Mutagenetix > Incidental Mutation

Incidental Mutation 'R6140:Pla2g12b'

488542

Institutional Source

Beutler Lab

Gene Symbol

Pla2g12b

Ensembl Gene

ENSMUSG00000009646

Gene Name

phospholipase A2, group XIIB

Synonyms

Pla2g13, 2010002E04Rik, hlb218

MMRRC Submission

044287-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R6140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59239482-59257798 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 59257263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009790] [ENSMUST00000009798] [ENSMUST00000162643]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000009790

SMART Domains

Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646

Domain	Start	End	E-Value	Type
Pfam:PLA2G12	12	195	1.5e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000009798

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:ZP	50	144	9e-24	BLAST
EGF	150	181	2.16e1	SMART
EGF	185	222	2.94e-3	SMART
EGF	226	263	2.35e-2	SMART
ZP	267	516	2.74e-30	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000162643
AA Change: R92H

SMART Domains

Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646
AA Change: R92H

Domain	Start	End	E-Value	Type
Pfam:PLA2G12	1	77	1.7e-36	PFAM
low complexity region	90	101	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 96.9%
20x: 91.8%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit a reduction in serum total and HDL cholesterol levels, decreased serum triglyceride levels, and hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,055,923 (GRCm39)		probably benign	Het
Adgra2	A	T	8: 27,605,433 (GRCm39)	R593W	probably damaging	Het
Agfg2	T	C	5: 137,665,347 (GRCm39)	Q136R	probably damaging	Het
Ankrd42	T	C	7: 92,241,036 (GRCm39)		probably null	Het
Baz2b	T	C	2: 59,742,871 (GRCm39)	D1643G	probably damaging	Het
Ccdc171	C	T	4: 83,614,554 (GRCm39)	Q1060*	probably null	Het
Cela1	C	T	15: 100,579,037 (GRCm39)	R207H	probably benign	Het
Cfhr4	A	G	1: 139,660,133 (GRCm39)	V664A	probably damaging	Het
Clic6	A	G	16: 92,336,380 (GRCm39)	R563G	probably damaging	Het
Cspg4	A	T	9: 56,804,508 (GRCm39)	H1773L	probably benign	Het
Ddrgk1	A	G	2: 130,500,534 (GRCm39)	V204A	probably benign	Het
Dhrs7c	A	T	11: 67,705,900 (GRCm39)	T218S	probably damaging	Het
Dlgap4	A	T	2: 156,604,649 (GRCm39)		probably null	Het
Hgd	A	T	16: 37,410,075 (GRCm39)	Y37F	probably benign	Het
Hmcn1	A	C	1: 150,608,597 (GRCm39)	N1528K	probably damaging	Het
Hps3	A	G	3: 20,051,151 (GRCm39)	F843S	probably damaging	Het
Ifih1	A	G	2: 62,431,804 (GRCm39)	F800S	possibly damaging	Het
Igsf21	T	A	4: 139,834,684 (GRCm39)	T63S	probably benign	Het
Il18rap	T	G	1: 40,564,212 (GRCm39)	M110R	probably benign	Het
Kcnk2	G	T	1: 188,942,104 (GRCm39)	H384Q	probably damaging	Het
Lima1	C	T	15: 99,678,939 (GRCm39)	V341M	probably damaging	Het
Lins1	T	C	7: 66,361,672 (GRCm39)	L441P	probably damaging	Het
Lss	T	C	10: 76,386,522 (GRCm39)	Y642H	probably damaging	Het
Mrc2	A	G	11: 105,237,615 (GRCm39)	T1098A	probably benign	Het
Nf1	T	A	11: 79,364,146 (GRCm39)		probably null	Het
Nrdc	G	T	4: 108,906,308 (GRCm39)	A730S	probably damaging	Het
Nup214	C	T	2: 31,941,808 (GRCm39)	T72I	possibly damaging	Het
Or6c213	T	G	10: 129,574,523 (GRCm39)	K88Q	possibly damaging	Het
Or8g33	A	G	9: 39,337,543 (GRCm39)	S275P	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Oxt	A	G	2: 130,418,191 (GRCm39)	Y21C	probably damaging	Het
Ralgapb	T	C	2: 158,298,492 (GRCm39)	V907A	probably damaging	Het
Rnls	A	T	19: 33,115,600 (GRCm39)	D157E	probably damaging	Het
Slc7a14	C	A	3: 31,291,697 (GRCm39)	V194L	probably benign	Het
Slc7a7	G	A	14: 54,616,515 (GRCm39)	T189I	probably damaging	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
Ssh1	A	G	5: 114,080,692 (GRCm39)	Y891H	probably benign	Het
Suclg2	T	C	6: 95,546,702 (GRCm39)	D258G	probably damaging	Het
Tpk1	A	T	6: 43,400,635 (GRCm39)	M129K	probably benign	Het
Ubr3	A	G	2: 69,803,673 (GRCm39)	I1088V	probably benign	Het
Vmn1r3	A	G	4: 3,185,031 (GRCm39)	I92T	probably damaging	Het
Vmn2r69	G	A	7: 85,060,657 (GRCm39)	S309F	probably damaging	Het
Wsb1	A	T	11: 79,132,444 (GRCm39)	H325Q	probably damaging	Het
Zfp263	A	G	16: 3,566,081 (GRCm39)	S281G	probably benign	Het
Zfp507	A	G	7: 35,493,613 (GRCm39)	S477P	probably damaging	Het

Other mutations in Pla2g12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Pla2g12b	APN	10	59,252,239 (GRCm39)	missense	probably benign	0.28
IGL02526:Pla2g12b	APN	10	59,252,275 (GRCm39)	missense	probably damaging	1.00
IGL02551:Pla2g12b	APN	10	59,239,692 (GRCm39)	missense	probably damaging	1.00
florissant	UTSW	10	59,257,263 (GRCm39)	unclassified	probably benign
R0800:Pla2g12b	UTSW	10	59,239,642 (GRCm39)	missense	probably benign	0.00
R0918:Pla2g12b	UTSW	10	59,257,306 (GRCm39)	missense	probably damaging	0.98
R1412:Pla2g12b	UTSW	10	59,239,804 (GRCm39)	critical splice donor site	probably null
R1602:Pla2g12b	UTSW	10	59,257,375 (GRCm39)	splice site	probably null
R3765:Pla2g12b	UTSW	10	59,257,323 (GRCm39)	missense	probably damaging	1.00
R4822:Pla2g12b	UTSW	10	59,252,336 (GRCm39)	critical splice donor site	probably null
R5963:Pla2g12b	UTSW	10	59,239,780 (GRCm39)	missense	probably damaging	1.00
R7889:Pla2g12b	UTSW	10	59,257,062 (GRCm39)	splice site	probably null
R7897:Pla2g12b	UTSW	10	59,246,816 (GRCm39)	nonsense	probably null
R8075:Pla2g12b	UTSW	10	59,257,274 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTGCCACAAAACTGAGATG -3'
(R):5'- CACAGCTGTCTCTGAAACAGC -3'

Sequencing Primer
(F):5'- ATGCCAGCAAGTGTATCTGC -3'
(R):5'- TCTGAAACAGCCCCGACGTG -3'

Posted On

2017-10-10