Incidental Mutation 'IGL01417:Ppp1r3b'
| ID |
80440 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r3b
|
| Ensembl Gene |
ENSMUSG00000046794 |
| Gene Name |
protein phosphatase 1, regulatory subunit 3B |
| Synonyms |
GL |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
IGL01417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
35842893-35855293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35851566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 135
(E135G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070481]
[ENSMUST00000210337]
[ENSMUST00000211648]
|
| AlphaFold |
Q8C767 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070481
AA Change: E135G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065679
Gene: ENSMUSG00000046794
AA Change: E135G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBM_21
|
126 |
232 |
1e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210337
AA Change: E135G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211472
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211648
AA Change: E135G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-in point mutation exhibit improved glucose tolerance and increased weight loss and serum glucose level in response to a 36 hour fast. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa13 |
T |
A |
15: 58,228,043 (GRCm39) |
|
noncoding transcript |
Het |
| Ctdsp2 |
T |
C |
10: 126,829,743 (GRCm39) |
I125T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,623,759 (GRCm39) |
K1044E |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,570,898 (GRCm39) |
Y44C |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,435,345 (GRCm39) |
|
probably null |
Het |
| Flnb |
T |
C |
14: 7,905,513 (GRCm38) |
S1088P |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,520 (GRCm39) |
|
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,953,786 (GRCm39) |
C117* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,734,990 (GRCm39) |
D174G |
probably damaging |
Het |
| Htatip2 |
G |
A |
7: 49,420,573 (GRCm39) |
V140I |
possibly damaging |
Het |
| Mill1 |
G |
T |
7: 17,998,708 (GRCm39) |
R306L |
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,800,081 (GRCm39) |
T249I |
possibly damaging |
Het |
| Nrdc |
T |
C |
4: 108,858,027 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,449,046 (GRCm39) |
H22L |
probably benign |
Het |
| Pcbp1 |
T |
C |
6: 86,502,836 (GRCm39) |
H21R |
probably damaging |
Het |
| Pdcd2l |
A |
C |
7: 33,892,170 (GRCm39) |
L221R |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,184,100 (GRCm39) |
E71G |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,585,200 (GRCm39) |
R472G |
probably benign |
Het |
| Sox8 |
A |
C |
17: 25,786,502 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
G |
T |
3: 134,535,242 (GRCm39) |
W70L |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,535,307 (GRCm39) |
I92F |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,111 (GRCm39) |
N1156S |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,920 (GRCm39) |
I37T |
possibly damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,191 (GRCm39) |
I160F |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,522,377 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ppp1r3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Ppp1r3b
|
APN |
8 |
35,851,476 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01526:Ppp1r3b
|
APN |
8 |
35,851,872 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02286:Ppp1r3b
|
APN |
8 |
35,851,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02429:Ppp1r3b
|
APN |
8 |
35,851,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03371:Ppp1r3b
|
APN |
8 |
35,851,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0091:Ppp1r3b
|
UTSW |
8 |
35,851,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:Ppp1r3b
|
UTSW |
8 |
35,851,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Ppp1r3b
|
UTSW |
8 |
35,851,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Ppp1r3b
|
UTSW |
8 |
35,851,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Ppp1r3b
|
UTSW |
8 |
35,851,379 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6008:Ppp1r3b
|
UTSW |
8 |
35,851,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Ppp1r3b
|
UTSW |
8 |
35,851,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7873:Ppp1r3b
|
UTSW |
8 |
35,851,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8832:Ppp1r3b
|
UTSW |
8 |
35,851,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-11-05 |
Incidental Mutation