Incidental Mutation 'R2233:Ppp1r12a'
ID 240195
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 040234-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2233 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 107997913-108115846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108034780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 108 (I108M)
Ref Sequence ENSEMBL: ENSMUSP00000151842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070663] [ENSMUST00000219263]
AlphaFold Q9DBR7
Predicted Effect possibly damaging
Transcript: ENSMUST00000070663
AA Change: I108M

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069257
Gene: ENSMUSG00000019907
AA Change: I108M

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 possibly damaging
Transcript: ENSMUST00000219263
AA Change: I108M

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,584,671 (GRCm39) I360V probably benign Het
Adarb1 A G 10: 77,153,183 (GRCm39) V322A probably damaging Het
Atad2b T G 12: 5,056,745 (GRCm39) F867C probably damaging Het
Ccdc24 T C 4: 117,727,113 (GRCm39) K79R possibly damaging Het
Cfap44 A G 16: 44,271,888 (GRCm39) I1214V probably benign Het
Chrm4 A G 2: 91,758,875 (GRCm39) S428G probably benign Het
Chrnb1 A T 11: 69,686,428 (GRCm39) I64N probably damaging Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Dazap1 A G 10: 80,113,433 (GRCm39) K110E possibly damaging Het
Dhx16 T C 17: 36,198,778 (GRCm39) C737R probably damaging Het
Dst A G 1: 34,313,343 (GRCm39) E6384G probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
E2f4 T A 8: 106,025,283 (GRCm39) V121E probably damaging Het
Enah G A 1: 181,749,537 (GRCm39) P415L probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fezf1 T C 6: 23,246,002 (GRCm39) T388A probably damaging Het
Gimap6 T A 6: 48,681,418 (GRCm39) H72L possibly damaging Het
Gm11149 A G 9: 49,473,446 (GRCm39) probably benign Het
Gm12695 C T 4: 96,612,266 (GRCm39) R499Q probably damaging Het
Grhl1 A G 12: 24,658,510 (GRCm39) D385G probably damaging Het
Hyou1 C T 9: 44,300,388 (GRCm39) T855M probably benign Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Kcnab1 T A 3: 65,226,888 (GRCm39) V189D probably damaging Het
Kifap3 T A 1: 163,683,634 (GRCm39) D438E probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc41 G A 4: 115,953,582 (GRCm39) R756Q possibly damaging Het
Lrrc49 A T 9: 60,505,440 (GRCm39) F538L possibly damaging Het
Nphp3 G A 9: 103,914,575 (GRCm39) R1052H probably benign Het
Nynrin G A 14: 56,109,524 (GRCm39) V1544I possibly damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Or9m1 G A 2: 87,733,819 (GRCm39) S67F probably damaging Het
Osbpl6 T C 2: 76,417,113 (GRCm39) F577L probably damaging Het
Otc A G X: 10,169,606 (GRCm39) Q216R probably benign Het
Prl7a1 C A 13: 27,826,402 (GRCm39) probably null Het
Prss16 T C 13: 22,193,579 (GRCm39) D72G possibly damaging Het
Qrsl1 T C 10: 43,772,092 (GRCm39) K33E probably benign Het
Rabepk A T 2: 34,685,246 (GRCm39) I58N possibly damaging Het
Ralgapa1 A T 12: 55,763,856 (GRCm39) H1403Q probably benign Het
Rhobtb3 C A 13: 76,020,484 (GRCm39) C606F possibly damaging Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scap T C 9: 110,210,661 (GRCm39) C998R probably damaging Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sel1l2 T C 2: 140,086,085 (GRCm39) Y502C probably damaging Het
Sf3a2 G T 10: 80,638,663 (GRCm39) A95S probably benign Het
Sis A T 3: 72,820,527 (GRCm39) F1412L probably benign Het
Slc25a29 A T 12: 108,801,587 (GRCm39) C9S possibly damaging Het
Snap91 T C 9: 86,680,624 (GRCm39) T427A probably benign Het
St3gal6 A G 16: 58,293,897 (GRCm39) F211L probably damaging Het
Stab1 G A 14: 30,883,837 (GRCm39) S240F probably benign Het
Sun3 T A 11: 8,973,371 (GRCm39) K109* probably null Het
Syne1 T C 10: 4,991,484 (GRCm39) N8410S probably benign Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Tmem135 T C 7: 88,803,282 (GRCm39) N297S probably damaging Het
Tnk1 C T 11: 69,746,017 (GRCm39) probably null Het
Txnl4b A G 8: 110,295,551 (GRCm39) probably benign Het
Uck1 T C 2: 32,148,315 (GRCm39) D167G probably damaging Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Xylt2 C T 11: 94,560,822 (GRCm39) V239M possibly damaging Het
Zmpste24 T C 4: 120,955,162 (GRCm39) D12G probably benign Het
Zscan25 A G 5: 145,220,502 (GRCm39) Y99C 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTGATGGCTGCACAATCATG -3'
(R):5'- GTGAGCAATTCAGTATCTGTGTAAG -3'

Sequencing Primer
(F):5'- CACAATCATGATTGCTACAG -3'
(R):5'- TGGAACTCCCTCTGTAGACCAG -3'
Posted On 2014-10-15