Incidental Mutation 'IGL03388:Ppp1r12c'
ID420972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r12c
Ensembl Gene ENSMUSG00000019254
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 12C
Synonyms2410197A17Rik, Mbs85
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.291) question?
Stock #IGL03388
Quality Score
Status
Chromosome7
Chromosomal Location4481520-4501680 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 4482070 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000086372] [ENSMUST00000124248] [ENSMUST00000163137] [ENSMUST00000163893] [ENSMUST00000164987] [ENSMUST00000171445]
Predicted Effect probably benign
Transcript: ENSMUST00000013886
SMART Domains Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000124248
SMART Domains Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254

DomainStartEndE-ValueType
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: ENSMUST00000153101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154710
Predicted Effect probably benign
Transcript: ENSMUST00000163137
SMART Domains Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
Pfam:PTB 35 100 1.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163893
SMART Domains Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 15 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168924
Predicted Effect probably benign
Transcript: ENSMUST00000171445
SMART Domains Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,802,770 probably benign Het
B3gnt5 A G 16: 19,770,051 K340R possibly damaging Het
Ccr3 A G 9: 124,028,621 probably benign Het
Cdan1 A G 2: 120,730,511 probably benign Het
Clasp1 T A 1: 118,505,503 D237E possibly damaging Het
Ddx18 T C 1: 121,565,923 K111E possibly damaging Het
Defa21 T C 8: 21,025,748 L54P probably damaging Het
Dennd3 T C 15: 73,544,359 V486A probably damaging Het
Dnah9 T A 11: 65,947,542 D3143V probably damaging Het
Dnm1l A G 16: 16,314,052 probably benign Het
Epb41 T C 4: 131,974,794 Y510C probably damaging Het
Fat4 T C 3: 38,957,227 Y2159H probably damaging Het
Fmo1 A G 1: 162,836,147 V271A probably benign Het
Gm11492 T A 11: 87,568,216 L472* probably null Het
Gm12185 A G 11: 48,908,286 V460A probably benign Het
Hspa8 T C 9: 40,804,928 probably benign Het
Hspb7 A G 4: 141,424,045 E166G probably damaging Het
Il31ra C A 13: 112,546,212 S120I probably damaging Het
Kdm5b A G 1: 134,627,322 T1323A probably benign Het
Lgals9 T A 11: 78,963,421 I346F probably damaging Het
Lgi2 T C 5: 52,538,477 D372G probably damaging Het
Magi3 A C 3: 104,015,841 S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 F203S probably benign Het
Nup210l G A 3: 90,170,044 V896I probably damaging Het
Nxf7 T C X: 135,584,740 K440E probably damaging Het
Olfr1505 T A 19: 13,919,620 V200D probably damaging Het
Olfr776 A T 10: 129,261,443 I161F probably benign Het
Pcdhb6 T C 18: 37,336,137 S20P probably damaging Het
Per2 G T 1: 91,444,789 probably benign Het
Pi15 G A 1: 17,602,777 A67T probably benign Het
Pnp2 A T 14: 50,963,538 N160I probably damaging Het
Rabgap1l A T 1: 160,733,523 probably null Het
Rnf115 G A 3: 96,788,668 V257M probably damaging Het
Rtkn T A 6: 83,150,090 V346D probably benign Het
Rubcn A T 16: 32,841,568 N427K probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sel1l2 A C 2: 140,263,364 probably benign Het
Slc5a5 A G 8: 70,890,328 V196A probably benign Het
Sox13 A T 1: 133,388,948 L207H probably damaging Het
Tmtc2 A G 10: 105,321,483 probably benign Het
Trip12 T C 1: 84,743,186 K1409R probably damaging Het
Ttn C T 2: 76,967,137 A528T probably benign Het
Ubr4 T C 4: 139,415,032 I1310T probably damaging Het
Ypel5 T C 17: 72,846,405 F35L probably damaging Het
Zfp13 G T 17: 23,576,914 R228S probably benign Het
Other mutations in Ppp1r12c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Ppp1r12c APN 7 4497345 splice site probably benign
IGL01419:Ppp1r12c APN 7 4486352 splice site probably null
IGL02126:Ppp1r12c APN 7 4489859 missense probably benign 0.43
PIT4418001:Ppp1r12c UTSW 7 4501267 missense probably null 0.09
R0523:Ppp1r12c UTSW 7 4489772 missense probably damaging 1.00
R0815:Ppp1r12c UTSW 7 4486366 missense probably damaging 1.00
R0863:Ppp1r12c UTSW 7 4486366 missense probably damaging 1.00
R1413:Ppp1r12c UTSW 7 4484444 splice site probably null
R1522:Ppp1r12c UTSW 7 4497425 missense probably damaging 1.00
R1835:Ppp1r12c UTSW 7 4483651 missense probably damaging 1.00
R2004:Ppp1r12c UTSW 7 4482975 nonsense probably null
R2170:Ppp1r12c UTSW 7 4482806 missense possibly damaging 0.76
R3787:Ppp1r12c UTSW 7 4486584 missense probably damaging 1.00
R3833:Ppp1r12c UTSW 7 4482786 unclassified probably benign
R4093:Ppp1r12c UTSW 7 4483367 missense probably damaging 0.99
R4095:Ppp1r12c UTSW 7 4483367 missense probably damaging 0.99
R4108:Ppp1r12c UTSW 7 4486566 missense probably damaging 1.00
R5177:Ppp1r12c UTSW 7 4484496 nonsense probably null
R5319:Ppp1r12c UTSW 7 4483984 missense probably benign 0.01
R5561:Ppp1r12c UTSW 7 4486356 critical splice donor site probably null
R5739:Ppp1r12c UTSW 7 4497282 missense probably damaging 1.00
R5837:Ppp1r12c UTSW 7 4497404 intron probably benign
R6531:Ppp1r12c UTSW 7 4482789 critical splice donor site probably null
R7207:Ppp1r12c UTSW 7 4489868 missense probably damaging 1.00
R7507:Ppp1r12c UTSW 7 4483971 missense probably benign 0.01
Z1177:Ppp1r12c UTSW 7 4484629 missense probably benign 0.28
Posted On2016-08-02