Incidental Mutation 'R2271:Plb1'
ID 242463
Institutional Source Beutler Lab
Gene Symbol Plb1
Ensembl Gene ENSMUSG00000029134
Gene Name phospholipase B1
Synonyms 4632413E21Rik, 4930433E17Rik, 4930539A06Rik
MMRRC Submission 040271-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2271 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 32390035-32521700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32450586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 376 (D376Y)
Ref Sequence ENSEMBL: ENSMUSP00000144040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101376] [ENSMUST00000202201] [ENSMUST00000202220]
AlphaFold Q3TTY0
Predicted Effect probably damaging
Transcript: ENSMUST00000101376
AA Change: D376Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: D376Y

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 damaging
Transcript: ENSMUST00000202201
AA Change: D376Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: D376Y

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 damaging
Transcript: ENSMUST00000202220
AA Change: D376Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: D376Y

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,857,575 (GRCm39) Q194L probably damaging Het
Acsf2 T A 11: 94,449,699 (GRCm39) K574* probably null Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bcan T A 3: 87,900,401 (GRCm39) S611C probably damaging Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc146 C A 5: 21,604,719 (GRCm39) D40Y probably benign Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Chd7 A G 4: 8,785,532 (GRCm39) D612G probably damaging Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cops6 A T 5: 138,159,403 (GRCm39) N10I probably benign Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27a1 A G 1: 74,775,846 (GRCm39) N344D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Disp3 C T 4: 148,356,059 (GRCm39) R267Q possibly damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Dnajb14 G A 3: 137,591,141 (GRCm39) G31S probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Efcab6 T A 15: 83,831,200 (GRCm39) R571S probably benign Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Hps6 C T 19: 45,994,121 (GRCm39) A686V possibly damaging Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mocs1 A T 17: 49,756,137 (GRCm39) K198M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Neu3 G C 7: 99,462,650 (GRCm39) R358G probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1n1 G A 2: 36,749,637 (GRCm39) S241F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Or8j3 A G 2: 86,028,161 (GRCm39) F312L probably benign Het
Pik3c2b T C 1: 133,031,166 (GRCm39) S1491P probably benign Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plekhm1 C T 11: 103,277,948 (GRCm39) E383K probably benign Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Ptprh C A 7: 4,606,132 (GRCm39) probably benign Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Sacs A G 14: 61,442,109 (GRCm39) H1385R probably benign Het
Sec24a A G 11: 51,607,277 (GRCm39) S656P possibly damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Sin3b T A 8: 73,460,047 (GRCm39) N211K probably benign Het
Slc22a2 A T 17: 12,805,692 (GRCm39) M148L probably benign Het
Slc3a1 G A 17: 85,371,220 (GRCm39) V591I probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Spag17 C T 3: 100,014,113 (GRCm39) P2129S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Sphkap T A 1: 83,234,942 (GRCm39) D1628V probably damaging Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
U2surp T C 9: 95,373,473 (GRCm39) E232G possibly damaging Het
Usp25 T A 16: 76,873,317 (GRCm39) F458L probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r10 A G 6: 57,091,088 (GRCm39) T227A probably damaging Het
Zcchc12 C T X: 35,462,118 (GRCm39) T345M possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D 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
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'- TGAGCTCATGTGAAGGAGGC -3'
(R):5'- TCTTGCAGAGCCATAAATGCTGTC -3'

Sequencing Primer
(F):5'- GCATCCCTGGAGTGAAGG -3'
(R):5'- GAGCCATAAATGCTGTCCTAGGC -3'
Posted On 2014-10-16