Incidental Mutation 'IGL01358:Ppp1r12b'
ID75608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r12b
Ensembl Gene ENSMUSG00000073557
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 12B
Synonyms9530009M10Rik, 1810037O03Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.280) question?
Stock #IGL01358
Quality Score
Status
Chromosome1
Chromosomal Location134754658-134955942 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 134892159 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 282 (L282Q)
Ref Sequence ENSEMBL: ENSMUSP00000047463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000168381]
Predicted Effect probably damaging
Transcript: ENSMUST00000045665
AA Change: L282Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: L282Q

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: L282Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: L282Q

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 damaging
Transcript: ENSMUST00000168381
AA Change: L282Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: L282Q

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,636,154 Y316C probably damaging Het
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Clk3 T C 9: 57,754,592 T391A probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Kctd21 T A 7: 97,347,374 L18Q probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mafk T C 5: 139,800,493 S149P probably damaging Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Parp11 C T 6: 127,471,563 Q48* probably null Het
Pgc T C 17: 47,730,666 V175A probably benign Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rtn4r G T 16: 18,151,396 M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Zkscan4 G A 13: 21,484,305 E309K possibly damaging Het
Other mutations in Ppp1r12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01788:Ppp1r12b APN 1 134893507 missense possibly damaging 0.66
IGL01880:Ppp1r12b APN 1 134886421 critical splice donor site probably null
IGL02109:Ppp1r12b APN 1 134872805 critical splice donor site probably null
IGL02247:Ppp1r12b APN 1 134835983 missense probably benign
IGL02336:Ppp1r12b APN 1 134886506 missense probably damaging 1.00
IGL02903:Ppp1r12b APN 1 134955649 missense probably benign
IGL02963:Ppp1r12b APN 1 134886548 missense probably damaging 1.00
IGL03074:Ppp1r12b APN 1 134836020 missense probably benign 0.01
IGL03302:Ppp1r12b APN 1 134838050 splice site probably benign
R0102:Ppp1r12b UTSW 1 134835899 critical splice acceptor site probably null
R0102:Ppp1r12b UTSW 1 134835899 critical splice acceptor site probably null
R0189:Ppp1r12b UTSW 1 134865776 critical splice donor site probably null
R0556:Ppp1r12b UTSW 1 134777322 missense probably damaging 1.00
R0594:Ppp1r12b UTSW 1 134776479 missense probably damaging 1.00
R0690:Ppp1r12b UTSW 1 134876082 missense probably damaging 1.00
R1354:Ppp1r12b UTSW 1 134835983 missense probably benign 0.42
R1676:Ppp1r12b UTSW 1 134777452 missense probably damaging 1.00
R1775:Ppp1r12b UTSW 1 134893348 critical splice donor site probably null
R1839:Ppp1r12b UTSW 1 134837981 missense probably benign 0.32
R1946:Ppp1r12b UTSW 1 134892270 missense probably damaging 1.00
R1971:Ppp1r12b UTSW 1 134865913 missense probably benign 0.00
R1997:Ppp1r12b UTSW 1 134846355 intron probably benign
R3110:Ppp1r12b UTSW 1 134872832 missense probably damaging 1.00
R3112:Ppp1r12b UTSW 1 134872832 missense probably damaging 1.00
R3908:Ppp1r12b UTSW 1 134842732 missense probably damaging 1.00
R3912:Ppp1r12b UTSW 1 134887318 missense probably damaging 1.00
R3977:Ppp1r12b UTSW 1 134765975 missense probably benign 0.00
R4243:Ppp1r12b UTSW 1 134782108 intron probably benign
R4835:Ppp1r12b UTSW 1 134955733 missense probably benign 0.21
R4836:Ppp1r12b UTSW 1 134955733 missense probably benign 0.21
R4843:Ppp1r12b UTSW 1 134955733 missense probably benign 0.21
R4854:Ppp1r12b UTSW 1 134873951 missense probably damaging 1.00
R4870:Ppp1r12b UTSW 1 134949033 missense probably benign 0.00
R4881:Ppp1r12b UTSW 1 134955733 missense probably benign 0.21
R5024:Ppp1r12b UTSW 1 134955733 missense probably benign 0.21
R5054:Ppp1r12b UTSW 1 134955733 missense probably benign 0.21
R5055:Ppp1r12b UTSW 1 134955733 missense probably benign 0.21
R5056:Ppp1r12b UTSW 1 134834392 intron probably benign
R5056:Ppp1r12b UTSW 1 134955733 missense probably benign 0.21
R5158:Ppp1r12b UTSW 1 134886428 missense probably damaging 1.00
R5599:Ppp1r12b UTSW 1 134865907 missense probably benign 0.08
R5771:Ppp1r12b UTSW 1 134773424 critical splice donor site probably null
R5775:Ppp1r12b UTSW 1 134876042 missense probably benign
R5872:Ppp1r12b UTSW 1 134776406 missense probably benign 0.03
R5896:Ppp1r12b UTSW 1 134765981 missense probably damaging 1.00
R6060:Ppp1r12b UTSW 1 134955524 missense possibly damaging 0.82
R6129:Ppp1r12b UTSW 1 134892252 nonsense probably null
R6369:Ppp1r12b UTSW 1 134886542 missense possibly damaging 0.93
R6868:Ppp1r12b UTSW 1 134886438 missense probably benign 0.00
R7681:Ppp1r12b UTSW 1 134865935 missense probably benign 0.02
R7940:Ppp1r12b UTSW 1 134876055 missense probably benign 0.00
R8057:Ppp1r12b UTSW 1 134955616 missense probably damaging 1.00
R8070:Ppp1r12b UTSW 1 134876069 missense probably benign 0.06
R8134:Ppp1r12b UTSW 1 134886542 missense possibly damaging 0.93
R8147:Ppp1r12b UTSW 1 134873942 missense possibly damaging 0.78
R8224:Ppp1r12b UTSW 1 134902462 missense probably benign 0.19
R8270:Ppp1r12b UTSW 1 134876148 missense probably benign 0.37
R8304:Ppp1r12b UTSW 1 134896363 missense possibly damaging 0.65
X0022:Ppp1r12b UTSW 1 134835873 missense probably benign 0.00
X0027:Ppp1r12b UTSW 1 134896354 missense probably damaging 1.00
Posted On2013-10-07