Incidental Mutation 'R5896:Ppp1r12b'
ID 457486
Institutional Source Beutler Lab
Gene Symbol Ppp1r12b
Ensembl Gene ENSMUSG00000073557
Gene Name protein phosphatase 1, regulatory subunit 12B
Synonyms 1810037O03Rik, 9530009M10Rik
MMRRC Submission 044095-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R5896 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 134682396-134883680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134693719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 981 (S981P)
Ref Sequence ENSEMBL: ENSMUSP00000131406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000168381]
AlphaFold Q8BG95
Predicted Effect probably benign
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 damaging
Transcript: ENSMUST00000086444
AA Change: S981P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: S981P

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: ENSMUST00000156348
Predicted Effect probably damaging
Transcript: ENSMUST00000168381
AA Change: S981P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: S981P

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: ENSMUST00000187702
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 99% (86/87)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik A T 16: 88,504,321 (GRCm39) S159T probably damaging Het
2610028H24Rik T A 10: 76,288,664 (GRCm39) M53K probably benign Het
3425401B19Rik G A 14: 32,383,632 (GRCm39) Q778* probably null Het
Abhd16a T A 17: 35,310,701 (GRCm39) probably benign Het
Acp6 A G 3: 97,075,810 (GRCm39) K226R probably benign Het
Ankfy1 A G 11: 72,650,811 (GRCm39) D998G probably damaging Het
Apbb1 G T 7: 105,223,432 (GRCm39) P60T probably damaging Het
Apol9a T A 15: 77,288,705 (GRCm39) I221F probably benign Het
Arhgap29 A G 3: 121,805,736 (GRCm39) E947G possibly damaging Het
B430218F22Rik A T 13: 118,523,934 (GRCm39) probably benign Het
Carmil3 ACCCCC ACCCCCCC 14: 55,741,456 (GRCm39) probably null Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccdc93 G T 1: 121,390,849 (GRCm39) V274L possibly damaging Het
Cdc25a A G 9: 109,713,433 (GRCm39) D191G probably benign Het
Cimip2a A T 2: 25,110,578 (GRCm39) M129L probably benign Het
Cmya5 A G 13: 93,182,373 (GRCm39) probably null Het
Crebzf TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 7: 90,092,479 (GRCm39) probably benign Het
Csde1 T C 3: 102,947,859 (GRCm39) probably benign Het
Ctdp1 A G 18: 80,502,003 (GRCm39) L177P probably damaging Het
Dnah5 T A 15: 28,272,206 (GRCm39) H1003Q probably benign Het
Epb41l2 T A 10: 25,369,494 (GRCm39) N604K probably damaging Het
Fig4 T A 10: 41,130,881 (GRCm39) N465Y possibly damaging Het
Gemin7 G A 7: 19,299,223 (GRCm39) S124F probably damaging Het
Gli3 G A 13: 15,900,765 (GRCm39) R1384K probably benign Het
Gm12258 G A 11: 58,750,457 (GRCm39) C544Y probably damaging Het
Grm1 C T 10: 10,956,294 (GRCm39) probably benign Het
H2-T15 T A 17: 36,367,236 (GRCm39) M329L probably benign Het
Hps4 C T 5: 112,517,351 (GRCm39) T246I probably benign Het
Ifngr2 A T 16: 91,358,653 (GRCm39) E284D possibly damaging Het
