Mutagenetix > Incidental Mutation

Incidental Mutation 'R4492:Pla1a'

330806

Institutional Source

Beutler Lab

Gene Symbol

Pla1a

Ensembl Gene

ENSMUSG00000002847

Gene Name

phospholipase A1 member A

Synonyms

Ps-pla1

MMRRC Submission

041581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4492 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

38216479-38253507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38229972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 247 (A247T)

Ref Sequence

ENSEMBL: ENSMUSP00000002926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002926]

AlphaFold

Q8VI78

Predicted Effect

probably benign
Transcript: ENSMUST00000002926
AA Change: A247T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002926
Gene: ENSMUSG00000002847
AA Change: A247T

Domain	Start	End	E-Value	Type
Pfam:Lipase	15	336	9.4e-111	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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 is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	T	G	10: 89,561,676 (GRCm39)	I157L	probably benign	Het
Amph	T	C	13: 19,333,928 (GRCm39)	V663A	possibly damaging	Het
Anapc16	A	G	10: 59,826,724 (GRCm39)	S50P	possibly damaging	Het
Ank3	T	A	10: 69,644,755 (GRCm39)	V60D	probably damaging	Het
Btbd9	A	G	17: 30,746,545 (GRCm39)	Y94H	probably damaging	Het
Chil3	A	G	3: 106,063,017 (GRCm39)	I191T	probably damaging	Het
Clpb	T	C	7: 101,436,929 (GRCm39)	L668P	probably damaging	Het
Cyp2d22	G	A	15: 82,258,571 (GRCm39)	H97Y	probably benign	Het
Dhrs7	A	T	12: 72,699,899 (GRCm39)	N244K	probably damaging	Het
Dusp4	C	T	8: 35,274,890 (GRCm39)	T3M	possibly damaging	Het
Edc4	GGATTTTAGCCA	G	8: 106,611,700 (GRCm39)		probably null	Het
Etl4	G	A	2: 20,811,676 (GRCm39)	S1621N	possibly damaging	Het
Fam174a	T	C	1: 95,241,701 (GRCm39)	S54P	probably benign	Het
Fdxacb1	T	C	9: 50,681,547 (GRCm39)	F7S	probably damaging	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,812,468 (GRCm39)	L268H	probably damaging	Het
Gpr17	A	T	18: 32,080,304 (GRCm39)	I253N	possibly damaging	Het
H2-T23	A	T	17: 36,343,058 (GRCm39)	N106K	probably damaging	Het
Hspa4	T	C	11: 53,171,296 (GRCm39)	R303G	probably damaging	Het
Irgm1	G	A	11: 48,756,955 (GRCm39)		silent	Het
Jph1	A	C	1: 17,067,770 (GRCm39)	I114S	probably damaging	Het
Kcna1	C	T	6: 126,619,238 (GRCm39)	D361N	possibly damaging	Het
Kcna4	G	A	2: 107,126,436 (GRCm39)	R390Q	probably damaging	Het
Lum	C	A	10: 97,404,300 (GRCm39)	P65H	probably damaging	Het
Mc4r	A	G	18: 66,992,711 (GRCm39)	L134P	probably benign	Het
Mroh8	A	T	2: 157,099,960 (GRCm39)	I248N	probably damaging	Het
Nos2	A	G	11: 78,840,921 (GRCm39)	T677A	probably benign	Het
Nup37	T	A	10: 88,010,791 (GRCm39)	F257I	possibly damaging	Het
Or13c3	T	C	4: 52,855,764 (GRCm39)	I250V	probably benign	Het
Or6k6	C	T	1: 173,944,770 (GRCm39)	V271I	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pdzd2	A	C	15: 12,419,567 (GRCm39)	M501R	possibly damaging	Het
Pitx1	T	C	13: 55,976,465 (GRCm39)	K65E	probably benign	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Prss8	A	G	7: 127,528,979 (GRCm39)	S26P	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rock2	T	A	12: 17,027,684 (GRCm39)	C1334S	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Serpina6	A	G	12: 103,613,146 (GRCm39)	W385R	probably damaging	Het
Slc12a5	T	C	2: 164,821,263 (GRCm39)	M249T	probably benign	Het
Srsf9	T	A	5: 115,470,651 (GRCm39)	I117N	probably damaging	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc21a	T	C	9: 119,770,346 (GRCm39)	V139A	probably benign	Het
Zfp236	A	T	18: 82,648,125 (GRCm39)	V1012D	probably damaging	Het
Zfp612	C	A	8: 110,815,929 (GRCm39)	Q379K	probably damaging	Het
Zfp930	C	T	8: 69,680,898 (GRCm39)	Q198*	probably null	Het

Other mutations in Pla1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Pla1a	APN	16	38,235,212 (GRCm39)	missense	probably damaging	1.00
IGL01086:Pla1a	APN	16	38,227,984 (GRCm39)	missense	probably benign	0.02
IGL01126:Pla1a	APN	16	38,228,001 (GRCm39)	missense	probably benign
R1674:Pla1a	UTSW	16	38,235,172 (GRCm39)	missense	probably benign	0.00
R2101:Pla1a	UTSW	16	38,235,730 (GRCm39)	missense	probably damaging	0.99
R2415:Pla1a	UTSW	16	38,228,112 (GRCm39)	missense	possibly damaging	0.69
R2987:Pla1a	UTSW	16	38,228,104 (GRCm39)	missense	probably damaging	1.00
R5365:Pla1a	UTSW	16	38,237,569 (GRCm39)	missense	probably benign	0.01
R5424:Pla1a	UTSW	16	38,235,137 (GRCm39)	missense	probably damaging	1.00
R6349:Pla1a	UTSW	16	38,237,486 (GRCm39)	missense	probably benign	0.04
R6388:Pla1a	UTSW	16	38,217,834 (GRCm39)	missense	probably benign
R6443:Pla1a	UTSW	16	38,229,949 (GRCm39)	splice site	probably null
R6996:Pla1a	UTSW	16	38,217,830 (GRCm39)	missense	probably benign	0.04
R7021:Pla1a	UTSW	16	38,221,244 (GRCm39)	missense	probably damaging	0.97
R7519:Pla1a	UTSW	16	38,235,208 (GRCm39)	missense	possibly damaging	0.82
R8715:Pla1a	UTSW	16	38,230,000 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCAATCGTTGGTGCTTAGC -3'
(R):5'- TGTTTGGAACGAGGACACCG -3'

Sequencing Primer
(F):5'- TCTTTCAAAAAGAGAACTCCAGAGG -3'
(R):5'- GACTCCCAACCACTCTGATGTG -3'

Posted On

2015-07-21