Incidental Mutation 'R4513:Ppp1r18'
| ID |
334541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r18
|
| Ensembl Gene |
ENSMUSG00000034595 |
| Gene Name |
protein phosphatase 1, regulatory subunit 18 |
| Synonyms |
2310014H01Rik |
| MMRRC Submission |
041759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R4513 (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 36179196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 357
(E357G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074259]
[ENSMUST00000113814]
[ENSMUST00000122899]
[ENSMUST00000127442]
[ENSMUST00000144382]
[ENSMUST00000187690]
[ENSMUST00000174873]
[ENSMUST00000190496]
|
| 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 damaging
Transcript: ENSMUST00000113814
AA Change: E357G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595
AA Change: E357G
| 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: E357G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595
AA Change: E357G
| 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: E357G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595
AA Change: E357G
| 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: E357G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595
AA Change: E357G
| 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 |
noncoding transcript
Transcript: ENSMUST00000184224
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187690
AA Change: E357G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595
AA Change: E357G
| 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: ENSMUST00000174873
|
| SMART Domains |
Protein: ENSMUSP00000133355
Gene: ENSMUSG00000059791
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0798 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,717,947 (GRCm39) |
I320V |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,842,787 (GRCm39) |
V45A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,465,242 (GRCm39) |
S312T |
probably damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cfap96 |
G |
T |
8: 46,421,175 (GRCm39) |
T116K |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,145,943 (GRCm39) |
I966N |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,327,168 (GRCm39) |
S952R |
probably null |
Het |
| Dop1a |
G |
A |
9: 86,402,612 (GRCm39) |
E1271K |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,880,460 (GRCm39) |
|
probably benign |
Het |
| Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,719,005 (GRCm39) |
V230A |
probably benign |
Het |
| Hsd17b14 |
C |
T |
7: 45,212,339 (GRCm39) |
L124F |
probably benign |
Het |
| Id3 |
G |
T |
4: 135,871,669 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,361 (GRCm39) |
M782T |
possibly damaging |
Het |
| Lsm12 |
T |
C |
11: 102,057,909 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
A |
13: 99,580,741 (GRCm39) |
D117V |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,752,238 (GRCm39) |
T807A |
probably damaging |
Het |
| Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,854,174 (GRCm39) |
I1257N |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,456 (GRCm39) |
Y459H |
probably damaging |
Het |
| Mkln1 |
T |
C |
6: 31,410,093 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
T |
17: 35,249,664 (GRCm39) |
I627N |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,637,204 (GRCm39) |
H488R |
probably benign |
Het |
| Nrg1 |
G |
T |
8: 32,967,105 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,782 (GRCm39) |
M82V |
probably benign |
Het |
| Or51q1 |
T |
C |
7: 103,628,648 (GRCm39) |
V89A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,986 (GRCm39) |
Y93F |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,107,034 (GRCm39) |
C910S |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,718 (GRCm39) |
M242V |
probably benign |
Het |
| Rbm11 |
T |
C |
16: 75,393,475 (GRCm39) |
F57S |
probably damaging |
Het |
| Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,599,382 (GRCm39) |
V719A |
unknown |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,992 (GRCm39) |
Y232* |
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Spanxn4 |
A |
T |
12: 62,734,886 (GRCm39) |
|
noncoding transcript |
Het |
| Spata31d1d |
T |
C |
13: 59,876,368 (GRCm39) |
Q389R |
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,706,231 (GRCm39) |
|
probably null |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,423,394 (GRCm39) |
D491G |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,443,468 (GRCm39) |
V215A |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,548 (GRCm39) |
T7A |
probably benign |
Het |
| Ube2q2 |
C |
A |
9: 55,057,084 (GRCm39) |
P56T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 102,988,019 (GRCm39) |
V208A |
probably damaging |
Het |
| Xkr7 |
T |
C |
2: 152,896,553 (GRCm39) |
I469T |
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 |
|
R3082:Ppp1r18
|
UTSW |
17 |
36,184,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTCAAGACATCACCTCGAGCG -3'
(R):5'- CCATAGAACAGACGGCTCATG -3'
Sequencing Primer
(F):5'- GACATCACCTCGAGCGAAGTG -3'
(R):5'- ACGGCTCATGAGGGGATC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation