Incidental Mutation 'IGL02472:Ppp3ca'
ID |
294755 |
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 # |
IGL02472
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136627623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 396
(I396V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056758]
[ENSMUST00000070198]
|
AlphaFold |
P63328 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056758
AA Change: I396V
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000053101 Gene: ENSMUSG00000028161 AA Change: I396V
Domain | Start | End | E-Value | Type |
PP2Ac
|
56 |
347 |
2.91e-162 |
SMART |
low complexity region
|
507 |
519 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070198
AA Change: I396V
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000071040 Gene: ENSMUSG00000028161 AA Change: I396V
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
A |
G |
15: 76,834,578 (GRCm39) |
N158S |
probably damaging |
Het |
Ankrd17 |
A |
C |
5: 90,412,010 (GRCm39) |
L1285V |
probably damaging |
Het |
Atp8b2 |
G |
A |
3: 89,861,546 (GRCm39) |
T267I |
probably damaging |
Het |
Becn1 |
C |
T |
11: 101,182,224 (GRCm39) |
G115D |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Chd6 |
A |
C |
2: 160,826,372 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,699,602 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,397,004 (GRCm39) |
I494V |
possibly damaging |
Het |
Dock2 |
T |
A |
11: 34,199,801 (GRCm39) |
E1416D |
probably benign |
Het |
Eif2ak1 |
A |
G |
5: 143,821,701 (GRCm39) |
H339R |
probably benign |
Het |
Espnl |
C |
T |
1: 91,268,256 (GRCm39) |
P294L |
probably benign |
Het |
Ftmt |
T |
A |
18: 52,464,912 (GRCm39) |
I76N |
possibly damaging |
Het |
Gorasp2 |
T |
G |
2: 70,506,803 (GRCm39) |
|
probably benign |
Het |
Hadhb |
T |
A |
5: 30,389,061 (GRCm39) |
M468K |
possibly damaging |
Het |
Hfm1 |
A |
G |
5: 107,021,794 (GRCm39) |
|
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,445,338 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,640,060 (GRCm39) |
F288I |
probably damaging |
Het |
Kcnv1 |
T |
A |
15: 44,972,519 (GRCm39) |
K455* |
probably null |
Het |
Kdm5a |
A |
G |
6: 120,383,691 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,747,958 (GRCm39) |
S3122F |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,490,817 (GRCm39) |
I440V |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,741,203 (GRCm39) |
I545F |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,195,789 (GRCm39) |
P1055L |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,755 (GRCm39) |
I195N |
probably benign |
Het |
Or5v1b |
C |
A |
17: 37,841,640 (GRCm39) |
F257L |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,609,270 (GRCm39) |
L65Q |
probably damaging |
Het |
Polr1g |
T |
C |
7: 19,093,030 (GRCm39) |
D50G |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,740,269 (GRCm39) |
N3917K |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,582,658 (GRCm39) |
T80A |
probably damaging |
Het |
Sema3f |
C |
T |
9: 107,564,935 (GRCm39) |
E307K |
probably damaging |
Het |
Serpinb9b |
A |
T |
13: 33,223,953 (GRCm39) |
|
probably benign |
Het |
Siglec15 |
T |
A |
18: 78,086,832 (GRCm39) |
K342N |
possibly damaging |
Het |
Slc2a12 |
T |
C |
10: 22,541,054 (GRCm39) |
F303S |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,400,505 (GRCm39) |
V705A |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,423,383 (GRCm39) |
|
probably benign |
Het |
Tm6sf1 |
A |
T |
7: 81,525,572 (GRCm39) |
|
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,899,119 (GRCm39) |
Y269C |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,944,971 (GRCm39) |
I402T |
possibly damaging |
Het |
Ube4b |
A |
G |
4: 149,471,536 (GRCm39) |
|
probably null |
Het |
Usp28 |
T |
A |
9: 48,949,069 (GRCm39) |
Y863N |
possibly damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,058,960 (GRCm39) |
I534V |
probably benign |
Het |
Wdr89 |
A |
T |
12: 75,679,743 (GRCm39) |
D170E |
probably damaging |
Het |
Zfp280d |
C |
A |
9: 72,208,993 (GRCm39) |
N74K |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
IGL02285:Ppp3ca
|
APN |
3 |
136,634,387 (GRCm39) |
splice site |
probably benign |
|
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 |