Incidental Mutation 'R1797:Ppp1r3a'
| ID |
202366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r3a
|
| Ensembl Gene |
ENSMUSG00000042717 |
| Gene Name |
protein phosphatase 1, regulatory subunit 3A |
| Synonyms |
RGL, GM |
| MMRRC Submission |
039827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1797 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
14713976-14755273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14717981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 978
(M978L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045096]
|
| AlphaFold |
Q99MR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045096
AA Change: M978L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: M978L
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,089,285 (GRCm39) |
K200E |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,803,225 (GRCm39) |
E687G |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Abcg3 |
C |
T |
5: 105,087,030 (GRCm39) |
S534N |
possibly damaging |
Het |
| Acp1 |
A |
G |
12: 30,946,113 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
A |
7: 133,569,590 (GRCm39) |
R295L |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,727,460 (GRCm39) |
E359D |
probably damaging |
Het |
| Alg1 |
C |
A |
16: 5,057,007 (GRCm39) |
H213Q |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,726,149 (GRCm39) |
W410R |
possibly damaging |
Het |
| As3mt |
A |
G |
19: 46,713,373 (GRCm39) |
T307A |
possibly damaging |
Het |
| Cdc14a |
T |
C |
3: 116,115,843 (GRCm39) |
I289V |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,044,114 (GRCm39) |
I18V |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 119,964,562 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
| Cnih2 |
T |
C |
19: 5,144,314 (GRCm39) |
K66E |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,356,851 (GRCm39) |
N491K |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,304,169 (GRCm39) |
E1253K |
probably benign |
Het |
| Dcc |
A |
C |
18: 71,500,232 (GRCm39) |
L1005R |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,739,439 (GRCm39) |
M200K |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,531,288 (GRCm39) |
Y292C |
probably damaging |
Het |
| Edc4 |
G |
T |
8: 106,617,717 (GRCm39) |
A1121S |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,832,041 (GRCm39) |
I210F |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,324,290 (GRCm39) |
T1226A |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,108,283 (GRCm39) |
R104C |
probably damaging |
Het |
| Frzb |
T |
C |
2: 80,276,872 (GRCm39) |
I105V |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,888,097 (GRCm39) |
D504G |
probably damaging |
Het |
| Gm42669 |
A |
T |
5: 107,655,683 (GRCm39) |
K1161* |
probably null |
Het |
| Gm6665 |
T |
C |
18: 31,953,186 (GRCm39) |
E63G |
possibly damaging |
Het |
| Gm9923 |
T |
C |
10: 72,145,593 (GRCm39) |
V148A |
probably benign |
Het |
| Hoxc5 |
T |
C |
15: 102,922,866 (GRCm39) |
I118T |
probably benign |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
| Impdh1 |
T |
A |
6: 29,207,168 (GRCm39) |
I59F |
probably damaging |
Het |
| Iqch |
G |
A |
9: 63,495,659 (GRCm39) |
P111S |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,651,856 (GRCm39) |
Q829K |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Kmt5b |
G |
T |
19: 3,864,833 (GRCm39) |
E632D |
probably benign |
Het |
| L2hgdh |
C |
T |
12: 69,746,340 (GRCm39) |
M373I |
probably benign |
Het |
| Map3k4 |
C |
T |
17: 12,482,906 (GRCm39) |
E604K |
probably benign |
Het |
| Mok |
T |
A |
12: 110,774,479 (GRCm39) |
Y420F |
probably benign |
Het |
| Nedd1 |
G |
A |
10: 92,534,601 (GRCm39) |
T303I |
possibly damaging |
Het |
| Nipal4 |
T |
A |
11: 46,042,160 (GRCm39) |
M174L |
probably benign |
Het |
| Or6c213 |
A |
C |
10: 129,574,578 (GRCm39) |
I69M |
probably benign |
Het |
| Pag1 |
T |
A |
3: 9,758,946 (GRCm39) |
T391S |
probably benign |
Het |
| Palm3 |
A |
G |
8: 84,755,432 (GRCm39) |
R315G |
probably benign |
Het |
| Patj |
C |
T |
4: 98,575,675 (GRCm39) |
R1177W |
probably damaging |
Het |
| Pbld2 |
G |
A |
10: 62,910,903 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
A |
T |
9: 44,627,842 (GRCm39) |
M81K |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,515,289 (GRCm39) |
F682L |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,747,392 (GRCm39) |
|
probably null |
Het |
| Plekha8 |
T |
A |
6: 54,617,959 (GRCm39) |
V518E |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,410 (GRCm39) |
C592S |
possibly damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,546 (GRCm39) |
D118E |
possibly damaging |
Het |
| Ptprg |
T |
C |
14: 12,199,743 (GRCm38) |
V52A |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,122,617 (GRCm39) |
M114T |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,230,723 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
G |
A |
8: 13,632,372 (GRCm39) |
P506L |
probably benign |
Het |
| Rps6kb1 |
G |
A |
11: 86,393,634 (GRCm39) |
R499* |
probably null |
Het |
| S1pr4 |
A |
G |
10: 81,335,024 (GRCm39) |
M150T |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
| Serpina1e |
T |
C |
12: 103,917,150 (GRCm39) |
K173R |
probably benign |
Het |
| Serpina3m |
T |
A |
12: 104,355,774 (GRCm39) |
I147N |
probably damaging |
Het |
| Sh3rf3 |
G |
T |
10: 58,922,489 (GRCm39) |
G522* |
probably null |
Het |
| Smad1 |
A |
T |
8: 80,070,473 (GRCm39) |
V355E |
probably damaging |
Het |
| Srsf11 |
A |
G |
3: 157,725,065 (GRCm39) |
V211A |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stt3a |
C |
T |
9: 36,654,711 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
C |
12: 76,010,557 (GRCm39) |
V2488A |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 56,993,463 (GRCm39) |
T568A |
possibly damaging |
Het |
| Tnn |
A |
C |
1: 159,968,258 (GRCm39) |
V378G |
probably damaging |
Het |
| Trim50 |
T |
C |
5: 135,382,355 (GRCm39) |
V69A |
possibly damaging |
Het |
| Ttll10 |
A |
T |
4: 156,132,024 (GRCm39) |
D19E |
probably damaging |
Het |
| Ushbp1 |
G |
A |
8: 71,841,567 (GRCm39) |
R421C |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,128 (GRCm39) |
T196A |
probably benign |
Het |
| Wdr64 |
G |
A |
1: 175,639,585 (GRCm39) |
S1028N |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,369,996 (GRCm39) |
Y373C |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,766,298 (GRCm39) |
K216* |
probably null |
Het |
| Zfp39 |
T |
C |
11: 58,791,486 (GRCm39) |
D67G |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,394,514 (GRCm39) |
I691T |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,758,215 (GRCm39) |
V716A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,976,105 (GRCm39) |
C791* |
probably null |
Het |
| Zfp932 |
G |
A |
5: 110,144,489 (GRCm39) |
|
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 |
|
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 |
|
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'- TGAAAGCAGAGACTCCCTGC -3'
(R):5'- TACCTTCTTACGGTGAAGAGAAAGC -3'
Sequencing Primer
(F):5'- AGAGACTCCCTGCCTTGAG -3'
(R):5'- TCTTACGGTGAAGAGAAAGCAGTTAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation