Incidental Mutation 'R1072:Ppp3ca'
ID |
85493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp3ca
|
Ensembl Gene |
ENSMUSG00000028161 |
Gene Name |
protein phosphatase 3, catalytic subunit, alpha isoform |
Synonyms |
Caln, CN, PP2BA alpha, PP2B alpha 1, CnA, Calna, 2900074D19Rik |
MMRRC Submission |
039158-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1072 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136640888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 480
(M480V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056758]
[ENSMUST00000070198]
|
AlphaFold |
P63328 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056758
AA Change: M490V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053101 Gene: ENSMUSG00000028161 AA Change: M490V
Domain | Start | End | E-Value | Type |
PP2Ac
|
56 |
347 |
2.91e-162 |
SMART |
low complexity region
|
507 |
519 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070198
AA Change: M480V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000071040 Gene: ENSMUSG00000028161 AA Change: M480V
Domain | Start | End | E-Value | Type |
PP2Ac
|
56 |
347 |
2.91e-162 |
SMART |
low complexity region
|
497 |
509 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,811,992 (GRCm39) |
F191Y |
probably benign |
Het |
Ankrd55 |
G |
T |
13: 112,485,376 (GRCm39) |
A169S |
possibly damaging |
Het |
Ano2 |
A |
G |
6: 126,016,287 (GRCm39) |
E940G |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,336,943 (GRCm39) |
H153Q |
possibly damaging |
Het |
Ccnf |
A |
T |
17: 24,456,136 (GRCm39) |
V283D |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Clec4b2 |
T |
C |
6: 123,181,233 (GRCm39) |
I206T |
probably damaging |
Het |
Gli3 |
T |
C |
13: 15,888,190 (GRCm39) |
V535A |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,807,855 (GRCm39) |
D1779E |
probably benign |
Het |
Itgax |
A |
G |
7: 127,749,316 (GRCm39) |
N1154D |
probably damaging |
Het |
Klra10 |
A |
T |
6: 130,258,811 (GRCm39) |
H25Q |
probably benign |
Het |
Lpo |
A |
G |
11: 87,709,260 (GRCm39) |
S94P |
probably damaging |
Het |
Mbd5 |
A |
T |
2: 49,147,203 (GRCm39) |
N471I |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,199,490 (GRCm39) |
Y1366C |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,993,617 (GRCm39) |
I261T |
possibly damaging |
Het |
Nlrp4a |
T |
C |
7: 26,143,860 (GRCm39) |
F75S |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,650,357 (GRCm39) |
|
probably null |
Het |
Ptpn23 |
A |
T |
9: 110,215,663 (GRCm39) |
M1367K |
probably benign |
Het |
Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
Sftpa1 |
C |
G |
14: 40,855,592 (GRCm39) |
|
probably null |
Het |
Shank2 |
A |
T |
7: 143,965,305 (GRCm39) |
N1181I |
probably damaging |
Het |
Slc6a20b |
T |
C |
9: 123,427,524 (GRCm39) |
T462A |
probably damaging |
Het |
Spdye4c |
T |
C |
2: 128,438,557 (GRCm39) |
L305P |
probably benign |
Het |
Th |
C |
A |
7: 142,448,225 (GRCm39) |
V275L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,733,721 (GRCm39) |
|
probably benign |
Het |
Ush2a |
T |
C |
1: 188,460,914 (GRCm39) |
V2725A |
possibly damaging |
Het |
|
Other mutations in Ppp3ca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00790:Ppp3ca
|
APN |
3 |
136,640,942 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01405:Ppp3ca
|
APN |
3 |
136,574,482 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02061:Ppp3ca
|
APN |
3 |
136,503,624 (GRCm39) |
missense |
probably benign |
|
IGL02285:Ppp3ca
|
APN |
3 |
136,634,387 (GRCm39) |
splice site |
probably benign |
|
IGL02472:Ppp3ca
|
APN |
3 |
136,627,623 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02706:Ppp3ca
|
APN |
3 |
136,611,079 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02894:Ppp3ca
|
APN |
3 |
136,503,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R0325:Ppp3ca
|
UTSW |
3 |
136,640,900 (GRCm39) |
missense |
probably benign |
0.15 |
R1427:Ppp3ca
|
UTSW |
3 |
136,627,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1524:Ppp3ca
|
UTSW |
3 |
136,503,579 (GRCm39) |
missense |
probably benign |
|
R1568:Ppp3ca
|
UTSW |
3 |
136,634,305 (GRCm39) |
missense |
probably benign |
0.00 |
R1754:Ppp3ca
|
UTSW |
3 |
136,587,209 (GRCm39) |
missense |
probably benign |
0.20 |
R1800:Ppp3ca
|
UTSW |
3 |
136,640,792 (GRCm39) |
missense |
probably damaging |
0.98 |
R1844:Ppp3ca
|
UTSW |
3 |
136,627,672 (GRCm39) |
missense |
probably benign |
0.08 |
R1878:Ppp3ca
|
UTSW |
3 |
136,503,639 (GRCm39) |
missense |
probably benign |
0.03 |
R2155:Ppp3ca
|
UTSW |
3 |
136,596,211 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2160:Ppp3ca
|
UTSW |
3 |
136,583,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R2220:Ppp3ca
|
UTSW |
3 |
136,503,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R2331:Ppp3ca
|
UTSW |
3 |
136,503,580 (GRCm39) |
missense |
probably benign |
|
R3052:Ppp3ca
|
UTSW |
3 |
136,503,605 (GRCm39) |
missense |
probably benign |
0.00 |
R3500:Ppp3ca
|
UTSW |
3 |
136,587,273 (GRCm39) |
missense |
probably benign |
0.00 |
R4764:Ppp3ca
|
UTSW |
3 |
136,596,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R4974:Ppp3ca
|
UTSW |
3 |
136,640,810 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5952:Ppp3ca
|
UTSW |
3 |
136,634,332 (GRCm39) |
missense |
probably benign |
0.08 |
R6051:Ppp3ca
|
UTSW |
3 |
136,581,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Ppp3ca
|
UTSW |
3 |
136,583,531 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6975:Ppp3ca
|
UTSW |
3 |
136,611,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R7121:Ppp3ca
|
UTSW |
3 |
136,574,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R7720:Ppp3ca
|
UTSW |
3 |
136,596,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Ppp3ca
|
UTSW |
3 |
136,596,222 (GRCm39) |
missense |
probably benign |
|
R7828:Ppp3ca
|
UTSW |
3 |
136,503,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R7830:Ppp3ca
|
UTSW |
3 |
136,574,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R8108:Ppp3ca
|
UTSW |
3 |
136,637,986 (GRCm39) |
splice site |
probably null |
|
R8126:Ppp3ca
|
UTSW |
3 |
136,608,952 (GRCm39) |
missense |
probably damaging |
0.99 |
R8285:Ppp3ca
|
UTSW |
3 |
136,587,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R8516:Ppp3ca
|
UTSW |
3 |
136,583,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R8537:Ppp3ca
|
UTSW |
3 |
136,503,619 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9662:Ppp3ca
|
UTSW |
3 |
136,583,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCCTTGGTTCCCTCCGGTATG -3'
(R):5'- ACTGCTGAGATGCAGCAATCCC -3'
Sequencing Primer
(F):5'- TCCCTCCGGTATGGTAAGGAATC -3'
(R):5'- GCTGCTATTACTGCCATTGC -3'
|
Posted On |
2013-11-18 |