Incidental Mutation 'R6657:Plbd1'
ID 526661
Institutional Source Beutler Lab
Gene Symbol Plbd1
Ensembl Gene ENSMUSG00000030214
Gene Name phospholipase B domain containing 1
Synonyms 1100001H23Rik
MMRRC Submission 044778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6657 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 136589068-136638926 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136594250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 333 (M333K)
Ref Sequence ENSEMBL: ENSMUSP00000032336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032336]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032336
AA Change: M333K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: M333K

DomainStartEndE-ValueType
Pfam:Phospholip_B 16 545 3.7e-198 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204462
Meta Mutation Damage Score 0.7805 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
MGI Phenotype PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T G 8: 106,435,450 (GRCm39) L36R probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Akr1b7 A C 6: 34,393,135 (GRCm39) D106A probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Chst5 C T 8: 112,616,906 (GRCm39) R238Q probably benign Het
Cpxm2 T C 7: 131,650,806 (GRCm39) Y618C probably damaging Het
Csnk1d T C 11: 120,855,820 (GRCm39) E405G possibly damaging Het
Ctsh A T 9: 89,942,555 (GRCm39) M37L probably benign Het
Eml5 T G 12: 98,757,664 (GRCm39) I1843L probably damaging Het
Ep400 C A 5: 110,841,411 (GRCm39) probably benign Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Gpc5 A G 14: 115,607,610 (GRCm39) H404R probably benign Het
Hyal6 A G 6: 24,734,757 (GRCm39) D230G possibly damaging Het
Itga5 T C 15: 103,259,222 (GRCm39) D735G probably damaging Het
Kansl2 T A 15: 98,422,551 (GRCm39) Q339L possibly damaging Het
Lrp4 T A 2: 91,322,398 (GRCm39) M1078K probably benign Het
Mmp24 A T 2: 155,640,099 (GRCm39) Y143F probably damaging Het
Mroh7 A T 4: 106,559,697 (GRCm39) C743* probably null Het
Myh14 T C 7: 44,287,270 (GRCm39) N618D probably damaging Het
Myo19 A T 11: 84,788,022 (GRCm39) M324L probably benign Het
Nectin2 T C 7: 19,472,065 (GRCm39) N108S probably benign Het
Nrg2 A G 18: 36,329,642 (GRCm39) I191T probably damaging Het
Odf4 T C 11: 68,817,638 (GRCm39) N18D probably benign Het
Or5aq6 T A 2: 86,923,403 (GRCm39) I113F probably benign Het
Pcsk2 T G 2: 143,532,286 (GRCm39) L145V probably damaging Het
Pdzrn3 C A 6: 101,127,983 (GRCm39) Q894H probably benign Het
Pfpl G A 19: 12,407,290 (GRCm39) V514I probably benign Het
Plec A T 15: 76,062,356 (GRCm39) M2554K possibly damaging Het
Psmb5 A G 14: 54,851,840 (GRCm39) Y115H possibly damaging Het
Rictor A G 15: 6,788,977 (GRCm39) N198D possibly damaging Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Sec16a C T 2: 26,315,876 (GRCm39) W262* probably null Het
Sfmbt1 A G 14: 30,488,053 (GRCm39) D8G possibly damaging Het
Sptbn5 T G 2: 119,906,881 (GRCm39) probably benign Het
Sqor A G 2: 122,649,514 (GRCm39) D139G possibly damaging Het
Sugt1 A T 14: 79,844,701 (GRCm39) T139S probably benign Het
Tcp11 G A 17: 28,290,646 (GRCm39) P159S probably damaging Het
Tmem262 A G 19: 6,130,542 (GRCm39) T89A possibly damaging Het
Tnfaip6 C A 2: 51,933,795 (GRCm39) T50N probably damaging Het
Ttll9 T C 2: 152,826,182 (GRCm39) Y131H probably damaging Het
Vmn1r173 T A 7: 23,402,320 (GRCm39) M185K probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r52 G A 7: 9,893,090 (GRCm39) T683I probably damaging Het
Vps53 A T 11: 76,025,253 (GRCm39) I197N probably damaging Het
Washc4 T A 10: 83,394,482 (GRCm39) F269L possibly damaging Het
Wdfy4 C T 14: 32,769,208 (GRCm39) V2086M possibly damaging Het
Zfp592 A T 7: 80,675,234 (GRCm39) T733S possibly damaging Het
Zfp599 A G 9: 22,161,538 (GRCm39) F209S probably damaging Het
Other mutations in Plbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Plbd1 APN 6 136,611,468 (GRCm39) missense probably benign
IGL02131:Plbd1 APN 6 136,638,681 (GRCm39) utr 5 prime probably benign
R0355:Plbd1 UTSW 6 136,618,165 (GRCm39) missense possibly damaging 0.71
R0762:Plbd1 UTSW 6 136,618,145 (GRCm39) missense probably damaging 1.00
R1019:Plbd1 UTSW 6 136,628,903 (GRCm39) missense probably benign 0.03
R1456:Plbd1 UTSW 6 136,590,814 (GRCm39) missense probably benign 0.12
R1607:Plbd1 UTSW 6 136,589,304 (GRCm39) missense probably benign 0.04
R1640:Plbd1 UTSW 6 136,617,123 (GRCm39) missense probably benign 0.00
R2166:Plbd1 UTSW 6 136,590,788 (GRCm39) critical splice donor site probably null
R2909:Plbd1 UTSW 6 136,611,572 (GRCm39) missense probably damaging 1.00
R4494:Plbd1 UTSW 6 136,590,856 (GRCm39) missense probably damaging 1.00
R4529:Plbd1 UTSW 6 136,628,823 (GRCm39) missense probably benign 0.04
R4530:Plbd1 UTSW 6 136,628,823 (GRCm39) missense probably benign 0.04
R5206:Plbd1 UTSW 6 136,618,154 (GRCm39) missense probably benign 0.17
R5272:Plbd1 UTSW 6 136,617,156 (GRCm39) missense probably damaging 1.00
R5522:Plbd1 UTSW 6 136,594,298 (GRCm39) missense probably benign 0.31
R5649:Plbd1 UTSW 6 136,593,987 (GRCm39) missense probably benign 0.01
R5879:Plbd1 UTSW 6 136,611,503 (GRCm39) missense probably damaging 1.00
R5940:Plbd1 UTSW 6 136,590,719 (GRCm39) intron probably benign
R6311:Plbd1 UTSW 6 136,590,945 (GRCm39) missense probably benign 0.09
R6590:Plbd1 UTSW 6 136,612,598 (GRCm39) missense probably damaging 1.00
R6690:Plbd1 UTSW 6 136,612,598 (GRCm39) missense probably damaging 1.00
R6842:Plbd1 UTSW 6 136,612,612 (GRCm39) missense probably benign 0.05
R6938:Plbd1 UTSW 6 136,593,985 (GRCm39) missense probably benign 0.00
R7000:Plbd1 UTSW 6 136,589,836 (GRCm39) missense probably benign 0.21
R7214:Plbd1 UTSW 6 136,589,829 (GRCm39) missense probably damaging 1.00
R7654:Plbd1 UTSW 6 136,628,864 (GRCm39) missense possibly damaging 0.47
R7744:Plbd1 UTSW 6 136,594,244 (GRCm39) missense probably benign 0.00
R7870:Plbd1 UTSW 6 136,594,326 (GRCm39) missense possibly damaging 0.81
R9275:Plbd1 UTSW 6 136,594,286 (GRCm39) missense probably damaging 0.99
R9443:Plbd1 UTSW 6 136,611,555 (GRCm39) missense probably damaging 1.00
R9498:Plbd1 UTSW 6 136,589,244 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- GGCTCCTATTGATGGTCACC -3'
(R):5'- CGATGACCTGTGCGTTTGTC -3'

Sequencing Primer
(F):5'- GTACCTGAAATGTTGGAAGACAC -3'
(R):5'- CTTCTTCTAGGGTTCTTGGAGTCTC -3'
Posted On 2018-07-23