Mutagenetix > Incidental Mutation

Incidental Mutation 'R7028:Pla2g4e'

546103

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4e

Ensembl Gene

ENSMUSG00000050211

Gene Name

phospholipase A2, group IVE

Synonyms

Pla2epsilon, 2310026J01Rik

MMRRC Submission

045129-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7028 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119996893-120075816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120000676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 687 (D687A)

Ref Sequence

ENSEMBL: ENSMUSP00000087525 (fasta)

Gene Model

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

AlphaFold

Q50L42

Predicted Effect

probably damaging
Transcript: ENSMUST00000090071
AA Change: D687A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: D687A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,096,019 (GRCm39)	I804T	probably benign	Het
Abcb1b	A	T	5: 8,855,441 (GRCm39)	E25V	probably damaging	Het
Adamts9	G	T	6: 92,886,774 (GRCm39)	Y355*	probably null	Het
Akp3	A	G	1: 87,054,500 (GRCm39)	M303V	probably benign	Het
Ankrd35	A	T	3: 96,590,650 (GRCm39)	E312V	possibly damaging	Het
Arhgap40	T	C	2: 158,373,294 (GRCm39)		probably null	Het
Asxl1	T	C	2: 153,242,027 (GRCm39)	L859P	probably benign	Het
Atat1	A	G	17: 36,220,897 (GRCm39)	F11L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc7a	A	T	8: 129,608,075 (GRCm39)	H943Q	unknown	Het
Cep135	A	G	5: 76,764,695 (GRCm39)	T558A	probably benign	Het
Cfap99	A	G	5: 34,458,863 (GRCm39)	E86G	possibly damaging	Het
Cfhr2	C	T	1: 139,758,801 (GRCm39)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col17a1	G	A	19: 47,640,622 (GRCm39)	P992L	probably damaging	Het
Col7a1	C	T	9: 108,792,331 (GRCm39)	Q1294*	probably null	Het
Coq8b	T	A	7: 26,939,293 (GRCm39)	C148S	probably damaging	Het
Csmd2	A	G	4: 128,171,021 (GRCm39)	N338S		Het
Cspg5	T	A	9: 110,075,959 (GRCm39)	S232T	possibly damaging	Het
Cyp2c67	A	G	19: 39,628,341 (GRCm39)	V201A	possibly damaging	Het
Dlgap3	G	A	4: 127,089,310 (GRCm39)	R302H	possibly damaging	Het
Dpy19l2	T	C	9: 24,539,547 (GRCm39)	I469V	probably benign	Het
Fam135b	T	C	15: 71,343,412 (GRCm39)	D401G	probably damaging	Het
Gabbr1	G	T	17: 37,375,629 (GRCm39)	G453*	probably null	Het
Gclc	C	A	9: 77,695,498 (GRCm39)	A440D	probably damaging	Het
Glyat	T	C	19: 12,627,723 (GRCm39)	I106T	probably benign	Het
Gm12185	T	C	11: 48,799,071 (GRCm39)	N474S	possibly damaging	Het
Gm17079	T	C	14: 51,930,494 (GRCm39)	H117R		Het
Ift70a2	A	T	2: 75,806,613 (GRCm39)	L633*	probably null	Het
Ildr2	A	G	1: 166,131,098 (GRCm39)	D318G	probably damaging	Het
Kcnd2	G	A	6: 21,216,177 (GRCm39)		probably benign	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Kif3a	G	T	11: 53,477,733 (GRCm39)	G401*	probably null	Het
Lactbl1	T	A	4: 136,360,286 (GRCm39)	L155Q	probably damaging	Het
Lrp1b	T	A	2: 41,136,023 (GRCm39)	D1649V	probably benign	Het
Lrrc37	C	T	11: 103,505,363 (GRCm39)	A26T	probably benign	Het
Map2k1	A	G	9: 64,101,105 (GRCm39)	V191A	probably benign	Het
Mdm4	A	T	1: 132,931,547 (GRCm39)	C165S	probably benign	Het
Med27	G	A	2: 29,399,446 (GRCm39)	W92*	probably null	Het
Muc20	A	T	16: 32,614,616 (GRCm39)	S254T	probably benign	Het
Myh1	A	G	11: 67,111,247 (GRCm39)	E1562G	possibly damaging	Het
Nlrp2	C	G	7: 5,331,571 (GRCm39)	R275P	possibly damaging	Het
Notch2	T	A	3: 98,009,703 (GRCm39)	N543K	probably damaging	Het
Nup214	T	A	2: 31,924,168 (GRCm39)	S1566T	probably benign	Het
Nxnl1	T	G	8: 72,015,437 (GRCm39)	E157A	possibly damaging	Het
Obscn	A	G	11: 58,969,959 (GRCm39)	L61P	probably damaging	Het
Ogg1	A	T	6: 113,306,237 (GRCm39)	I145F	probably damaging	Het
Or10d5j	T	C	9: 39,867,641 (GRCm39)	T197A	probably benign	Het
Or2b2	A	G	13: 21,887,440 (GRCm39)	K90E	possibly damaging	Het
Or2f1	G	A	6: 42,721,337 (GRCm39)	R122H	probably benign	Het
Or51h5	T	C	7: 102,577,149 (GRCm39)	F105L	probably damaging	Het
Pclo	A	G	5: 14,763,461 (GRCm39)	D3978G	unknown	Het
Pla2r1	T	C	2: 60,288,737 (GRCm39)	K632E	probably damaging	Het
Plg	A	T	17: 12,610,723 (GRCm39)	Q212L	probably damaging	Het
Poldip3	A	T	15: 83,015,698 (GRCm39)	N306K	probably damaging	Het
Pspn	A	G	17: 57,306,978 (GRCm39)	L13P	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,844 (GRCm39)	E484G	probably damaging	Het
Rbmxl1	G	T	8: 79,233,286 (GRCm39)	T19K	probably damaging	Het
Rora	G	A	9: 69,103,365 (GRCm39)	V31I	possibly damaging	Het
Skint5	C	A	4: 113,798,036 (GRCm39)	W182C	probably damaging	Het
Spata31d1c	A	T	13: 65,183,877 (GRCm39)	Q473L	probably damaging	Het
Tesk2	G	A	4: 116,659,884 (GRCm39)	W334*	probably null	Het
Tmem67	C	A	4: 12,075,484 (GRCm39)	V277L	probably benign	Het
Trhde	A	G	10: 114,354,082 (GRCm39)	M537T	probably damaging	Het
Tubb6	G	A	18: 67,534,981 (GRCm39)	M293I	probably benign	Het
Ube2ql1	A	T	13: 69,886,873 (GRCm39)	L196Q	probably damaging	Het
Ubn1	A	T	16: 4,873,188 (GRCm39)	N70I	probably damaging	Het
Ubtf	A	T	11: 102,205,806 (GRCm39)	S40T	probably benign	Het
Virma	C	T	4: 11,519,249 (GRCm39)	A782V	possibly damaging	Het
Xdh	G	T	17: 74,250,868 (GRCm39)	T28K	probably damaging	Het
Xpo4	A	G	14: 57,834,508 (GRCm39)	S691P	probably benign	Het
Zfat	A	C	15: 68,052,301 (GRCm39)	F491V	probably damaging	Het
Zfp623	T	G	15: 75,820,154 (GRCm39)	V370G	probably damaging	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
R0675:Pla2g4e	UTSW	2	120,030,679 (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
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'- AGGTGATGGTGCTGTAACCG -3'
(R):5'- CTACACAGAAAAGTAGGACTCAGTG -3'

Sequencing Primer
(F):5'- AAGCCGGGGATGTCTCTGTAATAC -3'
(R):5'- ACTCAGTGCCCTAGGGAGTATG -3'

Posted On

2019-05-13