Incidental Mutation 'IGL03339:Ppp1r18'
ID |
417151 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp1r18
|
Ensembl Gene |
ENSMUSG00000034595 |
Gene Name |
protein phosphatase 1, regulatory subunit 18 |
Synonyms |
2310014H01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
IGL03339
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36176485-36186488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36178938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 271
(D271G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074259]
[ENSMUST00000113814]
[ENSMUST00000122899]
[ENSMUST00000127442]
[ENSMUST00000144382]
[ENSMUST00000187690]
[ENSMUST00000190496]
[ENSMUST00000174873]
|
AlphaFold |
Q8BQ30 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074259
|
SMART Domains |
Protein: ENSMUSP00000073873 Gene: ENSMUSG00000059791
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
transmembrane domain
|
136 |
158 |
N/A |
INTRINSIC |
low complexity region
|
212 |
234 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113814
AA Change: D271G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000109445 Gene: ENSMUSG00000034595 AA Change: D271G
Domain | Start | End | E-Value | Type |
Pfam:Phostensin_N
|
28 |
117 |
1.3e-42 |
PFAM |
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
low complexity region
|
353 |
365 |
N/A |
INTRINSIC |
Pfam:Phostensin
|
417 |
541 |
7.7e-49 |
PFAM |
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122899
AA Change: D271G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000120343 Gene: ENSMUSG00000034595 AA Change: D271G
Domain | Start | End | E-Value | Type |
Pfam:Phostensin_N
|
28 |
117 |
1.3e-42 |
PFAM |
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
low complexity region
|
353 |
365 |
N/A |
INTRINSIC |
Pfam:Phostensin
|
417 |
541 |
7.7e-49 |
PFAM |
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127442
AA Change: D271G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000115753 Gene: ENSMUSG00000034595 AA Change: D271G
Domain | Start | End | E-Value | Type |
Pfam:Phostensin_N
|
27 |
117 |
1.5e-39 |
PFAM |
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
low complexity region
|
353 |
365 |
N/A |
INTRINSIC |
Pfam:Phostensin
|
417 |
540 |
6.9e-34 |
PFAM |
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144382
AA Change: D271G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000116100 Gene: ENSMUSG00000034595 AA Change: D271G
Domain | Start | End | E-Value | Type |
Pfam:Phostensin_N
|
28 |
117 |
1.3e-42 |
PFAM |
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
low complexity region
|
353 |
365 |
N/A |
INTRINSIC |
Pfam:Phostensin
|
417 |
541 |
7.7e-49 |
PFAM |
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145804
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172931
|
SMART Domains |
Protein: ENSMUSP00000134569 Gene: ENSMUSG00000059791
Domain | Start | End | E-Value | Type |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187690
AA Change: D271G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000141094 Gene: ENSMUSG00000034595 AA Change: D271G
Domain | Start | End | E-Value | Type |
Pfam:Phostensin_N
|
28 |
117 |
1.3e-42 |
PFAM |
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
low complexity region
|
353 |
365 |
N/A |
INTRINSIC |
Pfam:Phostensin
|
417 |
541 |
7.7e-49 |
PFAM |
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184224
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190496
|
SMART Domains |
Protein: ENSMUSP00000140652 Gene: ENSMUSG00000034595
Domain | Start | End | E-Value | Type |
Pfam:Phostensin
|
1 |
113 |
3.6e-43 |
PFAM |
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174873
|
SMART Domains |
Protein: ENSMUSP00000133355 Gene: ENSMUSG00000059791
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
A4gnt |
T |
C |
9: 99,502,601 (GRCm39) |
S254P |
probably damaging |
Het |
Actn4 |
A |
G |
7: 28,601,407 (GRCm39) |
L447P |
probably damaging |
Het |
Agbl2 |
C |
A |
2: 90,627,907 (GRCm39) |
S237R |
probably damaging |
Het |
Apc |
G |
A |
18: 34,431,527 (GRCm39) |
D309N |
probably damaging |
Het |
Arhgef3 |
A |
G |
14: 27,123,814 (GRCm39) |
M492V |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,121,442 (GRCm39) |
