Incidental Mutation 'R3500:Ppp3ca'
| ID |
273749 |
| 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 |
040663-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3500 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
136375885-136643488 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136587273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 252
(T252A)
|
| 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: T252A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: T252A
| 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: T252A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: T252A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196170
|
| Meta Mutation Damage Score |
0.0610 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amhr2 |
A |
G |
15: 102,355,501 (GRCm39) |
D188G |
probably benign |
Het |
| Arl15 |
G |
A |
13: 114,104,228 (GRCm39) |
E102K |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,403,066 (GRCm39) |
R319C |
probably damaging |
Het |
| Cetn4 |
A |
T |
3: 37,364,109 (GRCm39) |
F34I |
probably benign |
Het |
| Chd8 |
G |
T |
14: 52,443,110 (GRCm39) |
H510N |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,925,536 (GRCm39) |
D157G |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,269,929 (GRCm39) |
S251P |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,408,670 (GRCm39) |
C881S |
probably benign |
Het |
| Cnot4 |
G |
A |
6: 35,057,076 (GRCm39) |
|
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,872,905 (GRCm39) |
|
probably benign |
Het |
| Czib |
C |
T |
4: 107,748,710 (GRCm39) |
R83W |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,735,006 (GRCm39) |
M631T |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
| Fancb |
A |
G |
X: 163,779,104 (GRCm39) |
T721A |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,151,342 (GRCm39) |
F3800S |
probably damaging |
Het |
| Fgd2 |
T |
C |
17: 29,584,575 (GRCm39) |
V173A |
possibly damaging |
Het |
| Gabrr1 |
T |
C |
4: 33,158,184 (GRCm39) |
|
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,437,982 (GRCm39) |
G390S |
possibly damaging |
Het |
| Gm9396 |
C |
A |
3: 129,862,144 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
C |
6: 63,480,383 (GRCm39) |
S66P |
probably damaging |
Het |
| Hdac9 |
C |
A |
12: 34,487,352 (GRCm39) |
M16I |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,504,477 (GRCm39) |
D3610E |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,730,673 (GRCm39) |
M1K |
probably null |
Het |
| Ldhb |
T |
C |
6: 142,447,173 (GRCm39) |
D47G |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,740,275 (GRCm39) |
M1L |
probably benign |
Het |
| Mecom |
C |
T |
3: 30,035,061 (GRCm39) |
R205H |
probably damaging |
Het |
| Mob1b |
A |
G |
5: 88,897,479 (GRCm39) |
D129G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,588,431 (GRCm39) |
V2436A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,215,797 (GRCm39) |
N170S |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,345,931 (GRCm39) |
A848T |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,597,952 (GRCm39) |
R282* |
probably null |
Het |
| Or4c102 |
A |
G |
2: 88,422,285 (GRCm39) |
T46A |
probably damaging |
Het |
| Or4c119 |
C |
T |
2: 88,987,403 (GRCm39) |
G39R |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,421 (GRCm39) |
V245A |
possibly damaging |
Het |
| Or4f47 |
T |
C |
2: 111,972,472 (GRCm39) |
F61L |
possibly damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,297 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,532 (GRCm39) |
L109* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
| Podxl2 |
T |
C |
6: 88,819,900 (GRCm39) |
D554G |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,339,569 (GRCm39) |
H111R |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,002,692 (GRCm39) |
E130G |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,357,041 (GRCm39) |
A57V |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,210,531 (GRCm39) |
F95L |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 141,992,371 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
T |
A |
6: 132,688,523 (GRCm39) |
K123N |
probably damaging |
Het |
| Tbpl2 |
C |
T |
2: 23,977,151 (GRCm39) |
R289Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,768,136 (GRCm39) |
F788L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,628 (GRCm39) |
L29258F |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,591,509 (GRCm39) |
F19307L |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,690,129 (GRCm39) |
I335T |
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 |
|
|
R3052:Ppp3ca
|
UTSW |
3 |
136,503,605 (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'- GTCATCACTCAGAGCTTCTGTG -3'
(R):5'- TTAACGAACTGCAGCCATCC -3'
Sequencing Primer
(F):5'- GTGTTCTGATTTCTAAGTGTCCAAAG -3'
(R):5'- CCAAGATCCAGCTCTTTCAATC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation