Incidental Mutation 'R7656:Ppp2r3d'
| ID |
591207 |
| 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 |
045732-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R7656 (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 T
at 101088911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 471
(F471I)
|
| 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: F471I
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: F471I
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
A |
G |
4: 56,804,218 (GRCm39) |
I78V |
probably benign |
Het |
| Acot2 |
A |
G |
12: 84,039,691 (GRCm39) |
Y400C |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,059,080 (GRCm39) |
M237V |
|
Het |
| Atrnl1 |
C |
A |
19: 57,599,811 (GRCm39) |
S9* |
probably null |
Het |
| BC031181 |
A |
T |
18: 75,142,406 (GRCm39) |
K71* |
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,707,940 (GRCm39) |
T21A |
probably benign |
Het |
| Brpf1 |
A |
T |
6: 113,291,835 (GRCm39) |
M294L |
probably benign |
Het |
| Camk2g |
T |
G |
14: 20,789,410 (GRCm39) |
D382A |
possibly damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,025,748 (GRCm39) |
R94W |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,823 (GRCm39) |
L225Q |
probably damaging |
Het |
| Chsy1 |
G |
T |
7: 65,820,778 (GRCm39) |
V338F |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,225,846 (GRCm39) |
I170V |
unknown |
Het |
| Col6a2 |
G |
T |
10: 76,443,590 (GRCm39) |
Q492K |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,581,273 (GRCm39) |
V3168L |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,535,164 (GRCm39) |
S2699G |
possibly damaging |
Het |
| Efhc1 |
A |
G |
1: 21,031,281 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,807,886 (GRCm39) |
K1402E |
possibly damaging |
Het |
| Ghdc |
C |
T |
11: 100,660,493 (GRCm39) |
A127T |
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,149,572 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,276,253 (GRCm39) |
M1637L |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,459 (GRCm39) |
D998E |
probably benign |
Het |
| Krtcap3 |
A |
G |
5: 31,409,904 (GRCm39) |
T157A |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,853,462 (GRCm39) |
K18* |
probably null |
Het |
| Luc7l2 |
A |
G |
6: 38,580,399 (GRCm39) |
R333G |
unknown |
Het |
| Mdc1 |
T |
G |
17: 36,161,773 (GRCm39) |
S895R |
probably benign |
Het |
| Mef2a |
G |
A |
7: 66,945,142 (GRCm39) |
T80M |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,933,011 (GRCm39) |
L1026P |
probably damaging |
Het |
| Mtbp |
G |
T |
15: 55,472,922 (GRCm39) |
V629L |
unknown |
Het |
| Ncapd3 |
T |
A |
9: 26,966,801 (GRCm39) |
I545N |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,089,542 (GRCm39) |
T1291M |
|
Het |
| Or10z1 |
T |
A |
1: 174,077,784 (GRCm39) |
K236N |
probably damaging |
Het |
| Or5b123 |
A |
T |
19: 13,597,197 (GRCm39) |
I181F |
probably damaging |
Het |
| Orc3 |
G |
T |
4: 34,587,032 (GRCm39) |
C352* |
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,550 (GRCm39) |
G490D |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,458 (GRCm39) |
T473S |
probably benign |
Het |
| Phkg2 |
G |
A |
7: 127,182,074 (GRCm39) |
G365D |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,281 (GRCm39) |
E82G |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,934 (GRCm39) |
|
probably null |
Het |
| Prl3d1 |
T |
C |
13: 27,284,018 (GRCm39) |
C196R |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,633,552 (GRCm39) |
F14L |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,894,418 (GRCm39) |
L9P |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,688,849 (GRCm39) |
F881I |
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,750,044 (GRCm39) |
I363T |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,659,090 (GRCm39) |
E134G |
probably damaging |
Het |
| Rapgef6 |
C |
T |
11: 54,585,279 (GRCm39) |
P1559L |
probably benign |
Het |
| Rnf180 |
T |
C |
13: 105,304,096 (GRCm39) |
K507E |
probably damaging |
Het |
| Rpl3l |
T |
C |
17: 24,949,960 (GRCm39) |
I53T |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,442 (GRCm39) |
I1466V |
unknown |
Het |
| Saxo2 |
A |
G |
7: 82,284,559 (GRCm39) |
Y100H |
probably damaging |
Het |
| Selenoh |
G |
T |
2: 84,500,724 (GRCm39) |
R39S |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,756,323 (GRCm39) |
V342A |
probably damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,690,982 (GRCm39) |
F587I |
possibly damaging |
Het |
| Smoc1 |
A |
T |
12: 81,152,682 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Spag9 |
A |
C |
11: 93,887,389 (GRCm39) |
H98P |
possibly damaging |
Het |
| Spata31e3 |
T |
G |
13: 50,401,122 (GRCm39) |
K401N |
probably benign |
Het |
| T2 |
T |
A |
17: 8,637,047 (GRCm39) |
C337* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,377 (GRCm39) |
Y455C |
probably damaging |
Het |
| Thbd |
A |
G |
2: 148,249,340 (GRCm39) |
L176P |
probably damaging |
Het |
| Tmem116 |
A |
G |
5: 121,590,252 (GRCm39) |
|
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,709,640 (GRCm39) |
V54I |
possibly damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,233 (GRCm39) |
V378I |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,779,422 (GRCm39) |
W3129C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,558,660 (GRCm39) |
D29740E |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,833,233 (GRCm39) |
C3073Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,560,189 (GRCm39) |
D388E |
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 |
|
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'- TGGTTCTCCTAGAGAGGTCTC -3'
(R):5'- AACCTGTGCAGCTTCAGTCAC -3'
Sequencing Primer
(F):5'- CTAGAGAGGTCTCCATCTTCTGTGAG -3'
(R):5'- GTGCAGCTTCAGTCACCGTTATTAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation