Incidental Mutation 'R6826:Ppp1r3a'
| ID |
534155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r3a
|
| Ensembl Gene |
ENSMUSG00000042717 |
| Gene Name |
protein phosphatase 1, regulatory subunit 3A |
| Synonyms |
RGL, GM |
| MMRRC Submission |
045019-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6826 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 14718980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 645
(E645*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
| AlphaFold |
Q99MR9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045096
AA Change: E645*
|
| SMART Domains |
Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: E645*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
Pfam:CBM_21
|
124 |
231 |
2.3e-32 |
PFAM |
|
low complexity region
|
370 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
961 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1055 |
1077 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have reduced levels of skeletal muscle glycogen. Whereas one model was normoglycemic and grossly normal, another on a similar genetic background was glucose intolerant, insulin resistant, and gained weight to the point of obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,107,431 (GRCm39) |
N728S |
probably benign |
Het |
| Acaca |
T |
C |
11: 84,086,362 (GRCm39) |
S63P |
probably damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,325,733 (GRCm39) |
V120A |
probably benign |
Het |
| Ap4b1 |
G |
A |
3: 103,720,224 (GRCm39) |
|
probably null |
Het |
| Apol7e |
T |
A |
15: 77,602,491 (GRCm39) |
V363D |
probably damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,563,167 (GRCm39) |
L259Q |
probably damaging |
Het |
| Cdhr17 |
A |
G |
5: 17,013,292 (GRCm39) |
I219V |
unknown |
Het |
| Clca3a2 |
T |
C |
3: 144,523,815 (GRCm39) |
T57A |
possibly damaging |
Het |
| Copb1 |
T |
C |
7: 113,825,954 (GRCm39) |
T677A |
probably benign |
Het |
| Crhr2 |
T |
C |
6: 55,094,725 (GRCm39) |
|
probably benign |
Het |
| Cyp11a1 |
A |
G |
9: 57,932,370 (GRCm39) |
T228A |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,008,247 (GRCm39) |
I2084V |
probably benign |
Het |
| Dnajc17 |
T |
C |
2: 119,011,408 (GRCm39) |
K174R |
probably damaging |
Het |
| Dnm2 |
T |
A |
9: 21,415,767 (GRCm39) |
Y646* |
probably null |
Het |
| Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
| Elmo3 |
A |
T |
8: 106,033,378 (GRCm39) |
I115F |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,826,883 (GRCm39) |
T268A |
probably benign |
Het |
| F10 |
T |
C |
8: 13,096,165 (GRCm39) |
|
probably null |
Het |
| Fmo4 |
C |
T |
1: 162,631,338 (GRCm39) |
V210M |
probably damaging |
Het |
| Foxred2 |
G |
T |
15: 77,831,285 (GRCm39) |
H509Q |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,371 (GRCm39) |
I101M |
probably damaging |
Het |
| Igkv5-48 |
T |
C |
6: 69,703,584 (GRCm39) |
Y107C |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,958,095 (GRCm39) |
|
probably null |
Het |
| Leng8 |
T |
A |
7: 4,148,319 (GRCm39) |
V697E |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,189,000 (GRCm39) |
N21S |
unknown |
Het |
| Midn |
T |
A |
10: 79,989,961 (GRCm39) |
C126* |
probably null |
Het |
| Mlh3 |
A |
T |
12: 85,292,598 (GRCm39) |
V1303E |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,357 (GRCm39) |
L526P |
probably damaging |
Het |
| Or10ag55-ps1 |
G |
A |
2: 87,114,672 (GRCm39) |
E13K |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,452 (GRCm39) |
V173E |
probably benign |
Het |
| Pde6b |
C |
T |
5: 108,578,458 (GRCm39) |
R799* |
probably null |
Het |
| Pde9a |
A |
G |
17: 31,685,414 (GRCm39) |
D382G |
probably benign |
Het |
| Pdrg1 |
A |
C |
2: 152,852,176 (GRCm39) |
|
probably null |
Het |
| Peg10 |
C |
CATCAGGATG |
6: 4,756,353 (GRCm39) |
|
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,112,300 (GRCm39) |
|
probably null |
Het |
| Ptprb |
T |
A |
10: 116,153,277 (GRCm39) |
M578K |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,810,241 (GRCm39) |
V314F |
probably damaging |
Het |
| Rps9 |
C |
A |
7: 3,708,775 (GRCm39) |
D84E |
probably benign |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Serpina1e |
A |
G |
12: 103,915,397 (GRCm39) |
F270L |
probably benign |
Het |
| Slc24a5 |
G |
A |
2: 124,910,778 (GRCm39) |
V70I |
probably benign |
Het |
| Slfn14 |
C |
A |
11: 83,172,644 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
G |
T |
11: 60,669,688 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Snx16 |
A |
T |
3: 10,503,148 (GRCm39) |
V33D |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,194,483 (GRCm39) |
T131A |
probably damaging |
Het |
| Tnfaip8l3 |
G |
T |
9: 53,934,783 (GRCm39) |
T64K |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,567 (GRCm39) |
Y809* |
probably null |
Het |
| Vmn2r25 |
A |
G |
6: 123,800,071 (GRCm39) |
V757A |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,182,327 (GRCm39) |
Y457* |
probably null |
Het |
| Wee1 |
T |
C |
7: 109,723,870 (GRCm39) |
|
probably null |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,907 (GRCm39) |
E520G |
probably damaging |
Het |
| Zfp579 |
G |
T |
7: 4,997,425 (GRCm39) |
A162D |
probably benign |
Het |
| Zfp811 |
A |
G |
17: 33,016,762 (GRCm39) |
F425S |
probably damaging |
Het |
|
| Other mutations in Ppp1r3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Ppp1r3a
|
APN |
6 |
14,755,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00670:Ppp1r3a
|
APN |
6 |
14,719,059 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL00703:Ppp1r3a
|
APN |
6 |
14,718,407 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00726:Ppp1r3a
|
APN |
6 |
14,717,851 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL00742:Ppp1r3a
|
APN |
6 |
14,718,608 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01477:Ppp1r3a
|
APN |
6 |
14,718,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01632:Ppp1r3a
|
APN |
6 |
14,754,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02162:Ppp1r3a
|
APN |
6 |
14,717,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Ppp1r3a
|
APN |
6 |
14,718,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02539:Ppp1r3a
|
APN |
6 |
14,718,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02563:Ppp1r3a
|
APN |
6 |
14,719,761 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02929:Ppp1r3a
|
APN |
6 |
14,719,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03110:Ppp1r3a
|
APN |
6 |
14,722,064 (GRCm39) |
splice site |
probably benign |
|
|
IGL03290:Ppp1r3a
|
APN |
6 |
14,754,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03326:Ppp1r3a
|
APN |
6 |
14,719,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
P0041:Ppp1r3a
|
UTSW |
6 |
14,719,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4445001:Ppp1r3a
|
UTSW |
6 |
14,717,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Ppp1r3a
|
UTSW |
6 |
14,717,660 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0077:Ppp1r3a
|
UTSW |
6 |
14,754,516 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0368:Ppp1r3a
|
UTSW |
6 |
14,718,959 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0391:Ppp1r3a
|
UTSW |
6 |
14,719,696 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1793:Ppp1r3a
|
UTSW |
6 |
14,754,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Ppp1r3a
|
UTSW |
6 |
14,717,981 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1855:Ppp1r3a
|
UTSW |
6 |
14,754,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Ppp1r3a
|
UTSW |
6 |
14,718,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Ppp1r3a
|
UTSW |
6 |
14,718,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Ppp1r3a
|
UTSW |
6 |
14,722,103 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2122:Ppp1r3a
|
UTSW |
6 |
14,721,874 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2437:Ppp1r3a
|
UTSW |
6 |
14,718,322 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2518:Ppp1r3a
|
UTSW |
6 |
14,719,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2887:Ppp1r3a
|
UTSW |
6 |
14,718,248 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2888:Ppp1r3a
|
UTSW |
6 |
14,718,248 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2889:Ppp1r3a
|
UTSW |
6 |
14,718,248 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3419:Ppp1r3a
|
UTSW |
6 |
14,719,413 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3886:Ppp1r3a
|
UTSW |
6 |
14,719,911 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3937:Ppp1r3a
|
UTSW |
6 |
14,719,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3938:Ppp1r3a
|
UTSW |
6 |
14,719,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4246:Ppp1r3a
|
UTSW |
6 |
14,719,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4561:Ppp1r3a
|
UTSW |
6 |
14,754,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Ppp1r3a
|
UTSW |
6 |
14,718,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4853:Ppp1r3a
|
UTSW |
6 |
14,719,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5076:Ppp1r3a
|
UTSW |
6 |
14,754,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Ppp1r3a
|
UTSW |
6 |
14,719,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Ppp1r3a
|
UTSW |
6 |
14,719,417 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5725:Ppp1r3a
|
UTSW |
6 |
14,719,348 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5729:Ppp1r3a
|
UTSW |
6 |
14,719,762 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5741:Ppp1r3a
|
UTSW |
6 |
14,719,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5841:Ppp1r3a
|
UTSW |
6 |
14,718,983 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5914:Ppp1r3a
|
UTSW |
6 |
14,718,988 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6091:Ppp1r3a
|
UTSW |
6 |
14,719,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6154:Ppp1r3a
|
UTSW |
6 |
14,754,603 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6218:Ppp1r3a
|
UTSW |
6 |
14,718,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6813:Ppp1r3a
|
UTSW |
6 |
14,719,570 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6869:Ppp1r3a
|
UTSW |
6 |
14,754,825 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7109:Ppp1r3a
|
UTSW |
6 |
14,719,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7188:Ppp1r3a
|
UTSW |
6 |
14,719,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Ppp1r3a
|
UTSW |
6 |
14,719,069 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7341:Ppp1r3a
|
UTSW |
6 |
14,718,749 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7770:Ppp1r3a
|
UTSW |
6 |
14,754,977 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7856:Ppp1r3a
|
UTSW |
6 |
14,718,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8309:Ppp1r3a
|
UTSW |
6 |
14,719,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8422:Ppp1r3a
|
UTSW |
6 |
14,718,434 (GRCm39) |
nonsense |
probably null |
|
|
R8868:Ppp1r3a
|
UTSW |
6 |
14,755,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9039:Ppp1r3a
|
UTSW |
6 |
14,754,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Ppp1r3a
|
UTSW |
6 |
14,722,098 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9302:Ppp1r3a
|
UTSW |
6 |
14,721,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9399:Ppp1r3a
|
UTSW |
6 |
14,755,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9565:Ppp1r3a
|
UTSW |
6 |
14,719,466 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9730:Ppp1r3a
|
UTSW |
6 |
14,721,923 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9767:Ppp1r3a
|
UTSW |
6 |
14,718,101 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9782:Ppp1r3a
|
UTSW |
6 |
14,718,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ppp1r3a
|
UTSW |
6 |
14,755,150 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACGCGCTTTCTGGAGTAC -3'
(R):5'- AACCAGGAACTAGTGATCTTAGTTCTC -3'
Sequencing Primer
(F):5'- ATAAGCTGTAACTGCTTGTGCTTTC -3'
(R):5'- AGTTCTCCAAGGAATTTCAGCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation