Incidental Mutation 'IGL02706:Ppp3ca'
ID |
304334 |
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 # |
IGL02706
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 136611079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 367
(N367K)
|
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: N367K
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000053101 Gene: ENSMUSG00000028161 AA Change: N367K
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: N367K
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000071040 Gene: ENSMUSG00000028161 AA Change: N367K
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: ENSMUST00000130114
|
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 |
Abca17 |
T |
C |
17: 24,517,966 (GRCm39) |
E781G |
probably benign |
Het |
Abcc8 |
C |
T |
7: 45,816,345 (GRCm39) |
R265Q |
probably benign |
Het |
Agtr1b |
A |
T |
3: 20,370,027 (GRCm39) |
I193N |
probably benign |
Het |
Atp6v1e2 |
A |
G |
17: 87,252,362 (GRCm39) |
I12T |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,347,818 (GRCm39) |
T757A |
probably damaging |
Het |
Cldn15 |
A |
G |
5: 137,003,685 (GRCm39) |
K200R |
probably benign |
Het |
Dip2b |
G |
T |
15: 100,113,192 (GRCm39) |
V1302F |
probably damaging |
Het |
Dnajb6 |
T |
A |
5: 29,957,421 (GRCm39) |
Y68N |
probably damaging |
Het |
Dok1 |
T |
A |
6: 83,009,315 (GRCm39) |
E179V |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,403,482 (GRCm39) |
T342A |
probably damaging |
Het |
Etf1 |
A |
T |
18: 35,064,690 (GRCm39) |
S6R |
possibly damaging |
Het |
Fryl |
T |
C |
5: 73,250,506 (GRCm39) |
I987V |
probably benign |
Het |
Gba2 |
C |
T |
4: 43,567,257 (GRCm39) |
G897S |
probably benign |
Het |
Habp2 |
G |
T |
19: 56,298,570 (GRCm39) |
|
probably null |
Het |
Hapln1 |
G |
T |
13: 89,753,578 (GRCm39) |
S248I |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,137,198 (GRCm39) |
D667G |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,359,222 (GRCm39) |
H1074L |
probably damaging |
Het |
Kctd9 |
T |
C |
14: 67,962,130 (GRCm39) |
|
probably null |
Het |
L3mbtl4 |
A |
G |
17: 68,793,914 (GRCm39) |
D306G |
probably damaging |
Het |
Lgalsl |
T |
C |
11: 20,780,090 (GRCm39) |
R49G |
probably damaging |
Het |
Lpo |
C |
T |
11: 87,708,599 (GRCm39) |
S133N |
probably benign |
Het |
Lrp8 |
A |
T |
4: 107,660,516 (GRCm39) |
R59* |
probably null |
Het |
Mctp1 |
T |
C |
13: 76,971,188 (GRCm39) |
F629S |
probably damaging |
Het |
Med1 |
A |
G |
11: 98,047,533 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
C |
3: 55,944,699 (GRCm39) |
H555R |
probably damaging |
Het |
Nedd1 |
T |
C |
10: 92,522,147 (GRCm39) |
H630R |
possibly damaging |
Het |
Nr3c2 |
A |
T |
8: 77,635,045 (GRCm39) |
|
probably null |
Het |
Nubp2 |
A |
T |
17: 25,102,171 (GRCm39) |
V267E |
probably benign |
Het |
Oacyl |
A |
T |
18: 65,882,792 (GRCm39) |
Y629F |
probably damaging |
Het |
Or1n1b |
A |
G |
2: 36,780,731 (GRCm39) |
I43T |
probably damaging |
Het |
Or1x2 |
T |
A |
11: 50,918,091 (GRCm39) |
H87Q |
probably damaging |
Het |
Or5b119 |
A |
T |
19: 13,457,462 (GRCm39) |
Y33* |
probably null |
Het |
Pknox2 |
T |
C |
9: 36,847,675 (GRCm39) |
H114R |
probably benign |
Het |
Ppp2r1b |
A |
G |
9: 50,790,134 (GRCm39) |
D564G |
possibly damaging |
Het |
Ptprn2 |
T |
C |
12: 116,852,518 (GRCm39) |
V525A |
probably damaging |
Het |
Reps1 |
T |
G |
10: 17,998,763 (GRCm39) |
|
probably benign |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,444,207 (GRCm39) |
I973V |
possibly damaging |
Het |
Ssh2 |
T |
A |
11: 77,344,232 (GRCm39) |
V739D |
possibly damaging |
Het |
Tbc1d24 |
A |
G |
17: 24,404,395 (GRCm39) |
F250L |
probably benign |
Het |
Ube3a |
T |
A |
7: 58,921,881 (GRCm39) |
H84Q |
possibly damaging |
Het |
Usp34 |
T |
C |
11: 23,338,659 (GRCm39) |
|
probably benign |
Het |
Zdhhc8 |
G |
T |
16: 18,042,758 (GRCm39) |
L481I |
probably damaging |
Het |
Zfp574 |
A |
G |
7: 24,780,790 (GRCm39) |
H604R |
probably damaging |
Het |
Zfp945 |
A |
T |
17: 23,076,256 (GRCm39) |
M63K |
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 |
|
IGL02472:Ppp3ca
|
APN |
3 |
136,627,623 (GRCm39) |
missense |
possibly damaging |
0.57 |
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 |