Incidental Mutation 'R5729:Ppp1r3a'
| ID |
452651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r3a
|
| Ensembl Gene |
ENSMUSG00000042717 |
| Gene Name |
protein phosphatase 1, regulatory subunit 3A |
| Synonyms |
RGL, GM |
| MMRRC Submission |
043346-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5729 (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 14719762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 384
(D384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
| AlphaFold |
Q99MR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045096
AA Change: D384G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: D384G
| 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 |
0.1100 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (62/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,623,824 (GRCm39) |
V46E |
possibly damaging |
Het |
| Aldoart2 |
T |
C |
12: 55,612,690 (GRCm39) |
V205A |
probably benign |
Het |
| Atp1a2 |
A |
G |
1: 172,120,938 (GRCm39) |
S45P |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,411,851 (GRCm39) |
K29E |
possibly damaging |
Het |
| AU040320 |
T |
A |
4: 126,724,208 (GRCm39) |
D428E |
probably damaging |
Het |
| Bend7 |
T |
C |
2: 4,768,085 (GRCm39) |
L347P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,140,037 (GRCm39) |
L9* |
probably null |
Het |
| Ccdc103 |
A |
T |
11: 102,773,904 (GRCm39) |
I50F |
probably damaging |
Het |
| Cdc5l |
T |
C |
17: 45,737,495 (GRCm39) |
I88V |
probably benign |
Het |
| Cracr2a |
T |
C |
6: 127,584,199 (GRCm39) |
V86A |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dgkd |
C |
T |
1: 87,864,054 (GRCm39) |
Q90* |
probably null |
Het |
| Dnajc21 |
A |
T |
15: 10,449,682 (GRCm39) |
D446E |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,916,292 (GRCm39) |
R648S |
probably damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,858,450 (GRCm39) |
V226A |
probably damaging |
Het |
| Gm5499 |
A |
T |
17: 87,385,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,172 (GRCm39) |
E271* |
probably null |
Het |
| Krt86 |
T |
G |
15: 101,374,429 (GRCm39) |
V274G |
probably benign |
Het |
| Lats2 |
A |
T |
14: 57,960,192 (GRCm39) |
C151S |
probably benign |
Het |
| Mapk3 |
A |
T |
7: 126,363,979 (GRCm39) |
T254S |
probably benign |
Het |
| Mat2b |
A |
T |
11: 40,573,373 (GRCm39) |
M202K |
probably damaging |
Het |
| Mos |
A |
G |
4: 3,870,971 (GRCm39) |
Y282H |
probably benign |
Het |
| Myo3b |
A |
G |
2: 69,936,083 (GRCm39) |
K108R |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,593,220 (GRCm39) |
Y417H |
probably damaging |
Het |
| Oat |
A |
T |
7: 132,159,984 (GRCm39) |
I412N |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,272 (GRCm39) |
I278N |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,335,999 (GRCm39) |
V73D |
probably damaging |
Het |
| Pigv |
A |
T |
4: 133,392,134 (GRCm39) |
Y345* |
probably null |
Het |
| Pitpnc1 |
G |
T |
11: 107,228,264 (GRCm39) |
F34L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,942,838 (GRCm39) |
L1282P |
probably damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,008,856 (GRCm39) |
E119K |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,459 (GRCm39) |
N323I |
probably damaging |
Het |
| Rasa4 |
T |
C |
5: 136,122,016 (GRCm39) |
V108A |
probably benign |
Het |
| Rbm14 |
A |
G |
19: 4,852,577 (GRCm39) |
|
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,434,795 (GRCm39) |
V657E |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,250,371 (GRCm39) |
N237K |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,397,617 (GRCm39) |
Q1302R |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,818,645 (GRCm39) |
M287V |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,572,301 (GRCm39) |
|
probably null |
Het |
| Sema6a |
C |
T |
18: 47,414,410 (GRCm39) |
C506Y |
probably damaging |
Het |
| Senp1 |
G |
T |
15: 97,964,412 (GRCm39) |
H267Q |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,578 (GRCm39) |
E100G |
unknown |
Het |
| Slc38a11 |
A |
T |
2: 65,147,365 (GRCm39) |
C371S |
probably benign |
Het |
| Snai3 |
G |
A |
8: 123,181,629 (GRCm39) |
A276V |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spag6 |
C |
T |
2: 18,720,525 (GRCm39) |
T99I |
probably benign |
Het |
| Spop |
A |
G |
11: 95,376,675 (GRCm39) |
I243V |
possibly damaging |
Het |
| Sra1 |
A |
T |
18: 36,800,496 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,288,485 (GRCm39) |
S140T |
possibly damaging |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tbc1d2b |
G |
C |
9: 90,089,925 (GRCm39) |
A868G |
probably benign |
Het |
| Tead2 |
A |
G |
7: 44,870,166 (GRCm39) |
|
probably benign |
Het |
| Tmem53 |
C |
A |
4: 117,125,669 (GRCm39) |
H261N |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,844,627 (GRCm39) |
S932T |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,381,339 (GRCm39) |
D827E |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,733 (GRCm39) |
E309G |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,758,806 (GRCm39) |
S1026G |
probably benign |
Het |
| Zfp646 |
G |
A |
7: 127,484,626 (GRCm39) |
A1760T |
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 |
|
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 |
|
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'- ACCACATGCCATTCTTTGATCG -3'
(R):5'- CCAACGGTTAATAACTTCCCAGG -3'
Sequencing Primer
(F):5'- CCATTCTTTGATCGAAGGAAGAGCAC -3'
(R):5'- CCCAGGATGAAAAGAATACATTTGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation