Incidental Mutation 'IGL02061:Ppp3ca'
ID |
185402 |
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 # |
IGL02061
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136503624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 66
(T66A)
|
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: T66A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053101 Gene: ENSMUSG00000028161 AA Change: T66A
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: T66A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000071040 Gene: ENSMUSG00000028161 AA Change: T66A
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl15 |
T |
A |
13: 113,931,193 (GRCm39) |
D3E |
probably benign |
Het |
Atp4a |
A |
G |
7: 30,414,454 (GRCm39) |
Y159C |
probably damaging |
Het |
Card10 |
A |
G |
15: 78,662,415 (GRCm39) |
F861S |
probably damaging |
Het |
Ccdc85c |
A |
G |
12: 108,188,002 (GRCm39) |
V279A |
probably damaging |
Het |
Cndp1 |
G |
A |
18: 84,652,751 (GRCm39) |
R136W |
probably damaging |
Het |
Eif2b3 |
A |
G |
4: 116,885,608 (GRCm39) |
E50G |
possibly damaging |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Eva1c |
C |
T |
16: 90,663,163 (GRCm39) |
Q67* |
probably null |
Het |
Exoc1 |
A |
G |
5: 76,689,967 (GRCm39) |
E169G |
probably damaging |
Het |
Fsd2 |
T |
A |
7: 81,190,172 (GRCm39) |
K537* |
probably null |
Het |
Gbf1 |
T |
G |
19: 46,267,697 (GRCm39) |
S1236A |
possibly damaging |
Het |
Gpt |
C |
A |
15: 76,583,617 (GRCm39) |
|
probably benign |
Het |
Gsap |
A |
G |
5: 21,486,609 (GRCm39) |
|
probably benign |
Het |
Hdac6 |
A |
C |
X: 7,809,878 (GRCm39) |
|
probably null |
Het |
Ivns1abp |
T |
A |
1: 151,227,324 (GRCm39) |
L44Q |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,790,494 (GRCm39) |
|
probably null |
Het |
Kdm2b |
A |
G |
5: 123,021,404 (GRCm39) |
I58T |
probably damaging |
Het |
Mrpl23 |
C |
T |
7: 142,094,319 (GRCm39) |
P76S |
probably benign |
Het |
Nbea |
A |
G |
3: 55,625,308 (GRCm39) |
I2261T |
possibly damaging |
Het |
Oasl1 |
G |
A |
5: 115,061,651 (GRCm39) |
V61M |
probably damaging |
Het |
Or4g7 |
T |
A |
2: 111,309,614 (GRCm39) |
F162I |
possibly damaging |
Het |
Pabpc2 |
A |
G |
18: 39,908,046 (GRCm39) |
Q437R |
probably benign |
Het |
Ppp1r26 |
T |
A |
2: 28,340,639 (GRCm39) |
C90S |
possibly damaging |
Het |
Prss55 |
A |
G |
14: 64,313,192 (GRCm39) |
Y231H |
possibly damaging |
Het |
Psmb10 |
T |
C |
8: 106,664,343 (GRCm39) |
T38A |
probably damaging |
Het |
Rfx5 |
A |
G |
3: 94,865,792 (GRCm39) |
T364A |
probably benign |
Het |
Scgb2b26 |
T |
C |
7: 33,642,610 (GRCm39) |
N107S |
probably benign |
Het |
Seh1l |
A |
G |
18: 67,920,328 (GRCm39) |
|
probably benign |
Het |
Skic3 |
T |
A |
13: 76,277,660 (GRCm39) |
|
probably null |
Het |
Sod1 |
T |
A |
16: 90,022,126 (GRCm39) |
H111Q |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,900,176 (GRCm39) |
D592E |
probably benign |
Het |
Tmem67 |
G |
A |
4: 12,053,526 (GRCm39) |
A740V |
probably damaging |
Het |
Tra2a |
A |
G |
6: 49,226,032 (GRCm39) |
V136A |
possibly damaging |
Het |
Utp18 |
T |
C |
11: 93,772,967 (GRCm39) |
D158G |
probably benign |
Het |
Zfp524 |
A |
G |
7: 5,020,871 (GRCm39) |
E133G |
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 |
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 |
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 |
2014-05-07 |