Incidental Mutation 'R8312:Plb1'
ID 641437
Institutional Source Beutler Lab
Gene Symbol Plb1
Ensembl Gene ENSMUSG00000029134
Gene Name phospholipase B1
Synonyms 4632413E21Rik, 4930433E17Rik, 4930539A06Rik
MMRRC Submission 067718-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R8312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 32390035-32521700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32485829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 871 (T871M)
Ref Sequence ENSEMBL: ENSMUSP00000098927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101376] [ENSMUST00000202220]
AlphaFold Q3TTY0
Predicted Effect probably damaging
Transcript: ENSMUST00000101376
AA Change: T871M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: T871M

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 57 69 N/A INTRINSIC
Pfam:Lipase_GDSL 398 672 4e-20 PFAM
Pfam:Lipase_GDSL 745 1019 1.7e-17 PFAM
Pfam:Lipase_GDSL 1101 1367 4.6e-15 PFAM
transmembrane domain 1420 1442 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202220
AA Change: T871M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: T871M

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 57 69 N/A INTRINSIC
Pfam:Lipase_GDSL 398 672 4e-20 PFAM
Pfam:Lipase_GDSL 745 1019 1.7e-17 PFAM
Pfam:Lipase_GDSL 1101 1367 4.6e-15 PFAM
transmembrane domain 1420 1442 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,662,190 (GRCm39) R23G probably damaging Het
Abraxas2 A G 7: 132,478,329 (GRCm39) Y163C probably damaging Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Agbl5 A G 5: 31,051,850 (GRCm39) E556G probably damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Arih2 A G 9: 108,521,473 (GRCm39) S2P probably damaging Het
C87436 T A 6: 86,434,813 (GRCm39) L387Q probably damaging Het
Card9 A T 2: 26,247,801 (GRCm39) Y183* probably null Het
Cdk14 T C 5: 4,944,141 (GRCm39) D394G probably benign Het
Cep135 C T 5: 76,784,746 (GRCm39) S947L probably damaging Het
Cfb T C 17: 35,077,121 (GRCm39) K505E probably benign Het
Cnot4 T A 6: 35,000,076 (GRCm39) D708V probably damaging Het
Col16a1 T A 4: 129,948,244 (GRCm39) L281M unknown Het
Col6a3 G T 1: 90,741,412 (GRCm39) D673E possibly damaging Het
Ctdnep1 G A 11: 69,879,527 (GRCm39) S150N probably benign Het
Fanca T A 8: 123,996,549 (GRCm39) probably benign Het
Fras1 T A 5: 96,736,050 (GRCm39) N548K probably benign Het
Gbp2b A G 3: 142,304,812 (GRCm39) M83V probably benign Het
Gbp2b C A 3: 142,304,815 (GRCm39) P84T probably damaging Het
Gli2 A T 1: 118,795,842 (GRCm39) probably benign Het
Greb1l A G 18: 10,511,587 (GRCm39) probably benign Het
Grn A C 11: 102,327,073 (GRCm39) K557T probably damaging Het
Hapln1 C T 13: 89,749,563 (GRCm39) A36V probably benign Het
Heg1 C T 16: 33,547,045 (GRCm39) R635W probably benign Het
Hivep1 C A 13: 42,308,653 (GRCm39) Q298K possibly damaging Het
Hmcn1 A G 1: 150,614,515 (GRCm39) I1297T probably damaging Het
Hp1bp3 T A 4: 137,950,750 (GRCm39) probably benign Het
Htr4 C G 18: 62,570,549 (GRCm39) F201L probably damaging Het
Insrr C G 3: 87,707,791 (GRCm39) Q78E possibly damaging Het
Itga6 A T 2: 71,686,297 (GRCm39) M1072L probably benign Het
Kdsr A G 1: 106,675,216 (GRCm39) probably null Het
Klhl7 T C 5: 24,339,965 (GRCm39) I149T probably damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Mag T C 7: 30,610,894 (GRCm39) Y116C probably damaging Het
Mast2 A G 4: 116,287,683 (GRCm39) S131P probably benign Het
Mlec C A 5: 115,288,266 (GRCm39) probably null Het
Mrap2 G A 9: 87,051,712 (GRCm39) probably null Het
Myo5b A G 18: 74,867,033 (GRCm39) K1395E probably damaging Het
Nipa2 G A 7: 55,583,050 (GRCm39) Q232* probably null Het
