Incidental Mutation 'R5582:Plbd2'
ID 438497
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 043136-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5582 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120621958-120641688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120631171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 202 (E202G)
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 benign
Transcript: ENSMUST00000031597
AA Change: E202G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: E202G

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 0.0795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,586,639 (GRCm39) probably null Het
Agxt2 A G 15: 10,399,245 (GRCm39) D444G probably damaging Het
Aldh1b1 G T 4: 45,802,750 (GRCm39) R96L probably damaging Het
Ank2 T C 3: 126,739,954 (GRCm39) probably benign Het
Apob A G 12: 8,060,788 (GRCm39) Y3090C probably damaging Het
Bbx A G 16: 50,043,719 (GRCm39) S647P probably damaging Het
Brinp2 T C 1: 158,076,979 (GRCm39) Y372C probably damaging Het
Btaf1 T C 19: 36,965,573 (GRCm39) probably null Het
Cdk5rap1 T A 2: 154,187,894 (GRCm39) E477D probably benign Het
Cfap65 G A 1: 74,946,677 (GRCm39) probably benign Het
Chdh A G 14: 29,758,816 (GRCm39) Y587C probably damaging Het
Chek2 T C 5: 111,015,901 (GRCm39) V472A probably damaging Het
Clasrp A C 7: 19,320,781 (GRCm39) I326S probably damaging Het
Clic6 A T 16: 92,296,342 (GRCm39) Q334L possibly damaging Het
Cyp2d11 A T 15: 82,276,319 (GRCm39) probably null Het
Entpd7 T C 19: 43,693,433 (GRCm39) I171T probably damaging Het
Fosl1 T C 19: 5,505,295 (GRCm39) probably benign Het
Gm6124 A G 7: 38,869,622 (GRCm39) noncoding transcript Het
H3f3a A T 1: 180,637,650 (GRCm39) probably benign Het
Hs1bp3 AGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGAGGAGGAGGAGGAGGAGGAGGAGG 12: 8,374,048 (GRCm39) probably benign Het
Idh2 CCAGGGC CC 7: 79,748,087 (GRCm39) probably null Het
Igkv3-7 A G 6: 70,584,990 (GRCm39) Y110C probably damaging Het
Ints9 C T 14: 65,266,345 (GRCm39) T399M possibly damaging Het
Kctd19 G A 8: 106,135,075 (GRCm39) T62M probably damaging Het
Lsmem1 A G 12: 40,230,643 (GRCm39) probably null Het
Obscn T C 11: 58,990,802 (GRCm39) probably null Het
Or11h23 T C 14: 50,948,425 (GRCm39) Y213H probably damaging Het
Or1j12 T C 2: 36,343,233 (GRCm39) I212T probably benign Het
Otop3 T A 11: 115,230,165 (GRCm39) M14K unknown Het
Pibf1 C T 14: 99,374,566 (GRCm39) A335V possibly damaging Het
Pkd1l2 A T 8: 117,767,522 (GRCm39) L1256* probably null Het
Ppp1r37 A G 7: 19,266,219 (GRCm39) S516P probably damaging Het
Ppt2 G A 17: 34,836,373 (GRCm39) T229M probably damaging Het
Prr14 A T 7: 127,075,569 (GRCm39) I526F probably damaging Het
Scel T C 14: 103,820,575 (GRCm39) probably benign Het
Scn9a A T 2: 66,395,373 (GRCm39) probably benign Het
Senp6 T A 9: 79,997,158 (GRCm39) D57E possibly damaging Het
Setd5 T C 6: 113,091,886 (GRCm39) Y217H probably damaging Het
Sgcg T C 14: 61,462,754 (GRCm39) T198A probably damaging Het
Sipa1 C T 19: 5,704,729 (GRCm39) G622D probably benign Het
Slc27a2 C T 2: 126,406,610 (GRCm39) A98V probably damaging Het
Slitrk3 G T 3: 72,957,737 (GRCm39) P345Q probably benign Het
Slx4 T C 16: 3,803,652 (GRCm39) D1054G possibly damaging Het
Sned1 A T 1: 93,210,083 (GRCm39) T898S probably damaging Het
Tg C T 15: 66,565,284 (GRCm39) P1209S probably damaging Het
Tmem63b C A 17: 45,978,689 (GRCm39) V294L probably benign Het
Tnks G A 8: 35,408,015 (GRCm39) R238C probably benign Het
Tsn G A 1: 118,232,944 (GRCm39) T120I probably damaging Het
Txnrd1 T A 10: 82,731,814 (GRCm39) F479I possibly damaging Het
Ubr1 T C 2: 120,745,888 (GRCm39) M849V probably benign Het
Usp13 T C 3: 32,965,738 (GRCm39) S574P probably damaging Het
Vmn1r69 A G 7: 10,314,435 (GRCm39) Y20H probably damaging Het
Zfp1001 T C 2: 150,204,972 (GRCm39) probably benign Het
Zfp780b T A 7: 27,664,252 (GRCm39) N101I 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
R0087:Plbd2 UTSW 5 120,632,550 (GRCm39) nonsense 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
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'- TCACAACTGAGGCTTTCTGG -3'
(R):5'- CTTGGGATCAGCATGAGGATG -3'

Sequencing Primer
(F):5'- CAACTGAGGCTTTCTGGGTTCTG -3'
(R):5'- GTGTTTATTCACTGAAAGCAGGAG -3'
Posted On 2016-10-26