Incidental Mutation 'R8868:Ppp1r3a'
| ID |
676078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r3a
|
| Ensembl Gene |
ENSMUSG00000042717 |
| Gene Name |
protein phosphatase 1, regulatory subunit 3A |
| Synonyms |
RGL, GM |
| MMRRC Submission |
068683-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8868 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14755014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 78
(S78T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
| AlphaFold |
Q99MR9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045096
AA Change: S78T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: S78T
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
T |
A |
9: 26,890,544 (GRCm39) |
N255Y |
probably damaging |
Het |
| Accsl |
A |
C |
2: 93,696,490 (GRCm39) |
L36R |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,763,469 (GRCm39) |
V171E |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,794,451 (GRCm39) |
I491V |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,193,842 (GRCm39) |
|
probably null |
Het |
| Ak9 |
G |
T |
10: 41,258,869 (GRCm39) |
E789* |
probably null |
Het |
| Akr1c19 |
T |
A |
13: 4,293,070 (GRCm39) |
N275K |
probably benign |
Het |
| Alg1 |
A |
G |
16: 5,061,557 (GRCm39) |
H398R |
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,209 (GRCm39) |
I232N |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,989,080 (GRCm39) |
I437V |
probably benign |
Het |
| Catsper4 |
A |
G |
4: 133,954,417 (GRCm39) |
|
probably null |
Het |
| Cdhr17 |
G |
A |
5: 17,028,152 (GRCm39) |
G449D |
probably benign |
Het |
| Crnn |
T |
C |
3: 93,055,609 (GRCm39) |
C132R |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,553 (GRCm39) |
H337L |
probably damaging |
Het |
| Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,710,654 (GRCm39) |
N419S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,625,503 (GRCm39) |
D621G |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,694 (GRCm39) |
L448Q |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,042,987 (GRCm39) |
H1922Y |
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,095,301 (GRCm39) |
I329N |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,927,988 (GRCm39) |
V266M |
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,725 (GRCm39) |
T376A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,908,671 (GRCm38) |
T1350A |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,016,077 (GRCm39) |
E999G |
unknown |
Het |
| Hivep1 |
A |
G |
13: 42,312,407 (GRCm39) |
Q1549R |
possibly damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,446 (GRCm39) |
V128M |
possibly damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,402,899 (GRCm39) |
S66P |
possibly damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,187 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,230,488 (GRCm39) |
E451G |
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,132,600 (GRCm39) |
S64T |
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,355,452 (GRCm39) |
E332V |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,374,567 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
C |
A |
17: 85,078,920 (GRCm39) |
G265C |
probably damaging |
Het |
| Nav1 |
G |
T |
1: 135,512,943 (GRCm39) |
A39E |
probably benign |
Het |
| Ogfod1 |
G |
T |
8: 94,773,906 (GRCm39) |
D103Y |
probably damaging |
Het |
| Or7g20 |
T |
G |
9: 18,946,778 (GRCm39) |
Y120D |
probably damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,285 (GRCm39) |
C162Y |
probably damaging |
Het |
| Or8g37 |
A |
G |
9: 39,731,252 (GRCm39) |
T106A |
probably benign |
Het |
| Rnf148 |
A |
T |
6: 23,654,540 (GRCm39) |
V152E |
probably damaging |
Het |
| Sdf2 |
A |
T |
11: 78,136,970 (GRCm39) |
H50L |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,700 (GRCm39) |
M116L |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,496,114 (GRCm39) |
S53P |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,528,132 (GRCm39) |
Y35C |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,686,751 (GRCm39) |
Y189F |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Strn4 |
G |
A |
7: 16,560,570 (GRCm39) |
E241K |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,135,578 (GRCm39) |
I510T |
possibly damaging |
Het |
| Svop |
T |
C |
5: 114,170,854 (GRCm39) |
D395G |
probably damaging |
Het |
| Tbc1d14 |
A |
C |
5: 36,728,888 (GRCm39) |
S159R |
probably damaging |
Het |
| Tex50 |
T |
A |
1: 160,984,848 (GRCm39) |
I131F |
possibly damaging |
Het |
| Tssk1 |
A |
G |
16: 17,712,884 (GRCm39) |
K223R |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,252,002 (GRCm39) |
I1565V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,541,938 (GRCm39) |
F33683I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,783,470 (GRCm39) |
M887V |
unknown |
Het |
| Usp45 |
G |
A |
4: 21,815,399 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
C |
T |
3: 108,498,841 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
A |
G |
9: 119,846,871 (GRCm39) |
S671P |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,274,682 (GRCm39) |
D5G |
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp260 |
T |
G |
7: 29,804,914 (GRCm39) |
Y271* |
probably null |
Het |
| Zfp369 |
T |
A |
13: 65,445,082 (GRCm39) |
S742T |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,802,015 (GRCm39) |
D87E |
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 |
|
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 |
|
|
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'- ATAATGCCCTTCATGCTTGACC -3'
(R):5'- CTGAAGAACCTGGTCAGATTAGC -3'
Sequencing Primer
(F):5'- TTCATGCTTGACCCGGGAAG -3'
(R):5'- CCTGGTCAGATTAGCAAAGATAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation