Incidental Mutation 'R7789:Plbd2'
ID 599725
Institutional Source Beutler Lab
Gene Symbol Plbd2
Ensembl Gene ENSMUSG00000029598
Gene Name phospholipase B domain containing 2
Synonyms 66.3 kDa, p76, 1300012G16Rik
MMRRC Submission 045845-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R7789 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120483282-120503625 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120485754 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 568 (S568G)
Ref Sequence ENSEMBL: ENSMUSP00000031597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031597] [ENSMUST00000066540] [ENSMUST00000201684]
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: S568G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031597
Gene: ENSMUSG00000029598
AA Change: S568G

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Phospholip_B 62 591 2.9e-179 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066540
SMART Domains Protein: ENSMUSP00000064849
Gene: ENSMUSG00000029597

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201684
SMART Domains Protein: ENSMUSP00000143838
Gene: ENSMUSG00000029597

DomainStartEndE-ValueType
Pfam:PALP 5 304 1.5e-76 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,864,311 (GRCm38) E163K probably benign Het
Adam34 T A 8: 43,652,451 (GRCm38) R52S probably benign Het
Adcy8 A T 15: 64,871,774 (GRCm38) C328* probably null Het
Ankrd26 G T 6: 118,527,799 (GRCm38) S716R possibly damaging Het
Ankrd26 G T 6: 118,527,798 (GRCm38) H717N probably damaging Het
Ankrd40 C A 11: 94,334,709 (GRCm38) P189T probably damaging Het
Anln A G 9: 22,352,037 (GRCm38) S113P Het
Arid5b C T 10: 68,098,587 (GRCm38) G495E probably benign Het
Asxl1 C T 2: 153,400,023 (GRCm38) T832I probably benign Het
Bicd2 C T 13: 49,379,659 (GRCm38) R574C probably damaging Het
Boll T C 1: 55,360,667 (GRCm38) probably null Het
Casr A G 16: 36,495,291 (GRCm38) F806L probably damaging Het
Casz1 C A 4: 148,929,406 (GRCm38) N142K probably benign Het
Cbl C T 9: 44,163,467 (GRCm38) D433N probably damaging Het
Ceacam14 T A 7: 17,814,171 (GRCm38) V62D probably damaging Het
Chst10 T C 1: 38,884,451 (GRCm38) N18S probably benign Het
Cyp2j6 C T 4: 96,545,716 (GRCm38) R119H probably benign Het
Cyp4a14 C G 4: 115,494,910 (GRCm38) V102L probably benign Het
Dnajb3 A T 1: 88,205,677 (GRCm38) M1K probably null Het
Dnajc6 A T 4: 101,618,532 (GRCm38) K534M possibly damaging Het
Dnase2a T C 8: 84,908,876 (GRCm38) probably null Het
Dock10 A G 1: 80,559,213 (GRCm38) I985T possibly damaging Het
Emsy G T 7: 98,621,489 (GRCm38) P436Q probably damaging Het
Enpp1 A T 10: 24,654,083 (GRCm38) probably null Het
Erc1 T A 6: 119,773,709 (GRCm38) R353* probably null Het
Fam196b T A 11: 34,402,537 (GRCm38) M193K probably benign Het
Fbn2 T A 18: 58,039,313 (GRCm38) D2140V probably benign Het
Fgfr1 T A 8: 25,562,313 (GRCm38) Y218* probably null Het
Fhod1 C T 8: 105,330,108 (GRCm38) R1045H probably damaging Het
Focad G T 4: 88,229,406 (GRCm38) L427F unknown Het
Gbf1 T A 19: 46,254,002 (GRCm38) L144M probably damaging Het
Glmn T G 5: 107,549,075 (GRCm38) N592T probably benign Het
Golgb1 C G 16: 36,875,399 (GRCm38) P87A unknown Het
H2bfm G A X: 136,927,722 (GRCm38) R120K unknown Het
Itga9 T G 9: 118,658,496 (GRCm38) F216V possibly damaging Het
Klhl18 T C 9: 110,439,008 (GRCm38) D149G unknown Het
Lcat C T 8: 105,942,225 (GRCm38) V114M probably benign Het
Lrrc8c C A 5: 105,607,200 (GRCm38) N280K probably damaging Het
Mettl8 T C 2: 70,966,462 (GRCm38) Y283C probably damaging Het
Mgat4a A T 1: 37,490,279 (GRCm38) I173K probably damaging Het
Mmp1a T C 9: 7,475,265 (GRCm38) V345A possibly damaging Het
Mok T A 12: 110,811,827 (GRCm38) H215L probably damaging Het
Mphosph9 C G 5: 124,315,587 (GRCm38) E221Q probably damaging Het
Muc4 C G 16: 32,753,930 (GRCm38) Q1269E probably benign Het
Mug1 C A 6: 121,861,220 (GRCm38) H470N possibly damaging Het
Myom1 A G 17: 71,117,436 (GRCm38) T1525A probably benign Het
Nap1l1 C T 10: 111,490,456 (GRCm38) S143L probably benign Het
Olfr366 C T 2: 37,219,660 (GRCm38) T57I probably benign Het
