Incidental Mutation 'R4095:Ppp1r12c'
| ID |
317848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r12c
|
| Ensembl Gene |
ENSMUSG00000019254 |
| Gene Name |
protein phosphatase 1, regulatory subunit 12C |
| Synonyms |
Mbs85, 2410197A17Rik |
| MMRRC Submission |
040858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R4095 (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: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (59/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
T |
12: 53,186,245 (GRCm39) |
I1220L |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Apba1 |
A |
T |
19: 23,921,388 (GRCm39) |
Q737L |
probably benign |
Het |
| Arvcf |
T |
A |
16: 18,220,327 (GRCm39) |
D564E |
probably damaging |
Het |
| Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
| Brd9 |
G |
A |
13: 74,092,918 (GRCm39) |
V302I |
probably benign |
Het |
| Brinp3 |
C |
A |
1: 146,777,430 (GRCm39) |
H626N |
possibly damaging |
Het |
| C1qc |
T |
C |
4: 136,617,637 (GRCm39) |
N153S |
probably benign |
Het |
| Casp3 |
G |
A |
8: 47,087,251 (GRCm39) |
G66D |
probably damaging |
Het |
| Coq7 |
T |
G |
7: 118,126,701 (GRCm39) |
|
probably null |
Het |
| Dach1 |
C |
T |
14: 98,138,815 (GRCm39) |
V491M |
possibly damaging |
Het |
| Dda1 |
A |
G |
8: 71,926,436 (GRCm39) |
T52A |
possibly damaging |
Het |
| Entpd7 |
A |
G |
19: 43,692,640 (GRCm39) |
Y65C |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,991,535 (GRCm39) |
D350G |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
| Gbp2 |
A |
G |
3: 142,343,210 (GRCm39) |
T576A |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,590 (GRCm39) |
|
probably null |
Het |
| Gtf2a1 |
G |
T |
12: 91,542,411 (GRCm39) |
T57K |
possibly damaging |
Het |
| Hps5 |
T |
C |
7: 46,425,218 (GRCm39) |
E494G |
probably benign |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,268,179 (GRCm39) |
N2886S |
probably damaging |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,773 (GRCm39) |
Y112C |
probably damaging |
Het |
| Kcnf1 |
A |
T |
12: 17,225,480 (GRCm39) |
L247Q |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,516,938 (GRCm39) |
M1606V |
possibly damaging |
Het |
| Krt27 |
T |
C |
11: 99,236,619 (GRCm39) |
T431A |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,973,118 (GRCm39) |
I1562F |
probably damaging |
Het |
| Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,339,203 (GRCm39) |
T880I |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
| Mapt |
T |
C |
11: 104,201,362 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
T |
4: 81,302,060 (GRCm39) |
V229D |
possibly damaging |
Het |
| Or10am5 |
T |
A |
7: 6,518,252 (GRCm39) |
S59C |
possibly damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,188 (GRCm39) |
T55A |
probably benign |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,039 (GRCm39) |
S136P |
probably benign |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,003 (GRCm39) |
S331R |
probably benign |
Het |
| Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
| Rell1 |
C |
A |
5: 64,126,013 (GRCm39) |
V22L |
probably benign |
Het |
| Sema6c |
T |
A |
3: 95,080,505 (GRCm39) |
L901Q |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc22a23 |
A |
G |
13: 34,489,189 (GRCm39) |
L116P |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,596,925 (GRCm39) |
|
probably benign |
Het |
| Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,134,749 (GRCm39) |
Y427* |
probably null |
Het |
| Tmem74 |
G |
A |
15: 43,730,678 (GRCm39) |
Q122* |
probably null |
Het |
| Tnpo2 |
T |
A |
8: 85,765,048 (GRCm39) |
L10Q |
probably damaging |
Het |
| Trav6-2 |
G |
T |
14: 52,905,272 (GRCm39) |
A98S |
probably benign |
Het |
| Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
| Ube2b |
A |
C |
11: 51,888,654 (GRCm39) |
V39G |
possibly damaging |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,925,087 (GRCm39) |
T1459I |
probably damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,963,099 (GRCm39) |
K754R |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,275,602 (GRCm39) |
K240R |
probably damaging |
Het |
| Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
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 |
|
|
R4093: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 |
Incidental Mutation