Incidental Mutation 'IGL01405:Ppp3ca'
ID |
79784 |
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 # |
IGL01405
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136574482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 127
(I127V)
|
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: I127V
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000053101 Gene: ENSMUSG00000028161 AA Change: I127V
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: I127V
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000071040 Gene: ENSMUSG00000028161 AA Change: I127V
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: ENSMUST00000124777
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
Ddost |
A |
G |
4: 138,039,014 (GRCm39) |
D378G |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
Elp5 |
T |
C |
11: 69,859,962 (GRCm39) |
R250G |
probably damaging |
Het |
Gnb1 |
A |
G |
4: 155,627,645 (GRCm39) |
H142R |
probably damaging |
Het |
Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
Pla2g4d |
T |
C |
2: 120,097,304 (GRCm39) |
N765S |
probably benign |
Het |
Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
Slc22a16 |
C |
T |
10: 40,461,191 (GRCm39) |
T331M |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
Slfn3 |
T |
C |
11: 83,105,542 (GRCm39) |
V513A |
possibly damaging |
Het |
Tbce |
A |
T |
13: 14,178,280 (GRCm39) |
I370N |
probably damaging |
Het |
Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
Zfp523 |
T |
C |
17: 28,423,480 (GRCm39) |
S152P |
probably damaging |
Het |
Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
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 |
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 |
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 |
2013-11-05 |