Incidental Mutation 'R0087:Plbd2'
ID 19943
Institutional Source Beutler Lab
Gene Symbol Plbd2
Ensembl Gene ENSMUSG00000029598
Gene Name phospholipase B domain containing 2
Synonyms p76, 1300012G16Rik, 66.3 kDa
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0087 (G1)
Quality Score 215
Status Validated (trace)
Chromosome 5
Chromosomal Location 120621958-120641688 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 120632550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 151 (E151*)
Ref Sequence ENSEMBL: ENSMUSP00000031597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031597]
AlphaFold Q3TCN2
PDB Structure Crystal structure of the lysosomal 66.3 kDa protein from mouse solved by S-SAD [X-RAY DIFFRACTION]
Two chain form of the 66.3 kDa protein at 1.8 Angstroem [X-RAY DIFFRACTION]
Two chain form of the 66.3 kDa protein from mouse lacking the linker peptide [X-RAY DIFFRACTION]
One chain form of the 66.3 kDa protein [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000031597
AA Change: E151*
SMART Domains Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: E151*

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Phospholip_B 62 591 2.9e-179 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151361
Meta Mutation Damage Score 0.9706 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging Het
Other mutations in Plbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Plbd2 APN 5 120,623,875 (GRCm39) missense possibly damaging 0.57
IGL01635:Plbd2 APN 5 120,637,114 (GRCm39) missense probably damaging 1.00
IGL02017:Plbd2 APN 5 120,626,623 (GRCm39) missense probably damaging 1.00
IGL02040:Plbd2 APN 5 120,625,507 (GRCm39) missense probably damaging 1.00
IGL03094:Plbd2 APN 5 120,624,845 (GRCm39) missense probably damaging 1.00
IGL03124:Plbd2 APN 5 120,631,142 (GRCm39) missense possibly damaging 0.68
R0077:Plbd2 UTSW 5 120,624,104 (GRCm39) critical splice donor site probably null
R0294:Plbd2 UTSW 5 120,625,514 (GRCm39) splice site probably null
R1682:Plbd2 UTSW 5 120,623,849 (GRCm39) missense probably damaging 0.97
R1818:Plbd2 UTSW 5 120,625,574 (GRCm39) splice site probably null
R3796:Plbd2 UTSW 5 120,630,933 (GRCm39) missense probably damaging 1.00
R4935:Plbd2 UTSW 5 120,624,786 (GRCm39) missense possibly damaging 0.95
R5082:Plbd2 UTSW 5 120,629,249 (GRCm39) nonsense probably null
R5420:Plbd2 UTSW 5 120,632,547 (GRCm39) missense probably damaging 0.98
R5441:Plbd2 UTSW 5 120,637,147 (GRCm39) missense probably benign
R5582:Plbd2 UTSW 5 120,631,171 (GRCm39) missense probably benign 0.00
R5643:Plbd2 UTSW 5 120,631,231 (GRCm39) splice site probably null
R6831:Plbd2 UTSW 5 120,631,131 (GRCm39) missense probably benign 0.03
R6859:Plbd2 UTSW 5 120,641,407 (GRCm39) missense probably benign
R7343:Plbd2 UTSW 5 120,631,214 (GRCm39) missense probably damaging 1.00
R7436:Plbd2 UTSW 5 120,624,861 (GRCm39) missense probably damaging 1.00
R7779:Plbd2 UTSW 5 120,625,743 (GRCm39) missense probably damaging 1.00
R7789:Plbd2 UTSW 5 120,623,819 (GRCm39) missense probably damaging 1.00
R8237:Plbd2 UTSW 5 120,637,114 (GRCm39) missense probably damaging 1.00
R8862:Plbd2 UTSW 5 120,624,728 (GRCm39) missense probably damaging 1.00
R8875:Plbd2 UTSW 5 120,637,121 (GRCm39) missense probably damaging 1.00
R8920:Plbd2 UTSW 5 120,630,915 (GRCm39) missense probably damaging 1.00
R9235:Plbd2 UTSW 5 120,626,554 (GRCm39) missense probably benign
R9475:Plbd2 UTSW 5 120,632,445 (GRCm39) nonsense probably null
Z1177:Plbd2 UTSW 5 120,641,664 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CTGACTGCACAGGAGACAAGTACAC -3'
(R):5'- CCCATGTTTGATGGCAGAGCACAC -3'

Sequencing Primer
(F):5'- CAGGAGACAAGTACACTCAAAAG -3'
(R):5'- CGGTGCAGTGTAATCTAGACC -3'
Posted On 2013-04-11