Mutagenetix > Incidental Mutation

Incidental Mutation 'R3103:Plb1'

262893

Institutional Source

Beutler Lab

Gene Symbol

Plb1

Ensembl Gene

ENSMUSG00000029134

Gene Name

phospholipase B1

Synonyms

4632413E21Rik, 4930433E17Rik, 4930539A06Rik

MMRRC Submission

040577-MU

Accession Numbers

Essential gene?

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

Stock #

R3103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32390035-32521700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32485373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 842 (M842K)

Ref Sequence

ENSEMBL: ENSMUSP00000144040 (fasta)

Gene Model

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

AlphaFold

Q3TTY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101376
AA Change: M842K

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098927
Gene: ENSMUSG00000029134
AA Change: M842K

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

possibly damaging
Transcript: ENSMUST00000202220
AA Change: M842K

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144040
Gene: ENSMUSG00000029134
AA Change: M842K

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: ENSMUST00000202688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202886

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,310,409 (GRCm39)		probably null	Het
Adap2	G	T	11: 80,047,859 (GRCm39)	C105F	probably damaging	Het
Bace2	T	C	16: 97,223,201 (GRCm39)		probably null	Het
Bpifc	A	G	10: 85,829,286 (GRCm39)	S94P	probably damaging	Het
C2cd3	A	G	7: 100,044,459 (GRCm39)	D347G	possibly damaging	Het
Cad	T	C	5: 31,219,018 (GRCm39)	V613A	possibly damaging	Het
Ccdc47	T	C	11: 106,093,667 (GRCm39)	H6R	probably benign	Het
Celsr3	A	G	9: 108,714,338 (GRCm39)	T1956A	probably benign	Het
Cep128	T	A	12: 90,986,118 (GRCm39)	D1006V	probably damaging	Het
Cog3	T	C	14: 75,984,641 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,967,405 (GRCm39)	V3153M	probably damaging	Het
Ctnna2	T	C	6: 77,630,127 (GRCm39)	E122G	possibly damaging	Het
Cts8	T	A	13: 61,398,772 (GRCm39)	I245F	probably damaging	Het
Ddx27	T	A	2: 166,868,166 (GRCm39)	V333E	probably damaging	Het
Dmpk	A	G	7: 18,821,579 (GRCm39)	Y279C	probably damaging	Het
Dpagt1	A	G	9: 44,239,292 (GRCm39)	I111V	probably benign	Het
Dvl2	C	A	11: 69,899,695 (GRCm39)	P546T	possibly damaging	Het
Fat4	G	T	3: 38,946,089 (GRCm39)	A1661S	probably benign	Het
Gcm1	A	G	9: 77,971,734 (GRCm39)	N225S	probably damaging	Het
Gcnt2	A	T	13: 41,072,082 (GRCm39)	M242L	probably benign	Het
Golgb1	A	G	16: 36,715,211 (GRCm39)	R226G	probably damaging	Het
Gpr63	G	A	4: 25,007,353 (GRCm39)	V26I	probably benign	Het
Grik2	A	G	10: 49,116,868 (GRCm39)	L631P	probably damaging	Het
Hapln3	T	C	7: 78,771,484 (GRCm39)	D135G	probably benign	Het
Il31ra	C	A	13: 112,666,885 (GRCm39)	V398F	probably damaging	Het
Ipp	G	T	4: 116,381,446 (GRCm39)	R315L	possibly damaging	Het
Kcmf1	A	G	6: 72,838,830 (GRCm39)	L32P	probably damaging	Het
Klf17	T	A	4: 117,617,805 (GRCm39)	Q184L	possibly damaging	Het
Lrp2	C	T	2: 69,262,328 (GRCm39)	V4442I	probably benign	Het
Lrrfip2	A	T	9: 111,051,278 (GRCm39)	E293D	probably damaging	Het
Oit3	A	G	10: 59,274,713 (GRCm39)	I29T	probably damaging	Het
Or1a1	G	A	11: 74,086,901 (GRCm39)	D191N	probably benign	Het
Or1j21	T	C	2: 36,683,574 (GRCm39)	C109R	possibly damaging	Het
Or51h1	T	C	7: 102,308,688 (GRCm39)	V220A	probably benign	Het
Ppt1	T	C	4: 122,730,100 (GRCm39)	C18R	probably benign	Het
Pstpip2	T	C	18: 77,959,477 (GRCm39)	Y191H	probably damaging	Het
Ryr1	C	T	7: 28,774,373 (GRCm39)	V2361I	probably damaging	Het
Serpinb11	A	G	1: 107,305,338 (GRCm39)	N238S	probably benign	Het
Skor2	A	T	18: 76,946,973 (GRCm39)	K232*	probably null	Het
Slc13a5	A	T	11: 72,148,214 (GRCm39)	W231R	probably damaging	Het
Svs5	A	T	2: 164,175,313 (GRCm39)	E55V	probably benign	Het
Tfcp2	A	T	15: 100,423,481 (GRCm39)	W142R	probably damaging	Het
Trpc2	A	T	7: 101,744,441 (GRCm39)	I738F	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,067 (GRCm39)	S227T	possibly damaging	Het
Zfhx4	A	G	3: 5,464,386 (GRCm39)	T1540A	probably damaging	Het
Zfp616	A	G	11: 73,962,561 (GRCm39)	T74A	probably benign	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
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'- CAGTCTCTCCAACAGTAGCC -3'
(R):5'- ACAGCAAGAACCTCAAAGTTGATG -3'

Sequencing Primer
(F):5'- TCCAACAGTAGCCCCTGTG -3'
(R):5'- TTATAGACCAGGATCTTAGCAACAGG -3'

Posted On

2015-02-05