Incidental Mutation 'IGL02314:Plb1'
ID 287951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plb1
Ensembl Gene ENSMUSG00000029134
Gene Name phospholipase B1
Synonyms 4632413E21Rik, 4930433E17Rik, 4930539A06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02314
Quality Score
Status
Chromosome 5
Chromosomal Location 32390035-32521700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 32438492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 209 (Y209S)
Ref Sequence ENSEMBL: ENSMUSP00000144040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101376] [ENSMUST00000202201] [ENSMUST00000202220]
AlphaFold Q3TTY0
Predicted Effect possibly damaging
Transcript: ENSMUST00000101376
AA Change: Y209S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: Y209S

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 possibly damaging
Transcript: ENSMUST00000202201
AA Change: Y209S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: Y209S

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 possibly damaging
Transcript: ENSMUST00000202220
AA Change: Y209S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: Y209S

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
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 (GRCm39) K94* probably null Het
Axl A G 7: 25,486,345 (GRCm39) F120L possibly damaging Het
Baz2b A G 2: 59,792,571 (GRCm39) V519A probably benign Het
Cdk2 A T 10: 128,539,595 (GRCm39) I99N probably damaging Het
Ces1b C A 8: 93,791,524 (GRCm39) W358C possibly damaging Het
Cimap1b T G 15: 89,262,372 (GRCm39) K82N probably damaging Het
Clca3b A G 3: 144,533,903 (GRCm39) probably benign Het
Col6a4 T G 9: 105,874,355 (GRCm39) T2211P probably damaging Het
Cyp4f14 C T 17: 33,125,265 (GRCm39) E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 (GRCm39) T407S possibly damaging Het
Dtx3 G A 10: 127,026,828 (GRCm39) probably benign Het
Eif1ad14 T A 12: 87,886,377 (GRCm39) Y84F probably benign Het
Fat3 A T 9: 15,881,134 (GRCm39) L3246H possibly damaging Het
Fat4 A T 3: 38,941,779 (GRCm39) D224V probably damaging Het
Fndc9 A T 11: 46,129,122 (GRCm39) I214F probably benign Het
Foxred1 A T 9: 35,117,264 (GRCm39) I22N probably damaging Het
Gkn1 T C 6: 87,326,103 (GRCm39) D29G probably benign Het
Gng11 T A 6: 4,004,317 (GRCm39) M1K probably null Het
Hdac7 T C 15: 97,706,885 (GRCm39) D237G probably damaging Het
Hgf A G 5: 16,777,600 (GRCm39) Y199C probably damaging Het
Hgfac A T 5: 35,198,941 (GRCm39) M1L probably benign Het
Hsd17b6 T C 10: 127,833,777 (GRCm39) T35A probably damaging Het
Htr3a G A 9: 48,815,927 (GRCm39) P170L probably damaging Het
Ighv12-3 A G 12: 114,330,421 (GRCm39) S25P probably damaging Het
Jph2 A T 2: 163,239,273 (GRCm39) N58K probably damaging Het
Lama5 A G 2: 179,836,275 (GRCm39) probably benign Het
Lpin3 T A 2: 160,740,638 (GRCm39) Y394* probably null Het
Macf1 G T 4: 123,338,630 (GRCm39) T2248K probably damaging Het
Map3k2 A G 18: 32,351,553 (GRCm39) probably benign Het
Map4k5 G A 12: 69,865,213 (GRCm39) P524S probably benign Het
Mcf2l C T 8: 13,051,851 (GRCm39) S359L probably damaging Het
Mdh1b C T 1: 63,750,273 (GRCm39) probably null Het
Mfhas1 G A 8: 36,055,927 (GRCm39) R134H probably damaging Het
Mogs A G 6: 83,095,036 (GRCm39) T618A probably benign Het
Mybpc2 T A 7: 44,171,812 (GRCm39) Q39H possibly damaging Het
Myoc C T 1: 162,466,917 (GRCm39) R29W probably damaging Het
Nae1 A G 8: 105,252,938 (GRCm39) M162T probably damaging Het
Nfatc3 A G 8: 106,805,532 (GRCm39) I126V probably benign Het
Nxnl2 C A 13: 51,325,565 (GRCm39) F69L probably benign Het
Oca2 T A 7: 56,006,899 (GRCm39) I662N probably benign Het
Or52b3 A T 7: 102,204,318 (GRCm39) I276F probably damaging Het
Or5w8 A G 2: 87,688,400 (GRCm39) N294D probably damaging Het
Or7c70 A T 10: 78,683,099 (GRCm39) S217T probably damaging Het
Or7e176 A T 9: 20,171,774 (GRCm39) I213L probably benign Het
Pcdhb14 G A 18: 37,583,248 (GRCm39) E785K probably benign Het
Pramel24 T C 4: 143,455,012 (GRCm39) S437P probably benign Het
Rab44 C A 17: 29,358,327 (GRCm39) Q172K probably benign Het
Rnf214 A T 9: 45,811,105 (GRCm39) V186E probably benign Het
Rps6ka1 C A 4: 133,578,065 (GRCm39) G522W probably damaging Het
Samhd1 G T 2: 156,976,948 (GRCm39) T21K probably damaging Het
Scly A G 1: 91,246,763 (GRCm39) Y358C probably benign Het
Sfxn2 A G 19: 46,571,026 (GRCm39) N29D possibly damaging Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slc44a5 G A 3: 153,962,156 (GRCm39) S363N probably damaging Het
Smg1 A G 7: 117,753,932 (GRCm39) probably benign Het
Tas1r3 A T 4: 155,945,119 (GRCm39) C701S probably damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Trmt6 G A 2: 132,647,378 (GRCm39) A486V probably benign Het
Ttn G A 2: 76,727,091 (GRCm39) R1602* probably null Het
Ush2a A G 1: 188,365,826 (GRCm39) M2227V probably benign Het
Vmn2r96 A T 17: 18,804,221 (GRCm39) Q490H probably benign Het
Wdr19 G T 5: 65,414,463 (GRCm39) A1279S probably benign Het
Zbtb7c G A 18: 76,278,937 (GRCm39) R465H probably damaging Het
Zfp473 T C 7: 44,383,353 (GRCm39) S326G probably benign 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
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
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
Posted On 2015-04-16