Incidental Mutation 'R0189:Ppp1r12b'
ID 23084
Institutional Source Beutler Lab
Gene Symbol Ppp1r12b
Ensembl Gene ENSMUSG00000073557
Gene Name protein phosphatase 1, regulatory subunit 12B
Synonyms 1810037O03Rik, 9530009M10Rik
MMRRC Submission 038450-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R0189 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 134682396-134883680 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 134793514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000168381]
AlphaFold Q8BG95
Predicted Effect probably null
Transcript: ENSMUST00000045665
SMART Domains Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
ANK 56 86 8.36e1 SMART
ANK 90 119 5.32e-5 SMART
ANK 123 152 1.08e-5 SMART
ANK 216 245 1.51e-4 SMART
ANK 249 278 3.85e-2 SMART
low complexity region 351 379 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
low complexity region 465 477 N/A INTRINSIC
internal_repeat_3 539 576 2.45e-5 PROSPERO
PDB:2KJY|A 608 663 3e-12 PDB
internal_repeat_3 729 766 2.45e-5 PROSPERO
low complexity region 790 800 N/A INTRINSIC
low complexity region 840 864 N/A INTRINSIC
coiled coil region 867 974 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000086444
SMART Domains Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
ANK 56 86 8.36e1 SMART
ANK 90 119 5.32e-5 SMART
ANK 123 152 1.08e-5 SMART
ANK 216 245 1.51e-4 SMART
ANK 249 278 3.85e-2 SMART
low complexity region 351 379 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
low complexity region 465 477 N/A INTRINSIC
internal_repeat_3 539 576 1.9e-5 PROSPERO
PDB:2KJY|A 608 663 3e-12 PDB
internal_repeat_3 729 766 1.9e-5 PROSPERO
low complexity region 790 800 N/A INTRINSIC
low complexity region 840 864 N/A INTRINSIC
Pfam:PRKG1_interact 875 982 4.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132025
Predicted Effect probably null
Transcript: ENSMUST00000168381
SMART Domains Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
ANK 56 86 8.36e1 SMART
ANK 90 119 5.32e-5 SMART
ANK 123 152 1.08e-5 SMART
ANK 216 245 1.51e-4 SMART
ANK 249 278 3.85e-2 SMART
low complexity region 351 379 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
low complexity region 465 477 N/A INTRINSIC
internal_repeat_3 539 576 1.9e-5 PROSPERO
PDB:2KJY|A 608 663 3e-12 PDB
internal_repeat_3 729 766 1.9e-5 PROSPERO
low complexity region 790 800 N/A INTRINSIC
low complexity region 840 864 N/A INTRINSIC
coiled coil region 867 986 N/A INTRINSIC
Meta Mutation Damage Score 0.9479 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.1%
Validation Efficiency 98% (96/98)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 109,999,479 (GRCm39) W1459R probably damaging Het
Abca9 A T 11: 110,032,488 (GRCm39) probably benign Het
Adam25 T A 8: 41,208,467 (GRCm39) C578S probably damaging Het
Adam32 T A 8: 25,412,353 (GRCm39) probably null Het
Add1 T C 5: 34,773,992 (GRCm39) V67A probably benign Het
Aggf1 A T 13: 95,492,988 (GRCm39) probably benign Het
Ahcyl2 A T 6: 29,891,242 (GRCm39) I449F probably benign Het
Ak6 A G 13: 100,791,650 (GRCm39) Y31C probably damaging Het
Akap6 T C 12: 53,188,037 (GRCm39) V1817A probably benign Het
Arhgef17 G T 7: 100,578,057 (GRCm39) P964T probably damaging Het
Atxn7l3b A T 10: 112,764,485 (GRCm39) L48Q possibly damaging Het
Bbs10 T G 10: 111,136,926 (GRCm39) S680A probably damaging Het
Bcl7c G A 7: 127,304,936 (GRCm39) T164I probably damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Ccdc110 T A 8: 46,388,119 (GRCm39) D25E probably damaging Het
Ccdc83 T A 7: 89,875,891 (GRCm39) T327S possibly damaging Het
Coro1b T C 19: 4,203,250 (GRCm39) Y364H probably damaging Het
Cstf3 A G 2: 104,482,791 (GRCm39) D313G probably damaging Het
Dlgap5 T A 14: 47,650,432 (GRCm39) probably null Het
Dusp3 A T 11: 101,872,547 (GRCm39) I83N probably damaging Het
Eea1 A T 10: 95,831,444 (GRCm39) K178N possibly damaging Het
Efr3b T A 12: 4,032,925 (GRCm39) D144V probably damaging Het
Gfus C A 15: 75,798,827 (GRCm39) D127Y probably damaging Het
Gm1110 T A 9: 26,794,514 (GRCm39) E504V probably null Het
Got2 T C 8: 96,614,881 (GRCm39) H18R probably benign Het
Gprc5b T C 7: 118,582,856 (GRCm39) M338V probably benign Het
Has2 A T 15: 56,531,831 (GRCm39) F295I probably damaging Het
Hcn3 T C 3: 89,056,107 (GRCm39) D519G probably damaging Het
Ino80 T A 2: 119,210,160 (GRCm39) D1377V probably benign Het
Iqsec3 A T 6: 121,390,521 (GRCm39) probably benign Het
Kif3c T A 12: 3,415,989 (GRCm39) S3R probably benign Het
Krt17 A G 11: 100,151,445 (GRCm39) I116T possibly damaging Het
Lrba T C 3: 86,275,816 (GRCm39) V1728A probably damaging Het
Map3k6 G T 4: 132,974,252 (GRCm39) V550L possibly damaging Het
Mcph1 T C 8: 18,838,487 (GRCm39) V803A probably damaging Het
Med13 A G 11: 86,210,702 (GRCm39) V480A probably benign Het
Ms4a20 A G 19: 11,074,311 (GRCm39) V207A possibly damaging Het
Msh5 T C 17: 35,248,630 (GRCm39) E772G probably null Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ndfip2 T C 14: 105,542,174 (GRCm39) L308P probably damaging Het
Ndufb10 T C 17: 24,943,209 (GRCm39) T34A probably benign Het
Nipal3 A T 4: 135,195,829 (GRCm39) I258N possibly damaging Het
Nup54 A G 5: 92,570,423 (GRCm39) V328A probably damaging Het
Oprm1 T C 10: 6,739,071 (GRCm39) V66A possibly damaging Het
Or10p21 T A 10: 128,847,191 (GRCm39) F12L possibly damaging Het
Or51ah3 G T 7: 103,210,289 (GRCm39) V202F probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or8b56 T A 9: 38,739,111 (GRCm39) Y41* probably null Het
Or9s14 T C 1: 92,535,615 (GRCm39) F19L probably damaging Het
Peg12 G A 7: 62,113,296 (GRCm39) T267I unknown Het
Phf20 A G 2: 156,145,061 (GRCm39) S890G probably benign Het
Plk2 C T 13: 110,535,997 (GRCm39) T567M probably damaging Het
Pola2 A T 19: 5,992,370 (GRCm39) probably benign Het
Prickle1 A T 15: 93,400,900 (GRCm39) L528* probably null Het
Prpf6 T A 2: 181,297,250 (GRCm39) N903K probably benign Het
Ptprc G A 1: 138,010,453 (GRCm39) A601V probably benign Het
Ranbp1 A T 16: 18,059,607 (GRCm39) probably null Het
Rapgef6 C T 11: 54,582,075 (GRCm39) S1334L probably benign Het
Rgs2 T C 1: 143,878,022 (GRCm39) probably null Het
Ripk2 A T 4: 16,129,125 (GRCm39) probably null Het
Rnf17 A G 14: 56,719,650 (GRCm39) S967G probably null Het
Rock2 T A 12: 17,009,517 (GRCm39) probably benign Het
Rpusd3 C T 6: 113,392,514 (GRCm39) probably null Het
Scgb1b20 G T 7: 33,072,935 (GRCm39) V48L probably benign Het
Sec16a T A 2: 26,314,426 (GRCm39) probably null Het
Serpina5 T A 12: 104,069,589 (GRCm39) L267H probably damaging Het
Slc12a3 C T 8: 95,082,986 (GRCm39) H875Y probably benign Het
Slc45a4 A G 15: 73,453,763 (GRCm39) S745P probably benign Het
Sucla2 T C 14: 73,830,088 (GRCm39) V375A probably damaging Het
Sun2 C A 15: 79,621,277 (GRCm39) V213F probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 C T 6: 7,562,424 (GRCm39) R129C probably damaging Het
Taf6 T C 5: 138,180,975 (GRCm39) E202G probably benign Het
Tex21 T A 12: 76,286,307 (GRCm39) H64L probably benign Het
Tgs1 A G 4: 3,593,620 (GRCm39) S503G probably benign Het
Tmem184c C T 8: 78,324,441 (GRCm39) V350I possibly damaging Het
Tnks1bp1 A G 2: 84,901,273 (GRCm39) S960G possibly damaging Het
Trbc2 T C 6: 41,525,083 (GRCm39) probably benign Het
Tubgcp2 A T 7: 139,581,518 (GRCm39) probably benign Het
Vmn1r39 T A 6: 66,782,181 (GRCm39) T46S probably benign Het
Vmn1r61 T C 7: 5,613,699 (GRCm39) H205R probably benign Het
Zdhhc14 T C 17: 5,775,539 (GRCm39) S264P possibly damaging Het
Zfp101 T A 17: 33,601,213 (GRCm39) H181L possibly damaging Het
Other mutations in Ppp1r12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Ppp1r12b APN 1 134,819,897 (GRCm39) missense probably damaging 1.00
IGL01788:Ppp1r12b APN 1 134,821,245 (GRCm39) missense possibly damaging 0.66
IGL01880:Ppp1r12b APN 1 134,814,159 (GRCm39) critical splice donor site probably null
IGL02109:Ppp1r12b APN 1 134,800,543 (GRCm39) critical splice donor site probably null
IGL02247:Ppp1r12b APN 1 134,763,721 (GRCm39) missense probably benign
IGL02336:Ppp1r12b APN 1 134,814,244 (GRCm39) missense probably damaging 1.00
IGL02903:Ppp1r12b APN 1 134,883,387 (GRCm39) missense probably benign
IGL02963:Ppp1r12b APN 1 134,814,286 (GRCm39) missense probably damaging 1.00
IGL03074:Ppp1r12b APN 1 134,763,758 (GRCm39) missense probably benign 0.01
IGL03302:Ppp1r12b APN 1 134,765,788 (GRCm39) splice site probably benign
R0102:Ppp1r12b UTSW 1 134,763,637 (GRCm39) critical splice acceptor site probably null
R0102:Ppp1r12b UTSW 1 134,763,637 (GRCm39) critical splice acceptor site probably null
R0556:Ppp1r12b UTSW 1 134,705,060 (GRCm39) missense probably damaging 1.00
R0594:Ppp1r12b UTSW 1 134,704,217 (GRCm39) missense probably damaging 1.00
R0690:Ppp1r12b UTSW 1 134,803,820 (GRCm39) missense probably damaging 1.00
R1354:Ppp1r12b UTSW 1 134,763,721 (GRCm39) missense probably benign 0.42
R1676:Ppp1r12b UTSW 1 134,705,190 (GRCm39) missense probably damaging 1.00
R1775:Ppp1r12b UTSW 1 134,821,086 (GRCm39) critical splice donor site probably null
R1839:Ppp1r12b UTSW 1 134,765,719 (GRCm39) missense probably benign 0.32
R1946:Ppp1r12b UTSW 1 134,820,008 (GRCm39) missense probably damaging 1.00
R1971:Ppp1r12b UTSW 1 134,793,651 (GRCm39) missense probably benign 0.00
R1997:Ppp1r12b UTSW 1 134,774,093 (GRCm39) intron probably benign
R3110:Ppp1r12b UTSW 1 134,800,570 (GRCm39) missense probably damaging 1.00
R3112:Ppp1r12b UTSW 1 134,800,570 (GRCm39) missense probably damaging 1.00
R3908:Ppp1r12b UTSW 1 134,770,470 (GRCm39) missense probably damaging 1.00
R3912:Ppp1r12b UTSW 1 134,815,056 (GRCm39) missense probably damaging 1.00
R3977:Ppp1r12b UTSW 1 134,693,713 (GRCm39) missense probably benign 0.00
R4243:Ppp1r12b UTSW 1 134,709,846 (GRCm39) intron probably benign
R4835:Ppp1r12b UTSW 1 134,883,471 (GRCm39) missense probably benign 0.21
R4836:Ppp1r12b UTSW 1 134,883,471 (GRCm39) missense probably benign 0.21
R4843:Ppp1r12b UTSW 1 134,883,471 (GRCm39) missense probably benign 0.21
R4854:Ppp1r12b UTSW 1 134,801,689 (GRCm39) missense probably damaging 1.00
R4870:Ppp1r12b UTSW 1 134,876,771 (GRCm39) missense probably benign 0.00
R4881:Ppp1r12b UTSW 1 134,883,471 (GRCm39) missense probably benign 0.21
R5024:Ppp1r12b UTSW 1 134,883,471 (GRCm39) missense probably benign 0.21
R5054:Ppp1r12b UTSW 1 134,883,471 (GRCm39) missense probably benign 0.21
R5055:Ppp1r12b UTSW 1 134,883,471 (GRCm39) missense probably benign 0.21
R5056:Ppp1r12b UTSW 1 134,883,471 (GRCm39) missense probably benign 0.21
R5056:Ppp1r12b UTSW 1 134,762,130 (GRCm39) intron probably benign
R5158:Ppp1r12b UTSW 1 134,814,166 (GRCm39) missense probably damaging 1.00
R5599:Ppp1r12b UTSW 1 134,793,645 (GRCm39) missense probably benign 0.08
R5771:Ppp1r12b UTSW 1 134,701,162 (GRCm39) critical splice donor site probably null
R5775:Ppp1r12b UTSW 1 134,803,780 (GRCm39) missense probably benign
R5872:Ppp1r12b UTSW 1 134,704,144 (GRCm39) missense probably benign 0.03
R5896:Ppp1r12b UTSW 1 134,693,719 (GRCm39) missense probably damaging 1.00
R6060:Ppp1r12b UTSW 1 134,883,262 (GRCm39) missense probably benign 0.02
R6129:Ppp1r12b UTSW 1 134,819,990 (GRCm39) nonsense probably null
R6369:Ppp1r12b UTSW 1 134,814,280 (GRCm39) missense possibly damaging 0.93
R6868:Ppp1r12b UTSW 1 134,814,176 (GRCm39) missense probably benign 0.00
R7681:Ppp1r12b UTSW 1 134,793,673 (GRCm39) missense probably benign 0.02
R7940:Ppp1r12b UTSW 1 134,803,793 (GRCm39) missense probably benign 0.00
R8057:Ppp1r12b UTSW 1 134,883,354 (GRCm39) missense probably damaging 1.00
R8070:Ppp1r12b UTSW 1 134,803,807 (GRCm39) missense probably benign 0.06
R8134:Ppp1r12b UTSW 1 134,814,280 (GRCm39) missense possibly damaging 0.93
R8147:Ppp1r12b UTSW 1 134,801,680 (GRCm39) missense possibly damaging 0.78
R8224:Ppp1r12b UTSW 1 134,830,200 (GRCm39) missense probably benign 0.19
R8270:Ppp1r12b UTSW 1 134,803,886 (GRCm39) missense probably benign 0.37
R8304:Ppp1r12b UTSW 1 134,824,101 (GRCm39) missense possibly damaging 0.65
R8803:Ppp1r12b UTSW 1 134,818,492 (GRCm39) critical splice donor site probably benign
R8826:Ppp1r12b UTSW 1 134,693,730 (GRCm39) missense probably benign 0.18
R8954:Ppp1r12b UTSW 1 134,762,200 (GRCm39) missense probably benign 0.00
R9081:Ppp1r12b UTSW 1 134,705,085 (GRCm39) missense probably benign 0.18
R9171:Ppp1r12b UTSW 1 134,801,725 (GRCm39) missense probably benign 0.01
R9223:Ppp1r12b UTSW 1 134,807,376 (GRCm39) missense probably benign 0.00
R9521:Ppp1r12b UTSW 1 134,705,063 (GRCm39) missense probably damaging 1.00
R9609:Ppp1r12b UTSW 1 134,824,084 (GRCm39) nonsense probably null
X0022:Ppp1r12b UTSW 1 134,763,611 (GRCm39) missense probably benign 0.00
X0027:Ppp1r12b UTSW 1 134,824,092 (GRCm39) missense probably damaging 1.00
Z1187:Ppp1r12b UTSW 1 134,883,262 (GRCm39) missense probably benign 0.02
Z1189:Ppp1r12b UTSW 1 134,883,262 (GRCm39) missense probably benign 0.02
Z1190:Ppp1r12b UTSW 1 134,883,262 (GRCm39) missense probably benign 0.02
Z1192:Ppp1r12b UTSW 1 134,883,262 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACCCAGCACTGCTTCTTTGAGCAC -3'
(R):5'- AGTCCTGGGCAGAAGATGTCAGAC -3'

Sequencing Primer
(F):5'- TGTCTGTCAGCTATAAGGCAAG -3'
(R):5'- GGACTCCTTACAAGTCCCAGG -3'
Posted On 2013-04-16