Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00095:Pla2g6'

901

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

79286228-79328390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79289241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 643 (T643A)

Ref Sequence

ENSEMBL: ENSMUSP00000134672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000165408] [ENSMUST00000166977] [ENSMUST00000169462] [ENSMUST00000170955] [ENSMUST00000172403] [ENSMUST00000173163] [ENSMUST00000174021]

AlphaFold

P97819

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047816
AA Change: T588A

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: T588A

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 benign
Transcript: ENSMUST00000165408

SMART Domains

Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126

Domain	Start	End	E-Value	Type
Pfam:IMD	16	226	1e-90	PFAM
low complexity region	232	244	N/A	INTRINSIC
SH3	327	386	2.54e-9	SMART
low complexity region	389	409	N/A	INTRINSIC
low complexity region	443	472	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166977
AA Change: T588A

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: T588A

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: ENSMUST00000169462

SMART Domains

Protein: ENSMUSP00000130698
Gene: ENSMUSG00000018126

Domain	Start	End	E-Value	Type
Pfam:IMD	16	226	3.8e-83	PFAM
low complexity region	232	244	N/A	INTRINSIC
low complexity region	258	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170955

SMART Domains

Protein: ENSMUSP00000125946
Gene: ENSMUSG00000018126

Domain	Start	End	E-Value	Type
Pfam:IMD	16	211	1.4e-75	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172403
AA Change: T588A

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: T588A

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

possibly damaging
Transcript: ENSMUST00000173163
AA Change: T588A

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: T588A

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 damaging
Transcript: ENSMUST00000174021
AA Change: T643A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: T643A

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: ENSMUST00000174375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229011

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Pla2g6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Pla2g6	APN	15	79287747	missense	probably damaging	1.00
IGL01432:Pla2g6	APN	15	79317968	start codon destroyed	probably null	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
R9105:Pla2g6	UTSW	15	79299197	critical splice acceptor site	probably null
R9280:Pla2g6	UTSW	15	79313114	missense	probably benign	0.09
R9471:Pla2g6	UTSW	15	79317839	missense	probably damaging	0.99

Posted On

2011-07-12