Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02649:Plb1'

302051

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: 0.057) question?

Stock #

IGL02649

Quality Score

Status

Chromosome

Chromosomal Location

32390035-32521700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32519912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1385 (I1385M)

Ref Sequence

ENSEMBL: ENSMUSP00000144040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101376] [ENSMUST00000202220]

AlphaFold

Q3TTY0

Predicted Effect

probably benign
Transcript: ENSMUST00000101376
AA Change: I1385M

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: I1385M

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

probably benign
Transcript: ENSMUST00000202220
AA Change: I1385M

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: I1385M

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: ENSMUST00000202453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202687

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	T	11: 116,486,472 (GRCm39)	I4F	probably benign	Het
Adamts17	T	G	7: 66,499,626 (GRCm39)		probably benign	Het
Adcy1	A	T	11: 7,117,156 (GRCm39)	M1008L	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrnl1	T	G	19: 57,638,873 (GRCm39)		probably benign	Het
Brd3	T	A	2: 27,344,362 (GRCm39)	E456V	probably damaging	Het
Cabin1	A	T	10: 75,573,252 (GRCm39)	L712H	probably damaging	Het
Ccna1	T	A	3: 54,961,807 (GRCm39)	T38S	probably damaging	Het
Chadl	T	A	15: 81,580,059 (GRCm39)	I59F	probably benign	Het
Chmp3	T	C	6: 71,529,417 (GRCm39)	M27T	possibly damaging	Het
Clcn1	C	T	6: 42,275,763 (GRCm39)	T295I	probably damaging	Het
Col6a6	A	G	9: 105,604,369 (GRCm39)		probably null	Het
Dennd2a	T	A	6: 39,447,290 (GRCm39)	H776L	probably benign	Het
Dimt1	G	A	13: 107,085,219 (GRCm39)	R55K	probably benign	Het
Dlg5	T	A	14: 24,196,319 (GRCm39)	D1626V	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Hectd4	T	C	5: 121,487,465 (GRCm39)	S3487P	possibly damaging	Het
Hivep1	T	C	13: 42,310,787 (GRCm39)	V1009A	possibly damaging	Het
Ifna12	A	T	4: 88,521,091 (GRCm39)	V152E	probably damaging	Het
Igf2r	A	T	17: 12,930,974 (GRCm39)	C903S	possibly damaging	Het
Ipo9	T	C	1: 135,313,672 (GRCm39)	D1002G	possibly damaging	Het
Isyna1	T	C	8: 71,048,904 (GRCm39)	S328P	probably damaging	Het
Itprid2	T	C	2: 79,472,303 (GRCm39)		probably benign	Het
Lamc1	G	A	1: 153,122,788 (GRCm39)	T764I	possibly damaging	Het
Lta4h	T	C	10: 93,308,831 (GRCm39)	V377A	probably benign	Het
Lyz2	C	T	10: 117,118,090 (GRCm39)	V20I	probably benign	Het
Myo3a	A	T	2: 22,328,418 (GRCm39)	L329F	probably benign	Het
Nlgn2	T	C	11: 69,716,628 (GRCm39)	T638A	probably benign	Het
Oasl2	A	G	5: 115,035,753 (GRCm39)	T10A	probably damaging	Het
Or14j8	A	T	17: 38,263,864 (GRCm39)	F17Y	probably damaging	Het
Or5k1	T	A	16: 58,617,713 (GRCm39)	R165S	probably damaging	Het
Pde10a	A	T	17: 9,172,604 (GRCm39)	N296I	probably damaging	Het
Pld1	T	C	3: 28,141,378 (GRCm39)	V647A	probably damaging	Het
Pnp	T	C	14: 51,185,303 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,905,327 (GRCm39)	I1656K	probably damaging	Het
Rimbp3	G	T	16: 17,027,472 (GRCm39)	E299*	probably null	Het
Sbsn	C	A	7: 30,452,683 (GRCm39)	A566D	probably damaging	Het
Sh3rf1	T	A	8: 61,816,225 (GRCm39)	M494K	probably damaging	Het
Slc2a2	T	A	3: 28,772,885 (GRCm39)	V226E	probably damaging	Het
Smarca2	T	A	19: 26,617,986 (GRCm39)	I339N	possibly damaging	Het
Tenm2	G	T	11: 36,097,912 (GRCm39)	S445R	possibly damaging	Het
Tlcd5	C	A	9: 43,022,783 (GRCm39)	K190N	probably benign	Het
Tnip2	A	T	5: 34,671,075 (GRCm39)	L56Q	probably damaging	Het
Trpv1	C	T	11: 73,141,612 (GRCm39)	S485F	probably damaging	Het
Vmn2r23	T	C	6: 123,681,437 (GRCm39)	M115T	probably benign	Het
Zbtb38	G	A	9: 96,568,672 (GRCm39)	T804I	probably damaging	Het
Zfhx3	T	C	8: 109,520,167 (GRCm39)	S430P	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
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