Incidental Mutation 'R5885:Pgbd5'
ID 456043
Institutional Source Beutler Lab
Gene Symbol Pgbd5
Ensembl Gene ENSMUSG00000050751
Gene Name piggyBac transposable element derived 5
Synonyms 2900019M05Rik
MMRRC Submission 043237-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5885 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 125095788-125161230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125111205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 162 (T162M)
Ref Sequence ENSEMBL: ENSMUSP00000120984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052580] [ENSMUST00000136892] [ENSMUST00000140012] [ENSMUST00000172566]
AlphaFold D3YZI9
Predicted Effect probably damaging
Transcript: ENSMUST00000052580
AA Change: T48M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054788
Gene: ENSMUSG00000050751
AA Change: T48M

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 6 372 5e-86 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136892
AA Change: T48M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123265
Gene: ENSMUSG00000050751
AA Change: T48M

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 6 372 5e-86 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140012
AA Change: T162M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120984
Gene: ENSMUSG00000050751
AA Change: T162M

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
low complexity region 47 60 N/A INTRINSIC
Pfam:DDE_Tnp_1_7 120 486 5.6e-90 PFAM
low complexity region 506 517 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172566
AA Change: T71M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133560
Gene: ENSMUSG00000050751
AA Change: T71M

DomainStartEndE-ValueType
Pfam:DDE_Tnp_1_7 29 395 2e-86 PFAM
low complexity region 415 426 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot10 T A 15: 20,666,190 (GRCm39) M184L probably benign Het
Adgrv1 A T 13: 81,572,390 (GRCm39) S4924T probably benign Het
Atp10a T A 7: 58,463,548 (GRCm39) M1027K possibly damaging Het
Axl T A 7: 25,466,277 (GRCm39) K510I probably damaging Het
Azi2 T A 9: 117,876,628 (GRCm39) I48N probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Dnah3 T C 7: 119,668,927 (GRCm39) I720V probably benign Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Epas1 A G 17: 87,134,972 (GRCm39) D535G probably damaging Het
Fam47e A G 5: 92,713,827 (GRCm39) K152R probably damaging Het
Fbxl3 A T 14: 103,320,667 (GRCm39) I260K probably benign Het
Fcgr3 A G 1: 170,885,280 (GRCm39) V115A probably damaging Het
Fgf12 G T 16: 28,217,046 (GRCm39) D98E possibly damaging Het
Flt3 T C 5: 147,286,439 (GRCm39) T716A probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gpr141b A T 13: 19,913,519 (GRCm39) noncoding transcript Het
Grin2a A G 16: 9,579,769 (GRCm39) Y165H possibly damaging Het
Ifna4 T A 4: 88,760,599 (GRCm39) W168R probably damaging Het
Itga11 A G 9: 62,670,132 (GRCm39) Y752C probably damaging Het
Khdrbs3 A G 15: 68,896,547 (GRCm39) probably null Het
Kif24 A T 4: 41,423,463 (GRCm39) Y263N probably damaging Het
Lama5 G T 2: 179,843,624 (GRCm39) T441K probably damaging Het
Lrrc47 T A 4: 154,100,429 (GRCm39) V335D possibly damaging Het
Map1b A T 13: 99,566,589 (GRCm39) I2044N unknown Het
Mast2 C T 4: 116,172,035 (GRCm39) G638S probably damaging Het
Myo9a T C 9: 59,778,503 (GRCm39) S1420P probably benign Het
Neurl2 T C 2: 164,674,811 (GRCm39) T184A probably damaging Het
Nfatc3 A G 8: 106,822,944 (GRCm39) I577V probably benign Het
Nipal3 A T 4: 135,199,288 (GRCm39) V186E probably damaging Het
Plod2 T A 9: 92,488,709 (GRCm39) probably null Het
Psg22 T A 7: 18,452,257 (GRCm39) L19Q probably damaging Het
Psg27 T A 7: 18,295,711 (GRCm39) N245Y probably damaging Het
Ptprc T A 1: 138,016,246 (GRCm39) I539F probably damaging Het
Rad1 T C 15: 10,488,143 (GRCm39) L59P probably damaging Het
Slc2a9 G A 5: 38,598,017 (GRCm39) R137W probably damaging Het
Spats2l C T 1: 57,985,321 (GRCm39) A458V probably damaging Het
Sptbn5 A G 2: 119,907,144 (GRCm39) probably benign Het
Stox1 C A 10: 62,500,627 (GRCm39) L644F probably damaging Het
Sv2b C T 7: 74,806,501 (GRCm39) G213E probably damaging Het
Tas2r121 T G 6: 132,677,254 (GRCm39) L239F probably damaging Het
Trrap T A 5: 144,731,603 (GRCm39) V854E probably damaging Het
Vmn2r97 A G 17: 19,168,035 (GRCm39) Y763C possibly damaging Het
Xkr6 T A 14: 63,844,360 (GRCm39) W128R probably damaging Het
Other mutations in Pgbd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Pgbd5 APN 8 125,110,941 (GRCm39) missense probably benign 0.00
IGL01669:Pgbd5 APN 8 125,101,138 (GRCm39) missense possibly damaging 0.86
IGL01759:Pgbd5 APN 8 125,111,118 (GRCm39) missense probably damaging 1.00
IGL01762:Pgbd5 APN 8 125,097,349 (GRCm39) missense probably damaging 1.00
IGL02398:Pgbd5 APN 8 125,111,257 (GRCm39) missense probably damaging 1.00
R0348:Pgbd5 UTSW 8 125,160,771 (GRCm39) missense probably damaging 0.98
R0702:Pgbd5 UTSW 8 125,100,994 (GRCm39) missense probably benign 0.21
R0981:Pgbd5 UTSW 8 125,111,032 (GRCm39) nonsense probably null
R1259:Pgbd5 UTSW 8 125,097,324 (GRCm39) missense probably damaging 0.98
R1598:Pgbd5 UTSW 8 125,101,026 (GRCm39) missense probably benign 0.26
R1609:Pgbd5 UTSW 8 125,160,750 (GRCm39) missense probably benign 0.00
R1742:Pgbd5 UTSW 8 125,107,046 (GRCm39) missense probably damaging 1.00
R1938:Pgbd5 UTSW 8 125,100,988 (GRCm39) nonsense probably null
R1985:Pgbd5 UTSW 8 125,097,331 (GRCm39) missense probably benign 0.00
R2169:Pgbd5 UTSW 8 125,111,363 (GRCm39) critical splice acceptor site probably null
R4573:Pgbd5 UTSW 8 125,102,966 (GRCm39) nonsense probably null
R4917:Pgbd5 UTSW 8 125,097,305 (GRCm39) missense probably benign 0.14
R4918:Pgbd5 UTSW 8 125,097,305 (GRCm39) missense probably benign 0.14
R4946:Pgbd5 UTSW 8 125,097,324 (GRCm39) missense possibly damaging 0.93
R5409:Pgbd5 UTSW 8 125,098,619 (GRCm39) missense probably damaging 1.00
R5946:Pgbd5 UTSW 8 125,101,056 (GRCm39) missense possibly damaging 0.83
R6907:Pgbd5 UTSW 8 125,107,021 (GRCm39) missense probably damaging 0.97
R6986:Pgbd5 UTSW 8 125,111,212 (GRCm39) missense possibly damaging 0.56
R7144:Pgbd5 UTSW 8 125,101,056 (GRCm39) missense possibly damaging 0.83
R7342:Pgbd5 UTSW 8 125,160,709 (GRCm39) missense probably benign 0.36
R7475:Pgbd5 UTSW 8 125,160,750 (GRCm39) missense probably benign 0.00
R8934:Pgbd5 UTSW 8 125,110,998 (GRCm39) missense possibly damaging 0.93
R8960:Pgbd5 UTSW 8 125,111,175 (GRCm39) missense probably benign 0.04
R9238:Pgbd5 UTSW 8 125,106,930 (GRCm39) missense probably damaging 0.96
X0067:Pgbd5 UTSW 8 125,098,651 (GRCm39) missense probably damaging 1.00
Z1188:Pgbd5 UTSW 8 125,106,955 (GRCm39) missense probably damaging 1.00
Z1190:Pgbd5 UTSW 8 125,106,955 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGACCTTGTAGAGCCCATG -3'
(R):5'- GATTTTGGACGTGAGCGCTC -3'

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