Incidental Mutation 'R6744:Ppp1r12a'
| ID |
532795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r12a
|
| Ensembl Gene |
ENSMUSG00000019907 |
| Gene Name |
protein phosphatase 1, regulatory subunit 12A |
| Synonyms |
1200015F06Rik, D10Ertd625e, 5730577I22Rik, Mypt1 |
| MMRRC Submission |
044861-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
107997913-108115846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108066395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 195
(H195Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070663]
[ENSMUST00000219263]
|
| AlphaFold |
Q9DBR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070663
AA Change: H195Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069257
Gene: ENSMUSG00000019907
AA Change: H195Q
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
38 |
68 |
1.01e2 |
SMART |
|
ANK
|
72 |
101 |
1.66e-6 |
SMART |
|
ANK
|
105 |
134 |
6.36e-3 |
SMART |
|
ANK
|
138 |
168 |
5.52e2 |
SMART |
|
ANK
|
198 |
227 |
6.12e-5 |
SMART |
|
ANK
|
231 |
260 |
5.16e-3 |
SMART |
|
coiled coil region
|
333 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
656 |
N/A |
INTRINSIC |
|
PDB:2KJY|A
|
657 |
712 |
5e-12 |
PDB |
|
low complexity region
|
719 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
851 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
902 |
N/A |
INTRINSIC |
|
Pfam:PRKG1_interact
|
930 |
993 |
4.5e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219263
AA Change: H195Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1205 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous null mice die before E7.5. Mice homozygous for a floxed allele activated in smooth muscle exhibit altered intestinal smooth muscle contractility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,841,466 (GRCm39) |
L251H |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,910,077 (GRCm39) |
S210T |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,906,281 (GRCm39) |
F246S |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,024,858 (GRCm39) |
N1749K |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,046 (GRCm39) |
S207T |
probably damaging |
Het |
| C8b |
C |
T |
4: 104,631,543 (GRCm39) |
R53W |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,244 (GRCm39) |
V619A |
probably benign |
Het |
| Cdc73 |
G |
A |
1: 143,577,887 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
A |
2: 179,489,180 (GRCm39) |
H297Q |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,816,207 (GRCm39) |
N1328S |
probably damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,782,025 (GRCm39) |
V346E |
probably damaging |
Het |
| Ctns |
C |
T |
11: 73,076,111 (GRCm39) |
G308E |
probably damaging |
Het |
| Cxxc4 |
AGGCGGCGGCGGCGGCGGCGGCGGC |
AGGCGGCGGCGGCGGCGGCGGCGGCGGC |
3: 133,945,891 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,014,532 (GRCm39) |
I3685T |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,742,770 (GRCm39) |
H775R |
probably damaging |
Het |
| Eef1ece2 |
A |
T |
16: 20,449,116 (GRCm39) |
K165N |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,730 (GRCm39) |
V239D |
probably damaging |
Het |
| Gh |
T |
A |
11: 106,192,230 (GRCm39) |
K55* |
probably null |
Het |
| Havcr2 |
T |
G |
11: 46,345,887 (GRCm39) |
|
probably null |
Het |
| Kcnq2 |
T |
A |
2: 180,727,099 (GRCm39) |
H576L |
possibly damaging |
Het |
| Kifap3 |
A |
G |
1: 163,676,239 (GRCm39) |
N398S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mblac1 |
A |
G |
5: 138,192,682 (GRCm39) |
E8G |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,543,112 (GRCm39) |
T290I |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,295,938 (GRCm39) |
Y400H |
probably damaging |
Het |
| Nek9 |
A |
G |
12: 85,376,703 (GRCm39) |
V226A |
probably benign |
Het |
| Or10a3 |
T |
C |
7: 108,480,037 (GRCm39) |
T259A |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,336 (GRCm39) |
Y258* |
probably null |
Het |
| Or2d4 |
A |
G |
7: 106,543,741 (GRCm39) |
S156P |
probably damaging |
Het |
| Otud4 |
C |
A |
8: 80,400,407 (GRCm39) |
Y1039* |
probably null |
Het |
| Pax4 |
T |
C |
6: 28,442,396 (GRCm39) |
H331R |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,165,960 (GRCm39) |
Y2090* |
probably null |
Het |
| Ppp6r2 |
A |
G |
15: 89,140,864 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
G |
16: 17,897,064 (GRCm39) |
V23A |
probably benign |
Het |
| Psg20 |
G |
A |
7: 18,408,505 (GRCm39) |
T405I |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,093,562 (GRCm39) |
D360G |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,324 (GRCm39) |
M164K |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,652,745 (GRCm39) |
M284K |
probably damaging |
Het |
| Rgs17 |
T |
C |
10: 5,792,567 (GRCm39) |
K60E |
possibly damaging |
Het |
| Sec31a |
G |
T |
5: 100,540,358 (GRCm39) |
Q39K |
possibly damaging |
Het |
| Slc22a22 |
G |
T |
15: 57,117,668 (GRCm39) |
T291K |
possibly damaging |
Het |
| Sult2a6 |
C |
T |
7: 13,956,470 (GRCm39) |
E264K |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,121,221 (GRCm39) |
R5896C |
probably damaging |
Het |
| Tctn1 |
A |
T |
5: 122,402,209 (GRCm39) |
V75D |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,031,372 (GRCm39) |
K409E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,853,301 (GRCm39) |