Impdh2 A G 9: 108,441,165 (GRCm39) T148A probably benign Het
Irx3 T C 8: 92,527,763 (GRCm39) S36G probably benign Het
Itga5 T A 15: 103,259,514 (GRCm39) K667N probably benign Het
Itgad G A 7: 127,773,188 (GRCm39) C15Y probably benign Het
Ly75 T G 2: 60,213,490 (GRCm39) E29A probably benign Het
Magi1 T A 6: 93,685,180 (GRCm39) S506C probably damaging Het
Map4 G A 9: 109,901,702 (GRCm39) V781M possibly damaging Het
Med23 T C 10: 24,778,043 (GRCm39) L797P probably damaging Het
Naip1 C T 13: 100,559,636 (GRCm39) G1123R probably benign Het
Ncor1 G T 11: 62,274,016 (GRCm39) P55Q probably damaging Het
Odr4 A T 1: 150,256,111 (GRCm39) N211K probably benign Het
Ofcc1 T A 13: 40,334,060 (GRCm39) I344F probably benign Het
Or4a74 C A 2: 89,439,667 (GRCm39) V260F probably damaging Het
Or4d5 A T 9: 40,012,189 (GRCm39) M199K probably damaging Het
Or5d35 A G 2: 87,855,465 (GRCm39) Y133C probably damaging Het
Or5k1 G A 16: 58,618,095 (GRCm39) T38I probably damaging Het
Otub2 C T 12: 103,369,687 (GRCm39) probably benign Het
Parva A G 7: 112,143,960 (GRCm39) M83V probably benign Het
Pcdha8 T A 18: 37,126,572 (GRCm39) N351K probably benign Het
Pcdhb5 T A 18: 37,455,732 (GRCm39) L704* probably null Het
Pkd1l3 T A 8: 110,353,468 (GRCm39) L683H probably damaging Het
Plekhn1 C T 4: 156,308,331 (GRCm39) R288H probably benign Het
Polr2a A T 11: 69,627,086 (GRCm39) N1457K probably damaging Het
Ppp1r9a A G 6: 5,159,648 (GRCm39) K1062E probably damaging Het
Ptpre A T 7: 135,276,007 (GRCm39) T498S probably benign Het
Pus7l C T 15: 94,427,332 (GRCm39) probably null Het
Rptn C T 3: 93,305,639 (GRCm39) Q991* probably null Het
Rsu1 T G 2: 13,229,170 (GRCm39) E76A probably damaging Het
Septin11 T A 5: 93,304,824 (GRCm39) F214I probably damaging Het
Slc1a7 G T 4: 107,869,587 (GRCm39) A551S probably benign Het
Slc45a2 T A 15: 11,000,941 (GRCm39) Y13* probably null Het
Slc7a14 T G 3: 31,311,719 (GRCm39) L100F probably damaging Het
Slit3 A G 11: 35,598,932 (GRCm39) E1512G probably damaging Het
Stat5a A G 11: 100,767,883 (GRCm39) Q458R possibly damaging Het
Svep1 T C 4: 58,084,906 (GRCm39) T1811A possibly damaging Het
Tarbp1 A G 8: 127,179,667 (GRCm39) F624L probably benign Het
Tfeb T G 17: 48,070,433 (GRCm39) probably null Het
Tnxb G A 17: 34,891,126 (GRCm39) G490R probably damaging Het
Tra2b T C 16: 22,077,953 (GRCm39) Y32C probably damaging Het
Trpv4 C T 5: 114,760,708 (GRCm39) probably benign Het
Uvrag A T 7: 98,637,414 (GRCm39) L138* probably null Het
Vwf A T 6: 125,655,725 (GRCm39) probably null Het
Wdr47 G A 3: 108,526,322 (GRCm39) D282N probably damaging Het
Xirp2 A G 2: 67,340,290 (GRCm39) N844D possibly damaging Het
Xirp2 A G 2: 67,339,042 (GRCm39) M428V probably benign Het
Znfx1 G A 2: 166,880,920 (GRCm39) T288I probably 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 1 134,883,471 (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
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'- GTGGACTCCATCTCCAGATAAC -3'
(R):5'- TGCCTTTCTTGCATGCAAAC -3'

Sequencing Primer
(F):5'- ACCAGTTTTACAGATACCTGGC -3'
(R):5'- GAAAGTCACGTAGTTTCTTTGTCC -3'
Posted On 2017-02-15