Incidental Mutation 'IGL02285:Ppp3ca'
| ID |
289972 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 136634387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056758]
[ENSMUST00000070198]
|
| AlphaFold |
P63328 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056758
|
| SMART Domains |
Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
| 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
|
| SMART Domains |
Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
56 |
347 |
2.91e-162 |
SMART |
|
low complexity region
|
497 |
509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130768
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
A |
G |
4: 126,244,670 (GRCm39) |
V672A |
possibly damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,187,536 (GRCm39) |
V253D |
possibly damaging |
Het |
| Atg3 |
G |
A |
16: 44,998,680 (GRCm39) |
|
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,819,814 (GRCm39) |
D1557G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 110,065,921 (GRCm39) |
T732A |
probably damaging |
Het |
| Cert1 |
A |
G |
13: 96,752,990 (GRCm39) |
H348R |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,908,229 (GRCm39) |
I207F |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,683,649 (GRCm39) |
|
probably null |
Het |
| Drc7 |
A |
T |
8: 95,797,861 (GRCm39) |
|
probably benign |
Het |
| Drosha |
C |
A |
15: 12,833,950 (GRCm39) |
P18H |
unknown |
Het |
| Fbxl5 |
A |
G |
5: 43,922,690 (GRCm39) |
S243P |
possibly damaging |
Het |
| Filip1 |
A |
G |
9: 79,727,408 (GRCm39) |
C404R |
probably damaging |
Het |
| Gm5745 |
G |
A |
9: 73,082,780 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7808 |
T |
G |
9: 19,839,347 (GRCm39) |
|
probably benign |
Het |
| Gpi-ps |
C |
T |
8: 5,690,373 (GRCm39) |
|
noncoding transcript |
Het |
| Hcn3 |
T |
C |
3: 89,060,119 (GRCm39) |
D175G |
probably damaging |
Het |
| Igkv1-117 |
A |
T |
6: 68,098,519 (GRCm39) |
M23L |
probably benign |
Het |
| Kif26a |
A |
G |
12: 112,123,941 (GRCm39) |
D182G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,459,233 (GRCm39) |
|
probably benign |
Het |
| Lypd4 |
T |
A |
7: 24,564,865 (GRCm39) |
Q91L |
probably damaging |
Het |
| Ncoa5 |
C |
T |
2: 164,844,760 (GRCm39) |
A37T |
probably damaging |
Het |
| Or52ad1 |
G |
A |
7: 102,995,245 (GRCm39) |
R297* |
probably null |
Het |
| Or56b1 |
A |
G |
7: 104,284,932 (GRCm39) |
E17G |
probably benign |
Het |
| Or7g17 |
T |
A |
9: 18,768,286 (GRCm39) |
C122S |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,148 (GRCm39) |
K8E |
probably damaging |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Rpgrip1l |
A |
G |
8: 91,959,535 (GRCm39) |
F1122L |
possibly damaging |
Het |
| Rps15 |
G |
T |
10: 80,129,596 (GRCm39) |
M43I |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,592 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,616,098 (GRCm39) |
M588K |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,943,714 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
A |
G |
6: 6,042,643 (GRCm39) |
V587A |
possibly damaging |
Het |
| Sugct |
T |
C |
13: 17,847,181 (GRCm39) |
D34G |
possibly damaging |
Het |
| Tdpoz2 |
T |
A |
3: 93,559,598 (GRCm39) |
I125F |
probably damaging |
Het |
| Trim52 |
T |
A |
14: 106,344,702 (GRCm39) |
L120Q |
probably damaging |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,711 (GRCm39) |
I144M |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,823 (GRCm39) |
F792S |
probably damaging |
Het |
| Vsnl1 |
A |
G |
12: 11,436,878 (GRCm39) |
F34L |
probably 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 |
|
|
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 |
|
R1072:Ppp3ca
|
UTSW |
3 |
136,640,888 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation