Mutagenetix > Incidental Mutation

Incidental Mutation 'R8212:Plb1'

636203

Institutional Source

Beutler Lab

Gene Symbol

Plb1

Ensembl Gene

ENSMUSG00000029134

Gene Name

phospholipase B1

Synonyms

4632413E21Rik, 4930433E17Rik, 4930539A06Rik

MMRRC Submission

067635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32390035-32521700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32422250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 68 (S68P)

Ref Sequence

ENSEMBL: ENSMUSP00000144401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101376] [ENSMUST00000202201] [ENSMUST00000202220]

AlphaFold

Q3TTY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000101376
AA Change: S68P

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

SMART Domains

Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: S68P

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 damaging
Transcript: ENSMUST00000202201
AA Change: S68P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144401
Gene: ENSMUSG00000029134
AA Change: S68P

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: S68P

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

SMART Domains

Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: S68P

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

Meta Mutation Damage Score

0.1144

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (37/38)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,670,240 (GRCm39)	I2369V	probably benign	Het
Ager	G	A	17: 34,819,586 (GRCm39)	R368H	possibly damaging	Het
Arl2	G	T	19: 6,187,596 (GRCm39)	T84K	probably damaging	Het
Cfap126	A	T	1: 170,953,630 (GRCm39)	T67S	probably damaging	Het
Cfap45	A	G	1: 172,369,067 (GRCm39)		probably null	Het
Cfdp1	A	T	8: 112,571,815 (GRCm39)	N31K	probably damaging	Het
Clpx	A	G	9: 65,228,173 (GRCm39)	T408A	possibly damaging	Het
Cobll1	T	C	2: 64,932,424 (GRCm39)	N526S	probably benign	Het
Cpne1	T	C	2: 155,920,134 (GRCm39)	D215G	probably damaging	Het
Cstf1	T	C	2: 172,219,872 (GRCm39)	S328P	probably damaging	Het
Cyp2a22	T	C	7: 26,637,205 (GRCm39)	E193G	possibly damaging	Het
Fam83c	A	G	2: 155,671,207 (GRCm39)	F743L	probably benign	Het
Fn1	A	G	1: 71,682,064 (GRCm39)	I364T	probably benign	Het
Foxo3	T	C	10: 42,072,991 (GRCm39)	M509V	possibly damaging	Het
Galnt6	T	C	15: 100,591,308 (GRCm39)	T599A	probably benign	Het
Gm5114	A	G	7: 39,060,676 (GRCm39)	S58P	probably benign	Het
Gria4	G	A	9: 4,480,242 (GRCm39)	A402V	probably benign	Het
Heatr5a	C	A	12: 51,946,012 (GRCm39)	A1200S	probably benign	Het
Nlrp5	A	T	7: 23,116,762 (GRCm39)	D162V	probably benign	Het
Or14j6	T	C	17: 38,215,148 (GRCm39)	V237A	probably benign	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pcf11	G	A	7: 92,308,706 (GRCm39)	R589C	probably damaging	Het
Pkhd1l1	A	G	15: 44,362,696 (GRCm39)	D574G	probably benign	Het
Plekhs1	A	G	19: 56,460,188 (GRCm39)	M95V	probably damaging	Het
Polr2h	T	C	16: 20,536,746 (GRCm39)		probably null	Het
Ppef2	T	A	5: 92,376,524 (GRCm39)	I668L	possibly damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rwdd1	A	G	10: 33,878,523 (GRCm39)	V104A	probably damaging	Het
Slc2a9	G	T	5: 38,637,402 (GRCm39)	H25N	probably benign	Het
Slc36a3	T	A	11: 55,015,907 (GRCm39)	I416F	probably damaging	Het
Sppl2b	T	A	10: 80,701,193 (GRCm39)	V356D	probably damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Tln1	T	C	4: 43,555,918 (GRCm39)	T99A	probably damaging	Het
Tm9sf3	A	T	19: 41,229,074 (GRCm39)	M243K	probably damaging	Het
Trnt1	T	C	6: 106,746,832 (GRCm39)	Y6H	probably benign	Het
Ttn	T	A	2: 76,612,626 (GRCm39)	H17151L	probably benign	Het
Ube2o	A	G	11: 116,439,624 (GRCm39)	V182A	possibly damaging	Het
Zfhx2	G	T	14: 55,310,373 (GRCm39)	D724E	possibly damaging	Het
Zfp616	T	A	11: 73,976,569 (GRCm39)	V946D	probably 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
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
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'- GGTTCCAGGATTCCCAGTAAGTAC -3'
(R):5'- AATGCTTTCTCCCAAATGGAAC -3'

Sequencing Primer
(F):5'- CAGGATCCTGAATTTGCCTGCAG -3'
(R):5'- CCAAGTGCTCAGACTACAAGTTTGTG -3'

Posted On

2020-07-13