Y553C |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in Ppp1r12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Ppp1r12a
|
APN |
10 |
108,034,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00727:Ppp1r12a
|
APN |
10 |
108,066,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00819:Ppp1r12a
|
APN |
10 |
108,076,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01538:Ppp1r12a
|
APN |
10 |
108,069,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02227:Ppp1r12a
|
APN |
10 |
108,105,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:Ppp1r12a
|
APN |
10 |
108,034,779 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03063:Ppp1r12a
|
APN |
10 |
108,097,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03260:Ppp1r12a
|
APN |
10 |
108,097,106 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0049:Ppp1r12a
|
UTSW |
10 |
108,089,193 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0268:Ppp1r12a
|
UTSW |
10 |
108,109,242 (GRCm39) |
intron |
probably benign |
|
|
R0826:Ppp1r12a
|
UTSW |
10 |
108,066,414 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0839:Ppp1r12a
|
UTSW |
10 |
108,034,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1026:Ppp1r12a
|
UTSW |
10 |
108,087,720 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1053:Ppp1r12a
|
UTSW |
10 |
108,098,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1376:Ppp1r12a
|
UTSW |
10 |
108,034,779 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1376:Ppp1r12a
|
UTSW |
10 |
108,034,779 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1511:Ppp1r12a
|
UTSW |
10 |
108,087,720 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1616:Ppp1r12a
|
UTSW |
10 |
108,096,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Ppp1r12a
|
UTSW |
10 |
108,085,426 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1866:Ppp1r12a
|
UTSW |
10 |
108,098,292 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1901:Ppp1r12a
|
UTSW |
10 |
108,034,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Ppp1r12a
|
UTSW |
10 |
108,034,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2233:Ppp1r12a
|
UTSW |
10 |
108,034,780 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2234:Ppp1r12a
|
UTSW |
10 |
108,034,780 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3760:Ppp1r12a
|
UTSW |
10 |
108,100,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3856:Ppp1r12a
|
UTSW |
10 |
108,089,362 (GRCm39) |
intron |
probably benign |
|
|
R3973:Ppp1r12a
|
UTSW |
10 |
108,089,341 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3974:Ppp1r12a
|
UTSW |
10 |
108,089,341 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3976:Ppp1r12a
|
UTSW |
10 |
108,089,341 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4502:Ppp1r12a
|
UTSW |
10 |
108,085,339 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4902:Ppp1r12a
|
UTSW |
10 |
108,066,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Ppp1r12a
|
UTSW |
10 |
108,103,263 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5224:Ppp1r12a
|
UTSW |
10 |
108,096,886 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5353:Ppp1r12a
|
UTSW |
10 |
108,097,077 (GRCm39) |
splice site |
probably null |
|
|
R5428:Ppp1r12a
|
UTSW |
10 |
108,089,208 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5472:Ppp1r12a
|
UTSW |
10 |
108,075,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Ppp1r12a
|
UTSW |
10 |
108,085,488 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6217:Ppp1r12a
|
UTSW |
10 |
108,076,045 (GRCm39) |
splice site |
probably null |
|
|
R6274:Ppp1r12a
|
UTSW |
10 |
108,096,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6431:Ppp1r12a
|
UTSW |
10 |
108,098,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Ppp1r12a
|
UTSW |
10 |
108,097,137 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6865:Ppp1r12a
|
UTSW |
10 |
108,098,242 (GRCm39) |
nonsense |
probably null |
|
|
R6993:Ppp1r12a
|
UTSW |
10 |
108,076,698 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7565:Ppp1r12a
|
UTSW |
10 |
108,104,501 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8153:Ppp1r12a
|
UTSW |
10 |
107,998,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8174:Ppp1r12a
|
UTSW |
10 |
108,107,598 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8407:Ppp1r12a
|
UTSW |
10 |
108,076,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8422:Ppp1r12a
|
UTSW |
10 |
108,077,042 (GRCm39) |
missense |
probably benign |
|
|
R8716:Ppp1r12a
|
UTSW |
10 |
108,096,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Ppp1r12a
|
UTSW |
10 |
108,098,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Ppp1r12a
|
UTSW |
10 |
108,087,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Ppp1r12a
|
UTSW |
10 |
108,098,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Ppp1r12a
|
UTSW |
10 |
108,100,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Ppp1r12a
|
UTSW |
10 |
108,096,747 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
X0027:Ppp1r12a
|
UTSW |
10 |
108,050,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACTGTGTAGAACTGGGAAG -3'
(R):5'- GGTTTGTTGACACTTAAGTCCAG -3'
Sequencing Primer
(F):5'- GTGTAGAACTGGGAAGAAGAATATTC -3'
(R):5'- GTTGACACTTAAGTCCAGATTATGAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation