Incidental Mutation 'IGL02894:Ppp3ca'
ID |
363346 |
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 # |
IGL02894
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 136503573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 49
(H49N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056758]
[ENSMUST00000070198]
|
AlphaFold |
P63328 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056758
AA Change: H49N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053101 Gene: ENSMUSG00000028161 AA Change: H49N
Domain | Start | End | E-Value | Type |
PP2Ac
|
56 |
347 |
2.91e-162 |
SMART |
low complexity region
|
507 |
519 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070198
AA Change: H49N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071040 Gene: ENSMUSG00000028161 AA Change: H49N
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: ENSMUST00000124206
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200068
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630023A22Rik |
T |
A |
14: 33,776,817 (GRCm39) |
|
probably benign |
Het |
Aurka |
T |
A |
2: 172,208,868 (GRCm39) |
|
probably null |
Het |
Cacna2d3 |
C |
T |
14: 28,786,276 (GRCm39) |
|
probably null |
Het |
Cdh12 |
A |
G |
15: 21,586,380 (GRCm39) |
Y733C |
probably damaging |
Het |
Cdon |
A |
T |
9: 35,366,722 (GRCm39) |
E199D |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,302,526 (GRCm39) |
L558Q |
probably damaging |
Het |
Clcnkb |
C |
A |
4: 141,135,130 (GRCm39) |
R536L |
probably benign |
Het |
Cyp3a11 |
G |
A |
5: 145,805,836 (GRCm39) |
Q151* |
probably null |
Het |
Dnah7a |
A |
T |
1: 53,616,487 (GRCm39) |
V1158E |
probably benign |
Het |
Dnah8 |
G |
T |
17: 30,940,084 (GRCm39) |
E1677* |
probably null |
Het |
Dock3 |
T |
C |
9: 106,807,298 (GRCm39) |
N1343S |
probably benign |
Het |
Dock6 |
T |
A |
9: 21,723,111 (GRCm39) |
E1603D |
probably damaging |
Het |
Fam91a1 |
C |
T |
15: 58,315,080 (GRCm39) |
T589M |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,147,479 (GRCm39) |
N3921I |
probably damaging |
Het |
Gm10188 |
A |
G |
1: 132,157,037 (GRCm39) |
|
probably benign |
Het |
Grid2ip |
A |
G |
5: 143,376,863 (GRCm39) |
E976G |
probably benign |
Het |
Hapln3 |
G |
T |
7: 78,771,521 (GRCm39) |
Q123K |
probably benign |
Het |
Hnrnpul1 |
G |
A |
7: 25,450,329 (GRCm39) |
P128S |
possibly damaging |
Het |
Hsd3b1 |
T |
A |
3: 98,760,245 (GRCm39) |
I249F |
possibly damaging |
Het |
Kbtbd3 |
A |
T |
9: 4,331,444 (GRCm39) |
H606L |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,451,155 (GRCm39) |
Y418C |
probably damaging |
Het |
Mcm3ap |
C |
A |
10: 76,313,601 (GRCm39) |
A565E |
probably benign |
Het |
Minar1 |
T |
G |
9: 89,485,155 (GRCm39) |
I81L |
probably damaging |
Het |
Naip2 |
A |
G |
13: 100,297,505 (GRCm39) |
S844P |
probably damaging |
Het |
Naip2 |
C |
T |
13: 100,320,297 (GRCm39) |
V240I |
probably benign |
Het |
Notch2 |
T |
A |
3: 98,009,748 (GRCm39) |
C558* |
probably null |
Het |
Npdc1 |
T |
A |
2: 25,298,007 (GRCm39) |
H185Q |
probably benign |
Het |
Or2a25 |
A |
T |
6: 42,888,451 (GRCm39) |
|
probably benign |
Het |
Or4c31 |
T |
G |
2: 88,292,070 (GRCm39) |
Y148D |
probably damaging |
Het |
Or5d37 |
T |
C |
2: 87,924,107 (GRCm39) |
I58V |
possibly damaging |
Het |
Osbpl3 |
A |
T |
6: 50,323,312 (GRCm39) |
I257N |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,740,630 (GRCm39) |
T2156S |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,797,888 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
A |
T |
1: 162,505,626 (GRCm39) |
L1100I |
probably damaging |
Het |
Ptpn21 |
A |
C |
12: 98,655,891 (GRCm39) |
|
probably benign |
Het |
Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
Ptprq |
T |
A |
10: 107,503,285 (GRCm39) |
Q791L |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 23,035,148 (GRCm39) |
R1966H |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,763,854 (GRCm39) |
Q1404L |
possibly damaging |
Het |
Reln |
C |
A |
5: 22,090,546 (GRCm39) |
M3437I |
possibly damaging |
Het |
S100a7l2 |
A |
T |
3: 90,995,700 (GRCm39) |
F67L |
probably benign |
Het |
Slc13a1 |
T |
C |
6: 24,137,041 (GRCm39) |
|
probably benign |
Het |
Slc4a11 |
T |
C |
2: 130,529,075 (GRCm39) |
|
probably null |
Het |
Slc9a2 |
A |
G |
1: 40,802,762 (GRCm39) |
E604G |
probably benign |
Het |
Sod3 |
T |
G |
5: 52,525,348 (GRCm39) |
S16A |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,401,678 (GRCm39) |
I650V |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,319,211 (GRCm39) |
I270M |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,367,487 (GRCm39) |
I410N |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,184,043 (GRCm39) |
S1449N |
probably damaging |
Het |
Usp29 |
A |
T |
7: 6,964,633 (GRCm39) |
M159L |
probably benign |
Het |
Vmn1r122 |
A |
T |
7: 20,867,649 (GRCm39) |
F135L |
probably benign |
Het |
Wdr11 |
T |
C |
7: 129,232,890 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,725,202 (GRCm39) |
|
probably null |
Het |
Zfp955a |
A |
T |
17: 33,461,426 (GRCm39) |
C235* |
probably null |
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 |
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 |
2015-12-18 |