Incidental Mutation 'R4093:Ppp1r12c'
ID |
317724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r12c
|
Ensembl Gene |
ENSMUSG00000019254 |
Gene Name |
protein phosphatase 1, regulatory subunit 12C |
Synonyms |
Mbs85, 2410197A17Rik |
MMRRC Submission |
041627-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R4093 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4484519-4504679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4486366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 601
(E601G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000013886
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013886]
[ENSMUST00000086372]
[ENSMUST00000124248]
[ENSMUST00000163137]
[ENSMUST00000163893]
[ENSMUST00000164987]
[ENSMUST00000171445]
|
AlphaFold |
Q3UMT1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013886
AA Change: E601G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000013886 Gene: ENSMUSG00000019254 AA Change: E601G
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
74 |
97 |
N/A |
INTRINSIC |
ANK
|
104 |
133 |
3.71e-4 |
SMART |
ANK
|
137 |
166 |
3.43e-8 |
SMART |
low complexity region
|
205 |
210 |
N/A |
INTRINSIC |
ANK
|
230 |
259 |
7.95e-4 |
SMART |
ANK
|
263 |
292 |
2.41e-3 |
SMART |
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
internal_repeat_2
|
450 |
508 |
2.86e-5 |
PROSPERO |
internal_repeat_2
|
545 |
599 |
2.86e-5 |
PROSPERO |
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
Pfam:PRKG1_interact
|
682 |
782 |
9.7e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086372
|
SMART Domains |
Protein: ENSMUSP00000083559 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
SH3
|
480 |
535 |
2.62e-11 |
SMART |
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124248
AA Change: E522G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120029 Gene: ENSMUSG00000019254 AA Change: E522G
Domain | Start | End | E-Value | Type |
ANK
|
25 |
54 |
3.71e-4 |
SMART |
ANK
|
58 |
87 |
3.43e-8 |
SMART |
low complexity region
|
126 |
131 |
N/A |
INTRINSIC |
ANK
|
151 |
180 |
7.95e-4 |
SMART |
ANK
|
184 |
213 |
2.41e-3 |
SMART |
low complexity region
|
290 |
306 |
N/A |
INTRINSIC |
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
PDB:2KJY|A
|
445 |
498 |
3e-11 |
PDB |
low complexity region
|
553 |
571 |
N/A |
INTRINSIC |
coiled coil region
|
604 |
704 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127329
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134738
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136863
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147679
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154710
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153101
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163137
|
SMART Domains |
Protein: ENSMUSP00000131345 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
100 |
1.9e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163893
|
SMART Domains |
Protein: ENSMUSP00000125840 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
SH3
|
480 |
535 |
2.62e-11 |
SMART |
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164987
|
SMART Domains |
Protein: ENSMUSP00000130665 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171445
|
SMART Domains |
Protein: ENSMUSP00000133206 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
96 |
226 |
5.8e-46 |
PFAM |
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
SH3
|
541 |
596 |
2.62e-11 |
SMART |
low complexity region
|
615 |
625 |
N/A |
INTRINSIC |
PDB:1WWU|A
|
693 |
759 |
1e-19 |
PDB |
low complexity region
|
762 |
776 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1191 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
92% (69/75) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,093,996 (GRCm39) |
M2173V |
probably damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Angpt1 |
