Incidental Mutation 'R5056:Ppp1r12b'
ID 390821
Institutional Source Beutler Lab
Gene Symbol Ppp1r12b
Ensembl Gene ENSMUSG00000073557
Gene Name protein phosphatase 1, regulatory subunit 12B
Synonyms 1810037O03Rik, 9530009M10Rik
MMRRC Submission 042646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R5056 (G1)
Quality Score 152
Status Validated
Chromosome 1
Chromosomal Location 134682396-134883680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 134883471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 17 (A17E)
Ref Sequence ENSEMBL: ENSMUSP00000131406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000112163] [ENSMUST00000168381]
AlphaFold Q8BG95
Predicted Effect probably benign
Transcript: ENSMUST00000045665
AA Change: A17E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: A17E

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 benign
Transcript: ENSMUST00000086444
AA Change: A17E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: A17E

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 probably benign
Transcript: ENSMUST00000112163
AA Change: A17E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107788
Gene: ENSMUSG00000073557
AA Change: A17E

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
Pfam:Ank_5 45 97 1.3e-8 PFAM
Pfam:Ank_3 59 86 9.2e-6 PFAM
Pfam:Ank_4 60 97 6.2e-9 PFAM
Pfam:Ank 63 89 1.4e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132025
Predicted Effect probably benign
Transcript: ENSMUST00000168381
AA Change: A17E

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: A17E

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,421 (GRCm39) K229* probably null Het
Adora2a T A 10: 75,161,992 (GRCm39) S44T probably damaging Het
Agap3 T C 5: 24,682,860 (GRCm39) V459A probably damaging Het
Apc2 T C 10: 80,137,148 (GRCm39) V31A probably benign Het
Asic2 T A 11: 80,862,429 (GRCm39) K189N possibly damaging Het
Bbs10 C T 10: 111,136,401 (GRCm39) P505S probably benign Het
Brd10 A T 19: 29,694,759 (GRCm39) I1578K probably benign Het
Cdh20 G T 1: 104,881,722 (GRCm39) V396L probably benign Het
Cenpb C T 2: 131,020,091 (GRCm39) probably benign Het
Chil6 T A 3: 106,301,659 (GRCm39) Y147F probably damaging Het
Cluh C T 11: 74,552,772 (GRCm39) R606C probably damaging Het
Cmtr1 A G 17: 29,909,302 (GRCm39) T404A possibly damaging Het
Cnot1 T C 8: 96,467,636 (GRCm39) N1499S probably damaging Het
Dmkn T C 7: 30,463,529 (GRCm39) S61P probably damaging Het
Dmxl1 T C 18: 50,003,990 (GRCm39) C872R probably benign Het
Dnah3 A G 7: 119,620,169 (GRCm39) Y1587H probably damaging Het
Dsc2 A T 18: 20,183,199 (GRCm39) V73D probably damaging Het
F5 A T 1: 164,019,601 (GRCm39) Y692F possibly damaging Het
Fam184a A T 10: 53,550,670 (GRCm39) L80I probably damaging Het
Foxj2 A G 6: 122,810,833 (GRCm39) H271R probably benign Het
Grm7 A G 6: 111,057,404 (GRCm39) T335A probably damaging Het
Hspa9 A G 18: 35,071,734 (GRCm39) L622P probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnd3 T A 3: 105,574,244 (GRCm39) probably benign Het
Klhdc8b ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC 9: 108,326,184 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrch4 C G 5: 137,635,113 (GRCm39) N237K probably damaging Het
Lss T G 10: 76,388,760 (GRCm39) probably null Het
Map6 T C 7: 98,985,859 (GRCm39) F588L probably benign Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Med13 A T 11: 86,219,391 (GRCm39) S352T probably benign Het
Mettl16 T A 11: 74,707,766 (GRCm39) V320E probably benign Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nup188 T A 2: 30,194,143 (GRCm39) D149E probably damaging Het
Ogfrl1 A G 1: 23,418,130 (GRCm39) S83P probably damaging Het
Or52l1 T A 7: 104,829,779 (GRCm39) H262L probably damaging Het
Or5m13 T A 2: 85,748,480 (GRCm39) D70E probably damaging Het
Or8k36-ps1 T A 2: 86,437,364 (GRCm39) I184F unknown Het
Or9m1 T C 2: 87,733,915 (GRCm39) Y35C probably damaging Het
Pafah1b3 C T 7: 24,994,764 (GRCm39) R98Q probably damaging Het
Pde6b A T 5: 108,571,357 (GRCm39) K437* probably null Het
Pramel34 T C 5: 93,786,784 (GRCm39) probably benign Het
Prdm9 T C 17: 15,782,679 (GRCm39) Q104R possibly damaging Het
Rgs22 A T 15: 36,050,391 (GRCm39) probably null Het
Rnf14 C T 18: 38,441,441 (GRCm39) P277L probably damaging Het
Robo4 T C 9: 37,316,102 (GRCm39) S258P probably benign Het
Sfrp1 T A 8: 23,907,420 (GRCm39) F207I probably damaging Het
Sgms1 A G 19: 32,137,087 (GRCm39) S160P probably damaging Het
Sil1 T C 18: 35,402,755 (GRCm39) K263R probably benign Het
St14 A G 9: 31,008,847 (GRCm39) probably null Het
Syne2 A G 12: 75,955,905 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,995,835 (GRCm39) S1013P probably benign Het
Tent5b C T 4: 133,207,749 (GRCm39) R47W possibly damaging Het
Tmem67 T C 4: 12,070,471 (GRCm39) S352G probably benign Het
Trib2 C A 12: 15,843,795 (GRCm39) K282N possibly damaging Het
Trnau1ap T C 4: 132,054,482 (GRCm39) probably benign Het
Trpm4 T C 7: 44,958,054 (GRCm39) D952G probably damaging Het
Unc93b1 A G 19: 3,992,762 (GRCm39) N305D possibly damaging Het
Usp32 A G 11: 84,917,621 (GRCm39) V802A probably benign Het
Vmn2r48 T A 7: 9,676,251 (GRCm39) H410L probably damaging Het
Wfs1 T C 5: 37,132,931 (GRCm39) N116S probably benign Het
Wif1 A T 10: 120,935,684 (GRCm39) H333L probably benign Het
Zfp109 T C 7: 23,928,162 (GRCm39) T416A possibly damaging Het
Zfp808 T A 13: 62,320,444 (GRCm39) C558S probably damaging Het
Zpbp T C 11: 11,409,734 (GRCm39) D116G 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
R0189:Ppp1r12b UTSW 1 134,793,514 (GRCm39) critical splice donor 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 1 134,762,130 (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'- GTTGATGTCCGCACCTCTTG -3'
(R):5'- AGGTCTCCTACTACAAGTCCCG -3'

Sequencing Primer
(F):5'- GCACCTCTTGCCAGAAGC -3'
(R):5'- CGTGCGTGCTGAAGCTAAG -3'
Posted On 2016-06-06