Incidental Mutation 'R5841:Ppp1r3a'
ID |
450432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r3a
|
Ensembl Gene |
ENSMUSG00000042717 |
Gene Name |
protein phosphatase 1, regulatory subunit 3A |
Synonyms |
RGL, GM |
MMRRC Submission |
044061-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5841 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14718983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 644
(T644A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
AlphaFold |
Q99MR9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045096
AA Change: T644A
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000049054 Gene: ENSMUSG00000042717 AA Change: T644A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (67/67) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
A |
T |
1: 75,150,994 (GRCm39) |
F565L |
possibly damaging |
Het |
Abhd6 |
T |
A |
14: 8,049,596 (GRCm38) |
V188D |
probably benign |
Het |
Bbs12 |
T |
G |
3: 37,373,670 (GRCm39) |
N39K |
probably benign |
Het |
Bend5 |
A |
G |
4: 111,290,667 (GRCm39) |
Y221C |
probably damaging |
Het |
Brd8 |
A |
G |
18: 34,738,576 (GRCm39) |
S683P |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,715,183 (GRCm39) |
D79G |
probably damaging |
Het |
Cdyl |
T |
C |
13: 36,056,544 (GRCm39) |
L509P |
probably damaging |
Het |
Cenpf |
G |
T |
1: 189,389,641 (GRCm39) |
T1397N |
possibly damaging |
Het |
Ckap5 |
T |
A |
2: 91,431,027 (GRCm39) |
M1479K |
probably benign |
Het |
Cpsf2 |
T |
C |
12: 101,951,497 (GRCm39) |
S145P |
probably damaging |
Het |
Cyp4a12a |
A |
T |
4: 115,183,899 (GRCm39) |
H235L |
probably benign |
Het |
Cyp7b1 |
A |
T |
3: 18,151,670 (GRCm39) |
F181Y |
probably damaging |
Het |
Dennd5b |
T |
C |
6: 148,946,253 (GRCm39) |
T453A |
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,089,193 (GRCm39) |
D263G |
probably damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Dync2li1 |
G |
A |
17: 84,940,990 (GRCm39) |
G69R |
probably damaging |
Het |
Edc3 |
T |
C |
9: 57,651,885 (GRCm39) |
V331A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ganc |
C |
T |
2: 120,242,020 (GRCm39) |
T66I |
possibly damaging |
Het |
Gm11595 |
C |
A |
11: 99,663,143 (GRCm39) |
C179F |
unknown |
Het |
Gnptg |
A |
G |
17: 25,454,391 (GRCm39) |
S159P |
probably damaging |
Het |
Gsdmc2 |
C |
T |
15: 63,698,059 (GRCm39) |
V349I |
probably benign |
Het |
Hydin |
T |
C |
8: 111,259,846 (GRCm39) |
I2606T |
possibly damaging |
Het |
Ino80d |
A |
G |
1: 63,097,999 (GRCm39) |
S632P |
probably damaging |
Het |
Kcnn2 |
G |
A |
18: 45,692,463 (GRCm39) |
R13H |
probably benign |
Het |
Klb |
A |
T |
5: 65,536,667 (GRCm39) |
K666* |
probably null |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,930,766 (GRCm39) |
I360V |
possibly damaging |
Het |
Lmbrd2 |
A |
G |
15: 9,182,657 (GRCm39) |
K576E |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,310,497 (GRCm39) |
Y2692F |
probably benign |
Het |
Meis2 |
T |
A |
2: 115,889,145 (GRCm39) |
E202D |
probably benign |
Het |
Mgat4c |
A |
T |
10: 102,224,826 (GRCm39) |
T347S |
probably damaging |
Het |
Mmp12 |
G |
A |
9: 7,347,501 (GRCm39) |
C26Y |
possibly damaging |
Het |
Mrpl24 |
G |
A |
3: 87,830,292 (GRCm39) |
R145Q |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Mycbpap |
T |
A |
11: 94,396,436 (GRCm39) |
R135W |
probably damaging |
Het |
Myo1g |
T |
A |
11: 6,457,000 (GRCm39) |
Y942F |
probably benign |
Het |
Myrf |
T |
C |
19: 10,200,911 (GRCm39) |
K52R |
probably null |
Het |
Ncf2 |
A |
T |
1: 152,697,269 (GRCm39) |
|
silent |
Het |
Nherf2 |
A |
T |
17: 24,863,851 (GRCm39) |
M8K |
probably benign |
Het |
Or51f1e |
T |
C |
7: 102,747,161 (GRCm39) |
F71S |
probably damaging |
Het |
Otx1 |
T |
C |
11: 21,948,594 (GRCm39) |
|
probably benign |
Het |
Pcnx1 |
T |
A |
12: 81,965,429 (GRCm39) |
V532D |
possibly damaging |
Het |
Pik3r5 |
T |
C |
11: 68,383,096 (GRCm39) |
L305P |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,898 (GRCm39) |
R324* |
probably null |
Het |
Polr3a |
A |
T |
14: 24,500,766 (GRCm39) |
C1341S |
probably benign |
Het |
Pramel22 |
A |
G |
4: 143,382,109 (GRCm39) |
S196P |
possibly damaging |
Het |
Ptbp1 |
A |
G |
10: 79,695,766 (GRCm39) |
D289G |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,007,952 (GRCm39) |
F868L |
probably benign |
Het |
Rgs8 |
A |
G |
1: 153,568,574 (GRCm39) |
E153G |
probably damaging |
Het |
Rhbdf2 |
G |
A |
11: 116,493,180 (GRCm39) |
|
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,192,271 (GRCm39) |
H78R |
probably damaging |
Het |
Sdr16c6 |
C |
T |
4: 4,062,728 (GRCm39) |
A197T |
possibly damaging |
Het |
Slc36a3 |
A |
T |
11: 55,016,547 (GRCm39) |
Y349* |
probably null |
Het |
Slc38a9 |
T |
C |
13: 112,831,856 (GRCm39) |
L202P |
possibly damaging |
Het |
Slc40a1 |
A |
T |
1: 45,951,509 (GRCm39) |
M216K |
probably damaging |
Het |
Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
Srp54b |
A |
G |
12: 55,299,614 (GRCm39) |
N315S |
probably benign |
Het |
Strc |
A |
G |
2: 121,196,358 (GRCm39) |
F1557L |
probably benign |
Het |
Susd3 |
C |
A |
13: 49,392,202 (GRCm39) |
|
probably benign |
Het |
Usp54 |
G |
A |
14: 20,600,351 (GRCm39) |
T1462I |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,787 (GRCm39) |
N150K |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,231,958 (GRCm39) |
H606Y |
probably benign |
Het |
Zmym6 |
A |
G |
4: 126,994,463 (GRCm39) |
I206V |
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 |
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'- TCTAGCAGACGCGCTTTCTG -3'
(R):5'- AGAACCAGGAACTAGTGATCTTAG -3'
Sequencing Primer
(F):5'- AGACGCGCTTTCTGGAGTAC -3'
(R):5'- AGTTCTCCAAGGAATTTCAGCC -3'
|
Posted On |
2016-12-20 |