Incidental Mutation 'R2170:Ppp1r12c'
| ID |
237426 |
| Institutional Source |
Beutler Lab
|
| 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: 0.139)
|
| Stock # |
R2170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4484519-4504679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4485805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 680
(D680E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013886]
[ENSMUST00000086372]
[ENSMUST00000124248]
[ENSMUST00000163893]
[ENSMUST00000171445]
[ENSMUST00000164987]
[ENSMUST00000163137]
|
| AlphaFold |
Q3UMT1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000013886
AA Change: D680E
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: D680E
| 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: D602E
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: D602E
| 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: ENSMUST00000154710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153101
|
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,896 (GRCm39) |
S404P |
probably damaging |
Het |
| 4933434E20Rik |
T |
A |
3: 89,963,611 (GRCm39) |
L89Q |
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,102,411 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,793,680 (GRCm39) |
F89S |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,095,168 (GRCm39) |
S1977T |
probably benign |
Het |
| Ccr1l1 |
C |
A |
9: 123,778,172 (GRCm39) |
V92F |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,509,323 (GRCm39) |
N86S |
probably damaging |
Het |
| Copg2 |
CCTCATC |
CC |
6: 30,789,757 (GRCm39) |
|
probably null |
Het |
| Elapor2 |
A |
G |
5: 9,529,206 (GRCm39) |
D221G |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,921,984 (GRCm39) |
S21P |
probably benign |
Het |
| Glb1 |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
9: 114,302,873 (GRCm39) |
|
probably benign |
Het |
| Gngt2 |
A |
G |
11: 95,728,071 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,956 (GRCm39) |
E135V |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,270,293 (GRCm39) |
A1177T |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,557,773 (GRCm39) |
V272A |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,015,682 (GRCm39) |
I418M |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,918,075 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
T |
1: 153,124,888 (GRCm39) |
A628T |
probably benign |
Het |
| Mag |
A |
T |
7: 30,608,412 (GRCm39) |
L234* |
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,366,084 (GRCm39) |
V2080E |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,871,724 (GRCm39) |
D2119G |
probably benign |
Het |
| Ncam1 |
C |
T |
9: 49,709,981 (GRCm39) |
A17T |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,322,702 (GRCm39) |
Y2570H |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,044,861 (GRCm39) |
V129A |
probably damaging |
Het |
| Or14a257 |
T |
A |
7: 86,137,778 (GRCm39) |
H327L |
probably benign |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Podn |
A |
T |
4: 107,879,730 (GRCm39) |
L85Q |
probably damaging |
Het |
| Prdm14 |
G |
A |
1: 13,192,684 (GRCm39) |
L352F |
probably damaging |
Het |
| Prob1 |
G |
T |
18: 35,787,790 (GRCm39) |
Q155K |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,069,215 (GRCm39) |
L737S |
possibly damaging |
Het |
| Stard5 |
A |
G |
7: 83,282,366 (GRCm39) |
T60A |
probably benign |
Het |
| Syt7 |
A |
G |
19: 10,416,744 (GRCm39) |
K402E |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,171,714 (GRCm39) |
D69V |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,957 (GRCm39) |
F258S |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,284,812 (GRCm39) |
Y19N |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACTTATACCTGCGTGGC -3'
(R):5'- CAGGTAGACTGGGTCATGTG -3'
Sequencing Primer
(F):5'- ACCTTGAGCTGTGCCAGAC -3'
(R):5'- GTGGAGGCTGGGACACATTTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation