Incidental Mutation 'R3052:Ppp3ca'
ID |
264983 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
040561-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3052 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 136503605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 59
(S59R)
|
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: S59R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000053101 Gene: ENSMUSG00000028161 AA Change: S59R
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: S59R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000071040 Gene: ENSMUSG00000028161 AA Change: S59R
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
|
Meta Mutation Damage Score |
0.0616 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (38/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
Ampd2 |
C |
T |
3: 107,993,803 (GRCm39) |
|
probably benign |
Het |
Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,686,179 (GRCm39) |
E668G |
probably benign |
Het |
Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
B430306N03Rik |
T |
C |
17: 48,623,938 (GRCm39) |
S80P |
probably damaging |
Het |
Banp |
G |
A |
8: 122,732,426 (GRCm39) |
|
probably null |
Het |
Capn2 |
G |
A |
1: 182,315,337 (GRCm39) |
T306M |
probably benign |
Het |
Ccpg1 |
A |
T |
9: 72,913,150 (GRCm39) |
S229C |
probably damaging |
Het |
Cep250 |
G |
T |
2: 155,832,968 (GRCm39) |
S1630I |
probably damaging |
Het |
Ces1g |
C |
A |
8: 94,061,676 (GRCm39) |
V77L |
possibly damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,729,852 (GRCm39) |
H1211L |
possibly damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
Gm10384 |
A |
G |
15: 36,871,996 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
T |
C |
1: 59,672,299 (GRCm39) |
|
probably benign |
Het |
Ift88 |
C |
T |
14: 57,668,025 (GRCm39) |
P9S |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,845,635 (GRCm39) |
L172P |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,739,613 (GRCm39) |
I119F |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,462,153 (GRCm39) |
E1428G |
possibly damaging |
Het |
Or12e7 |
C |
A |
2: 87,288,247 (GRCm39) |
T246K |
probably damaging |
Het |
Phf13 |
T |
C |
4: 152,076,820 (GRCm39) |
D124G |
possibly damaging |
Het |
Rsu1 |
A |
G |
2: 13,174,946 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 89,033,370 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
Sc5d |
G |
T |
9: 42,166,866 (GRCm39) |
N224K |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
Ugt3a1 |
G |
T |
15: 9,365,374 (GRCm39) |
W329L |
probably damaging |
Het |
Unk |
T |
C |
11: 115,940,949 (GRCm39) |
Y237H |
probably benign |
Het |
Vcam1 |
A |
C |
3: 115,918,079 (GRCm39) |
|
probably null |
Het |
Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
Zc3h12c |
A |
T |
9: 52,055,356 (GRCm39) |
L132Q |
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 |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCGTTATCTGGTTAGTGACAG -3'
(R):5'- TTCAATGGTAAAAGCAGATGGTGTG -3'
Sequencing Primer
(F):5'- TCAGCGGTCATTGGCCTG -3'
(R):5'- TAAAAGCAGATGGTGTGTAAGTTGTC -3'
|
Posted On |
2015-02-05 |