Incidental Mutation 'R5741:Ppp1r3a'
ID |
444783 |
Institutional Source |
Beutler Lab
|
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 # |
R5741 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14719882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 344
(V344A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
AlphaFold |
Q99MR9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045096
AA Change: V344A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000049054 Gene: ENSMUSG00000042717 AA Change: V344A
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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810010H24Rik |
T |
G |
11: 106,919,315 (GRCm39) |
F220C |
probably damaging |
Het |
Acox3 |
C |
T |
5: 35,765,668 (GRCm39) |
H140Y |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,488,618 (GRCm39) |
I938K |
probably benign |
Het |
Ap3m1 |
A |
C |
14: 21,095,788 (GRCm39) |
I14S |
possibly damaging |
Het |
Arg1 |
T |
C |
10: 24,793,897 (GRCm39) |
T127A |
probably benign |
Het |
Asah2 |
A |
G |
19: 31,986,015 (GRCm39) |
Y552H |
probably damaging |
Het |
Cfap97d2 |
A |
T |
8: 13,784,835 (GRCm39) |
Q32L |
possibly damaging |
Het |
Chst12 |
A |
G |
5: 140,509,688 (GRCm39) |
N105S |
probably benign |
Het |
Cped1 |
G |
A |
6: 22,123,620 (GRCm39) |
V458I |
probably benign |
Het |
Cyld |
T |
G |
8: 89,471,474 (GRCm39) |
I786S |
probably damaging |
Het |
Cyp2j8 |
C |
T |
4: 96,332,880 (GRCm39) |
V489I |
probably benign |
Het |
Dlgap4 |
T |
C |
2: 156,552,968 (GRCm39) |
Y462H |
probably damaging |
Het |
Dnah5 |
C |
A |
15: 28,246,513 (GRCm39) |
A617D |
probably benign |
Het |
Erc2 |
T |
A |
14: 28,024,826 (GRCm39) |
|
probably null |
Het |
Fancm |
A |
G |
12: 65,148,389 (GRCm39) |
N668S |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,938,625 (GRCm39) |
I636V |
probably benign |
Het |
Gtf2h2 |
A |
T |
13: 100,617,066 (GRCm39) |
C247S |
probably benign |
Het |
Hyal5 |
T |
A |
6: 24,876,494 (GRCm39) |
H122Q |
probably damaging |
Het |
Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
Lrguk |
T |
A |
6: 34,025,802 (GRCm39) |
D199E |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,808,615 (GRCm39) |
D95G |
probably benign |
Het |
Map2k1 |
A |
T |
9: 64,121,883 (GRCm39) |
L30Q |
possibly damaging |
Het |
Nell1 |
G |
A |
7: 50,210,638 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
T |
A |
8: 106,805,698 (GRCm39) |
I181N |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,354,133 (GRCm39) |
K1668R |
possibly damaging |
Het |
Or5b113 |
A |
G |
19: 13,342,847 (GRCm39) |
N285S |
probably damaging |
Het |
Or7e170 |
A |
G |
9: 19,794,857 (GRCm39) |
V248A |
possibly damaging |
Het |
Or8d2 |
T |
A |
9: 38,759,899 (GRCm39) |
L163* |
probably null |
Het |
Otud7b |
C |
T |
3: 96,051,615 (GRCm39) |
T189I |
probably damaging |
Het |
Pkia |
A |
T |
3: 7,507,105 (GRCm39) |
E62D |
probably benign |
Het |
Plcb3 |
G |
A |
19: 6,931,790 (GRCm39) |
Q1154* |
probably null |
Het |
Pole4 |
T |
C |
6: 82,628,447 (GRCm39) |
E105G |
probably damaging |
Het |
Ptpn21 |
A |
T |
12: 98,645,548 (GRCm39) |
L1130Q |
probably damaging |
Het |
Rapgef5 |
A |
G |
12: 117,719,764 (GRCm39) |
D564G |
probably damaging |
Het |
Samhd1 |
C |
T |
2: 156,954,751 (GRCm39) |
R387H |
probably benign |
Het |
Spag1 |
A |
G |
15: 36,183,849 (GRCm39) |
K65E |
possibly damaging |
Het |
Spata31d1d |
A |
T |
13: 59,876,500 (GRCm39) |
V345D |
possibly damaging |
Het |
Spin1 |
G |
A |
13: 51,303,171 (GRCm39) |
V255I |
possibly damaging |
Het |
Tmem171 |
A |
G |
13: 98,828,559 (GRCm39) |
V197A |
probably benign |
Het |
Tmigd1 |
T |
C |
11: 76,797,916 (GRCm39) |
V86A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,542,417 (GRCm39) |
D31777G |
probably damaging |
Het |
Tymp |
T |
A |
15: 89,260,639 (GRCm39) |
M60L |
probably benign |
Het |
Ugdh |
T |
C |
5: 65,584,866 (GRCm39) |
T19A |
probably damaging |
Het |
Vmn1r234 |
G |
T |
17: 21,449,731 (GRCm39) |
C215F |
probably benign |
Het |
Wnt5b |
T |
C |
6: 119,410,690 (GRCm39) |
D250G |
probably damaging |
Het |
Xrn1 |
T |
A |
9: 95,927,604 (GRCm39) |
C1463S |
probably benign |
Het |
Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly damaging |
Het |
Zmynd8 |
T |
C |
2: 165,681,937 (GRCm39) |
D189G |
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 |
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'- ACTAGTGTCTCCCAGTGATGG -3'
(R):5'- AATGAGTCAGGGGAAATCTACC -3'
Sequencing Primer
(F):5'- AATTTCTTCTGAATGTGGATGACC -3'
(R):5'- TCAGGGGAAATCTACCAGATAATTAC -3'
|
Posted On |
2016-11-21 |