Incidental Mutation 'R9399:Ppp1r3a'
| ID |
710990 |
| 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 # |
R9399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14755010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
| AlphaFold |
Q99MR9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045096
AA Change: V79A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: V79A
| 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: 98.9%
|
| 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 |
|---|
| 3425401B19Rik |
A |
C |
14: 32,384,615 (GRCm39) |
L450R |
probably damaging |
Het |
| 4933427I04Rik |
T |
A |
4: 123,754,413 (GRCm39) |
L109* |
probably null |
Het |
| Amotl2 |
T |
C |
9: 102,606,531 (GRCm39) |
L576P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,618,179 (GRCm39) |
N1891S |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,763,455 (GRCm39) |
H1563L |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,664,588 (GRCm39) |
T732A |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,780,713 (GRCm39) |
I312T |
probably benign |
Het |
| Bcl9 |
C |
T |
3: 97,113,289 (GRCm39) |
M1055I |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,791 (GRCm39) |
N180D |
possibly damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,021 (GRCm39) |
T356S |
probably benign |
Het |
| Cdh18 |
A |
C |
15: 23,173,899 (GRCm39) |
T38P |
probably damaging |
Het |
| Cdk7 |
G |
T |
13: 100,840,988 (GRCm39) |
P308Q |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,468,592 (GRCm39) |
A1715V |
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,367,842 (GRCm39) |
V590D |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,916,584 (GRCm39) |
G364R |
unknown |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Fgfr4 |
C |
T |
13: 55,304,293 (GRCm39) |
T111M |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,739 (GRCm39) |
T190S |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
| Glra3 |
T |
A |
8: 56,542,079 (GRCm39) |
I274N |
probably damaging |
Het |
| Gpsm2 |
G |
A |
3: 108,590,090 (GRCm39) |
R499* |
probably null |
Het |
| Gzme |
T |
A |
14: 56,355,796 (GRCm39) |
D172V |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,717,385 (GRCm39) |
D536E |
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,643,335 (GRCm39) |
T151A |
probably benign |
Het |
| Kctd7 |
T |
C |
5: 130,177,033 (GRCm39) |
Y95H |
probably damaging |
Het |
| Lipe |
A |
T |
7: 25,097,227 (GRCm39) |
C239S |
probably benign |
Het |
| Lpcat3 |
T |
C |
6: 124,640,283 (GRCm39) |
S38P |
probably benign |
Het |
| Mical2 |
C |
T |
7: 111,946,082 (GRCm39) |
R1015C |
probably damaging |
Het |
| Midn |
C |
T |
10: 79,992,210 (GRCm39) |
R421* |
probably null |
Het |
| Mmp17 |
A |
T |
5: 129,671,686 (GRCm39) |
K79* |
probably null |
Het |
| Or8b39 |
A |
G |
9: 37,997,020 (GRCm39) |
H296R |
probably benign |
Het |
| Or8k16 |
G |
C |
2: 85,520,395 (GRCm39) |
L207F |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,282,744 (GRCm39) |
|
probably null |
Het |
| Prkd3 |
G |
T |
17: 79,264,719 (GRCm39) |
P633H |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,591,794 (GRCm39) |
S294C |
probably damaging |
Het |
| Raph1 |
T |
A |
1: 60,565,154 (GRCm39) |
Q111L |
probably benign |
Het |
| Rufy3 |
A |
T |
5: 88,797,725 (GRCm39) |
N634I |
possibly damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,265,486 (GRCm39) |
V1102G |
probably benign |
Het |
| Sh2b1 |
AGCTCAGCC |
AGCTCAGCCCCGGGGACCCGCTCAGCC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GG |
GGCACCAGCTCAGCCCCGCG |
7: 126,066,762 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGACCAGCTCAGCCACG |
GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG |
7: 126,066,744 (GRCm39) |
|
probably benign |
Het |
| Slc25a23 |
C |
A |
17: 57,360,930 (GRCm39) |
G165C |
probably damaging |
Het |
| Spata31e1 |
T |
A |
13: 49,940,175 (GRCm39) |
T512S |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,041,658 (GRCm39) |
D585E |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,858,856 (GRCm39) |
T372A |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,214,768 (GRCm39) |
Y250* |
probably null |
Het |
| Vmn2r92 |
T |
A |
17: 18,389,137 (GRCm39) |
S484T |
probably benign |
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 |
|
R9302:Ppp1r3a
|
UTSW |
6 |
14,721,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AATGCCCTTCATGCTTGACC -3'
(R):5'- GAACCTGGTCAGATTAGCAAAG -3'
Sequencing Primer
(F):5'- TTCATGCTTGACCCGGGAAG -3'
(R):5'- CCTGGTCAGATTAGCAAAGATAAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation