAGTTCCAGG -3'
|
Posted On |
2018-02-28 |