Incidental Mutation 'R3082:Ppp1r18'
ID |
265506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r18
|
Ensembl Gene |
ENSMUSG00000034595 |
Gene Name |
protein phosphatase 1, regulatory subunit 18 |
Synonyms |
2310014H01Rik |
MMRRC Submission |
040572-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R3082 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36176485-36186488 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36184742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 131
(D131G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113814]
[ENSMUST00000122899]
[ENSMUST00000127442]
[ENSMUST00000144382]
[ENSMUST00000187690]
[ENSMUST00000190496]
|
AlphaFold |
Q8BQ30 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113814
AA Change: D559G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109445 Gene: ENSMUSG00000034595 AA Change: D559G
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 damaging
Transcript: ENSMUST00000122899
AA Change: D559G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120343 Gene: ENSMUSG00000034595 AA Change: D559G
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 damaging
Transcript: ENSMUST00000127442
AA Change: D559G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115753 Gene: ENSMUSG00000034595 AA Change: D559G
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 damaging
Transcript: ENSMUST00000144382
AA Change: D559G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116100 Gene: ENSMUSG00000034595 AA Change: D559G
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 damaging
Transcript: ENSMUST00000187690
AA Change: D559G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141094 Gene: ENSMUSG00000034595 AA Change: D559G
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 damaging
Transcript: ENSMUST00000190496
AA Change: D131G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140652 Gene: ENSMUSG00000034595 AA Change: D131G
Domain | Start | End | E-Value | Type |
Pfam:Phostensin
|
1 |
113 |
3.6e-43 |
PFAM |
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0868 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (44/44) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
Adam11 |
T |
C |
11: 102,660,943 (GRCm39) |
|
probably benign |
Het |
Aox1 |
G |
T |
1: 58,322,759 (GRCm39) |
|
probably benign |
Het |
Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
Cep63 |
T |
C |
9: 102,479,696 (GRCm39) |
T339A |
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,267,112 (GRCm39) |
Y66H |
probably damaging |
Het |
Cpsf2 |
C |
G |
12: 101,955,069 (GRCm39) |
S280C |
probably damaging |
Het |
Dcaf6 |
G |
T |
1: 165,250,421 (GRCm39) |
|
probably benign |
Het |
Ddx39a |
T |
A |
8: 84,449,335 (GRCm39) |
N344K |
possibly damaging |
Het |
Dvl1 |
T |
C |
4: 155,932,316 (GRCm39) |
V42A |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,841,096 (GRCm39) |
|
probably benign |
Het |
Epb41l5 |
C |
T |
1: 119,536,992 (GRCm39) |
V300I |
probably damaging |
Het |
Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
Ints13 |
G |
T |
6: 146,476,205 (GRCm39) |
Q99K |
possibly damaging |
Het |
L2hgdh |
C |
T |
12: 69,768,858 (GRCm39) |
D85N |
probably benign |
Het |
Lct |
A |
G |
1: 128,215,345 (GRCm39) |
Y1744H |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,255,236 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
T |
4: 81,203,695 (GRCm39) |
|
probably benign |
Het |
Naa15 |
T |
C |
3: 51,367,471 (GRCm39) |
L498P |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,452,925 (GRCm39) |
E45D |
probably benign |
Het |
Nedd4l |
T |
A |
18: 65,312,049 (GRCm39) |
N405K |
probably benign |
Het |
Or4l15 |
A |
G |
14: 50,198,161 (GRCm39) |
Y123H |
probably damaging |
Het |
Or8u10 |
C |
T |
2: 85,916,053 (GRCm39) |
V23I |
probably benign |
Het |
Pitpnc1 |
A |
G |
11: 107,103,350 (GRCm39) |
S250P |
possibly damaging |
Het |
Prdm5 |
A |
G |
6: 65,913,069 (GRCm39) |
D206G |
probably damaging |
Het |
Pygl |
A |
G |
12: 70,244,303 (GRCm39) |
F455S |
probably damaging |
Het |
Rictor |
A |
T |
15: 6,804,338 (GRCm39) |
Y565F |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,745,071 (GRCm39) |
N3852D |
probably damaging |
Het |
S1pr5 |
A |
T |
9: 21,156,286 (GRCm39) |
C47S |
probably damaging |
Het |
Serpinf2 |
T |
C |
11: 75,328,354 (GRCm39) |
R65G |
probably benign |
Het |
Slfn14 |
C |
T |
11: 83,167,519 (GRCm39) |
W665* |
probably null |
Het |
Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
Spata18 |
A |
G |
5: 73,836,423 (GRCm39) |
|
probably benign |
Het |
Tex19.2 |
A |
G |
11: 121,007,557 (GRCm39) |
V297A |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,816,457 (GRCm39) |
|
probably null |
Het |
Trim9 |
T |
C |
12: 70,301,887 (GRCm39) |
R584G |
possibly damaging |
Het |
Trpm7 |
A |
T |
2: 126,686,342 (GRCm39) |
N295K |
possibly damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,473,534 (GRCm39) |
V461A |
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,724 (GRCm39) |
M82K |
probably benign |
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 |
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 |
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'- GGTCCCCTAGTAATGAACTTTCC -3'
(R):5'- ACGAGGGAGCTCTGGTTTTC -3'
Sequencing Primer
(F):5'- AGTAATGAACTTTCCTCCTCTCC -3'
(R):5'- CAAATCTGGAGATCCCATGTGTAC -3'
|
Posted On |
2015-02-05 |