Mutagenetix > Incidental Mutation

Incidental Mutation 'R0729:Pla2g2e'

67369

Institutional Source

Beutler Lab

Gene Symbol

Pla2g2e

Ensembl Gene

ENSMUSG00000028751

Gene Name

phospholipase A2, group IIE

Synonyms

mGIIEsPLA2s

MMRRC Submission

038910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0729 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

138877942-138882817 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 138880735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 43 (K43Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030531] [ENSMUST00000105803] [ENSMUST00000105804]

AlphaFold

Q9QUL3

Predicted Effect

probably benign
Transcript: ENSMUST00000030531
AA Change: E82A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000030531
Gene: ENSMUSG00000028751
AA Change: E82A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PA2c	20	136	9.74e-55	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105803
AA Change: K43Q

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101429
Gene: ENSMUSG00000028751
AA Change: K43Q

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105804
AA Change: E82A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000101430
Gene: ENSMUSG00000028751
AA Change: E82A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PA2c	20	136	9.74e-55	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal IgE antigen-dependent passive cutaneous anaphylaxis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,159,455	A828S	probably benign	Het
Acsm3	T	C	7: 119,783,984		probably benign	Het
Adamts12	G	A	15: 11,255,683	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,548,549	N849S	probably damaging	Het
Ankra2	A	G	13: 98,271,727	D228G	probably damaging	Het
Bicd1	T	C	6: 149,512,914	V375A	probably damaging	Het
Blvrb	A	G	7: 27,448,130	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,517,257	N573D	probably benign	Het
Calhm2	C	A	19: 47,132,917	G271V	possibly damaging	Het
Capn13	C	T	17: 73,322,069	G581E	probably damaging	Het
Capzb	T	C	4: 139,288,977		probably benign	Het
Casd1	T	C	6: 4,619,753		probably benign	Het
Clca4b	A	G	3: 144,928,350		probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Crx	A	G	7: 15,871,133		probably benign	Het
Cyp2c68	T	C	19: 39,739,550		probably benign	Het
Dcaf8	T	A	1: 172,172,654	D126E	probably benign	Het
Ddx31	T	C	2: 28,874,174	I464T	probably damaging	Het
Dhx32	G	A	7: 133,737,421	T155I	probably benign	Het
Elac2	C	A	11: 64,998,523	P567T	possibly damaging	Het
Fat4	A	G	3: 39,000,295		probably benign	Het
Fh1	T	G	1: 175,614,817	N156H	probably damaging	Het
Gm10064	T	C	5: 122,697,521		noncoding transcript	Het
Gm14137	A	G	2: 119,175,353	E131G	probably benign	Het
Gpr22	T	A	12: 31,709,313	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480	N68S	probably benign	Het
Gypa	C	T	8: 80,496,792	P66S	unknown	Het
Htr2a	A	T	14: 74,642,147	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,387,395	R827*	probably null	Het
Leo1	G	A	9: 75,457,138	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,608,414	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,745,579	Q225*	probably null	Het
Mamdc4	T	A	2: 25,570,036	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,661,567	P507L	probably damaging	Het
Methig1	T	A	15: 100,374,989	C68S	probably benign	Het
Metrn	C	T	17: 25,796,228		probably benign	Het
Mmp12	C	T	9: 7,358,290	T392I	possibly damaging	Het
Mss51	A	T	14: 20,483,092	I437N	probably damaging	Het
Mtus2	A	G	5: 148,077,287	T297A	probably benign	Het
Myo10	T	C	15: 25,722,157		probably benign	Het
Ncoa7	G	A	10: 30,691,579	P319S	probably benign	Het
Nlrp4d	A	T	7: 10,377,685		probably benign	Het
Obscn	A	G	11: 59,032,709	S6455P	probably damaging	Het
Olfr1447	T	C	19: 12,900,895	N295S	probably damaging	Het
Olfr884	G	T	9: 38,047,827	V202L	probably benign	Het
Pcdh12	A	G	18: 38,282,464	I536T	probably benign	Het
Pex5l	G	T	3: 32,954,536		probably benign	Het
Rasa4	T	C	5: 136,102,070		probably benign	Het
Rsf1	C	T	7: 97,679,027	R1079W	probably damaging	Het
Sez6	A	G	11: 77,976,585	T803A	probably benign	Het
Shcbp1	T	A	8: 4,736,297	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,219,031	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,601,470	Q54R	probably benign	Het
Smg1	C	A	7: 118,146,289		probably benign	Het
Spg7	A	G	8: 123,070,417	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,110,902	S2010T	probably damaging	Het
Sun1	T	A	5: 139,237,864		probably benign	Het
Sytl5	A	G	X: 9,994,497	E717G	probably damaging	Het
Tle1	A	T	4: 72,126,442		probably benign	Het
Tm9sf4	T	A	2: 153,191,145	V290E	probably damaging	Het
Tmem63b	A	G	17: 45,674,134	S179P	probably damaging	Het
Trpm3	T	A	19: 22,987,789	F1549L	probably benign	Het
Ubr4	A	T	4: 139,485,320	Y5063F	possibly damaging	Het
Uroc1	T	A	6: 90,336,955	Y75N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,904	T141A	probably benign	Het
Vps13c	A	G	9: 67,961,649	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,185,905		probably null	Het
Wrn	T	A	8: 33,248,918		probably null	Het
Zfp106	C	T	2: 120,555,248	V13M	probably damaging	Het
Zfp456	G	A	13: 67,366,544	H348Y	probably damaging	Het
Zfpm1	G	A	8: 122,336,659	R819H	probably benign	Het

Other mutations in Pla2g2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01688:Pla2g2e	APN	4	138879470	intron	probably benign
IGL02692:Pla2g2e	APN	4	138882559	utr 3 prime	probably benign
IGL02829:Pla2g2e	APN	4	138880436	nonsense	probably null
R3615:Pla2g2e	UTSW	4	138880374	missense	probably benign	0.00
R3616:Pla2g2e	UTSW	4	138880374	missense	probably benign	0.00
R5053:Pla2g2e	UTSW	4	138880375	missense	possibly damaging	0.90
R6325:Pla2g2e	UTSW	4	138880425	missense	probably damaging	1.00
R6597:Pla2g2e	UTSW	4	138880673	missense	unknown
R6991:Pla2g2e	UTSW	4	138880675	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACCTGGTCCAGTTTGGAGTGATG -3'
(R):5'- CGGGTGTTCCCACTCTTATGTGATG -3'

Sequencing Primer
(F):5'- CAGTACAATGACTATGGCTGC -3'
(R):5'- CCACTCTTATGTGATGATGGGATG -3'

Posted On

2013-09-03