M1035K |
probably null |
Het |
Cfap69 |
T |
A |
5: 5,636,436 (GRCm39) |
|
probably benign |
Het |
Ctf1 |
A |
G |
7: 127,313,166 (GRCm39) |
N24S |
probably benign |
Het |
Cx3cr1 |
T |
A |
9: 119,880,503 (GRCm39) |
K300* |
probably null |
Het |
Ddx25 |
A |
T |
9: 35,453,299 (GRCm39) |
Y484N |
probably damaging |
Het |
Eif4g1 |
A |
G |
16: 20,499,734 (GRCm39) |
E506G |
possibly damaging |
Het |
Ficd |
G |
T |
5: 113,876,800 (GRCm39) |
R325L |
probably benign |
Het |
G6pc2 |
A |
G |
2: 69,051,239 (GRCm39) |
|
probably benign |
Het |
Gm11168 |
C |
A |
9: 3,004,767 (GRCm39) |
P103T |
probably benign |
Het |
Hbb-y |
A |
T |
7: 103,501,976 (GRCm39) |
H98Q |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,577,720 (GRCm39) |
S2014P |
probably benign |
Het |
Hoxc5 |
T |
C |
15: 102,922,568 (GRCm39) |
Y19H |
probably damaging |
Het |
Igfbpl1 |
A |
G |
4: 45,813,555 (GRCm39) |
|
probably benign |
Het |
Ighg2c |
A |
C |
12: 113,251,614 (GRCm39) |
V171G |
unknown |
Het |
Kctd13 |
A |
G |
7: 126,544,190 (GRCm39) |
D296G |
probably benign |
Het |
Mfsd2b |
A |
C |
12: 4,924,335 (GRCm39) |
M1R |
probably null |
Het |
Nipbl |
A |
G |
15: 8,380,360 (GRCm39) |
S811P |
probably benign |
Het |
Or10al2 |
G |
A |
17: 37,983,448 (GRCm39) |
C178Y |
possibly damaging |
Het |
Or10al3 |
G |
T |
17: 38,011,682 (GRCm39) |
M40I |
probably damaging |
Het |
Or52r1 |
G |
A |
7: 102,536,989 (GRCm39) |
R124C |
probably benign |
Het |
Or5b122 |
T |
G |
19: 13,563,439 (GRCm39) |
M257R |
probably damaging |
Het |
Pcolce2 |
T |
C |
9: 95,560,393 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
G |
T |
7: 116,017,256 (GRCm39) |
T167K |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,333,830 (GRCm39) |
I3013T |
probably damaging |
Het |
Rock1 |
A |
T |
18: 10,097,493 (GRCm39) |
M765K |
probably benign |
Het |
Sec16a |
T |
C |
2: 26,325,945 (GRCm39) |
Y1244C |
probably benign |
Het |
Taar7d |
T |
C |
10: 23,903,204 (GRCm39) |
C29R |
possibly damaging |
Het |
Tlcd4 |
C |
T |
3: 121,022,489 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
C |
2: 76,572,264 (GRCm39) |
F26210V |
probably damaging |
Het |
Ube2b |
A |
T |
11: 51,877,534 (GRCm39) |
V145D |
probably damaging |
Het |
Vmn1r219 |
T |
G |
13: 23,347,580 (GRCm39) |
S256R |
possibly damaging |
Het |
|
Other mutations in Ppp1r18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02285:Ppp1r18
|
APN |
17 |
36,178,148 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03188:Ppp1r18
|
APN |
17 |
36,178,857 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0098:Ppp1r18
|
UTSW |
17 |
36,178,888 (GRCm39) |
missense |
probably benign |
0.31 |
R0098:Ppp1r18
|
UTSW |
17 |
36,178,888 (GRCm39) |
missense |
probably benign |
0.31 |
R0310:Ppp1r18
|
UTSW |
17 |
36,184,603 (GRCm39) |
splice site |
probably benign |
|
R1569:Ppp1r18
|
UTSW |
17 |
36,179,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Ppp1r18
|
UTSW |
17 |
36,184,738 (GRCm39) |
missense |
probably damaging |
0.98 |
R3038:Ppp1r18
|
UTSW |
17 |
36,179,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R3082:Ppp1r18
|
UTSW |
17 |
36,184,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R4513:Ppp1r18
|
UTSW |
17 |
36,179,196 (GRCm39) |
missense |
probably damaging |
0.98 |
R5301:Ppp1r18
|
UTSW |
17 |
36,179,237 (GRCm39) |
missense |
probably benign |
0.00 |
R5415:Ppp1r18
|
UTSW |
17 |
36,178,511 (GRCm39) |
missense |
probably benign |
0.00 |
R5482:Ppp1r18
|
UTSW |
17 |
36,184,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R5707:Ppp1r18
|
UTSW |
17 |
36,178,128 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R6235:Ppp1r18
|
UTSW |
17 |
36,184,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R7062:Ppp1r18
|
UTSW |
17 |
36,179,103 (GRCm39) |
missense |
probably damaging |
0.99 |
R7620:Ppp1r18
|
UTSW |
17 |
36,178,191 (GRCm39) |
missense |
probably benign |
0.03 |
R7767:Ppp1r18
|
UTSW |
17 |
36,178,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R7993:Ppp1r18
|
UTSW |
17 |
36,184,718 (GRCm39) |
missense |
probably benign |
|
R8736:Ppp1r18
|
UTSW |
17 |
36,184,711 (GRCm39) |
missense |
probably benign |
|
R9416:Ppp1r18
|
UTSW |
17 |
36,184,743 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2016-08-02 |