Incidental Mutation 'IGL03388:Ppp1r12c'
ID |
420972 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp1r12c
|
Ensembl Gene |
ENSMUSG00000019254 |
Gene Name |
protein phosphatase 1, regulatory subunit 12C |
Synonyms |
Mbs85, 2410197A17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
IGL03388
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
4484519-4504679 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 4485069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013886]
[ENSMUST00000086372]
[ENSMUST00000124248]
[ENSMUST00000163893]
[ENSMUST00000164987]
[ENSMUST00000163137]
[ENSMUST00000171445]
|
AlphaFold |
Q3UMT1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000013886
|
SMART Domains |
Protein: ENSMUSP00000013886 Gene: ENSMUSG00000019254
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 |
probably benign
Transcript: ENSMUST00000124248
|
SMART Domains |
Protein: ENSMUSP00000120029 Gene: ENSMUSG00000019254
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: ENSMUST00000147679
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154710
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153101
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168924
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136863
|
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: 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: 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
C |
11: 117,693,596 (GRCm39) |
|
probably benign |
Het |
B3gnt5 |
A |
G |
16: 19,588,801 (GRCm39) |
K340R |
possibly damaging |
Het |
Ccr3 |
A |
G |
9: 123,828,658 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,560,992 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
T |
A |
1: 118,433,233 (GRCm39) |
D237E |
possibly damaging |
Het |
Ddx18 |
T |
C |
1: 121,493,652 (GRCm39) |
K111E |
possibly damaging |
Het |
Defa21 |
T |
C |
8: 21,515,764 (GRCm39) |
L54P |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,416,208 (GRCm39) |
V486A |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,838,368 (GRCm39) |
D3143V |
probably damaging |
Het |
Dnm1l |
A |
G |
16: 16,131,916 (GRCm39) |
|
probably benign |
Het |
Epb41 |
T |
C |
4: 131,702,105 (GRCm39) |
Y510C |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
Fmo1 |
A |
G |
1: 162,663,716 (GRCm39) |
V271A |
probably benign |
Het |
Gm12185 |
A |
G |
11: 48,799,113 (GRCm39) |
V460A |
probably benign |
Het |
Hspa8 |
T |
C |
9: 40,716,224 (GRCm39) |
|
probably benign |
Het |
Hspb7 |
A |
G |
4: 141,151,356 (GRCm39) |
E166G |
probably damaging |
Het |
Il31ra |
C |
A |
13: 112,682,746 (GRCm39) |
S120I |
probably damaging |
Het |
Kdm5b |
A |
G |
1: 134,555,060 (GRCm39) |
T1323A |
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,854,247 (GRCm39) |
I346F |
probably damaging |
Het |
Lgi2 |
T |
C |
5: 52,695,819 (GRCm39) |
D372G |
probably damaging |
Het |
Magi3 |
A |
C |
3: 103,923,157 (GRCm39) |
S1187A |
probably benign |
Het |
Nr1d2 |
A |
G |
14: 18,215,403 (GRCm38) |
F203S |
probably benign |
Het |
Nup210l |
G |
A |
3: 90,077,351 (GRCm39) |
V896I |
probably damaging |
Het |
Nxf7 |
T |
C |
X: 134,485,489 (GRCm39) |
K440E |
probably damaging |
Het |
Or6c206 |
A |
T |
10: 129,097,312 (GRCm39) |
I161F |
probably benign |
Het |
Or9i1b |
T |
A |
19: 13,896,984 (GRCm39) |
V200D |
probably damaging |
Het |
Pcdhb6 |
T |
C |
18: 37,469,190 (GRCm39) |
S20P |
probably damaging |
Het |
Per2 |
G |
T |
1: 91,372,511 (GRCm39) |
|
probably benign |
Het |
Pi15 |
G |
A |
1: 17,673,001 (GRCm39) |
A67T |
probably benign |
Het |
Pnp2 |
A |
T |
14: 51,200,995 (GRCm39) |
N160I |
probably damaging |
Het |
Rabgap1l |
A |
T |
1: 160,561,093 (GRCm39) |
|
probably null |
Het |
Rnf115 |
G |
A |
3: 96,695,984 (GRCm39) |
V257M |
probably damaging |
Het |
Rtkn |
T |
A |
6: 83,127,071 (GRCm39) |
V346D |
probably benign |
Het |
Rubcn |
A |
T |
16: 32,661,938 (GRCm39) |
N427K |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Sel1l2 |
A |
C |
2: 140,105,284 (GRCm39) |
|
probably benign |
Het |
Septin4 |
T |
A |
11: 87,459,042 (GRCm39) |
L472* |
probably null |
Het |
Slc5a5 |
A |
G |
8: 71,342,972 (GRCm39) |
V196A |
probably benign |
Het |
Sox13 |
A |
T |
1: 133,316,686 (GRCm39) |
L207H |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,157,344 (GRCm39) |
|
probably benign |
Het |
Trip12 |
T |
C |
1: 84,720,907 (GRCm39) |
K1409R |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,797,481 (GRCm39) |
A528T |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,142,343 (GRCm39) |
I1310T |
probably damaging |
Het |
Ypel5 |
T |
C |
17: 73,153,400 (GRCm39) |
F35L |
probably damaging |
Het |
Zfp13 |
G |
T |
17: 23,795,888 (GRCm39) |
R228S |
probably benign |
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 |
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 |
|
R4093:Ppp1r12c
|
UTSW |
7 |
4,486,366 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2016-08-02 |