Incidental Mutation 'IGL00819:Ppp1r12a'
ID 13126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r12a
Ensembl Gene ENSMUSG00000019907
Gene Name protein phosphatase 1, regulatory subunit 12A
Synonyms 1200015F06Rik, D10Ertd625e, 5730577I22Rik, Mypt1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00819
Quality Score
Status
Chromosome 10
Chromosomal Location 107997913-108115846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108076682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 304 (S304P)
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: S304P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069257
Gene: ENSMUSG00000019907
AA Change: S304P

DomainStartEndE-ValueType
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: S304P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,590,350 (GRCm39) probably null Het
Apaf1 G T 10: 90,833,202 (GRCm39) probably null Het
Ash1l T A 3: 88,915,043 (GRCm39) V1891E possibly damaging Het
Atm A G 9: 53,429,831 (GRCm39) S402P probably damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Ccdc150 T A 1: 54,302,732 (GRCm39) N117K probably damaging Het
Ccl7 A G 11: 81,937,401 (GRCm39) N45S probably benign Het
Dnah2 A T 11: 69,364,176 (GRCm39) probably null Het
Efcab6 A G 15: 83,902,843 (GRCm39) I169T probably benign Het
Exo1 T C 1: 175,723,803 (GRCm39) V383A probably benign Het
Fbxl2 A G 9: 113,813,047 (GRCm39) probably benign Het
Fryl A T 5: 73,305,451 (GRCm39) V106D possibly damaging Het
Fsip1 C A 2: 118,080,393 (GRCm39) R121L possibly damaging Het
Igsf9 T C 1: 172,324,203 (GRCm39) S789P probably benign Het
Klf7 T C 1: 64,081,476 (GRCm39) D284G possibly damaging Het
Mbtd1 A G 11: 93,822,637 (GRCm39) probably null Het
Mef2c A T 13: 83,773,499 (GRCm39) D125V probably damaging Het
Nectin4 T C 1: 171,212,254 (GRCm39) L284S probably damaging Het
Numa1 G T 7: 101,641,917 (GRCm39) G122W possibly damaging Het
Pcbd1 A C 10: 60,927,919 (GRCm39) E27A probably benign Het
Pclo A G 5: 14,908,860 (GRCm39) N5056S unknown Het
Pelp1 G A 11: 70,285,444 (GRCm39) P808L unknown Het
Ppp1r7 T A 1: 93,273,978 (GRCm39) D51E probably benign Het
Rassf6 T C 5: 90,751,930 (GRCm39) K308E probably benign Het
Rel A T 11: 23,693,029 (GRCm39) F335I probably benign Het
Scnn1g A G 7: 121,339,660 (GRCm39) E153G probably benign Het
Slc2a5 T C 4: 150,210,113 (GRCm39) Y33H probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Tpra1 T A 6: 88,886,318 (GRCm39) Y65* probably null Het
Trip12 C T 1: 84,731,993 (GRCm39) G994S probably damaging Het
Trnt1 T A 6: 106,753,183 (GRCm39) Y195* probably null Het
Ttn A G 2: 76,573,394 (GRCm39) I17506T probably damaging Het
Ubr4 C T 4: 139,203,593 (GRCm39) T4761I possibly damaging Het
Vmn1r204 T A 13: 22,741,117 (GRCm39) Y249* probably null Het
Zfp212 C T 6: 47,908,256 (GRCm39) P412S probably damaging Het
Zhx1 A G 15: 57,918,090 (GRCm39) V52A probably benign Het
Zpbp2 A T 11: 98,448,418 (GRCm39) H245L probably damaging Het
Other mutations in Ppp1r12a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6744:Ppp1r12a UTSW 10 108,066,395 (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
Posted On 2012-12-06