T |
C |
15: 42,386,941 (GRCm39) |
T138A |
probably damaging |
Het |
Atp2c2 |
G |
A |
8: 120,476,610 (GRCm39) |
|
probably null |
Het |
Cadm2 |
A |
G |
16: 66,581,675 (GRCm39) |
V210A |
possibly damaging |
Het |
Cfap70 |
A |
T |
14: 20,459,181 (GRCm39) |
D671E |
probably damaging |
Het |
Chd2 |
C |
T |
7: 73,150,764 (GRCm39) |
E322K |
possibly damaging |
Het |
Chrnd |
C |
T |
1: 87,118,729 (GRCm39) |
Q29* |
probably null |
Het |
Cip2a |
T |
C |
16: 48,821,339 (GRCm39) |
|
probably benign |
Het |
Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
D030068K23Rik |
A |
G |
8: 109,978,091 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma2 |
T |
A |
11: 98,541,677 (GRCm39) |
S135T |
probably benign |
Het |
Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
Hoxb3 |
C |
A |
11: 96,236,926 (GRCm39) |
H335N |
probably damaging |
Het |
Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
Ighv1-19 |
G |
A |
12: 114,672,350 (GRCm39) |
T90I |
probably damaging |
Het |
Kansl3 |
C |
A |
1: 36,384,035 (GRCm39) |
S729I |
probably damaging |
Het |
Kcnab1 |
T |
C |
3: 65,207,035 (GRCm39) |
I137T |
possibly damaging |
Het |
Kcnt1 |
A |
T |
2: 25,767,927 (GRCm39) |
E12V |
probably damaging |
Het |
Klk15 |
A |
T |
7: 43,588,204 (GRCm39) |
S171C |
possibly damaging |
Het |
Lcn2 |
A |
T |
2: 32,277,728 (GRCm39) |
M1K |
probably null |
Het |
Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
Lrp8 |
T |
A |
4: 107,700,468 (GRCm39) |
C135* |
probably null |
Het |
Lrrc31 |
C |
A |
3: 30,749,671 (GRCm39) |
S54I |
probably damaging |
Het |
Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
Med27 |
G |
A |
2: 29,267,920 (GRCm39) |
|
probably benign |
Het |
Mical1 |
T |
C |
10: 41,362,933 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
T |
2: 181,453,191 (GRCm39) |
M799L |
probably damaging |
Het |
Nlrc4 |
T |
C |
17: 74,752,953 (GRCm39) |
M477V |
probably benign |
Het |
Npy4r |
T |
C |
14: 33,869,098 (GRCm39) |
I63M |
probably benign |
Het |
Or2t43 |
A |
T |
11: 58,457,655 (GRCm39) |
I172N |
probably damaging |
Het |
Or52e15 |
C |
T |
7: 104,645,842 (GRCm39) |
G90S |
probably benign |
Het |
Or8b1b |
T |
A |
9: 38,375,379 (GRCm39) |
L14Q |
probably null |
Het |
Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
Piezo1 |
A |
C |
8: 123,227,899 (GRCm39) |
|
probably null |
Het |
Proser1 |
T |
C |
3: 53,387,133 (GRCm39) |
|
probably null |
Het |
Psme2 |
A |
T |
14: 55,825,734 (GRCm39) |
N143K |
probably benign |
Het |
Pygo2 |
C |
A |
3: 89,340,571 (GRCm39) |
P323Q |
probably damaging |
Het |
Rab11b |
T |
C |
17: 33,968,763 (GRCm39) |
T77A |
possibly damaging |
Het |
Recql5 |
A |
G |
11: 115,795,714 (GRCm39) |
S190P |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,183 (GRCm39) |
F150L |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
Slc22a2 |
C |
T |
17: 12,831,281 (GRCm39) |
T357M |
probably damaging |
Het |
Spag6l |
A |
C |
16: 16,646,888 (GRCm39) |
N39K |
probably benign |
Het |
Srl |
A |
G |
16: 4,315,316 (GRCm39) |
S109P |
possibly damaging |
Het |
Tagap |
A |
T |
17: 8,148,255 (GRCm39) |
H152L |
probably damaging |
Het |
Tbx3 |
T |
A |
5: 119,818,813 (GRCm39) |
S463T |
probably benign |
Het |
Tcaf2 |
A |
G |
6: 42,619,772 (GRCm39) |
L85P |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,979 (GRCm39) |
S2332C |
probably damaging |
Het |
Trim60 |
A |
T |
8: 65,454,030 (GRCm39) |
M73K |
probably benign |
Het |
Trpc1 |
T |
C |
9: 95,588,918 (GRCm39) |
T769A |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,025,958 (GRCm39) |
L601Q |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,334,865 (GRCm39) |
Y154C |
possibly damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
Vmn1r57 |
G |
T |
7: 5,223,856 (GRCm39) |
S127I |
possibly damaging |
Het |
Vmn1r62 |
T |
A |
7: 5,678,943 (GRCm39) |
M208K |
probably damaging |
Het |
Vmn2r110 |
T |
C |
17: 20,803,642 (GRCm39) |
D311G |
possibly damaging |
Het |
Vmn2r48 |
C |
A |
7: 9,676,185 (GRCm39) |
S432I |
probably benign |
Het |
Vmn2r48 |
T |
A |
7: 9,676,186 (GRCm39) |
S432C |
probably damaging |
Het |
Vmn2r71 |
T |
C |
7: 85,270,442 (GRCm39) |
V536A |
probably benign |
Het |
Vstm2a |
A |
G |
11: 16,209,884 (GRCm39) |
T37A |
probably damaging |
Het |
Wfs1 |
T |
C |
5: 37,124,809 (GRCm39) |
H694R |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,348,940 (GRCm39) |
S2440P |
possibly damaging |
Het |
Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
Het |
Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably damaging |
Het |
|
Other mutations in Ppp1r12c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01124:Ppp1r12c
|
APN |
7 |
4,500,344 (GRCm39) |
splice site |
probably benign |
|
IGL01419:Ppp1r12c
|
APN |
7 |
4,489,351 (GRCm39) |
splice site |
probably null |
|
IGL02126:Ppp1r12c
|
APN |
7 |
4,492,858 (GRCm39) |
missense |
probably benign |
0.43 |
IGL03388:Ppp1r12c
|
APN |
7 |
4,485,069 (GRCm39) |
unclassified |
probably benign |
|
PIT4418001:Ppp1r12c
|
UTSW |
7 |
4,504,266 (GRCm39) |
missense |
probably null |
0.09 |
R0523:Ppp1r12c
|
UTSW |
7 |
4,492,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R0815:Ppp1r12c
|
UTSW |
7 |
4,489,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Ppp1r12c
|
UTSW |
7 |
4,489,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R1413:Ppp1r12c
|
UTSW |
7 |
4,487,443 (GRCm39) |
splice site |
probably null |
|
R1522:Ppp1r12c
|
UTSW |
7 |
4,500,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R1835:Ppp1r12c
|
UTSW |
7 |
4,486,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Ppp1r12c
|
UTSW |
7 |
4,485,974 (GRCm39) |
nonsense |
probably null |
|
R2170:Ppp1r12c
|
UTSW |
7 |
4,485,805 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3787:Ppp1r12c
|
UTSW |
7 |
4,489,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R3833:Ppp1r12c
|
UTSW |
7 |
4,485,785 (GRCm39) |
unclassified |
probably benign |
|
R4095:Ppp1r12c
|
UTSW |
7 |
4,486,366 (GRCm39) |
missense |
probably damaging |
0.99 |
R4108:Ppp1r12c
|
UTSW |
7 |
4,489,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5177:Ppp1r12c
|
UTSW |
7 |
4,487,495 (GRCm39) |
nonsense |
probably null |
|
R5319:Ppp1r12c
|
UTSW |
7 |
4,486,983 (GRCm39) |
missense |
probably benign |
0.01 |
R5561:Ppp1r12c
|
UTSW |
7 |
4,489,355 (GRCm39) |
critical splice donor site |
probably null |
|
R5739:Ppp1r12c
|
UTSW |
7 |
4,500,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R5837:Ppp1r12c
|
UTSW |
7 |
4,500,403 (GRCm39) |
intron |
probably benign |
|
R6531:Ppp1r12c
|
UTSW |
7 |
4,485,788 (GRCm39) |
critical splice donor site |
probably null |
|
R7207:Ppp1r12c
|
UTSW |
7 |
4,492,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R7507:Ppp1r12c
|
UTSW |
7 |
4,486,970 (GRCm39) |
missense |
probably benign |
0.01 |
R7920:Ppp1r12c
|
UTSW |
7 |
4,486,354 (GRCm39) |
missense |
probably benign |
0.00 |
R7934:Ppp1r12c
|
UTSW |
7 |
4,488,416 (GRCm39) |
nonsense |
probably null |
|
R8391:Ppp1r12c
|
UTSW |
7 |
4,500,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Ppp1r12c
|
UTSW |
7 |
4,492,768 (GRCm39) |
missense |
probably damaging |
0.98 |
R8793:Ppp1r12c
|
UTSW |
7 |
4,485,887 (GRCm39) |
missense |
probably benign |
|
R8851:Ppp1r12c
|
UTSW |
7 |
4,487,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R8974:Ppp1r12c
|
UTSW |
7 |
4,486,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R9114:Ppp1r12c
|
UTSW |
7 |
4,485,792 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1177:Ppp1r12c
|
UTSW |
7 |
4,487,628 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCAGCTTTTCGATGCTC -3'
(R):5'- ACTCTAACAGACTTGAAGGAAGC -3'
Sequencing Primer
(F):5'- CGCCTCTGCTGGGGAATTG -3'
(R):5'- CTTGAAGGAAGCAGAAAAGGTGGC -3'
|
Posted On |
2015-05-15 |