Incidental Mutation 'R6091:Ppp1r3a'
ID |
485918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r3a
|
Ensembl Gene |
ENSMUSG00000042717 |
Gene Name |
protein phosphatase 1, regulatory subunit 3A |
Synonyms |
RGL, GM |
MMRRC Submission |
044248-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6091 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 14719339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 525
(T525I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
AlphaFold |
Q99MR9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045096
AA Change: T525I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000049054 Gene: ENSMUSG00000042717 AA Change: T525I
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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
Validation Efficiency |
96% (54/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
G |
2: 35,252,348 (GRCm39) |
T50P |
possibly damaging |
Het |
Adad1 |
A |
G |
3: 37,139,118 (GRCm39) |
E396G |
possibly damaging |
Het |
Adamtsl3 |
T |
A |
7: 82,114,829 (GRCm39) |
C232S |
probably damaging |
Het |
AI606181 |
T |
C |
19: 41,582,063 (GRCm39) |
S78P |
unknown |
Het |
Amph |
T |
A |
13: 19,309,293 (GRCm39) |
M457K |
probably benign |
Het |
Ano1 |
A |
T |
7: 144,223,171 (GRCm39) |
M174K |
probably benign |
Het |
C3 |
T |
A |
17: 57,528,967 (GRCm39) |
K632* |
probably null |
Het |
Cep170 |
C |
T |
1: 176,583,397 (GRCm39) |
G994D |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,751,875 (GRCm39) |
V124A |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,761,691 (GRCm39) |
K2259E |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,784,402 (GRCm39) |
T137A |
unknown |
Het |
Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
Ddx42 |
A |
T |
11: 106,125,796 (GRCm39) |
Q282L |
probably damaging |
Het |
Fcgbp |
A |
G |
7: 27,804,390 (GRCm39) |
T1833A |
possibly damaging |
Het |
Fpr-rs3 |
A |
G |
17: 20,844,532 (GRCm39) |
I203T |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,818,796 (GRCm39) |
I2139T |
probably benign |
Het |
Frmpd2 |
T |
C |
14: 33,244,820 (GRCm39) |
V546A |
probably damaging |
Het |
Gbp11 |
G |
T |
5: 105,479,254 (GRCm39) |
T123N |
possibly damaging |
Het |
Hs3st1 |
G |
A |
5: 39,772,007 (GRCm39) |
P212L |
probably damaging |
Het |
Ifnb1 |
T |
A |
4: 88,440,813 (GRCm39) |
M67L |
probably benign |
Het |
Ighv1-54 |
T |
C |
12: 115,157,497 (GRCm39) |
N50S |
probably benign |
Het |
Ikzf4 |
G |
A |
10: 128,470,542 (GRCm39) |
T326I |
probably benign |
Het |
Ints2 |
A |
T |
11: 86,127,429 (GRCm39) |
V501E |
probably damaging |
Het |
Mfsd1 |
C |
A |
3: 67,507,270 (GRCm39) |
|
probably null |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mrps11 |
G |
A |
7: 78,438,466 (GRCm39) |
A73T |
possibly damaging |
Het |
Mterf4 |
T |
C |
1: 93,229,291 (GRCm39) |
E311G |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,347,635 (GRCm39) |
T176A |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,460,482 (GRCm39) |
L1495R |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,069,113 (GRCm39) |
T451A |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,220,715 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,310,443 (GRCm39) |
L201P |
probably damaging |
Het |
Nfxl1 |
G |
T |
5: 72,671,533 (GRCm39) |
L909I |
probably benign |
Het |
Nr3c1 |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
18: 39,620,011 (GRCm39) |
|
probably benign |
Het |
Or5aq1b |
T |
A |
2: 86,901,705 (GRCm39) |
S258C |
probably benign |
Het |
Plscr5 |
A |
G |
9: 92,086,437 (GRCm39) |
T136A |
probably benign |
Het |
Ptprg |
G |
A |
14: 12,215,979 (GRCm38) |
G1143R |
probably damaging |
Het |
Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,771,398 (GRCm39) |
T2541A |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,755,247 (GRCm39) |
L1244P |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,316,482 (GRCm39) |
H1673Y |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,428 (GRCm39) |
I44T |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,681 (GRCm39) |
N53Y |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,276,539 (GRCm39) |
T338A |
possibly damaging |
Het |
Taf6l |
T |
C |
19: 8,755,920 (GRCm39) |
T243A |
probably benign |
Het |
Tex10 |
T |
C |
4: 48,459,891 (GRCm39) |
R487G |
probably damaging |
Het |
Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
Tnxb |
G |
A |
17: 34,929,338 (GRCm39) |
V2794M |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,132,000 (GRCm39) |
C741G |
probably damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,184,684 (GRCm39) |
I208F |
probably damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,496,790 (GRCm39) |
I21F |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,545,958 (GRCm39) |
D610G |
probably benign |
Het |
Wbp1 |
T |
C |
6: 83,096,468 (GRCm39) |
S229G |
probably benign |
Het |
Xirp1 |
A |
G |
9: 119,847,029 (GRCm39) |
V618A |
probably benign |
Het |
Zbtb32 |
A |
G |
7: 30,291,254 (GRCm39) |
S14P |
possibly damaging |
Het |
Zfp24 |
A |
G |
18: 24,147,269 (GRCm39) |
S348P |
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 |
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 |
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'- AGGGCTGAAATTCCTTGGAG -3'
(R):5'- AAGAATGGCATGTGGTCTCAAG -3'
Sequencing Primer
(F):5'- GAGAACTAAGATCACTAGTTCCTGG -3'
(R):5'- TGGCATGTGGTCTCAAGAATAATG -3'
|
Posted On |
2017-08-16 |