Incidental Mutation 'IGL02563:Ppp1r3a'
ID |
298738 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp1r3a
|
Ensembl Gene |
ENSMUSG00000042717 |
Gene Name |
protein phosphatase 1, regulatory subunit 3A |
Synonyms |
RGL, GM |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02563
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 14719761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 384
(D384E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
AlphaFold |
Q99MR9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045096
AA Change: D384E
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000049054 Gene: ENSMUSG00000042717 AA Change: D384E
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
A |
T |
2: 35,270,410 (GRCm39) |
V97E |
probably damaging |
Het |
Abhd16a |
C |
T |
17: 35,320,221 (GRCm39) |
T362M |
probably damaging |
Het |
Adam23 |
T |
G |
1: 63,607,136 (GRCm39) |
|
probably benign |
Het |
Apeh |
C |
A |
9: 107,970,908 (GRCm39) |
R87L |
possibly damaging |
Het |
Arid3a |
T |
A |
10: 79,786,717 (GRCm39) |
M490K |
probably damaging |
Het |
Atp6v1b1 |
T |
A |
6: 83,732,433 (GRCm39) |
V251D |
probably benign |
Het |
Cog8 |
C |
T |
8: 107,783,055 (GRCm39) |
R78Q |
possibly damaging |
Het |
Cyld |
T |
C |
8: 89,462,522 (GRCm39) |
I701T |
probably damaging |
Het |
Dmgdh |
A |
G |
13: 93,811,047 (GRCm39) |
|
probably benign |
Het |
Dnm1 |
T |
C |
2: 32,205,931 (GRCm39) |
|
probably null |
Het |
Dop1b |
T |
A |
16: 93,574,293 (GRCm39) |
V2D |
probably damaging |
Het |
Dusp22 |
A |
T |
13: 30,889,628 (GRCm39) |
S70C |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,035,700 (GRCm39) |
Q3415R |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,163,498 (GRCm39) |
|
probably benign |
Het |
Fam114a1 |
G |
A |
5: 65,163,491 (GRCm39) |
|
probably null |
Het |
Fam20a |
T |
A |
11: 109,568,620 (GRCm39) |
Q302L |
possibly damaging |
Het |
Fancm |
T |
A |
12: 65,139,236 (GRCm39) |
L374H |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,857,317 (GRCm39) |
E2222K |
probably benign |
Het |
Fgf17 |
G |
A |
14: 70,874,178 (GRCm39) |
Q204* |
probably null |
Het |
Gap43 |
T |
C |
16: 42,112,495 (GRCm39) |
T89A |
probably benign |
Het |
Gm5069 |
A |
G |
1: 180,155,464 (GRCm39) |
|
probably benign |
Het |
Gm9913 |
C |
T |
2: 125,348,254 (GRCm39) |
|
probably benign |
Het |
Gpr174 |
T |
C |
X: 106,336,854 (GRCm39) |
L222P |
probably benign |
Het |
Grid2 |
A |
T |
6: 64,322,857 (GRCm39) |
Q619L |
possibly damaging |
Het |
Hoxc13 |
A |
G |
15: 102,830,233 (GRCm39) |
D204G |
possibly damaging |
Het |
Itgav |
T |
C |
2: 83,601,580 (GRCm39) |
V317A |
probably benign |
Het |
Keg1 |
A |
T |
19: 12,696,521 (GRCm39) |
N288I |
probably damaging |
Het |
Ksr1 |
C |
T |
11: 78,935,684 (GRCm39) |
V234I |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,387,555 (GRCm39) |
D3365V |
probably damaging |
Het |
Luc7l3 |
A |
T |
11: 94,190,894 (GRCm39) |
|
probably null |
Het |
Mta2 |
T |
C |
19: 8,925,415 (GRCm39) |
I348T |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,640,677 (GRCm39) |
I1015V |
probably benign |
Het |
Nup214 |
C |
T |
2: 31,867,872 (GRCm39) |
S113F |
probably damaging |
Het |
Or4f7 |
T |
C |
2: 111,644,162 (GRCm39) |
K303R |
probably benign |
Het |
Pabpn1l |
T |
A |
8: 123,347,122 (GRCm39) |
T228S |
probably damaging |
Het |
Paxx |
T |
C |
2: 25,349,674 (GRCm39) |
*206W |
probably null |
Het |
Pcdhb10 |
A |
G |
18: 37,546,126 (GRCm39) |
T401A |
probably benign |
Het |
Rif1 |
T |
C |
2: 51,967,077 (GRCm39) |
V122A |
probably damaging |
Het |
Scn4b |
T |
C |
9: 45,057,980 (GRCm39) |
L24P |
probably damaging |
Het |
Sec22c |
T |
C |
9: 121,513,716 (GRCm39) |
|
probably benign |
Het |
Sh3rf2 |
A |
G |
18: 42,289,207 (GRCm39) |
D676G |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,604 (GRCm39) |
T289A |
probably benign |
Het |
Tekt2 |
T |
C |
4: 126,218,418 (GRCm39) |
D84G |
possibly damaging |
Het |
Tgfbr2 |
T |
A |
9: 115,959,066 (GRCm39) |
N116I |
probably benign |
Het |
Tmem196 |
A |
G |
12: 119,910,209 (GRCm39) |
M1V |
probably null |
Het |
Tnn |
A |
G |
1: 159,942,123 (GRCm39) |
V1125A |
probably damaging |
Het |
Vmn2r51 |
A |
T |
7: 9,834,243 (GRCm39) |
M265K |
probably benign |
Het |
Zfp319 |
T |
C |
8: 96,050,362 (GRCm39) |
|
probably benign |
Het |
Zfp65 |
A |
T |
13: 67,856,184 (GRCm39) |
V365E |
possibly damaging |
Het |
Zp3 |
T |
A |
5: 136,016,464 (GRCm39) |
|
probably null |
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 |
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 |
R6826:Ppp1r3a
|
UTSW |
6 |
14,718,980 (GRCm39) |
nonsense |
probably null |
|
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 |
|
Posted On |
2015-04-16 |