Olfr531 A T 7: 140,400,697 (GRCm38) Y116* probably null Het
Olfr646 T A 7: 104,106,988 (GRCm38) S236R probably damaging Het
Olfr847 G T 9: 19,375,065 (GRCm38) T272K probably benign Het
Plxna4 T A 6: 32,206,233 (GRCm38) probably null Het
Plxnc1 T A 10: 94,794,477 (GRCm38) E1520V probably damaging Het
Ppil3 G A 1: 58,434,379 (GRCm38) T104I possibly damaging Het
Ptprm A T 17: 67,095,539 (GRCm38) V118E probably damaging Het
Rimbp2 T C 5: 128,774,335 (GRCm38) D849G probably damaging Het
Rnf213 T C 11: 119,470,219 (GRCm38) probably null Het
Sema3f T A 9: 107,705,432 (GRCm38) K37N probably benign Het
Sh3glb1 G T 3: 144,692,131 (GRCm38) probably null Het
Sh3rf3 A G 10: 59,086,815 (GRCm38) D571G probably benign Het
Sipa1l3 T C 7: 29,377,725 (GRCm38) Y874C probably damaging Het
Smchd1 G A 17: 71,475,301 (GRCm38) probably benign Het
Snrnp70 A T 7: 45,376,621 (GRCm38) Y441* probably null Het
Ssrp1 C T 2: 85,041,181 (GRCm38) R316W probably damaging Het
Syt10 A T 15: 89,826,898 (GRCm38) V144E probably damaging Het
Tdrd12 A G 7: 35,488,692 (GRCm38) L562P Het
Trim68 T C 7: 102,684,469 (GRCm38) D2G possibly damaging Het
Trub2 T A 2: 29,777,908 (GRCm38) H240L probably damaging Het
Tssc4 A G 7: 143,069,778 (GRCm38) probably null Het
Usp7 T A 16: 8,698,811 (GRCm38) Q539L probably benign Het
Vmn2r17 T A 5: 109,452,965 (GRCm38) C710S possibly damaging Het
Vmn2r99 G T 17: 19,393,817 (GRCm38) V600F possibly damaging Het
Vps13d C T 4: 145,100,065 (GRCm38) V2879M Het
Vrtn T A 12: 84,650,306 (GRCm38) M610K probably benign Het
Xpo4 T C 14: 57,613,349 (GRCm38) E366G probably benign Het
Zyg11a G A 4: 108,183,648 (GRCm38) P703S probably damaging Het
Other mutations in Plbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Plbd2 APN 5 120,485,810 (GRCm38) missense possibly damaging 0.57
IGL01635:Plbd2 APN 5 120,499,049 (GRCm38) missense probably damaging 1.00
IGL02017:Plbd2 APN 5 120,488,558 (GRCm38) missense probably damaging 1.00
IGL02040:Plbd2 APN 5 120,487,442 (GRCm38) missense probably damaging 1.00
IGL03094:Plbd2 APN 5 120,486,780 (GRCm38) missense probably damaging 1.00
IGL03124:Plbd2 APN 5 120,493,077 (GRCm38) missense possibly damaging 0.68
R0077:Plbd2 UTSW 5 120,486,039 (GRCm38) critical splice donor site probably null
R0087:Plbd2 UTSW 5 120,494,485 (GRCm38) nonsense probably null
R0294:Plbd2 UTSW 5 120,487,449 (GRCm38) splice site probably null
R1682:Plbd2 UTSW 5 120,485,784 (GRCm38) missense probably damaging 0.97
R1818:Plbd2 UTSW 5 120,487,509 (GRCm38) splice site probably null
R3796:Plbd2 UTSW 5 120,492,868 (GRCm38) missense probably damaging 1.00
R4935:Plbd2 UTSW 5 120,486,721 (GRCm38) missense possibly damaging 0.95
R5082:Plbd2 UTSW 5 120,491,184 (GRCm38) nonsense probably null
R5420:Plbd2 UTSW 5 120,494,482 (GRCm38) missense probably damaging 0.98
R5441:Plbd2 UTSW 5 120,499,082 (GRCm38) missense probably benign
R5582:Plbd2 UTSW 5 120,493,106 (GRCm38) missense probably benign 0.00
R5643:Plbd2 UTSW 5 120,493,166 (GRCm38) splice site probably null
R6831:Plbd2 UTSW 5 120,493,066 (GRCm38) missense probably benign 0.03
R6859:Plbd2 UTSW 5 120,503,342 (GRCm38) missense probably benign
R7343:Plbd2 UTSW 5 120,493,149 (GRCm38) missense probably damaging 1.00
R7436:Plbd2 UTSW 5 120,486,796 (GRCm38) missense probably damaging 1.00
R7779:Plbd2 UTSW 5 120,487,678 (GRCm38) missense probably damaging 1.00
R8237:Plbd2 UTSW 5 120,499,049 (GRCm38) missense probably damaging 1.00
R8862:Plbd2 UTSW 5 120,486,663 (GRCm38) missense probably damaging 1.00
R8875:Plbd2 UTSW 5 120,499,056 (GRCm38) missense probably damaging 1.00
R8920:Plbd2 UTSW 5 120,492,850 (GRCm38) missense probably damaging 1.00
R9235:Plbd2 UTSW 5 120,488,489 (GRCm38) missense probably benign
R9475:Plbd2 UTSW 5 120,494,380 (GRCm38) nonsense probably null
Z1177:Plbd2 UTSW 5 120,503,599 (GRCm38) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CTAGTGAAGACAGAAGCCCG -3'
(R):5'- TAAGCCAGTTGTCACATGCCC -3'

Sequencing Primer
(F):5'- CAGAAGCCCGAGGGGTG -3'
(R):5'- ATATCACTTTGGGGTCAGCTTCAG -3'
Posted On 2019-11-26