Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01432:Pla2g6'

84180

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pla2g6

Ensembl Gene

ENSMUSG00000042632

Gene Name

phospholipase A2, group VI

Synonyms

iPLA2beta, iPLA2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

79286228-79328390 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 79317968 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000133998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000172936] [ENSMUST00000173109] [ENSMUST00000173163] [ENSMUST00000173632] [ENSMUST00000174021]

Predicted Effect

probably null
Transcript: ENSMUST00000047816
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166977
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000172403
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000172936
AA Change: M1K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably null
Transcript: ENSMUST00000173109
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133554
Gene: ENSMUSG00000042632
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000173163
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Pfam:Patatin	427	611	6.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173178

Predicted Effect

probably null
Transcript: ENSMUST00000173632
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
Blast:ANK	185	204	7e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000174021
AA Change: M1K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	96	109	N/A	INTRINSIC
ANK	151	181	2.97e-3	SMART
ANK	185	215	4.6e0	SMART
ANK	219	248	3.23e-4	SMART
ANK	286	312	1.52e0	SMART
ANK	316	345	6.46e-4	SMART
ANK	349	378	2.02e-5	SMART
Blast:ANK	382	411	2e-8	BLAST
Pfam:Patatin	482	666	2.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174089

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 is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display impaired male fertility and asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,003,759	V3166E	possibly damaging	Het
Aldh9a1	T	C	1: 167,355,785	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,565,781	I164F	probably damaging	Het
Anapc1	C	A	2: 128,633,408	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,319,433	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,400,205	K892E	probably benign	Het
Bpnt1	G	A	1: 185,354,021	W261*	probably null	Het
Calu	A	G	6: 29,356,553	D26G	possibly damaging	Het
Ccdc113	C	T	8: 95,538,257		probably benign	Het
Cd109	T	C	9: 78,698,123	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,830,947	K290R	probably damaging	Het
Cep131	G	A	11: 120,077,009	A140V	possibly damaging	Het
Chn1	A	T	2: 73,631,752	C236S	probably damaging	Het
Cntn4	T	A	6: 106,678,334		probably benign	Het
Crispld1	A	T	1: 17,746,801	Q194L	probably benign	Het
Csmd3	A	G	15: 47,733,499	V1981A	probably damaging	Het
Cttn	A	G	7: 144,461,306	I55T	probably damaging	Het
Ddx46	G	T	13: 55,638,022		probably benign	Het
Diaph1	A	T	18: 37,897,504	I299N	unknown	Het
Dll1	A	G	17: 15,368,506	Y636H	probably damaging	Het
Eng	A	T	2: 32,669,532	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,589,876	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,717,975	T461S	probably benign	Het
Gbf1	T	C	19: 46,279,995	Y1269H	probably damaging	Het
Gm10436	T	C	12: 88,176,432	K139E	probably benign	Het
Gm5852	A	G	3: 93,727,779	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,182,193	G323R	probably damaging	Het
Gpr155	T	A	2: 73,351,885	E661D	possibly damaging	Het
Grik4	A	T	9: 42,521,176	C842S	probably damaging	Het
Iws1	A	G	18: 32,083,466		probably benign	Het
Kif5c	A	G	2: 49,701,077	T314A	probably damaging	Het
Klhdc1	A	C	12: 69,251,977	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,809,096	T3865A	unknown	Het
Lgr5	T	C	10: 115,453,092	K477R	probably damaging	Het
Ly75	A	T	2: 60,376,007	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,625,639	M26K	probably damaging	Het
Mettl2	T	C	11: 105,126,522	V9A	probably benign	Het
Mgat5b	A	G	11: 116,973,376	D456G	probably benign	Het
Mstn	A	G	1: 53,066,530	T344A	possibly damaging	Het
Npr1	T	A	3: 90,463,236	I308F	possibly damaging	Het
Oasl1	G	A	5: 114,937,407	V509M	probably benign	Het
Obscn	T	C	11: 59,033,757	M5727V	probably benign	Het
Olfr1219	T	A	2: 89,074,201	I297F	probably benign	Het
Olfr262	A	G	19: 12,241,527	S45P	probably damaging	Het
Olfr710	T	C	7: 106,944,541	I153M	possibly damaging	Het
Olfr726	T	A	14: 50,083,947	T245S	probably benign	Het
Pcgf1	T	C	6: 83,078,417	I11T	possibly damaging	Het
Phactr3	T	C	2: 178,283,100	V276A	probably benign	Het
Plec	T	C	15: 76,190,528	E413G	probably damaging	Het
Plxna2	G	T	1: 194,644,318	A187S	possibly damaging	Het
Polq	A	T	16: 37,071,822		probably benign	Het
Prss39	A	G	1: 34,502,135	D240G	probably benign	Het
Ptpn12	A	T	5: 20,998,555	Y408*	probably null	Het
Ptprt	A	G	2: 162,268,079		probably benign	Het
Rnf6	A	T	5: 146,216,121	S95T	possibly damaging	Het
Ryr2	T	C	13: 11,851,204	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,414,066	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,236,286	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,431,290	T527A	probably damaging	Het
Smg9	T	C	7: 24,421,266		probably null	Het
Snx25	A	G	8: 46,105,160	L270P	probably damaging	Het
Ssh1	G	T	5: 113,958,822	T165N	probably benign	Het
Stk24	T	A	14: 121,302,806	E127V	probably damaging	Het
Suco	A	G	1: 161,834,120	V914A	probably damaging	Het
Tbcd	T	A	11: 121,475,680		probably benign	Het
Tbcel	A	T	9: 42,444,521	L114Q	possibly damaging	Het
Trpm1	A	G	7: 64,235,019	D816G	probably benign	Het
Uhrf1	G	A	17: 56,318,250	V566M	probably damaging	Het
Ulk4	T	A	9: 121,266,301	E95D	probably damaging	Het
Vmn1r40	T	C	6: 89,714,219	M6T	probably benign	Het
Vmn2r59	C	T	7: 42,012,559	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,240	H367N	probably benign	Het
Wdr66	A	G	5: 123,279,952	I81M	possibly damaging	Het
Xpo6	A	G	7: 126,124,381	V585A	probably benign	Het

Other mutations in Pla2g6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Pla2g6	APN	15	79289241	missense	probably damaging	0.96
IGL00906:Pla2g6	APN	15	79287747	missense	probably damaging	1.00
IGL01640:Pla2g6	APN	15	79304313	missense	probably benign
IGL01715:Pla2g6	APN	15	79317857	missense	probably benign	0.00
IGL01943:Pla2g6	APN	15	79313116	missense	probably null	0.00
IGL02551:Pla2g6	APN	15	79299094	missense	possibly damaging	0.95
IGL03120:Pla2g6	APN	15	79286860	missense	probably damaging	1.00
IGL03193:Pla2g6	APN	15	79317785	missense	probably damaging	0.98
IGL03194:Pla2g6	APN	15	79317785	missense	probably damaging	0.98
IGL03205:Pla2g6	APN	15	79317785	missense	probably damaging	0.98
IGL03289:Pla2g6	APN	15	79317785	missense	probably damaging	0.98
R0288:Pla2g6	UTSW	15	79286906	splice site	probably benign
R0631:Pla2g6	UTSW	15	79306396	missense	probably damaging	1.00
R1216:Pla2g6	UTSW	15	79306435	missense	probably benign	0.18
R1617:Pla2g6	UTSW	15	79289141	missense	probably benign	0.03
R1785:Pla2g6	UTSW	15	79306345	missense	probably benign	0.02
R2025:Pla2g6	UTSW	15	79286764	missense	probably damaging	1.00
R2079:Pla2g6	UTSW	15	79312994	missense	probably damaging	1.00
R3952:Pla2g6	UTSW	15	79313096	missense	probably damaging	1.00
R4774:Pla2g6	UTSW	15	79287618	missense	probably damaging	1.00
R4826:Pla2g6	UTSW	15	79308679	missense	possibly damaging	0.96
R5093:Pla2g6	UTSW	15	79287128	missense	probably benign	0.12
R5327:Pla2g6	UTSW	15	79302637	missense	probably benign	0.03
R5390:Pla2g6	UTSW	15	79289693	missense	possibly damaging	0.72
R5419:Pla2g6	UTSW	15	79299142	missense	possibly damaging	0.82
R5432:Pla2g6	UTSW	15	79302617	critical splice donor site	probably null
R5633:Pla2g6	UTSW	15	79299142	missense	possibly damaging	0.82
R5829:Pla2g6	UTSW	15	79287693	missense	possibly damaging	0.73
R5930:Pla2g6	UTSW	15	79303528	intron	probably benign
R6228:Pla2g6	UTSW	15	79305724	missense	probably benign	0.00
R6241:Pla2g6	UTSW	15	79304392	missense	probably benign	0.02
R6339:Pla2g6	UTSW	15	79308816	missense	probably damaging	0.99
R6485:Pla2g6	UTSW	15	79307372	missense	probably benign	0.00
R6754:Pla2g6	UTSW	15	79306310	missense	probably benign	0.01
R7419:Pla2g6	UTSW	15	79305698	splice site	probably null
R7425:Pla2g6	UTSW	15	79308733	missense	probably damaging	1.00
R7710:Pla2g6	UTSW	15	79287158	missense	probably damaging	0.98
R7738:Pla2g6	UTSW	15	79297433	nonsense	probably null
R7768:Pla2g6	UTSW	15	79297314	missense	probably damaging	1.00
R7796:Pla2g6	UTSW	15	79317825	missense	probably benign	0.32
R8184:Pla2g6	UTSW	15	79287122	missense	probably benign	0.02
R8359:Pla2g6	UTSW	15	79287170	missense	probably damaging	0.98

Posted On

2013-11-11