Nsd3 C T 8: 26,153,268 (GRCm39) T536M probably damaging Het
Oit3 T C 10: 59,274,632 (GRCm39) N56S probably benign Het
Or10p22 A G 10: 128,826,347 (GRCm39) T189A probably benign Het
Or13c7 A T 4: 43,854,461 (GRCm39) I51F probably benign Het
Or2m13 T C 16: 19,225,987 (GRCm39) M260V probably benign Het
Pax3 C T 1: 78,172,006 (GRCm39) R68Q probably damaging Het
Pcnx2 G T 8: 126,489,589 (GRCm39) H1668Q possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pkd1 A G 17: 24,786,102 (GRCm39) S463G probably benign Het
Prdx1 A G 4: 116,556,398 (GRCm39) D182G possibly damaging Het
Prkch T A 12: 73,807,358 (GRCm39) F593I noncoding transcript Het
Psrc1 C T 3: 108,293,673 (GRCm39) P194L probably benign Het
Ptp4a2 A T 4: 129,733,427 (GRCm39) I18L probably benign Het
Samd10 A T 2: 181,238,668 (GRCm39) L153H probably damaging Het
Shc3 T G 13: 51,596,754 (GRCm39) H423P probably damaging Het
Siae A T 9: 37,557,593 (GRCm39) I467F Het
Slc27a5 C T 7: 12,725,214 (GRCm39) R411Q probably damaging Het
Spata24 A G 18: 35,793,861 (GRCm39) I56T probably benign Het
Spns3 G A 11: 72,390,534 (GRCm39) T407M probably damaging Het
Spta1 G A 1: 174,067,777 (GRCm39) C2068Y probably damaging Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Thsd7a T C 6: 12,471,181 (GRCm39) D479G Het
Trhde T C 10: 114,249,192 (GRCm39) Y858C probably damaging Het
Ttn G A 2: 76,781,992 (GRCm39) R1057C unknown Het
Tulp4 G T 17: 6,257,333 (GRCm39) probably null Het
Tyk2 T C 9: 21,026,945 (GRCm39) T613A possibly damaging Het
Ugt2b37 T C 5: 87,390,799 (GRCm39) K356R probably benign Het
Vmn1r39 A G 6: 66,781,841 (GRCm39) V159A noncoding transcript Het
Vps35 A G 8: 86,001,498 (GRCm39) V440A possibly damaging Het
Zmym6 A G 4: 127,017,627 (GRCm39) N1136S probably damaging Het
Other mutations in Plb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Plb1 APN 5 32,503,080 (GRCm39) missense probably benign 0.00
IGL00542:Plb1 APN 5 32,427,178 (GRCm39) missense probably benign 0.02
IGL00835:Plb1 APN 5 32,521,516 (GRCm39) missense unknown
IGL00954:Plb1 APN 5 32,455,858 (GRCm39) splice site probably benign
IGL01350:Plb1 APN 5 32,474,408 (GRCm39) missense probably damaging 1.00
IGL01527:Plb1 APN 5 32,474,467 (GRCm39) missense probably damaging 1.00
IGL01599:Plb1 APN 5 32,499,888 (GRCm39) splice site probably benign
IGL01690:Plb1 APN 5 32,471,041 (GRCm39) missense probably damaging 1.00
IGL01813:Plb1 APN 5 32,486,429 (GRCm39) missense probably damaging 1.00
IGL01826:Plb1 APN 5 32,438,489 (GRCm39) missense probably damaging 0.99
IGL02263:Plb1 APN 5 32,478,692 (GRCm39) splice site probably benign
IGL02314:Plb1 APN 5 32,438,492 (GRCm39) missense possibly damaging 0.93
IGL02649:Plb1 APN 5 32,519,912 (GRCm39) missense probably benign 0.09
IGL02701:Plb1 APN 5 32,521,541 (GRCm39) missense unknown
IGL02704:Plb1 APN 5 32,511,011 (GRCm39) missense probably benign 0.03
IGL03170:Plb1 APN 5 32,442,246 (GRCm39) missense probably damaging 0.99
IGL03182:Plb1 APN 5 32,502,259 (GRCm39) splice site probably benign
IGL03326:Plb1 APN 5 32,488,671 (GRCm39) missense probably benign 0.00
IGL03046:Plb1 UTSW 5 32,485,756 (GRCm39) missense probably damaging 1.00
R0013:Plb1 UTSW 5 32,506,959 (GRCm39) splice site probably benign
R0013:Plb1 UTSW 5 32,506,959 (GRCm39) splice site probably benign
R0034:Plb1 UTSW 5 32,430,457 (GRCm39) missense probably benign 0.16
R0034:Plb1 UTSW 5 32,430,457 (GRCm39) missense probably benign 0.16
R0330:Plb1 UTSW 5 32,512,701 (GRCm39) missense probably damaging 1.00
R0413:Plb1 UTSW 5 32,512,706 (GRCm39) missense probably damaging 1.00
R0721:Plb1 UTSW 5 32,521,539 (GRCm39) missense unknown
R0735:Plb1 UTSW 5 32,442,264 (GRCm39) missense possibly damaging 0.90
