Incidental Mutation 'R1839:Ppp1r12b'
ID 205563
Institutional Source Beutler Lab
Gene Symbol Ppp1r12b
Ensembl Gene ENSMUSG00000073557
Gene Name protein phosphatase 1, regulatory subunit 12B
Synonyms 1810037O03Rik, 9530009M10Rik
MMRRC Submission 045015-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R1839 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 134682396-134883680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134765719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 667 (R667G)
Ref Sequence ENSEMBL: ENSMUSP00000047463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000168381]
AlphaFold Q8BG95
Predicted Effect probably benign
Transcript: ENSMUST00000045665
AA Change: R667G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: R667G

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: R667G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: R667G

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 noncoding transcript
Transcript: ENSMUST00000146639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156348
Predicted Effect probably benign
Transcript: ENSMUST00000168381
AA Change: R667G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: R667G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188123
Meta Mutation Damage Score 0.1001 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.7%
  • 20x: 90.6%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,203,369 (GRCm39) T403A probably damaging Het
Acat3 T A 17: 13,147,493 (GRCm39) R175* probably null Het
Adam1b C A 5: 121,639,104 (GRCm39) C647F probably damaging Het
Adam28 T C 14: 68,876,659 (GRCm39) N197S possibly damaging Het
Adcy2 C T 13: 68,837,380 (GRCm39) probably null Het
Adcy5 A T 16: 35,069,310 (GRCm39) N426I probably damaging Het
Adgre1 T C 17: 57,748,299 (GRCm39) S500P probably benign Het
Aloxe3 A G 11: 69,020,911 (GRCm39) Y212C probably damaging Het
Ap3d1 A G 10: 80,562,942 (GRCm39) S180P probably damaging Het
Arhgap20 C T 9: 51,760,626 (GRCm39) R790W probably damaging Het
Atp8b4 C A 2: 126,203,702 (GRCm39) A757S possibly damaging Het
Begain G A 12: 109,001,249 (GRCm39) probably benign Het
Ccdc141 T C 2: 76,842,009 (GRCm39) E1474G probably benign Het
Ccdc88b A G 19: 6,831,477 (GRCm39) probably benign Het
Ccnk A G 12: 108,161,333 (GRCm39) T195A probably damaging Het
Cd55b C A 1: 130,341,842 (GRCm39) C265F probably damaging Het
Celsr3 A G 9: 108,707,105 (GRCm39) H1196R probably benign Het
Cenpt T C 8: 106,575,646 (GRCm39) S190G possibly damaging Het
Chd8 T C 14: 52,442,340 (GRCm39) S2077G probably benign Het
Col6a5 G A 9: 105,742,032 (GRCm39) H2296Y probably benign Het
Cxxc4 C A 3: 133,946,414 (GRCm39) H332N probably damaging Het
Cyp24a1 T C 2: 170,338,661 (GRCm39) I12V probably benign Het
Cyp3a57 T A 5: 145,318,111 (GRCm39) L364Q probably damaging Het
Ddi2 T C 4: 141,440,837 (GRCm39) I47V probably benign Het
Ddx5 A T 11: 106,675,723 (GRCm39) D322E probably benign Het
Dhx40 A G 11: 86,680,123 (GRCm39) C405R possibly damaging Het
Emc1 T C 4: 139,087,796 (GRCm39) F100S probably damaging Het
Exoc2 T C 13: 31,090,480 (GRCm39) probably benign Het
Gm10110 A T 14: 90,135,272 (GRCm39) noncoding transcript Het
Gm17332 T C 11: 31,132,386 (GRCm39) H26R possibly damaging Het
Gna12 T C 5: 140,748,367 (GRCm39) N183S probably benign Het
Gpx6 A G 13: 21,496,497 (GRCm39) N24D probably benign Het
Gsdma3 C T 11: 98,520,684 (GRCm39) A105V probably benign Het
Hsd3b5 T C 3: 98,527,044 (GRCm39) Y134C probably benign Het
Ifi213 T C 1: 173,417,166 (GRCm39) I415M probably damaging Het
Ints9 C A 14: 65,253,979 (GRCm39) P278T probably damaging Het
Krt79 C T 15: 101,846,373 (GRCm39) E192K possibly damaging Het
Lrrk2 A G 15: 91,567,337 (GRCm39) N132S probably benign Het
Ltn1 T A 16: 87,213,152 (GRCm39) K470* probably null Het
Magi2 A T 5: 20,670,825 (GRCm39) T163S probably damaging Het
Mcm9 A G 10: 53,417,649 (GRCm39) M18T probably damaging Het
Med12l A G 3: 58,975,740 (GRCm39) T212A probably benign Het
Mfhas1 T C 8: 36,058,012 (GRCm39) L829P possibly damaging Het
Mgme1 T A 2: 144,121,407 (GRCm39) C288S probably benign Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myh7 T C 14: 55,210,637 (GRCm39) N1725S possibly damaging Het
Naa80 G A 9: 107,460,216 (GRCm39) R37H possibly damaging Het
Nme4 A T 17: 26,311,071 (GRCm39) W165R probably damaging Het
Nup205 T A 6: 35,196,649 (GRCm39) D1128E probably benign Het
Or2t48 A T 11: 58,420,199 (GRCm39) Y204* probably null Het
Or5ae2 T C 7: 84,505,756 (GRCm39) Y60H probably damaging Het
Pcdh1 T C 18: 38,332,538 (GRCm39) D155G possibly damaging Het
Pex12 A T 11: 83,188,648 (GRCm39) S116T probably damaging Het
Plekhh1 C T 12: 79,125,731 (GRCm39) probably benign Het
Plekhh3 A G 11: 101,054,426 (GRCm39) probably benign Het
Pnpt1 T C 11: 29,104,342 (GRCm39) M572T possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rgs14 T C 13: 55,530,651 (GRCm39) probably benign Het
Rhbdf2 A T 11: 116,491,017 (GRCm39) V645E possibly damaging Het
Robo3 A G 9: 37,333,623 (GRCm39) V696A probably benign Het
Sall1 A G 8: 89,755,344 (GRCm39) F1212L possibly damaging Het
Sdc4 T C 2: 164,270,932 (GRCm39) E109G probably benign Het
Serpind1 G T 16: 17,160,856 (GRCm39) R462L probably damaging Het
Smad9 CTTT CTT 3: 54,696,600 (GRCm39) probably benign Het
Sstr4 C A 2: 148,237,453 (GRCm39) N21K probably benign Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Thap4 T C 1: 93,678,009 (GRCm39) E259G probably benign Het
Thra A G 11: 98,646,969 (GRCm39) N30S probably benign Het
Tmem207 A T 16: 26,343,571 (GRCm39) V27E possibly damaging Het
Top3a A G 11: 60,644,714 (GRCm39) V305A probably damaging Het
Trim59 A T 3: 68,944,971 (GRCm39) I123K probably damaging Het
Ttn T C 2: 76,691,839 (GRCm39) probably benign Het
Ubac1 T A 2: 25,897,750 (GRCm39) E290V possibly damaging Het
Unc13b T C 4: 43,258,308 (GRCm39) probably benign Het
Uri1 A T 7: 37,666,814 (GRCm39) D206E probably benign Het
Utp4 A G 8: 107,640,086 (GRCm39) H465R probably benign Het
Uvssa T C 5: 33,547,096 (GRCm39) S221P probably benign Het
Vmn1r39 T C 6: 66,782,217 (GRCm39) probably null Het
Vps39 A T 2: 120,155,878 (GRCm39) L514H probably damaging Het
Vps72 G A 3: 95,026,529 (GRCm39) R158Q possibly damaging Het
Wdr59 T C 8: 112,211,972 (GRCm39) D366G probably benign Het
Zfp366 C A 13: 99,365,000 (GRCm39) Q54K probably damaging Het
Zfp523 T A 17: 28,413,967 (GRCm39) I34N probably damaging Het
Zfp974 G A 7: 27,609,781 (GRCm39) P648L 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
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'- TTCACTTCAAGGCAGGATAGC -3'
(R):5'- ATGTGTTGCTAGAAATGGCCTG -3'

Sequencing Primer
(F):5'- GCAGGATAGCATTTAAGTCACC -3'
(R):5'- CTAGAAATGGCCTGTTGGGAG -3'
Posted On 2014-06-23