Incidental Mutation 'IGL03388:Ppp1r12c'
ID 420972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r12c
Ensembl Gene ENSMUSG00000019254
Gene Name protein phosphatase 1, regulatory subunit 12C
Synonyms Mbs85, 2410197A17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL03388
Quality Score
Status
Chromosome 7
Chromosomal Location 4484519-4504679 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 4485069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000086372] [ENSMUST00000124248] [ENSMUST00000163893] [ENSMUST00000164987] [ENSMUST00000163137] [ENSMUST00000171445]
AlphaFold Q3UMT1
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: ENSMUST00000147679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136863
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 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: 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: 117,693,596 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,801 (GRCm39) K340R possibly damaging Het
Ccr3 A G 9: 123,828,658 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,992 (GRCm39) probably benign Het
Clasp1 T A 1: 118,433,233 (GRCm39) D237E possibly damaging Het
Ddx18 T C 1: 121,493,652 (GRCm39) K111E possibly damaging Het
Defa21 T C 8: 21,515,764 (GRCm39) L54P probably damaging Het
Dennd3 T C 15: 73,416,208 (GRCm39) V486A probably damaging Het
Dnah9 T A 11: 65,838,368 (GRCm39) D3143V probably damaging Het
Dnm1l A G 16: 16,131,916 (GRCm39) probably benign Het
Epb41 T C 4: 131,702,105 (GRCm39) Y510C probably damaging Het
Fat4 T C 3: 39,011,376 (GRCm39) Y2159H probably damaging Het
Fmo1 A G 1: 162,663,716 (GRCm39) V271A probably benign Het
Gm12185 A G 11: 48,799,113 (GRCm39) V460A probably benign Het
Hspa8 T C 9: 40,716,224 (GRCm39) probably benign Het
Hspb7 A G 4: 141,151,356 (GRCm39) E166G probably damaging Het
Il31ra C A 13: 112,682,746 (GRCm39) S120I probably damaging Het
Kdm5b A G 1: 134,555,060 (GRCm39) T1323A probably benign Het
Lgals9 T A 11: 78,854,247 (GRCm39) I346F probably damaging Het
Lgi2 T C 5: 52,695,819 (GRCm39) D372G probably damaging Het
Magi3 A C 3: 103,923,157 (GRCm39) S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 (GRCm38) F203S probably benign Het
Nup210l G A 3: 90,077,351 (GRCm39) V896I probably damaging Het
Nxf7 T C X: 134,485,489 (GRCm39) K440E probably damaging Het
Or6c206 A T 10: 129,097,312 (GRCm39) I161F probably benign Het
Or9i1b T A 19: 13,896,984 (GRCm39) V200D probably damaging Het
Pcdhb6 T C 18: 37,469,190 (GRCm39) S20P probably damaging Het
Per2 G T 1: 91,372,511 (GRCm39) probably benign Het
Pi15 G A 1: 17,673,001 (GRCm39) A67T probably benign Het
Pnp2 A T 14: 51,200,995 (GRCm39) N160I probably damaging Het
Rabgap1l A T 1: 160,561,093 (GRCm39) probably null Het
Rnf115 G A 3: 96,695,984 (GRCm39) V257M probably damaging Het
Rtkn T A 6: 83,127,071 (GRCm39) V346D probably benign Het
Rubcn A T 16: 32,661,938 (GRCm39) N427K probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sel1l2 A C 2: 140,105,284 (GRCm39) probably benign Het
Septin4 T A 11: 87,459,042 (GRCm39) L472* probably null Het
Slc5a5 A G 8: 71,342,972 (GRCm39) V196A probably benign Het
Sox13 A T 1: 133,316,686 (GRCm39) L207H probably damaging Het
Tmtc2 A G 10: 105,157,344 (GRCm39) probably benign Het
Trip12 T C 1: 84,720,907 (GRCm39) K1409R probably damaging Het
Ttn C T 2: 76,797,481 (GRCm39) A528T probably benign Het
Ubr4 T C 4: 139,142,343 (GRCm39) I1310T probably damaging Het
Ypel5 T C 17: 73,153,400 (GRCm39) F35L probably damaging Het
Zfp13 G T 17: 23,795,888 (GRCm39) R228S probably benign Het
Other mutations in Ppp1r12c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4095: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
Posted On 2016-08-02