Incidental Mutation 'R0034:Plb1'
ID 64578
Institutional Source Beutler Lab
Gene Symbol Plb1
Ensembl Gene ENSMUSG00000029134
Gene Name phospholipase B1
Synonyms 4632413E21Rik, 4930433E17Rik, 4930539A06Rik
MMRRC Submission 038328-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0034 (G1)
Quality Score 124
Status Validated
Chromosome 5
Chromosomal Location 32390035-32521700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32430457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 138 (G138V)
Ref Sequence ENSEMBL: ENSMUSP00000144040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101376] [ENSMUST00000202201] [ENSMUST00000202220]
AlphaFold Q3TTY0
Predicted Effect probably benign
Transcript: ENSMUST00000101376
AA Change: G138V

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: G138V

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 noncoding transcript
Transcript: ENSMUST00000201313
Predicted Effect probably benign
Transcript: ENSMUST00000202201
AA Change: G138V

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: G138V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 57 69 N/A INTRINSIC
Pfam:Lipase_GDSL 398 672 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202220
AA Change: G138V

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: G138V

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 noncoding transcript
Transcript: ENSMUST00000202886
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (64/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik C T 7: 136,989,321 (GRCm39) R60Q probably benign Het
Angpt4 C T 2: 151,771,311 (GRCm39) T209I probably benign Het
Ap3b1 T C 13: 94,616,393 (GRCm39) probably benign Het
Aplp1 A C 7: 30,143,867 (GRCm39) V56G probably damaging Het
Asns G A 6: 7,676,299 (GRCm39) P419L probably damaging Het
Atxn7 A T 14: 14,100,846 (GRCm38) H844L probably damaging Het
Cd14 A G 18: 36,859,288 (GRCm39) Y56H probably benign Het
Cd300lb C T 11: 114,819,225 (GRCm39) V135I probably damaging Het
Cep152 C T 2: 125,425,813 (GRCm39) A851T probably benign Het
Cfap74 C T 4: 155,545,344 (GRCm39) probably benign Het
Col28a1 T A 6: 8,175,708 (GRCm39) I47L probably benign Het
Dnaaf9 T C 2: 130,578,492 (GRCm39) H664R probably damaging Het
Eef1d T C 15: 75,774,808 (GRCm39) T200A probably benign Het
Exoc1l A G 5: 76,664,377 (GRCm39) I155M probably damaging Het
Faap100 A T 11: 120,262,973 (GRCm39) M795K probably benign Het
Gabpb1 C T 2: 126,500,454 (GRCm39) R15Q possibly damaging Het
Gata4 C A 14: 63,438,933 (GRCm39) M381I probably benign Het
Gm5114 A G 7: 39,058,282 (GRCm39) S446P possibly damaging Het
Gnb1 T A 4: 155,636,146 (GRCm39) N155K probably benign Het
Haspin G A 11: 73,029,044 (GRCm39) T15M probably damaging Het
Heatr5a A G 12: 51,971,955 (GRCm39) L745P probably damaging Het
Kcng3 T A 17: 83,895,812 (GRCm39) probably benign Het
Kif15 A T 9: 122,828,350 (GRCm39) N887I possibly damaging Het
Kif26a T C 12: 112,135,397 (GRCm39) probably benign Het
Kif9 G A 9: 110,348,679 (GRCm39) C738Y probably benign Het
Kifc2 G T 15: 76,551,300 (GRCm39) C613F probably benign Het
Klf12 A G 14: 100,224,865 (GRCm39) probably null Het
Lrp1 A T 10: 127,381,520 (GRCm39) I3826N probably benign Het
Map2k4 A G 11: 65,610,437 (GRCm39) probably benign Het
Myo7b A G 18: 32,093,913 (GRCm39) S2006P probably damaging Het
Or51m1 T C 7: 103,578,708 (GRCm39) V226A probably benign Het
Pax4 T C 6: 28,442,448 (GRCm39) T285A probably benign Het
Pcdhb5 A G 18: 37,455,137 (GRCm39) N506D probably damaging Het
Pkhd1l1 G A 15: 44,367,405 (GRCm39) G768S probably benign Het
Poln A C 5: 34,272,762 (GRCm39) V398G possibly damaging Het
Poteg A G 8: 27,952,105 (GRCm39) probably benign Het
Rapgef1 C A 2: 29,614,780 (GRCm39) probably benign Het
Rbm43 A T 2: 51,815,722 (GRCm39) D166E probably benign Het
Rhobtb2 T C 14: 70,026,137 (GRCm39) T602A probably benign Het
Samd3 G A 10: 26,147,398 (GRCm39) probably benign Het
Sbno2 A C 10: 79,894,174 (GRCm39) probably benign Het
Sec1 A G 7: 45,328,759 (GRCm39) V96A probably benign Het
Senp7 A C 16: 55,973,933 (GRCm39) S385R possibly damaging Het
Sgk3 T C 1: 9,955,902 (GRCm39) V301A probably damaging Het
Sgpl1 A T 10: 60,938,392 (GRCm39) M467K probably damaging Het
Slc22a26 A G 19: 7,779,618 (GRCm39) I66T probably benign Het
Stra6 G A 9: 58,058,752 (GRCm39) probably null Het
Tfrc T A 16: 32,434,214 (GRCm39) probably null Het
Tmem30b T C 12: 73,592,779 (GRCm39) Y112C probably damaging Het
Trap1 A T 16: 3,886,894 (GRCm39) probably benign Het
Trpc1 A G 9: 95,631,814 (GRCm39) S43P probably damaging Het
Tsku T C 7: 98,001,870 (GRCm39) T154A possibly damaging Het
Uroc1 T C 6: 90,322,292 (GRCm39) V272A probably damaging Het
Vmn1r69 T A 7: 10,314,738 (GRCm39) probably benign Het
Vmn2r1 T A 3: 63,997,435 (GRCm39) W364R probably damaging Het
Wnk2 G T 13: 49,221,556 (GRCm39) T377K possibly damaging Het
Zfta C A 19: 7,397,724 (GRCm39) H90Q probably damaging Het
Zscan20 T C 4: 128,479,455 (GRCm39) N1012S 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
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
R8312:Plb1 UTSW 5 32,485,829 (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 PCR Primer
(F):5'- ATGGAGGCTAAGCCGCACAATG -3'
(R):5'- TCTGCGAAGTGGGAAGCACAATC -3'

Sequencing Primer
(F):5'- GCCGCACAATGAGGCAG -3'
(R):5'- ACTGAACTACACTGGCTTCTGAG -3'
Posted On 2013-08-06