Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01712:Pla2g4e'

104847

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pla2g4e

Ensembl Gene

ENSMUSG00000050211

Gene Name

phospholipase A2, group IVE

Synonyms

Pla2epsilon, 2310026J01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01712

Quality Score

Status

Chromosome

Chromosomal Location

120166412-120245335 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 120189403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090071]

AlphaFold

Q50L42

Predicted Effect

probably null
Transcript: ENSMUST00000090071

SMART Domains

Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
C2	82	182	3.42e-14	SMART
low complexity region	191	207	N/A	INTRINSIC
PLAc	311	818	5.17e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152263

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,826,279	V161A	probably benign	Het
Arhgdib	G	A	6: 136,924,197	T178M	probably damaging	Het
Atp11a	T	A	8: 12,851,138	I989K	probably benign	Het
Bcam	T	C	7: 19,758,767	S498G	probably damaging	Het
Bcas3	A	G	11: 85,581,048	I728V	probably damaging	Het
Cep57	G	T	9: 13,813,417	P119Q	possibly damaging	Het
Clip4	T	A	17: 71,799,041	I73N	probably damaging	Het
Cpa4	A	G	6: 30,590,816	D371G	possibly damaging	Het
Dnah7a	A	G	1: 53,423,270	S3721P	probably benign	Het
Fam166a	T	C	2: 25,218,792		probably benign	Het
Fcrla	T	C	1: 170,921,623		probably null	Het
Foxg1	T	C	12: 49,385,620	S379P	possibly damaging	Het
Gatm	T	A	2: 122,600,825	Y227F	possibly damaging	Het
Gm8298	T	A	3: 59,868,900	I164N	possibly damaging	Het
Grid2	A	T	6: 64,665,915	D887V	possibly damaging	Het
Gtpbp6	A	T	5: 110,104,379	I429N	probably benign	Het
Ighmbp2	A	G	19: 3,273,038		probably benign	Het
Irs4	T	C	X: 141,722,399	N934D	unknown	Het
Kif16b	T	A	2: 142,648,471	N1257I	probably damaging	Het
L1cam	T	C	X: 73,864,438	Y169C	probably damaging	Het
L3mbtl3	A	T	10: 26,276,235	M821K	probably damaging	Het
Lig3	A	G	11: 82,789,541		probably benign	Het
Lpin2	T	A	17: 71,215,068	D32E	probably damaging	Het
Mcoln3	T	C	3: 146,128,264		probably benign	Het
Mgst2	T	C	3: 51,664,571	V40A	probably damaging	Het
Mov10l1	T	C	15: 89,024,766	S997P	probably damaging	Het
Mycbpap	G	T	11: 94,512,655	H187Q	possibly damaging	Het
Olfr136	A	T	17: 38,335,957	T267S	probably benign	Het
Olfr652	T	C	7: 104,565,019	V266A	probably benign	Het
Onecut2	T	A	18: 64,386,602	S478T	probably damaging	Het
Pcdhb5	A	T	18: 37,321,253	I229F	probably damaging	Het
Pfas	A	G	11: 68,991,060	V933A	probably benign	Het
Phldb2	A	T	16: 45,751,429	I1200N	probably damaging	Het
Prr36	G	A	8: 4,215,243	P169L	probably damaging	Het
Rhot2	A	G	17: 25,841,360		probably null	Het
Serpina3f	C	T	12: 104,218,398	P267L	probably damaging	Het
Sppl2a	C	T	2: 126,904,903		probably benign	Het
Tas2r122	A	T	6: 132,711,762	M56K	possibly damaging	Het
Tbxas1	A	G	6: 39,081,060	T450A	probably benign	Het
Tex16	T	C	X: 112,093,754	S87P	probably damaging	Het
Them7	T	A	2: 105,378,885	F183L	possibly damaging	Het
Tmbim7	A	G	5: 3,670,074	T116A	probably damaging	Het
Tomm40	G	T	7: 19,703,363	S224R	probably benign	Het
Top3a	A	T	11: 60,761,736	I84N	probably damaging	Het
Vmn1r28	A	G	6: 58,265,408	T79A	probably benign	Het
Vmn2r61	A	T	7: 42,260,237	Y62F	probably damaging	Het
Zbtb42	T	C	12: 112,680,284	C298R	probably benign	Het
Zfp395	G	A	14: 65,386,387	E102K	probably damaging	Het

Other mutations in Pla2g4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Pla2g4e	APN	2	120185238	missense	probably benign
IGL01859:Pla2g4e	APN	2	120182733	missense	possibly damaging	0.70
IGL02334:Pla2g4e	APN	2	120187236	missense	probably benign
FR4737:Pla2g4e	UTSW	2	120244724	small deletion	probably benign
R0157:Pla2g4e	UTSW	2	120170181	missense	probably benign	0.00
R0578:Pla2g4e	UTSW	2	120244681	splice site	probably benign
R0675:Pla2g4e	UTSW	2	120200198	splice site	probably benign
R1278:Pla2g4e	UTSW	2	120168470	critical splice donor site	probably null
R1346:Pla2g4e	UTSW	2	120182772	missense	probably damaging	1.00
R1760:Pla2g4e	UTSW	2	120170046	missense	possibly damaging	0.50
R1773:Pla2g4e	UTSW	2	120244721	missense	probably benign
R1792:Pla2g4e	UTSW	2	120168474	missense	probably damaging	1.00
R2129:Pla2g4e	UTSW	2	120182811	missense	probably damaging	0.99
R2160:Pla2g4e	UTSW	2	120185206	missense	probably benign	0.00
R2191:Pla2g4e	UTSW	2	120191199	frame shift	probably null
R3901:Pla2g4e	UTSW	2	120168604	missense	probably benign	0.00
R4342:Pla2g4e	UTSW	2	120186446	intron	probably benign
R4414:Pla2g4e	UTSW	2	120182713	missense	probably benign
R4460:Pla2g4e	UTSW	2	120186382	missense	possibly damaging	0.53
R4581:Pla2g4e	UTSW	2	120186382	missense	possibly damaging	0.53
R4599:Pla2g4e	UTSW	2	120186382	missense	possibly damaging	0.53
R4601:Pla2g4e	UTSW	2	120186382	missense	possibly damaging	0.53
R4610:Pla2g4e	UTSW	2	120186382	missense	possibly damaging	0.53
R4611:Pla2g4e	UTSW	2	120186382	missense	possibly damaging	0.53
R4664:Pla2g4e	UTSW	2	120171188	missense	probably damaging	0.97
R4688:Pla2g4e	UTSW	2	120167933	missense	possibly damaging	0.82
R4691:Pla2g4e	UTSW	2	120174300	missense	probably damaging	1.00
R4944:Pla2g4e	UTSW	2	120171237	missense	probably benign	0.01
R5051:Pla2g4e	UTSW	2	120174304	missense	probably damaging	1.00
R5285:Pla2g4e	UTSW	2	120189504	missense	probably damaging	1.00
R5373:Pla2g4e	UTSW	2	120186395	missense	probably benign	0.30
R5374:Pla2g4e	UTSW	2	120186395	missense	probably benign	0.30
R5505:Pla2g4e	UTSW	2	120244775	missense	probably benign	0.08
R5702:Pla2g4e	UTSW	2	120188511	missense	possibly damaging	0.61
R6300:Pla2g4e	UTSW	2	120182738	missense	probably benign	0.00
R6711:Pla2g4e	UTSW	2	120171270	missense	probably benign	0.00
R6920:Pla2g4e	UTSW	2	120185314	missense	possibly damaging	0.82
R6961:Pla2g4e	UTSW	2	120174370	splice site	probably null
R6987:Pla2g4e	UTSW	2	120186380	missense	probably benign	0.01
R7028:Pla2g4e	UTSW	2	120170195	missense	probably damaging	1.00
R7138:Pla2g4e	UTSW	2	120171278	missense	probably damaging	1.00
R7300:Pla2g4e	UTSW	2	120191199	missense	probably damaging	1.00
R7355:Pla2g4e	UTSW	2	120181501	missense	possibly damaging	0.91
R7502:Pla2g4e	UTSW	2	120174338	splice site	probably null
R7849:Pla2g4e	UTSW	2	120185322	missense	probably benign	0.32
R8288:Pla2g4e	UTSW	2	120188509	critical splice donor site	probably null
R8686:Pla2g4e	UTSW	2	120244691	missense	probably damaging	0.98
R9003:Pla2g4e	UTSW	2	120176801	missense	probably benign	0.03
R9023:Pla2g4e	UTSW	2	120171237	missense	probably benign	0.01
R9261:Pla2g4e	UTSW	2	120189429	missense	probably benign	0.04
R9284:Pla2g4e	UTSW	2	120174249	splice site	probably benign
R9299:Pla2g4e	UTSW	2	120171723	missense	probably damaging	1.00
R9338:Pla2g4e	UTSW	2	120189433	missense	probably benign	0.07
R9555:Pla2g4e	UTSW	2	120244919	start gained	probably benign
R9604:Pla2g4e	UTSW	2	120185199	missense	probably benign	0.02
RF044:Pla2g4e	UTSW	2	120244724	small deletion	probably benign
Z1177:Pla2g4e	UTSW	2	120181523	missense	probably damaging	0.98

Posted On

2014-01-21