Incidental Mutation 'R4534:Ppp1r3c'
| ID |
333268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r3c
|
| Ensembl Gene |
ENSMUSG00000067279 |
| Gene Name |
protein phosphatase 1, regulatory subunit 3C |
| Synonyms |
protein targeting to glicogen, Ppp1r5, PTG |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4534 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
36709131-36714004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36711522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 83
(K83E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087321]
|
| AlphaFold |
Q7TMB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087321
AA Change: K83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084578
Gene: ENSMUSG00000067279
AA Change: K83E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
115 |
128 |
N/A |
INTRINSIC |
|
Pfam:CBM_21
|
151 |
257 |
5.5e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice are embyronic lethal. Heterozygotes have reduced glycogen stores, attenuated glycogen synthesis, glucose intolerance, hyperinsulinemia and insulin resistance. Mice homozygous for a different knock-out allele exhibit normal lifespan with enhanced whole body insulin sensitivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
C |
T |
4: 98,926,232 (GRCm39) |
T454I |
possibly damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clstn3 |
C |
T |
6: 124,436,179 (GRCm39) |
R190Q |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
C |
T |
5: 139,137,282 (GRCm39) |
Q212* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Eri2 |
T |
C |
7: 119,389,466 (GRCm39) |
T151A |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gm10320 |
G |
A |
13: 98,626,316 (GRCm39) |
P23S |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,217,814 (GRCm39) |
I240M |
possibly damaging |
Het |
| Heatr5b |
T |
C |
17: 79,118,025 (GRCm39) |
H806R |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,837,332 (GRCm39) |
V335A |
probably benign |
Het |
| Ifi205 |
G |
A |
1: 173,845,207 (GRCm39) |
P192S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna9 |
T |
C |
4: 88,510,285 (GRCm39) |
H113R |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,019 (GRCm39) |
F236S |
probably damaging |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Jmjd8 |
C |
T |
17: 26,047,984 (GRCm39) |
|
probably null |
Het |
| Lhx3 |
C |
T |
2: 26,094,026 (GRCm39) |
V66I |
probably benign |
Het |
| Nt5c2 |
C |
T |
19: 46,880,100 (GRCm39) |
C336Y |
probably damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,274,343 (GRCm39) |
V740I |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,648,112 (GRCm39) |
I104N |
possibly damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,613 (GRCm39) |
I101V |
probably benign |
Het |
| Or8g54 |
G |
T |
9: 39,707,296 (GRCm39) |
L208F |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,405,624 (GRCm39) |
E77D |
possibly damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,757 (GRCm39) |
Y18C |
probably benign |
Het |
| Stox2 |
A |
T |
8: 47,646,414 (GRCm39) |
S287T |
probably damaging |
Het |
| Sycp2 |
C |
A |
2: 177,996,802 (GRCm39) |
V1134F |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,953,931 (GRCm39) |
S1260N |
possibly damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Thoc5 |
C |
T |
11: 4,874,807 (GRCm39) |
R533* |
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Uchl5 |
C |
T |
1: 143,661,954 (GRCm39) |
T76I |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Xpa |
T |
C |
4: 46,185,624 (GRCm39) |
N118S |
probably benign |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,557,176 (GRCm39) |
D105G |
probably benign |
Het |
|
| Other mutations in Ppp1r3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Ppp1r3c
|
APN |
19 |
36,711,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00486:Ppp1r3c
|
APN |
19 |
36,711,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01865:Ppp1r3c
|
APN |
19 |
36,711,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02896:Ppp1r3c
|
APN |
19 |
36,710,865 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0110:Ppp1r3c
|
UTSW |
19 |
36,711,617 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0450:Ppp1r3c
|
UTSW |
19 |
36,711,617 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0456:Ppp1r3c
|
UTSW |
19 |
36,711,291 (GRCm39) |
nonsense |
probably null |
|
|
R0469:Ppp1r3c
|
UTSW |
19 |
36,711,617 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1539:Ppp1r3c
|
UTSW |
19 |
36,711,361 (GRCm39) |
missense |
probably benign |
|
|
R1859:Ppp1r3c
|
UTSW |
19 |
36,711,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Ppp1r3c
|
UTSW |
19 |
36,711,098 (GRCm39) |
missense |
probably benign |
|
|
R2229:Ppp1r3c
|
UTSW |
19 |
36,711,098 (GRCm39) |
missense |
probably benign |
|
|
R4535:Ppp1r3c
|
UTSW |
19 |
36,711,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Ppp1r3c
|
UTSW |
19 |
36,711,743 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4630:Ppp1r3c
|
UTSW |
19 |
36,710,915 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6015:Ppp1r3c
|
UTSW |
19 |
36,711,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Ppp1r3c
|
UTSW |
19 |
36,710,846 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8386:Ppp1r3c
|
UTSW |
19 |
36,711,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Ppp1r3c
|
UTSW |
19 |
36,711,736 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9540:Ppp1r3c
|
UTSW |
19 |
36,711,461 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9629:Ppp1r3c
|
UTSW |
19 |
36,711,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ppp1r3c
|
UTSW |
19 |
36,711,318 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCTTCTGAAAGCGGTCC -3'
(R):5'- GGACATGGCCATGAGGATTTG -3'
Sequencing Primer
(F):5'- CGGTCCCGGAAACTTAAGTAGTC -3'
(R):5'- GAGGATTTGCTTGGCTCATTCACC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation