Incidental Mutation 'IGL00496:Ppp3r2'
| ID |
13142 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp3r2
|
| Ensembl Gene |
ENSMUSG00000028310 |
| Gene Name |
protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type II) |
| Synonyms |
CnB2, CaNB2, PP2B beta 2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL00496
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
49678747-49681983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49681773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 59
(I59T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029991]
[ENSMUST00000076674]
[ENSMUST00000093859]
|
| AlphaFold |
Q63811 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029991
AA Change: I59T
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029991
Gene: ENSMUSG00000028310
AA Change: I59T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
22 |
50 |
1.72e0 |
SMART |
|
EFh
|
54 |
82 |
2.37e-3 |
SMART |
|
EFh
|
91 |
119 |
4.19e-4 |
SMART |
|
EFh
|
132 |
160 |
1.73e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076674
|
| SMART Domains |
Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
Lig_chan-Glu_bd
|
557 |
622 |
9.62e-22 |
SMART |
|
PBPe
|
565 |
910 |
1.43e-73 |
SMART |
|
transmembrane domain
|
934 |
956 |
N/A |
INTRINSIC |
|
coiled coil region
|
1063 |
1105 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093859
|
| SMART Domains |
Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
Lig_chan-Glu_bd
|
557 |
622 |
9.62e-22 |
SMART |
|
PBPe
|
565 |
910 |
1.43e-73 |
SMART |
|
transmembrane domain
|
934 |
956 |
N/A |
INTRINSIC |
|
coiled coil region
|
1083 |
1125 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to reduced hyperactivated sperm motility and midpiece rigidity. [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 |
|---|
| 4933434E20Rik |
G |
A |
3: 89,960,400 (GRCm39) |
V14M |
possibly damaging |
Het |
| Adgrg6 |
C |
A |
10: 14,326,322 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,813,988 (GRCm39) |
L397P |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,687,100 (GRCm39) |
K232E |
probably damaging |
Het |
| Cnfn |
G |
T |
7: 25,067,385 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,452,371 (GRCm39) |
T52A |
probably benign |
Het |
| Daw1 |
A |
C |
1: 83,174,957 (GRCm39) |
L152F |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,087,211 (GRCm39) |
I98K |
probably damaging |
Het |
| Il17a |
G |
A |
1: 20,802,507 (GRCm39) |
R72H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,512 (GRCm39) |
Q744R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,083 (GRCm39) |
T387A |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,336,546 (GRCm39) |
I1057F |
possibly damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,544 (GRCm39) |
D263G |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,090,591 (GRCm39) |
V322E |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,995,911 (GRCm39) |
|
probably null |
Het |
| Pradc1 |
A |
G |
6: 85,424,948 (GRCm39) |
|
probably null |
Het |
| Psmd14 |
A |
G |
2: 61,591,026 (GRCm39) |
Y32C |
probably damaging |
Het |
| Rrp12 |
A |
C |
19: 41,866,466 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
A |
T |
17: 3,221,409 (GRCm39) |
I299F |
unknown |
Het |
| Selenoo |
A |
G |
15: 88,979,875 (GRCm39) |
D341G |
probably damaging |
Het |
| Slc1a6 |
C |
A |
10: 78,629,142 (GRCm39) |
N186K |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,298,924 (GRCm39) |
S102R |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,217,430 (GRCm39) |
V423E |
probably damaging |
Het |
| Svep1 |
A |
C |
4: 58,069,001 (GRCm39) |
C2928W |
possibly damaging |
Het |
| Tmed9 |
T |
C |
13: 55,741,334 (GRCm39) |
Y43H |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,091 (GRCm39) |
T24855A |
possibly damaging |
Het |
| Usp7 |
A |
G |
16: 8,512,977 (GRCm39) |
V795A |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,112,614 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ppp3r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03371:Ppp3r2
|
APN |
4 |
49,681,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Ppp3r2
|
UTSW |
4 |
49,681,902 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0928:Ppp3r2
|
UTSW |
4 |
49,681,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1957:Ppp3r2
|
UTSW |
4 |
49,681,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Ppp3r2
|
UTSW |
4 |
49,681,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2022:Ppp3r2
|
UTSW |
4 |
49,681,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2023:Ppp3r2
|
UTSW |
4 |
49,681,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6102:Ppp3r2
|
UTSW |
4 |
49,682,022 (GRCm39) |
intron |
probably benign |
|
|
R6385:Ppp3r2
|
UTSW |
4 |
49,681,767 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8046:Ppp3r2
|
UTSW |
4 |
49,681,913 (GRCm39) |
nonsense |
probably null |
|
|
R8315:Ppp3r2
|
UTSW |
4 |
49,681,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation