Incidental Mutation 'R8736:Ppp1r18'
| ID |
663049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r18
|
| Ensembl Gene |
ENSMUSG00000034595 |
| Gene Name |
protein phosphatase 1, regulatory subunit 18 |
| Synonyms |
2310014H01Rik |
| MMRRC Submission |
068617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R8736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36176485-36186488 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36184711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 549
(T549A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113814]
[ENSMUST00000122899]
[ENSMUST00000127442]
[ENSMUST00000144382]
[ENSMUST00000187690]
[ENSMUST00000190496]
|
| AlphaFold |
Q8BQ30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113814
AA Change: T549A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595
AA Change: T549A
| 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: T549A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595
AA Change: T549A
| 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: T549A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595
AA Change: T549A
| 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: T549A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595
AA Change: T549A
| 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: ENSMUST00000187690
AA Change: T549A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595
AA Change: T549A
| 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: ENSMUST00000190496
AA Change: T121A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140652
Gene: ENSMUSG00000034595
AA Change: T121A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phostensin
|
1 |
113 |
3.6e-43 |
PFAM |
|
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.8%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp2 |
T |
A |
11: 78,178,875 (GRCm39) |
S2047T |
probably benign |
Het |
| Ccdc125 |
T |
C |
13: 100,815,833 (GRCm39) |
S100P |
possibly damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,865,447 (GRCm39) |
T35A |
unknown |
Het |
| Cul2 |
T |
A |
18: 3,434,019 (GRCm39) |
V672E |
probably damaging |
Het |
| Cyb5a |
C |
A |
18: 84,869,560 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
T |
A |
14: 45,836,642 (GRCm39) |
Y831F |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,995,104 (GRCm39) |
I698T |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,393,320 (GRCm39) |
I18F |
probably benign |
Het |
| Fcgbp |
G |
T |
7: 27,805,621 (GRCm39) |
V1967L |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,972 (GRCm39) |
N177S |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,047 (GRCm39) |
Y242H |
probably damaging |
Het |
| Mab21l2 |
C |
A |
3: 86,454,607 (GRCm39) |
R131L |
probably damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,726 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,103,396 (GRCm39) |
T38A |
probably benign |
Het |
| Mapkapk5 |
G |
A |
5: 121,665,241 (GRCm39) |
A338V |
possibly damaging |
Het |
| Morc2a |
C |
A |
11: 3,631,737 (GRCm39) |
T556K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,462,139 (GRCm39) |
Q7459* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,228,439 (GRCm39) |
T1256A |
possibly damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,384 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or4b12 |
A |
G |
2: 90,095,922 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,309 (GRCm39) |
C256R |
probably damaging |
Het |
| Or7g20 |
G |
T |
9: 18,946,774 (GRCm39) |
M118I |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,358 (GRCm39) |
I199V |
probably benign |
Het |
| Or9s18 |
T |
G |
13: 65,300,538 (GRCm39) |
C167G |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,975,464 (GRCm39) |
V701A |
possibly damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,046,261 (GRCm39) |
I918N |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,307,053 (GRCm39) |
S118G |
possibly damaging |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,512 (GRCm39) |
I559V |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,141,975 (GRCm39) |
T200A |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,821,105 (GRCm39) |
I488V |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,467,221 (GRCm39) |
M93L |
probably damaging |
Het |
| Zfp870 |
A |
T |
17: 33,104,966 (GRCm39) |
V31E |
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 |
|
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 |
|
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 |
|
|
R9416:Ppp1r18
|
UTSW |
17 |
36,184,743 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2021-03-08 |
Incidental Mutation