Incidental Mutation 'R9081:Ppp1r12b'
ID 689993
Institutional Source Beutler Lab
Gene Symbol Ppp1r12b
Ensembl Gene ENSMUSG00000073557
Gene Name protein phosphatase 1, regulatory subunit 12B
Synonyms 1810037O03Rik, 9530009M10Rik
MMRRC Submission 068900-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R9081 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 134682396-134883680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134705085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 868 (V868I)
Ref Sequence ENSEMBL: ENSMUSP00000131406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000168381]
AlphaFold Q8BG95
Predicted Effect probably benign
Transcript: ENSMUST00000045665
AA Change: V868I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: V868I

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: V868I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: V868I

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: ENSMUST00000168381
AA Change: V868I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: V868I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,502 (GRCm39) V271E probably damaging Het
Abca1 A G 4: 53,109,162 (GRCm39) probably null Het
Abcb11 C T 2: 69,122,388 (GRCm39) C365Y possibly damaging Het
Abcd2 A T 15: 91,075,772 (GRCm39) W14R probably damaging Het
Acmsd A G 1: 127,687,468 (GRCm39) D250G possibly damaging Het
Ahnak T A 19: 8,985,890 (GRCm39) D2391E possibly damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Cbr1 G T 16: 93,406,994 (GRCm39) G237* probably null Het
Cdr2l T A 11: 115,284,939 (GRCm39) V425E probably damaging Het
Chd9 A T 8: 91,704,144 (GRCm39) K693* probably null Het
Clgn T G 8: 84,153,169 (GRCm39) D590E probably damaging Het
Col14a1 T A 15: 55,291,387 (GRCm39) S952T unknown Het
Crip3 T C 17: 46,740,959 (GRCm39) L90P probably benign Het
Dchs1 A G 7: 105,403,636 (GRCm39) S2969P probably benign Het
Dnai2 T A 11: 114,629,493 (GRCm39) D173E probably damaging Het
Dnpep A T 1: 75,291,060 (GRCm39) F257Y probably damaging Het
Egln2 A G 7: 26,864,286 (GRCm39) V213A probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Eps8 A G 6: 137,504,415 (GRCm39) I106T probably benign Het
Evi5 A G 5: 107,963,571 (GRCm39) F379L probably benign Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fpgs A T 2: 32,577,500 (GRCm39) probably benign Het
Garnl3 T G 2: 32,896,920 (GRCm39) D573A possibly damaging Het
Gja8 A G 3: 96,826,676 (GRCm39) S329P probably damaging Het
Gzf1 T A 2: 148,525,317 (GRCm39) probably benign Het
Hgs T A 11: 120,366,076 (GRCm39) probably benign Het
Ifi203 A G 1: 173,757,048 (GRCm39) I245T unknown Het
Ighv1-74 C A 12: 115,766,454 (GRCm39) W55C probably damaging Het
Iqcb1 A G 16: 36,656,006 (GRCm39) K131R probably null Het
Kit A T 5: 75,801,218 (GRCm39) M539L probably benign Het
Klk1 A G 7: 43,874,952 (GRCm39) probably benign Het
Krt84 C T 15: 101,440,814 (GRCm39) G126D unknown Het
Lama5 A T 2: 179,833,930 (GRCm39) C1473* probably null Het
Loxl3 T C 6: 83,025,638 (GRCm39) V332A possibly damaging Het
Mcf2l T A 8: 13,068,697 (GRCm39) Y1120N probably damaging Het
Meioc G A 11: 102,565,001 (GRCm39) V150M probably benign Het
Mybpc1 T G 10: 88,389,168 (GRCm39) Y400S probably damaging Het
Ncmap T C 4: 135,104,292 (GRCm39) probably benign Het
Noc2l A G 4: 156,326,224 (GRCm39) Y437C probably damaging Het
Nol8 A T 13: 49,814,881 (GRCm39) M330L probably benign Het
Or10d4c A T 9: 39,558,196 (GRCm39) Y58F probably damaging Het
Or5b113 C T 19: 13,342,019 (GRCm39) T9I probably benign Het
P4ha1 T C 10: 59,184,185 (GRCm39) Y216H probably damaging Het
Pamr1 A T 2: 102,441,933 (GRCm39) D174V probably damaging Het
Pdcd1 C T 1: 93,968,880 (GRCm39) probably null Het
Plec A G 15: 76,059,908 (GRCm39) V3343A probably damaging Het
Pnliprp1 A T 19: 58,723,406 (GRCm39) I266F probably benign Het
Poglut2 T A 1: 44,153,966 (GRCm39) Q161L probably benign Het
Ppp2r2b A T 18: 42,781,825 (GRCm39) H325Q probably benign Het
Rif1 C T 2: 52,000,989 (GRCm39) T1481I probably damaging Het
Rnf213 A T 11: 119,357,062 (GRCm39) D4204V Het
Rps6kl1 T C 12: 85,185,881 (GRCm39) N409S probably damaging Het
Rundc1 T G 11: 101,316,053 (GRCm39) W42G probably damaging Het
Sec1 C T 7: 45,333,987 (GRCm39) probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Shc2 T C 10: 79,462,762 (GRCm39) probably null Het
Slc19a1 T C 10: 76,877,750 (GRCm39) V95A possibly damaging Het
Slc22a5 A T 11: 53,762,447 (GRCm39) D333E probably damaging Het
Specc1 A C 11: 62,010,051 (GRCm39) R522S possibly damaging Het
Syne2 C T 12: 76,016,290 (GRCm39) Q3291* probably null Het
Taar7e G A 10: 23,913,893 (GRCm39) V128I probably benign Het
Tdrd3 A G 14: 87,743,717 (GRCm39) N555S probably benign Het
Themis C T 10: 28,544,582 (GRCm39) probably benign Het
Tjp1 A G 7: 64,964,010 (GRCm39) V945A possibly damaging Het
Tom1 G A 8: 75,778,151 (GRCm39) V78I probably damaging Het
Usp13 A G 3: 32,935,542 (GRCm39) T323A probably benign Het
Usp49 T C 17: 47,984,236 (GRCm39) S414P possibly damaging Het
Vmn1r104 G A 7: 20,268,378 (GRCm39) S206N probably damaging Het
Vps45 A T 3: 95,940,125 (GRCm39) V446E probably benign Het
Wwc1 T C 11: 35,782,331 (GRCm39) K222R probably benign Het
Zc3h13 CAGAGACCGGGACAGAAGGAGAGAC CAGAGAC 14: 75,569,381 (GRCm39) probably benign 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
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
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'- CAATGTACACGTCGTCTTTCG -3'
(R):5'- AAAAGGCACAGACTAGCCTTATGG -3'

Sequencing Primer
(F):5'- CGTCTTTCGTGGGCAGAGC -3'
(R):5'- GCACAGACTAGCCTTATGGTCTCG -3'
Posted On 2021-11-19