Incidental Mutation 'R0863:Ppp1r12c'
ID 82186
Institutional Source Beutler Lab
Gene Symbol Ppp1r12c
Ensembl Gene ENSMUSG00000019254
Gene Name protein phosphatase 1, regulatory subunit 12C
Synonyms Mbs85, 2410197A17Rik
MMRRC Submission 039037-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R0863 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4484519-4504679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4489365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 240 (Q240K)
Ref Sequence ENSEMBL: ENSMUSP00000120029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000124248] [ENSMUST00000125220]
AlphaFold Q3UMT1
Predicted Effect probably damaging
Transcript: ENSMUST00000013886
AA Change: Q319K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: Q319K

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 damaging
Transcript: ENSMUST00000124248
AA Change: Q240K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: Q240K

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 probably benign
Transcript: ENSMUST00000125220
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: ENSMUST00000136863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153101
Meta Mutation Damage Score 0.1910 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 94% (59/63)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,327,232 (GRCm39) noncoding transcript Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca14 A T 7: 119,815,453 (GRCm39) T234S probably benign Het
Acap1 C A 11: 69,777,882 (GRCm39) V119L probably damaging Het
Actr2 C T 11: 20,030,760 (GRCm39) V163I probably benign Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Arnt2 T A 7: 83,914,792 (GRCm39) K524M probably damaging Het
Brca1 T C 11: 101,415,596 (GRCm39) Y846C probably benign Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Cep350 T A 1: 155,737,981 (GRCm39) I2621L probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fank1 A G 7: 133,482,352 (GRCm39) R73G possibly damaging Het
Fes A T 7: 80,030,634 (GRCm39) W552R probably damaging Het
Fsd2 A G 7: 81,191,913 (GRCm39) V488A possibly damaging Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gm9493 A T 19: 23,597,173 (GRCm39) Q23L probably benign Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Lonp1 T C 17: 56,925,331 (GRCm39) K487R probably damaging Het
Ltbp1 A G 17: 75,559,381 (GRCm39) Y290C probably damaging Het
Ms4a10 C T 19: 10,945,957 (GRCm39) G58D probably damaging Het
Muc5b A G 7: 141,421,454 (GRCm39) S4315G probably benign Het
Nlrp1b T A 11: 71,072,173 (GRCm39) T557S probably benign Het
Nlrp3 A G 11: 59,456,676 (GRCm39) D946G probably benign Het
Obscn T C 11: 58,886,241 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or10ab5 A G 7: 108,244,865 (GRCm39) I306T probably benign Het
Or5p50 T C 7: 107,422,581 (GRCm39) S32G probably benign Het
Or7e173 A T 9: 19,938,509 (GRCm39) S242T probably damaging Het
Pask A T 1: 93,242,061 (GRCm39) F1219I probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plec G A 15: 76,058,280 (GRCm39) Q3751* probably null Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sema4a C T 3: 88,355,456 (GRCm39) probably benign Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Spag1 G T 15: 36,192,193 (GRCm39) K217N probably damaging Het
Ssh1 C T 5: 114,104,792 (GRCm39) R9H probably damaging Het
St3gal4 C A 9: 34,964,744 (GRCm39) V155F probably damaging Het
Stxbp5 C T 10: 9,684,784 (GRCm39) E539K possibly damaging Het
Tbc1d7 G T 13: 43,308,161 (GRCm39) probably benign Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Ttc21b T C 2: 66,073,117 (GRCm39) I190V probably benign Het
Ttn T C 2: 76,537,391 (GRCm39) T34846A probably benign Het
Ube4a A G 9: 44,861,114 (GRCm39) V232A possibly damaging Het
Uri1 A T 7: 37,669,100 (GRCm39) D122E probably damaging Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zan T A 5: 137,456,901 (GRCm39) E1278D unknown Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging 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
IGL03388:Ppp1r12c APN 7 4,485,069 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TAGGCCCAACCTATGTCACAGCTC -3'
(R):5'- TGAAATCAGCCGTTGCCCTCAC -3'

Sequencing Primer
(F):5'- TCCTCAATATACCCAGAGGTGC -3'
(R):5'- AGTAGGTTGCTACTCCAAGC -3'
Posted On 2013-11-08