Incidental Mutation 'R5415:Ppp1r18'
| ID |
427705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r18
|
| Ensembl Gene |
ENSMUSG00000034595 |
| Gene Name |
protein phosphatase 1, regulatory subunit 18 |
| Synonyms |
2310014H01Rik |
| MMRRC Submission |
042984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R5415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36176485-36186488 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36178511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 129
(N129D)
|
| 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 benign
Transcript: ENSMUST00000113814
AA Change: N129D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595
AA Change: N129D
| 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: N129D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595
AA Change: N129D
| 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: N129D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595
AA Change: N129D
| 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: N129D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595
AA Change: N129D
| 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: N129D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595
AA Change: N129D
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef18 |
G |
A |
8: 3,438,075 (GRCm39) |
R303H |
probably damaging |
Het |
| Ark2c |
C |
A |
18: 77,554,435 (GRCm39) |
V60L |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,570,690 (GRCm39) |
Q556L |
probably benign |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,816 (GRCm39) |
L400Q |
probably damaging |
Het |
| Cfap298 |
G |
T |
16: 90,722,953 (GRCm39) |
D260E |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,995,312 (GRCm39) |
E58G |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,313,553 (GRCm39) |
K241E |
possibly damaging |
Het |
| Ect2 |
C |
T |
3: 27,201,002 (GRCm39) |
C126Y |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,775,030 (GRCm39) |
T210A |
probably benign |
Het |
| Enpp2 |
G |
A |
15: 54,745,552 (GRCm39) |
H315Y |
probably damaging |
Het |
| Ero1b |
A |
T |
13: 12,616,656 (GRCm39) |
M362L |
probably benign |
Het |
| Exosc2 |
A |
G |
2: 31,562,578 (GRCm39) |
K73E |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,402,143 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm5 |
A |
G |
3: 107,804,811 (GRCm39) |
D101G |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,699 (GRCm39) |
D2137G |
probably benign |
Het |
| Mecom |
T |
C |
3: 30,011,675 (GRCm39) |
D619G |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,527,084 (GRCm39) |
I512V |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,937,658 (GRCm39) |
K753R |
probably null |
Het |
| Nfatc4 |
A |
G |
14: 56,070,091 (GRCm39) |
D753G |
probably benign |
Het |
| Or2l5 |
T |
A |
16: 19,333,996 (GRCm39) |
H130L |
possibly damaging |
Het |
| Or4c113 |
T |
A |
2: 88,885,240 (GRCm39) |
T177S |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,773,731 (GRCm39) |
T243S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,763,752 (GRCm39) |
A10V |
probably damaging |
Het |
| Pcdh8 |
C |
A |
14: 80,007,688 (GRCm39) |
E292* |
probably null |
Het |
| Pdpn |
A |
T |
4: 142,995,788 (GRCm39) |
V161D |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,711,628 (GRCm39) |
V1198A |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,342 (GRCm39) |
S21P |
probably benign |
Het |
| Plcb1 |
G |
T |
2: 135,189,322 (GRCm39) |
V817F |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,620,463 (GRCm39) |
Y579C |
probably benign |
Het |
| Psg29 |
C |
A |
7: 16,945,561 (GRCm39) |
|
probably null |
Het |
| Rims4 |
C |
T |
2: 163,760,596 (GRCm39) |
R3H |
probably benign |
Het |
| Rps6kl1 |
A |
T |
12: 85,186,155 (GRCm39) |
C292S |
probably benign |
Het |
| Uaca |
G |
T |
9: 60,777,421 (GRCm39) |
G603C |
possibly damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,416 (GRCm39) |
H228R |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,658 (GRCm39) |
T221A |
probably benign |
Het |
| Zfp647 |
C |
A |
15: 76,795,593 (GRCm39) |
V356L |
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 |
|
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'- CAGATGAATCTGCTGTCCTTTTG -3'
(R):5'- ACTGTCATCTCCAGAACCCG -3'
Sequencing Primer
(F):5'- TGGAGGCTATTGGACCAGTACATC -3'
(R):5'- AGTTTCTCCAGGGCTCAGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation