Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Pla2g12b'

298115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pla2g12b

Ensembl Gene

ENSMUSG00000009646

Gene Name

phospholipase A2, group XIIB

Synonyms

Pla2g13, 2010002E04Rik, hlb218

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

59239482-59257798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59239692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 34 (W34R)

Ref Sequence

ENSEMBL: ENSMUSP00000009790 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000009790
AA Change: W34R

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

SMART Domains

Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646
AA Change: W34R

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

Coding Region Coverage

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,796,618 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,975,068 (GRCm39)	I109V	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Adamts18	C	A	8: 114,425,704 (GRCm39)	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,666,926 (GRCm39)	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,370,802 (GRCm39)	T694A	probably damaging	Het
Adgra2	G	A	8: 27,609,250 (GRCm39)	V609I	probably benign	Het
Agbl3	A	G	6: 34,800,006 (GRCm39)	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,505,822 (GRCm39)	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,554,599 (GRCm39)	I245N	probably damaging	Het
Aqp9	A	G	9: 71,039,922 (GRCm39)	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,579,553 (GRCm39)	E465G	probably damaging	Het
Btrc	G	T	19: 45,411,573 (GRCm39)	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,121,539 (GRCm39)	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,102,912 (GRCm39)	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686 (GRCm39)	S25P	probably benign	Het
Dnajc6	T	A	4: 101,496,550 (GRCm39)	W838R	probably damaging	Het
Fam78a	T	A	2: 31,959,568 (GRCm39)	T181S	probably damaging	Het
Fat1	A	G	8: 45,504,435 (GRCm39)	T4600A	probably damaging	Het
Fbxo31	A	T	8: 122,293,083 (GRCm39)	Y101N	probably damaging	Het
Glmp	A	G	3: 88,232,389 (GRCm39)	M1V	probably null	Het
Gsdmc	T	A	15: 63,673,782 (GRCm39)	T168S	probably benign	Het
Has1	C	T	17: 18,068,560 (GRCm39)	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,344,823 (GRCm39)	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,369,103 (GRCm39)	M292I	probably benign	Het
Kmo	A	T	1: 175,465,485 (GRCm39)	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,961,414 (GRCm39)	T608I	possibly damaging	Het
Mical2	A	T	7: 111,923,197 (GRCm39)	N635I	probably benign	Het
Nags	T	C	11: 102,038,767 (GRCm39)	S403P	probably damaging	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Ncan	A	T	8: 70,555,112 (GRCm39)	N1018K	probably damaging	Het
Notch3	T	A	17: 32,373,705 (GRCm39)		probably benign	Het
Nup93	C	T	8: 94,954,461 (GRCm39)	Q53*	probably null	Het
Pdk2	T	A	11: 94,919,412 (GRCm39)	M288L	probably benign	Het
Pkd1	A	G	17: 24,792,789 (GRCm39)	Y1492C	probably damaging	Het
Pla2g6	T	A	15: 79,183,294 (GRCm39)	D511V	possibly damaging	Het
Plin2	C	A	4: 86,576,929 (GRCm39)	M265I	probably benign	Het
Ppp6c	A	T	2: 39,096,669 (GRCm39)	F78I	probably damaging	Het
Prop1	A	T	11: 50,841,773 (GRCm39)	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,988,828 (GRCm39)	E222D	probably damaging	Het
Rtkn	A	T	6: 83,128,905 (GRCm39)	I454F	probably damaging	Het
Serinc2	T	C	4: 130,154,567 (GRCm39)	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,266,493 (GRCm39)	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,240,136 (GRCm39)		probably benign	Het
Spg7	G	A	8: 123,803,717 (GRCm39)	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916 (GRCm39)	D40G	probably benign	Het
Tmcc2	A	G	1: 132,285,317 (GRCm39)	L683P	probably damaging	Het
Triobp	T	C	15: 78,857,689 (GRCm39)	S1097P	probably benign	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Ttll6	T	C	11: 96,045,526 (GRCm39)	I581T	probably benign	Het
Usp29	A	G	7: 6,966,352 (GRCm39)		probably null	Het
Vgll4	A	G	6: 114,839,254 (GRCm39)	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,003,100 (GRCm39)	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,437,930 (GRCm39)	T185A	probably benign	Het
Vwce	A	G	19: 10,622,400 (GRCm39)	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462 (GRCm39)	E2194G	possibly 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
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
R6140:Pla2g12b	UTSW	10	59,257,263 (GRCm39)	unclassified	probably benign
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

Posted On

2015-04-16