Incidental Mutation 'R3796:Plbd2'
ID 272758
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 040757-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R3796 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120621958-120641688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120630933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 224 (I224N)
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 damaging
Transcript: ENSMUST00000031597
AA Change: I224N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: I224N

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,489,662 (GRCm39) probably null Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Alppl2 A G 1: 87,016,076 (GRCm39) probably null Het
Armh3 A G 19: 45,910,049 (GRCm39) probably benign Het
Basp1 C A 15: 25,364,398 (GRCm39) probably benign Het
Clec14a G A 12: 58,314,695 (GRCm39) A309V probably benign Het
Clk2 A G 3: 89,082,996 (GRCm39) N424S probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Cwf19l1 A G 19: 44,103,006 (GRCm39) V403A probably damaging Het
Dnajc16 G T 4: 141,495,048 (GRCm39) D521E probably benign Het
Dnm2 T C 9: 21,416,783 (GRCm39) V772A probably benign Het
Dst G T 1: 34,220,996 (GRCm39) V2267F probably benign Het
Eif3d A G 15: 77,852,769 (GRCm39) F4S probably damaging Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Hmcn1 A G 1: 150,462,169 (GRCm39) Y5170H probably damaging Het
Kcna2 T A 3: 107,012,906 (GRCm39) L496I probably benign Het
Krt8 T C 15: 101,907,877 (GRCm39) I233V probably benign Het
Mfap1b A G 2: 121,304,386 (GRCm39) V3A probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Rab19 T C 6: 39,360,975 (GRCm39) V41A probably benign Het
Rrm1 T A 7: 102,114,910 (GRCm39) probably null Het
Sacs T C 14: 61,443,570 (GRCm39) V1872A possibly damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Shprh C T 10: 11,054,501 (GRCm39) L1037F possibly damaging Het
Slc24a3 A G 2: 145,458,601 (GRCm39) D527G probably damaging Het
Slc27a6 T C 18: 58,731,823 (GRCm39) probably benign Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Slc5a1 A G 5: 33,309,996 (GRCm39) D408G probably damaging Het
Spag6l A T 16: 16,580,916 (GRCm39) I477N probably damaging Het
Srgap1 A G 10: 121,883,037 (GRCm39) V21A probably benign Het
Trim7 A G 11: 48,736,497 (GRCm39) probably null Het
Trpa1 T C 1: 14,963,488 (GRCm39) N578S possibly damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zfp518a G T 19: 40,903,754 (GRCm39) V1228F 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
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'- AACTGCAGCCTGTACTTCTTG -3'
(R):5'- GGAGGTTCACCATCAAACCCTTG -3'

Sequencing Primer
(F):5'- GCCTGTACTTCTTGATGATGCGTAAC -3'
(R):5'- GTGACATGGCGCAAAGTA -3'
Posted On 2015-03-25