Mutagenetix > Incidental Mutation

Incidental Mutation 'R3765:Pla2g12b'

274665

Institutional Source

Beutler Lab

Gene Symbol

Pla2g12b

Ensembl Gene

ENSMUSG00000009646

Gene Name

phospholipase A2, group XIIB

Synonyms

Pla2g13, 2010002E04Rik, hlb218

MMRRC Submission

040742-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R3765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59239482-59257798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59257323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 169 (V169M)

Ref Sequence

ENSEMBL: ENSMUSP00000009790 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000009790
AA Change: V169M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646
AA Change: V169M

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

probably benign
Transcript: ENSMUST00000162643

SMART Domains

Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,258,585 (GRCm39)	V403A	probably benign	Het
Arid2	T	C	15: 96,268,595 (GRCm39)	S903P	probably benign	Het
Arl6ip6	T	A	2: 53,082,243 (GRCm39)	W37R	probably damaging	Het
Bag3	C	T	7: 128,141,995 (GRCm39)	T162I	probably benign	Het
C4b	G	A	17: 34,948,814 (GRCm39)	P1545S	probably damaging	Het
Ccdc185	T	A	1: 182,575,117 (GRCm39)	H524L	possibly damaging	Het
Cfap43	T	C	19: 47,824,014 (GRCm39)	N119S	probably benign	Het
Churc1	C	A	12: 76,820,057 (GRCm39)	S22*	probably null	Het
Crbn	T	C	6: 106,771,987 (GRCm39)	K106E	possibly damaging	Het
Dag1	C	T	9: 108,085,398 (GRCm39)	G581E	probably damaging	Het
Dpp4	T	A	2: 62,216,780 (GRCm39)	T92S	probably benign	Het
Fam135a	T	C	1: 24,094,958 (GRCm39)	T137A	possibly damaging	Het
Fcsk	A	G	8: 111,613,736 (GRCm39)	I775T	probably benign	Het
Fermt1	T	C	2: 132,748,622 (GRCm39)	D667G	possibly damaging	Het
Foxl2	T	A	9: 98,838,039 (GRCm39)	I109N	probably damaging	Het
Frk	A	G	10: 34,360,001 (GRCm39)	M1V	probably null	Het
Gstm2	A	G	3: 107,891,346 (GRCm39)	F124S	probably damaging	Het
Hmcn1	T	C	1: 150,620,776 (GRCm39)	S1145G	possibly damaging	Het
Ints10	A	G	8: 69,277,771 (GRCm39)	T682A	possibly damaging	Het
Jmy	T	C	13: 93,601,219 (GRCm39)	M396V	possibly damaging	Het
Ldb3	A	T	14: 34,300,639 (GRCm39)		probably null	Het
Mre11a	A	G	9: 14,721,143 (GRCm39)	N354S	probably benign	Het
Nbea	A	G	3: 55,912,970 (GRCm39)	V939A	probably damaging	Het
Nphs1	T	C	7: 30,170,635 (GRCm39)	S928P	probably damaging	Het
Or5b109	G	A	19: 13,211,795 (GRCm39)	M60I	probably damaging	Het
Or7a40	A	G	16: 16,491,179 (GRCm39)	V222A	probably benign	Het
Or8g34	T	A	9: 39,372,920 (GRCm39)	Y61*	probably null	Het
Or9e1	T	C	11: 58,732,120 (GRCm39)	F60S	probably damaging	Het
Polr1c	C	T	17: 46,558,850 (GRCm39)	V14M	probably damaging	Het
Prg4	G	A	1: 150,327,122 (GRCm39)	S898L	probably damaging	Het
Prmt6	C	A	3: 110,157,510 (GRCm39)	E260*	probably null	Het
Ptx4	A	G	17: 25,341,842 (GRCm39)	T106A	probably benign	Het
Rab3il1	A	G	19: 10,005,673 (GRCm39)	T87A	probably damaging	Het
Sbf2	A	G	7: 109,974,788 (GRCm39)	V783A	probably damaging	Het
Scn2a	A	C	2: 65,513,054 (GRCm39)	D209A	possibly damaging	Het
Setd2	T	C	9: 110,423,314 (GRCm39)	L345P	probably damaging	Het
Slc18b1	A	G	10: 23,674,647 (GRCm39)	D34G	probably damaging	Het
Slc9c1	A	T	16: 45,411,244 (GRCm39)	M934L	possibly damaging	Het
Slx4	A	G	16: 3,798,850 (GRCm39)	V1357A	probably damaging	Het
Spidr	T	C	16: 15,786,504 (GRCm39)	E413G	probably benign	Het
Taar1	A	G	10: 23,797,205 (GRCm39)	Y301C	probably damaging	Het
Tada2b	A	T	5: 36,633,761 (GRCm39)	D197E	probably benign	Het
Taf1c	G	T	8: 120,327,224 (GRCm39)	Y418*	probably null	Het
Tanc2	A	G	11: 105,805,796 (GRCm39)	D394G	probably damaging	Het
Tnpo3	T	C	6: 29,579,688 (GRCm39)	D235G	probably benign	Het
Tns3	G	A	11: 8,401,133 (GRCm39)	A1055V	probably benign	Het
Wdfy3	A	G	5: 102,009,266 (GRCm39)	Y2767H	probably damaging	Het
Zfhx3	A	G	8: 109,519,394 (GRCm39)	N172S	probably damaging	Het
Zfp839	T	C	12: 110,821,597 (GRCm39)	V137A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCCTCACTTGAAGGTATGCTG -3'
(R):5'- TCAAAGGACAAGGCCTGCTG -3'

Sequencing Primer
(F):5'- TGAAGGTATGCTGTTCTTTTAACTC -3'
(R):5'- CCAGCTCGTGATTTCCGAAG -3'

Posted On

2015-04-02