Incidental Mutation 'R0098:Ppp1r18'
ID |
216098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r18
|
Ensembl Gene |
ENSMUSG00000034595 |
Gene Name |
protein phosphatase 1, regulatory subunit 18 |
Synonyms |
2310014H01Rik |
MMRRC Submission |
038384-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
R0098 (G1)
|
Quality Score |
68 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36176485-36186488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36178888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 254
(I254M)
|
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: I254M
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109445 Gene: ENSMUSG00000034595 AA Change: I254M
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: I254M
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000120343 Gene: ENSMUSG00000034595 AA Change: I254M
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: I254M
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000115753 Gene: ENSMUSG00000034595 AA Change: I254M
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: I254M
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116100 Gene: ENSMUSG00000034595 AA Change: I254M
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: I254M
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141094 Gene: ENSMUSG00000034595 AA Change: I254M
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.2%
|
Validation Efficiency |
100% (54/54) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
C |
3: 36,127,689 (GRCm39) |
I97T |
probably damaging |
Het |
Acp3 |
C |
T |
9: 104,197,144 (GRCm39) |
|
probably null |
Het |
Adam32 |
T |
A |
8: 25,404,405 (GRCm39) |
Y200F |
possibly damaging |
Het |
Alpk2 |
A |
G |
18: 65,482,982 (GRCm39) |
L342S |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,465,390 (GRCm39) |
V2151A |
probably damaging |
Het |
Atm |
T |
C |
9: 53,429,869 (GRCm39) |
D389G |
probably benign |
Het |
Atp10b |
A |
T |
11: 43,080,431 (GRCm39) |
S236C |
probably benign |
Het |
B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
Cndp1 |
T |
A |
18: 84,646,949 (GRCm39) |
E246D |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,909,792 (GRCm39) |
L1078P |
probably damaging |
Het |
Cyp20a1 |
G |
T |
1: 60,426,413 (GRCm39) |
E452* |
probably null |
Het |
Emb |
T |
C |
13: 117,404,034 (GRCm39) |
V262A |
probably damaging |
Het |
Ephb1 |
C |
T |
9: 101,918,339 (GRCm39) |
R390H |
probably damaging |
Het |
Faf1 |
T |
C |
4: 109,792,696 (GRCm39) |
L556S |
probably damaging |
Het |
Fam237b |
T |
A |
5: 5,625,355 (GRCm39) |
L17Q |
possibly damaging |
Het |
Fbf1 |
A |
T |
11: 116,038,945 (GRCm39) |
|
probably null |
Het |
Gid8 |
T |
A |
2: 180,356,528 (GRCm39) |
I55N |
possibly damaging |
Het |
Hexa |
T |
C |
9: 59,465,383 (GRCm39) |
Y213H |
probably damaging |
Het |
Kalrn |
A |
T |
16: 33,795,989 (GRCm39) |
I1262K |
possibly damaging |
Het |
Lrp1 |
C |
T |
10: 127,388,607 (GRCm39) |
V3281I |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,305,756 (GRCm39) |
D2935G |
probably damaging |
Het |
Lypd6 |
T |
A |
2: 50,080,792 (GRCm39) |
V160E |
probably benign |
Het |
Muc19 |
C |
T |
15: 91,777,101 (GRCm39) |
|
noncoding transcript |
Het |
Mybpc1 |
T |
C |
10: 88,365,426 (GRCm39) |
D899G |
probably benign |
Het |
Myo18a |
A |
G |
11: 77,736,591 (GRCm39) |
E1564G |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,226,971 (GRCm39) |
D202G |
probably damaging |
Het |
Palld |
C |
A |
8: 61,978,120 (GRCm39) |
G890V |
probably damaging |
Het |
Pcx |
C |
A |
19: 4,651,775 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,573,920 (GRCm39) |
W62R |
probably damaging |
Het |
Ppa2 |
C |
T |
3: 133,076,234 (GRCm39) |
|
probably benign |
Het |
Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
Rd3 |
A |
G |
1: 191,717,261 (GRCm39) |
M244V |
probably benign |
Het |
Rfx5 |
T |
A |
3: 94,865,679 (GRCm39) |
V326E |
probably damaging |
Het |
Rgs3 |
G |
C |
4: 62,544,143 (GRCm39) |
R305P |
probably damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,970 (GRCm39) |
Y173H |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,731,376 (GRCm39) |
N645D |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,302,446 (GRCm39) |
V657A |
possibly damaging |
Het |
Serpina3n |
T |
A |
12: 104,379,777 (GRCm39) |
V390E |
probably damaging |
Het |
Shank1 |
A |
G |
7: 43,962,709 (GRCm39) |
Y141C |
unknown |
Het |
Stat2 |
T |
A |
10: 128,119,131 (GRCm39) |
H428Q |
probably damaging |
Het |
Stat5a |
A |
T |
11: 100,766,452 (GRCm39) |
Q378L |
probably damaging |
Het |
Tfrc |
G |
T |
16: 32,442,244 (GRCm39) |
V490F |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,512,044 (GRCm39) |
N155S |
probably damaging |
Het |
Topaz1 |
T |
C |
9: 122,619,188 (GRCm39) |
Y1262H |
possibly damaging |
Het |
Ubxn8 |
T |
C |
8: 34,125,393 (GRCm39) |
|
probably benign |
Het |
Unk |
A |
G |
11: 115,940,995 (GRCm39) |
Y252C |
probably damaging |
Het |
Vmn2r66 |
A |
C |
7: 84,654,965 (GRCm39) |
M448R |
probably damaging |
Het |
Zfp386 |
T |
A |
12: 116,022,834 (GRCm39) |
L184* |
probably null |
Het |
Zfp985 |
T |
C |
4: 147,661,566 (GRCm39) |
S4P |
probably 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 |
IGL03339:Ppp1r18
|
APN |
17 |
36,178,938 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCAAGAGTCAAGTTCGAGGTC -3'
(R):5'- TGTATCTATGTCCCAGGTCGTCCG -3'
Sequencing Primer
(F):5'- CTGAGTTCCAGACCAGCAGAG -3'
(R):5'- CCAGAGTTTAGGGTCCATTTCCAG -3'
|
Posted On |
2014-07-21 |