R1423:Plb1 UTSW 5 32,450,601 (GRCm39) missense probably benign
R1428:Plb1 UTSW 5 32,422,256 (GRCm39) missense possibly damaging 0.82
R1469:Plb1 UTSW 5 32,512,170 (GRCm39) missense possibly damaging 0.46
R1469:Plb1 UTSW 5 32,512,170 (GRCm39) missense possibly damaging 0.46
R1694:Plb1 UTSW 5 32,474,621 (GRCm39) missense probably null 0.01
R1801:Plb1 UTSW 5 32,450,587 (GRCm39) missense probably damaging 1.00
R1804:Plb1 UTSW 5 32,511,041 (GRCm39) missense possibly damaging 0.91
R1900:Plb1 UTSW 5 32,444,191 (GRCm39) missense probably benign 0.44
R1903:Plb1 UTSW 5 32,448,582 (GRCm39) missense probably damaging 1.00
R2101:Plb1 UTSW 5 32,507,004 (GRCm39) missense probably damaging 1.00
R2153:Plb1 UTSW 5 32,471,433 (GRCm39) missense probably damaging 1.00
R2207:Plb1 UTSW 5 32,473,984 (GRCm39) missense possibly damaging 0.50
R2270:Plb1 UTSW 5 32,450,586 (GRCm39) missense probably damaging 1.00
R2271:Plb1 UTSW 5 32,450,586 (GRCm39) missense probably damaging 1.00
R2311:Plb1 UTSW 5 32,427,162 (GRCm39) missense probably benign 0.01
R2850:Plb1 UTSW 5 32,450,568 (GRCm39) missense probably benign
R3103:Plb1 UTSW 5 32,485,373 (GRCm39) missense possibly damaging 0.92
R4444:Plb1 UTSW 5 32,487,909 (GRCm39) missense probably benign 0.06
R4559:Plb1 UTSW 5 32,490,175 (GRCm39) missense probably damaging 0.99
R4577:Plb1 UTSW 5 32,404,901 (GRCm39) nonsense probably null
R4578:Plb1 UTSW 5 32,404,901 (GRCm39) nonsense probably null
R4739:Plb1 UTSW 5 32,507,023 (GRCm39) splice site probably null
R4747:Plb1 UTSW 5 32,507,003 (GRCm39) missense probably benign 0.08
R4806:Plb1 UTSW 5 32,447,196 (GRCm39) missense probably damaging 1.00
R5406:Plb1 UTSW 5 32,499,259 (GRCm39) missense probably damaging 1.00
R5567:Plb1 UTSW 5 32,521,543 (GRCm39) missense unknown
R5574:Plb1 UTSW 5 32,487,291 (GRCm39) missense probably benign 0.13
R5588:Plb1 UTSW 5 32,487,293 (GRCm39) critical splice donor site probably null
R5619:Plb1 UTSW 5 32,490,841 (GRCm39) missense probably damaging 0.99
R5769:Plb1 UTSW 5 32,474,866 (GRCm39) missense probably benign 0.05
R6366:Plb1 UTSW 5 32,471,429 (GRCm39) missense possibly damaging 0.59
R6700:Plb1 UTSW 5 32,490,808 (GRCm39) missense probably damaging 0.99
R7162:Plb1 UTSW 5 32,507,007 (GRCm39) missense probably benign 0.30
R7379:Plb1 UTSW 5 32,502,983 (GRCm39) missense probably damaging 1.00
R7395:Plb1 UTSW 5 32,511,028 (GRCm39) missense probably benign 0.30
R7426:Plb1 UTSW 5 32,478,591 (GRCm39) splice site probably null
R7643:Plb1 UTSW 5 32,404,901 (GRCm39) nonsense probably null
R7657:Plb1 UTSW 5 32,487,211 (GRCm39) missense probably damaging 0.98
R7780:Plb1 UTSW 5 32,483,610 (GRCm39) splice site probably null
R8040:Plb1 UTSW 5 32,430,413 (GRCm39) missense possibly damaging 0.89
R8212:Plb1 UTSW 5 32,422,250 (GRCm39) missense probably damaging 1.00
R8560:Plb1 UTSW 5 32,460,023 (GRCm39) missense possibly damaging 0.95
R8770:Plb1 UTSW 5 32,404,853 (GRCm39) missense unknown
R8857:Plb1 UTSW 5 32,521,556 (GRCm39) missense unknown
R9029:Plb1 UTSW 5 32,439,079 (GRCm39) missense probably damaging 0.99
R9110:Plb1 UTSW 5 32,521,402 (GRCm39) missense probably benign 0.00
R9765:Plb1 UTSW 5 32,512,731 (GRCm39) missense probably damaging 1.00
X0018:Plb1 UTSW 5 32,443,227 (GRCm39) missense probably benign 0.01
X0019:Plb1 UTSW 5 32,511,041 (GRCm39) missense probably damaging 0.99
X0027:Plb1 UTSW 5 32,427,702 (GRCm39) missense probably benign
X0028:Plb1 UTSW 5 32,460,019 (GRCm39) missense probably damaging 1.00
Z1088:Plb1 UTSW 5 32,468,261 (GRCm39) missense probably benign
Z1088:Plb1 UTSW 5 32,468,191 (GRCm39) missense probably damaging 0.99
Z1177:Plb1 UTSW 5 32,442,241 (GRCm39) missense possibly damaging 0.91
Predicted Primers
Posted On 2020-07-28