Incidental Mutation 'R0368:Ppp1r3a'
| ID |
30322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r3a
|
| Ensembl Gene |
ENSMUSG00000042717 |
| Gene Name |
protein phosphatase 1, regulatory subunit 3A |
| Synonyms |
RGL, GM |
| MMRRC Submission |
038574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0368 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14718959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 652
(T652A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
| AlphaFold |
Q99MR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045096
AA Change: T652A
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: T652A
| 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: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
T |
19: 8,985,714 (GRCm39) |
K2333* |
probably null |
Het |
| Aox4 |
C |
T |
1: 58,252,238 (GRCm39) |
L38F |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,845,519 (GRCm39) |
E111G |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,097,661 (GRCm39) |
I789N |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,937,796 (GRCm39) |
S286P |
possibly damaging |
Het |
| Chrnb1 |
T |
A |
11: 69,675,583 (GRCm39) |
K457M |
probably damaging |
Het |
| Cimip2a |
T |
A |
2: 25,110,685 (GRCm39) |
D164E |
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Cyb5r3 |
G |
A |
15: 83,042,993 (GRCm39) |
A233V |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,382,574 (GRCm39) |
L278* |
probably null |
Het |
| Dnmt1 |
T |
C |
9: 20,853,053 (GRCm39) |
E56G |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,775,973 (GRCm39) |
|
probably null |
Het |
| Fhip2a |
A |
G |
19: 57,357,010 (GRCm39) |
T34A |
possibly damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gabrr3 |
A |
G |
16: 59,260,959 (GRCm39) |
D289G |
probably damaging |
Het |
| Gpr45 |
T |
C |
1: 43,072,176 (GRCm39) |
L273P |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,247,486 (GRCm39) |
E125G |
probably null |
Het |
| Il25 |
A |
G |
14: 55,172,631 (GRCm39) |
|
probably null |
Het |
| Itfg1 |
A |
T |
8: 86,491,036 (GRCm39) |
W298R |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,387,967 (GRCm39) |
K547* |
probably null |
Het |
| Lama5 |
G |
A |
2: 179,823,023 (GRCm39) |
R2748* |
probably null |
Het |
| Lrp4 |
C |
T |
2: 91,308,079 (GRCm39) |
T508I |
probably damaging |
Het |
| Map3k10 |
C |
T |
7: 27,362,785 (GRCm39) |
V434I |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,979,970 (GRCm39) |
M1265V |
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
| Msh4 |
T |
A |
3: 153,594,462 (GRCm39) |
Y113F |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,090,904 (GRCm39) |
S218P |
probably damaging |
Het |
| Olig1 |
C |
T |
16: 91,067,540 (GRCm39) |
S259F |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,132 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or4k41 |
T |
C |
2: 111,280,133 (GRCm39) |
I216T |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,924,129 (GRCm39) |
V499A |
probably damaging |
Het |
| Pafah2 |
T |
C |
4: 134,149,802 (GRCm39) |
V371A |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,803,421 (GRCm39) |
M712L |
probably benign |
Het |
| Pkp1 |
T |
C |
1: 135,814,590 (GRCm39) |
S244G |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,134,795 (GRCm39) |
V108E |
probably damaging |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Sema5b |
T |
A |
16: 35,448,470 (GRCm39) |
V82E |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
A |
T |
11: 78,295,626 (GRCm39) |
L80* |
probably null |
Het |
| Slc1a5 |
C |
T |
7: 16,516,103 (GRCm39) |
P93L |
probably damaging |
Het |
| Slc35b2 |
T |
C |
17: 45,877,389 (GRCm39) |
V172A |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,907,958 (GRCm39) |
L195P |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,364,078 (GRCm39) |
S320N |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,883,927 (GRCm39) |
V589A |
probably benign |
Het |
| Stim2 |
G |
A |
5: 54,267,482 (GRCm39) |
|
probably null |
Het |
| V1ra8 |
A |
G |
6: 90,179,944 (GRCm39) |
D49G |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,869 (GRCm39) |
V27D |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,089 (GRCm39) |
K196* |
probably null |
Het |
| Wdr77 |
T |
C |
3: 105,869,382 (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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGTAACTGCTTGTGCTTTCTCAG -3'
(R):5'- TCAGTATTCCAGACCCAAGAGGGAC -3'
Sequencing Primer
(F):5'- GCTTTCTCAGTAATACCATGATCAGC -3'
(R):5'- TATTACAGCTAACACCTGGGCG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation