Incidental Mutation 'IGL01526:Ppp1r3b'
| ID |
89558 |
| 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: 0.249)
|
| Stock # |
IGL01526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
35842893-35855293 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35851872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 237
(R237L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070481]
[ENSMUST00000210337]
[ENSMUST00000211648]
|
| AlphaFold |
Q8C767 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070481
AA Change: R237L
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000065679
Gene: ENSMUSG00000046794
AA Change: R237L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBM_21
|
126 |
232 |
1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210337
AA Change: R237L
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211648
AA Change: R237L
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
| 4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
| Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
| Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
| Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
| S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
| Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
| Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
| Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
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 |
|
IGL01417:Ppp1r3b
|
APN |
8 |
35,851,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-03 |
Incidental Mutation