Incidental Mutation 'IGL03208:Ppp1r14c'
| ID |
413190 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r14c
|
| Ensembl Gene |
ENSMUSG00000040653 |
| Gene Name |
protein phosphatase 1, regulatory inhibitor subunit 14C |
| Synonyms |
6330514J04Rik, KEPI |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL03208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
3316057-3414975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3373531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 114
(D114V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043374]
[ENSMUST00000217573]
|
| AlphaFold |
Q8R4S0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043374
AA Change: D114V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045110
Gene: ENSMUSG00000040653
AA Change: D114V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
Pfam:PP1_inhibitor
|
36 |
164 |
1.1e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217573
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some prenatal lethality and enhanced behavioral response to morphine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
T |
C |
4: 40,186,424 (GRCm39) |
V612A |
possibly damaging |
Het |
| Cd72 |
T |
A |
4: 43,452,337 (GRCm39) |
T195S |
probably damaging |
Het |
| Cluh |
C |
A |
11: 74,560,332 (GRCm39) |
|
probably null |
Het |
| Cntn3 |
T |
C |
6: 102,164,060 (GRCm39) |
Y882C |
probably damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,813,833 (GRCm39) |
K645N |
probably benign |
Het |
| Entpd6 |
T |
A |
2: 150,610,838 (GRCm39) |
Y385N |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,431,452 (GRCm39) |
Y484C |
probably damaging |
Het |
| Exo1 |
G |
A |
1: 175,723,811 (GRCm39) |
A386T |
probably benign |
Het |
| Fam149b |
T |
C |
14: 20,401,370 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
G |
A |
1: 63,778,365 (GRCm39) |
E413K |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,376 (GRCm39) |
L405* |
probably null |
Het |
| Gpr75 |
A |
T |
11: 30,842,699 (GRCm39) |
I535F |
probably damaging |
Het |
| Irf2 |
A |
C |
8: 47,260,340 (GRCm39) |
I53L |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,980,046 (GRCm39) |
E28G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,853,974 (GRCm39) |
|
probably benign |
Het |
| Or10z1 |
A |
G |
1: 174,077,959 (GRCm39) |
F178S |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,326 (GRCm39) |
V196A |
probably benign |
Het |
| Plekhm1 |
T |
C |
11: 103,267,596 (GRCm39) |
K792E |
probably benign |
Het |
| Rnf20 |
G |
T |
4: 49,645,706 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,628,171 (GRCm39) |
P934S |
possibly damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,383,053 (GRCm39) |
E243G |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,396 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,500,716 (GRCm39) |
L147P |
probably damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,025 (GRCm39) |
S96R |
possibly damaging |
Het |
|
| Other mutations in Ppp1r14c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Thermite
|
UTSW |
10 |
3,373,510 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1779:Ppp1r14c
|
UTSW |
10 |
3,316,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Ppp1r14c
|
UTSW |
10 |
3,413,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2295:Ppp1r14c
|
UTSW |
10 |
3,316,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3705:Ppp1r14c
|
UTSW |
10 |
3,373,524 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4573:Ppp1r14c
|
UTSW |
10 |
3,413,416 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4575:Ppp1r14c
|
UTSW |
10 |
3,316,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4576:Ppp1r14c
|
UTSW |
10 |
3,316,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4863:Ppp1r14c
|
UTSW |
10 |
3,316,702 (GRCm39) |
small deletion |
probably benign |
|
|
R6705:Ppp1r14c
|
UTSW |
10 |
3,316,890 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7594:Ppp1r14c
|
UTSW |
10 |
3,316,670 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7686:Ppp1r14c
|
UTSW |
10 |
3,413,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Ppp1r14c
|
UTSW |
10 |
3,373,510 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9345:Ppp1r14c
|
UTSW |
10 |
3,373,567 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation