Incidental Mutation 'R9302:Ppp1r3a'
| ID |
705004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r3a
|
| Ensembl Gene |
ENSMUSG00000042717 |
| Gene Name |
protein phosphatase 1, regulatory subunit 3A |
| Synonyms |
RGL, GM |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14721891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 312
(K312E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
| AlphaFold |
Q99MR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045096
AA Change: K312E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: K312E
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (54/54) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
C |
2: 156,392,956 (GRCm39) |
L115P |
probably damaging |
Het |
| Acsl1 |
T |
A |
8: 46,983,470 (GRCm39) |
D494E |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,426 (GRCm39) |
V243A |
possibly damaging |
Het |
| Ak9 |
A |
T |
10: 41,196,486 (GRCm39) |
I103F |
|
Het |
| Ank3 |
C |
T |
10: 69,761,849 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,831,220 (GRCm39) |
I468L |
probably benign |
Het |
| Anxa2r1 |
A |
G |
13: 120,496,626 (GRCm39) |
I81T |
probably benign |
Het |
| Arhgef10l |
G |
A |
4: 140,242,548 (GRCm39) |
S959L |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cfap221 |
T |
C |
1: 119,853,365 (GRCm39) |
I776M |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,350,980 (GRCm39) |
Q25* |
probably null |
Het |
| Crabp2 |
C |
A |
3: 87,859,833 (GRCm39) |
L100I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,240,032 (GRCm39) |
D463G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,264,636 (GRCm39) |
L2602P |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,726,148 (GRCm39) |
Y182H |
probably damaging |
Het |
| Fhip1a |
C |
A |
3: 85,579,941 (GRCm39) |
D755Y |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,682,751 (GRCm39) |
C83S |
probably damaging |
Het |
| Frrs1 |
G |
T |
3: 116,692,899 (GRCm39) |
|
probably null |
Het |
| Gcnt3 |
A |
G |
9: 69,942,529 (GRCm39) |
L13P |
possibly damaging |
Het |
| Gm8094 |
T |
C |
14: 42,932,834 (GRCm39) |
D88G |
probably benign |
Het |
| Hfe |
C |
T |
13: 23,890,025 (GRCm39) |
M249I |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,685,099 (GRCm39) |
E172G |
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Ltb4r2 |
A |
T |
14: 55,999,733 (GRCm39) |
Q118L |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,008,481 (GRCm39) |
C1342S |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,904,947 (GRCm39) |
D3208G |
possibly damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,950 (GRCm39) |
T163A |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,696,826 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
G |
11: 115,776,238 (GRCm39) |
N610D |
possibly damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,430,882 (GRCm39) |
S390P |
probably damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,082,906 (GRCm39) |
F208L |
probably benign |
Het |
| Pde3b |
A |
G |
7: 114,122,621 (GRCm39) |
T730A |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,374,342 (GRCm39) |
T1931N |
possibly damaging |
Het |
| Pla2g15 |
C |
T |
8: 106,877,201 (GRCm39) |
A28V |
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,268,474 (GRCm39) |
D1007V |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,901,683 (GRCm39) |
|
probably null |
Het |
| Prmt5 |
G |
A |
14: 54,749,583 (GRCm39) |
T269I |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,009,540 (GRCm39) |
S793P |
probably benign |
Het |
| Rbm12b1 |
C |
A |
4: 12,146,181 (GRCm39) |
H718N |
probably benign |
Het |
| Rfx1 |
T |
A |
8: 84,817,662 (GRCm39) |
M512K |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,789 (GRCm39) |
E1441G |
probably damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,350,634 (GRCm39) |
V207I |
probably benign |
Het |
| Slc6a9 |
G |
A |
4: 117,706,596 (GRCm39) |
R7H |
possibly damaging |
Het |
| Sptlc1 |
A |
T |
13: 53,528,047 (GRCm39) |
V39D |
probably benign |
Het |
| Strc |
A |
T |
2: 121,211,336 (GRCm39) |
L3Q |
unknown |
Het |
| Svep1 |
C |
T |
4: 58,120,565 (GRCm39) |
E823K |
possibly damaging |
Het |
| Tat |
A |
G |
8: 110,725,031 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,800 (GRCm39) |
N190K |
possibly damaging |
Het |
| Tomt |
T |
C |
7: 101,549,826 (GRCm39) |
E154G |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,617,887 (GRCm39) |
V1228E |
possibly damaging |
Het |
| Trim55 |
G |
A |
3: 19,727,153 (GRCm39) |
V407M |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,873,338 (GRCm39) |
M5K |
possibly damaging |
Het |
| Ugt2a2 |
A |
C |
5: 87,609,940 (GRCm39) |
Y380* |
probably null |
Het |
| Usp46 |
A |
G |
5: 74,163,922 (GRCm39) |
Y272H |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,525 (GRCm39) |
|
probably benign |
Het |
| Zfp12 |
T |
A |
5: 143,230,421 (GRCm39) |
H281Q |
probably damaging |
Het |
| Zfp142 |
C |
A |
1: 74,606,302 (GRCm39) |
R1756L |
probably damaging |
Het |
| Zmynd10 |
T |
A |
9: 107,426,516 (GRCm39) |
I183K |
possibly 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 |
|
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 |
|
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'- CTCAAGCTAGATGGAGATGCTG -3'
(R):5'- ACCATTGCTAGCACCAGAAG -3'
Sequencing Primer
(F):5'- TGGGACAGAGTAAGCCATGC -3'
(R):5'- GCTAGCACCAGAAGAAAATAAATTTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation