Mutagenetix > Incidental Mutation

Incidental Mutation 'R0675:Pla2g4e'

218602

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4e

Ensembl Gene

ENSMUSG00000050211

Gene Name

phospholipase A2, group IVE

Synonyms

Pla2epsilon, 2310026J01Rik

MMRRC Submission

038860-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0675 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

119996893-120075816 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 120030679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087525 (fasta)

Gene Model

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

AlphaFold

Q50L42

Predicted Effect

probably benign
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: ENSMUST00000152263

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (88/91)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,024,124 (GRCm39)		probably benign	Het
Aire	T	C	10: 77,870,327 (GRCm39)		probably benign	Het
Akap12	T	C	10: 4,303,315 (GRCm39)	S42P	probably benign	Het
Amigo1	T	C	3: 108,098,985 (GRCm39)		probably benign	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Ank1	T	A	8: 23,600,400 (GRCm39)		probably benign	Het
Ano5	A	T	7: 51,224,558 (GRCm39)	T472S	probably damaging	Het
Arid3c	T	C	4: 41,725,958 (GRCm39)	D215G	probably damaging	Het
Cd200	T	C	16: 45,217,473 (GRCm39)	I73V	probably benign	Het
Cd47	T	C	16: 49,727,162 (GRCm39)	I318T	possibly damaging	Het
Cep290	A	G	10: 100,404,675 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,835,499 (GRCm39)	S66P	possibly damaging	Het
Cfap46	C	T	7: 139,255,950 (GRCm39)	C300Y	probably damaging	Het
Chd1	T	A	17: 15,978,523 (GRCm39)		probably benign	Het
Chd5	C	A	4: 152,470,407 (GRCm39)	T1913K	probably benign	Het
Cimip3	T	C	17: 47,724,701 (GRCm39)	E140G	probably benign	Het
Clec4b1	A	G	6: 123,048,405 (GRCm39)	Y180C	probably damaging	Het
Cntnap5c	A	T	17: 58,341,990 (GRCm39)	D227V	probably damaging	Het
Col19a1	C	G	1: 24,614,536 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,208,145 (GRCm39)	M1270K	probably benign	Het
Cyp2c66	T	A	19: 39,175,060 (GRCm39)	F487I	possibly damaging	Het
Dpp8	T	C	9: 64,973,784 (GRCm39)		probably benign	Het
Duoxa1	A	T	2: 122,136,861 (GRCm39)		probably benign	Het
Edil3	A	G	13: 89,325,399 (GRCm39)	K263E	probably damaging	Het
Fat2	A	G	11: 55,200,035 (GRCm39)	L1013P	probably damaging	Het
Fras1	T	C	5: 96,815,246 (GRCm39)		probably benign	Het
Gab1	A	G	8: 81,496,297 (GRCm39)	S668P	probably damaging	Het
Galnt14	T	C	17: 73,852,030 (GRCm39)	T130A	probably damaging	Het
Gm10192	G	A	4: 97,071,109 (GRCm39)	H99Y	unknown	Het
Gm5592	A	G	7: 40,938,811 (GRCm39)	T698A	possibly damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Gsdma3	A	G	11: 98,522,017 (GRCm39)	K149R	probably benign	Het
Igkv4-71	A	G	6: 69,220,411 (GRCm39)	S29P	probably damaging	Het
Igsf10	C	T	3: 59,236,015 (GRCm39)	V1389I	probably benign	Het
Ik	T	C	18: 36,880,386 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,962 (GRCm39)	P1203S	probably damaging	Het
Iqsec2	G	A	X: 150,987,120 (GRCm39)	E398K	possibly damaging	Het
Jmjd6	A	G	11: 116,731,353 (GRCm39)	V232A	probably damaging	Het
Klhdc9	G	A	1: 171,187,895 (GRCm39)	T112M	possibly damaging	Het
Marcks	A	G	10: 37,017,181 (GRCm39)		probably benign	Het
Mctp2	T	A	7: 71,732,918 (GRCm39)	T829S	probably damaging	Het
Mroh2a	C	A	1: 88,156,102 (GRCm39)	A78E	probably damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Mtmr14	A	T	6: 113,247,608 (GRCm39)	H518L	probably damaging	Het
Myo5c	T	C	9: 75,185,571 (GRCm39)	M978T	probably benign	Het
Nlrc3	T	C	16: 3,766,775 (GRCm39)	I1015V	probably benign	Het
Nlrp5	C	A	7: 23,116,842 (GRCm39)	Q189K	possibly damaging	Het
Or1e26	A	C	11: 73,480,078 (GRCm39)	L162R	probably damaging	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or51f1d	A	G	7: 102,700,909 (GRCm39)	I135V	probably benign	Het
Or8k35	T	C	2: 86,424,423 (GRCm39)	I250V	probably benign	Het
Otof	T	A	5: 30,539,705 (GRCm39)	Y1051F	probably benign	Het
Pcdhb14	C	A	18: 37,581,392 (GRCm39)	T166K	possibly damaging	Het
Polr3gl	T	C	3: 96,489,471 (GRCm39)	E20G	probably damaging	Het
Psmd1	A	G	1: 86,009,761 (GRCm39)	D295G	probably benign	Het
Ptpn21	C	A	12: 98,654,475 (GRCm39)	A831S	probably benign	Het
Pwwp3a	T	A	10: 80,065,914 (GRCm39)	V56E	probably damaging	Het
Rd3l	T	C	12: 111,946,596 (GRCm39)	D60G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,332,660 (GRCm39)	D2624G	probably benign	Het
Sec31a	T	C	5: 100,541,066 (GRCm39)	D347G	probably damaging	Het
Sema4g	G	A	19: 44,986,026 (GRCm39)	R289H	probably damaging	Het
Sema5b	C	T	16: 35,480,703 (GRCm39)	T761I	probably benign	Het
Septin1	A	T	7: 126,816,171 (GRCm39)	F86L	probably damaging	Het
Shank3	T	C	15: 89,415,591 (GRCm39)	V627A	possibly damaging	Het
Slc25a46	C	A	18: 31,742,641 (GRCm39)	G75V	probably benign	Het
Slc45a2	T	A	15: 11,025,864 (GRCm39)	Y405N	probably damaging	Het
Spidr	T	C	16: 15,855,498 (GRCm39)	E339G	probably damaging	Het
Sptbn1	A	T	11: 30,067,903 (GRCm39)	H1770Q	probably damaging	Het
Srgap1	T	C	10: 121,628,140 (GRCm39)	Y944C	probably damaging	Het
Supt20	C	T	3: 54,614,390 (GRCm39)	T169I	probably damaging	Het
Tie1	G	A	4: 118,336,966 (GRCm39)	Q587*	probably null	Het
Tmem214	A	G	5: 31,029,169 (GRCm39)	T203A	possibly damaging	Het
Tmprss15	C	A	16: 78,782,838 (GRCm39)	S742I	probably damaging	Het
Wdr87-ps	T	C	7: 29,231,942 (GRCm39)		noncoding transcript	Het
Zfhx2	A	G	14: 55,300,620 (GRCm39)	V2377A	probably damaging	Het
Zfp763	G	A	17: 33,238,774 (GRCm39)	H124Y	possibly damaging	Het
Zfp846	T	C	9: 20,504,853 (GRCm39)	S238P	probably benign	Het

Other mutations in Pla2g4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Pla2g4e	APN	2	120,015,719 (GRCm39)	missense	probably benign
IGL01712:Pla2g4e	APN	2	120,019,884 (GRCm39)	critical splice donor site	probably null
IGL01859:Pla2g4e	APN	2	120,013,214 (GRCm39)	missense	possibly damaging	0.70
IGL02334:Pla2g4e	APN	2	120,017,717 (GRCm39)	missense	probably benign
FR4737:Pla2g4e	UTSW	2	120,075,205 (GRCm39)	small deletion	probably benign
R0157:Pla2g4e	UTSW	2	120,000,662 (GRCm39)	missense	probably benign	0.00
R0578:Pla2g4e	UTSW	2	120,075,162 (GRCm39)	splice site	probably benign
R1278:Pla2g4e	UTSW	2	119,998,951 (GRCm39)	critical splice donor site	probably null
R1346:Pla2g4e	UTSW	2	120,013,253 (GRCm39)	missense	probably damaging	1.00
R1760:Pla2g4e	UTSW	2	120,000,527 (GRCm39)	missense	possibly damaging	0.50
R1773:Pla2g4e	UTSW	2	120,075,202 (GRCm39)	missense	probably benign
R1792:Pla2g4e	UTSW	2	119,998,955 (GRCm39)	missense	probably damaging	1.00
R2129:Pla2g4e	UTSW	2	120,013,292 (GRCm39)	missense	probably damaging	0.99
R2160:Pla2g4e	UTSW	2	120,015,687 (GRCm39)	missense	probably benign	0.00
R2191:Pla2g4e	UTSW	2	120,021,680 (GRCm39)	frame shift	probably null
R3901:Pla2g4e	UTSW	2	119,999,085 (GRCm39)	missense	probably benign	0.00
R4342:Pla2g4e	UTSW	2	120,016,927 (GRCm39)	intron	probably benign
R4414:Pla2g4e	UTSW	2	120,013,194 (GRCm39)	missense	probably benign
R4460:Pla2g4e	UTSW	2	120,016,863 (GRCm39)	missense	possibly damaging	0.53
R4581:Pla2g4e	UTSW	2	120,016,863 (GRCm39)	missense	possibly damaging	0.53
R4599:Pla2g4e	UTSW	2	120,016,863 (GRCm39)	missense	possibly damaging	0.53
R4601:Pla2g4e	UTSW	2	120,016,863 (GRCm39)	missense	possibly damaging	0.53
R4610:Pla2g4e	UTSW	2	120,016,863 (GRCm39)	missense	possibly damaging	0.53
R4611:Pla2g4e	UTSW	2	120,016,863 (GRCm39)	missense	possibly damaging	0.53
R4664:Pla2g4e	UTSW	2	120,001,669 (GRCm39)	missense	probably damaging	0.97
R4688:Pla2g4e	UTSW	2	119,998,414 (GRCm39)	missense	possibly damaging	0.82
R4691:Pla2g4e	UTSW	2	120,004,781 (GRCm39)	missense	probably damaging	1.00
R4944:Pla2g4e	UTSW	2	120,001,718 (GRCm39)	missense	probably benign	0.01
R5051:Pla2g4e	UTSW	2	120,004,785 (GRCm39)	missense	probably damaging	1.00
R5285:Pla2g4e	UTSW	2	120,019,985 (GRCm39)	missense	probably damaging	1.00
R5373:Pla2g4e	UTSW	2	120,016,876 (GRCm39)	missense	probably benign	0.30
R5374:Pla2g4e	UTSW	2	120,016,876 (GRCm39)	missense	probably benign	0.30
R5505:Pla2g4e	UTSW	2	120,075,256 (GRCm39)	missense	probably benign	0.08
R5702:Pla2g4e	UTSW	2	120,018,992 (GRCm39)	missense	possibly damaging	0.61
R6300:Pla2g4e	UTSW	2	120,013,219 (GRCm39)	missense	probably benign	0.00
R6711:Pla2g4e	UTSW	2	120,001,751 (GRCm39)	missense	probably benign	0.00
R6920:Pla2g4e	UTSW	2	120,015,795 (GRCm39)	missense	possibly damaging	0.82
R6961:Pla2g4e	UTSW	2	120,004,851 (GRCm39)	splice site	probably null
R6987:Pla2g4e	UTSW	2	120,016,861 (GRCm39)	missense	probably benign	0.01
R7028:Pla2g4e	UTSW	2	120,000,676 (GRCm39)	missense	probably damaging	1.00
R7138:Pla2g4e	UTSW	2	120,001,759 (GRCm39)	missense	probably damaging	1.00
R7300:Pla2g4e	UTSW	2	120,021,680 (GRCm39)	missense	probably damaging	1.00
R7355:Pla2g4e	UTSW	2	120,011,982 (GRCm39)	missense	possibly damaging	0.91
R7502:Pla2g4e	UTSW	2	120,004,819 (GRCm39)	splice site	probably null
R7849:Pla2g4e	UTSW	2	120,015,803 (GRCm39)	missense	probably benign	0.32
R8288:Pla2g4e	UTSW	2	120,018,990 (GRCm39)	critical splice donor site	probably null
R8686:Pla2g4e	UTSW	2	120,075,172 (GRCm39)	missense	probably damaging	0.98
R9003:Pla2g4e	UTSW	2	120,007,282 (GRCm39)	missense	probably benign	0.03
R9023:Pla2g4e	UTSW	2	120,001,718 (GRCm39)	missense	probably benign	0.01
R9261:Pla2g4e	UTSW	2	120,019,910 (GRCm39)	missense	probably benign	0.04
R9284:Pla2g4e	UTSW	2	120,004,730 (GRCm39)	splice site	probably benign
R9299:Pla2g4e	UTSW	2	120,002,204 (GRCm39)	missense	probably damaging	1.00
R9338:Pla2g4e	UTSW	2	120,019,914 (GRCm39)	missense	probably benign	0.07
R9555:Pla2g4e	UTSW	2	120,075,400 (GRCm39)	start gained	probably benign
R9604:Pla2g4e	UTSW	2	120,015,680 (GRCm39)	missense	probably benign	0.02
RF044:Pla2g4e	UTSW	2	120,075,205 (GRCm39)	small deletion	probably benign
Z1177:Pla2g4e	UTSW	2	120,012,004 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCATGTCCTGAGAAGTGGCTCTG -3'
(R):5'- AAGGCAAGGCTGACAATCTCCCTG -3'

Sequencing Primer
(F):5'- CTGGTTCCGTGACATAAAAGGC -3'
(R):5'- GACAGTGAGGATCATTGGCA -3'

Posted On

2014-08-18