Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03170:Plb1'

411797

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 #

IGL03170

Quality Score

Status

Chromosome

Chromosomal Location

32390035-32521700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32442246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 246 (C246F)

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: C246F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: C246F

Domain	Start	End	E-Value	Type
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: C246F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: C246F

Domain	Start	End	E-Value	Type
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: C246F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: C246F

Domain	Start	End	E-Value	Type
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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,774,861 (GRCm39)	D1023G	probably damaging	Het
Ccn1	C	A	3: 145,355,514 (GRCm39)	A12S	probably benign	Het
Cyp2c54	A	G	19: 40,060,809 (GRCm39)		probably null	Het
Cyp4f37	C	T	17: 32,844,093 (GRCm39)		probably benign	Het
Entpd2	T	C	2: 25,289,493 (GRCm39)	F325S	probably damaging	Het
Flnb	T	C	14: 7,818,261 (GRCm38)	I37T	possibly damaging	Het
Gtpbp10	A	G	5: 5,605,355 (GRCm39)	V116A	probably benign	Het
H2-T9	C	T	17: 36,439,605 (GRCm39)	G125E	probably damaging	Het
Lrp1b	T	A	2: 40,587,456 (GRCm39)	N164I	unknown	Het
Nle1	T	A	11: 82,795,096 (GRCm39)	T312S	probably benign	Het
Or10ab5	T	C	7: 108,245,307 (GRCm39)	I159V	probably benign	Het
Pim1	T	A	17: 29,710,152 (GRCm39)	L12Q	possibly damaging	Het
Ppp4r4	T	C	12: 103,557,033 (GRCm39)		probably benign	Het
Prl6a1	T	A	13: 27,499,406 (GRCm39)	V63D	possibly damaging	Het
Ptprz1	G	A	6: 22,959,766 (GRCm39)	A88T	probably benign	Het
Ranbp3l	A	T	15: 9,029,611 (GRCm39)	E31V	probably damaging	Het
Relch	C	T	1: 105,663,680 (GRCm39)	T943I	probably damaging	Het
Rgs9	G	A	11: 109,150,681 (GRCm39)	T209I	probably benign	Het
Smg8	A	G	11: 86,977,434 (GRCm39)	V49A	probably damaging	Het
Smim6	A	T	11: 115,804,314 (GRCm39)	T34S	possibly damaging	Het
Snw1	T	G	12: 87,519,022 (GRCm39)	T4P	probably benign	Het
Sod2	C	A	17: 13,227,257 (GRCm39)	H70Q	probably benign	Het
Tro	A	G	X: 149,438,556 (GRCm39)	S34P	probably benign	Het
Tshr	T	A	12: 91,504,643 (GRCm39)	M527K	probably damaging	Het
Uggt1	A	C	1: 36,202,342 (GRCm39)	V1085G	probably damaging	Het
Vmn1r21	A	G	6: 57,820,847 (GRCm39)	V199A	probably damaging	Het
Xkr9	T	C	1: 13,771,036 (GRCm39)	I184T	possibly damaging	Het
Zfp369	T	C	13: 65,442,224 (GRCm39)	S273P	probably damaging	Het
Zpld2	C	T	4: 133,920,345 (GRCm39)	V607I	possibly damaging	Het

Other mutations in Plb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02