Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Pla2g4e'

345599

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4e

Ensembl Gene

ENSMUSG00000050211

Gene Name

phospholipase A2, group IVE

Synonyms

Pla2epsilon, 2310026J01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119996893-120075816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120016863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 226 (H226P)

Ref Sequence

ENSEMBL: ENSMUSP00000087525 (fasta)

Gene Model

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

AlphaFold

Q50L42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090071
AA Change: H226P

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087525
Gene: ENSMUSG00000050211
AA Change: H226P

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

Meta Mutation Damage Score

0.0985

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Abca16	T	G	7: 120,035,920 (GRCm39)	F334L	probably damaging	Het
Abcc4	T	A	14: 118,869,575 (GRCm39)	M186L	probably benign	Het
Agap3	T	C	5: 24,681,406 (GRCm39)	L120P	probably damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,693,343 (GRCm39)	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,520,102 (GRCm39)	D59G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cacna1e	A	G	1: 154,347,359 (GRCm39)	V936A	probably benign	Het
Camkv	T	C	9: 107,823,295 (GRCm39)	V107A	probably damaging	Het
Camp	T	C	9: 109,677,730 (GRCm39)	E80G	probably damaging	Het
Cblif	A	C	19: 11,729,554 (GRCm39)	D171A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd101	G	A	3: 100,901,204 (GRCm39)	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,044,657 (GRCm39)	V323A	possibly damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cemip	T	C	7: 83,600,826 (GRCm39)	I932V	probably damaging	Het
Cep250	C	A	2: 155,803,973 (GRCm39)	Q28K	probably benign	Het
Ces2f	T	C	8: 105,676,596 (GRCm39)	C97R	probably damaging	Het
Cfap126	G	T	1: 170,941,627 (GRCm39)	G41C	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Chat	T	C	14: 32,146,112 (GRCm39)	M354V	probably benign	Het
Clca4b	A	T	3: 144,632,945 (GRCm39)	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,235,496 (GRCm39)	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,439,009 (GRCm39)	W1126R	probably damaging	Het
Dgkb	T	C	12: 38,652,819 (GRCm39)	S735P	probably damaging	Het
Dlec1	T	C	9: 118,976,202 (GRCm39)		probably null	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dph5	A	G	3: 115,693,426 (GRCm39)	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erich3	A	T	3: 154,470,375 (GRCm39)	D136V	unknown	Het
Exoc2	T	C	13: 31,066,251 (GRCm39)	N475S	probably benign	Het
Fam217a	T	C	13: 35,095,285 (GRCm39)	D310G	probably damaging	Het
Fam53a	C	T	5: 33,758,007 (GRCm39)	S372N	probably benign	Het
Fbn2	C	G	18: 58,186,805 (GRCm39)	G1699R	probably damaging	Het
Fbxo46	T	C	7: 18,869,489 (GRCm39)	V36A	probably benign	Het
Fhip1a	T	C	3: 85,648,487 (GRCm39)	M26V	probably damaging	Het
G6pc1	A	G	11: 101,263,567 (GRCm39)	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810 (GRCm39)	F161L	probably damaging	Het
Gja1	T	C	10: 56,264,325 (GRCm39)	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178 (GRCm39)	V86A	probably benign	Het
Hmcn1	A	T	1: 150,614,396 (GRCm39)	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,480,460 (GRCm39)	S30T	possibly damaging	Het
Itgb4	A	G	11: 115,896,548 (GRCm39)	T1436A	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Klhdc4	T	C	8: 122,526,266 (GRCm39)	E291G	probably damaging	Het
Map4	T	A	9: 109,881,887 (GRCm39)	S250R	possibly damaging	Het
Mnt	T	A	11: 74,727,285 (GRCm39)	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl2	T	C	2: 156,881,844 (GRCm39)	K736R	probably benign	Het
Musk	A	T	4: 58,301,625 (GRCm39)	I128F	probably damaging	Het
Myh4	G	A	11: 67,141,136 (GRCm39)	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,043,670 (GRCm39)	F220I	probably damaging	Het
Npas3	A	G	12: 54,091,361 (GRCm39)	H305R	probably damaging	Het
Nrcam	A	T	12: 44,637,839 (GRCm39)	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,323,744 (GRCm39)	D189E	probably benign	Het
Nuf2	A	G	1: 169,333,683 (GRCm39)	L331P	probably damaging	Het
Nup214	C	T	2: 31,887,977 (GRCm39)	T646I	probably benign	Het
Or14j9	T	C	17: 37,875,076 (GRCm39)	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,699,174 (GRCm39)	E1096G	probably damaging	Het
Pgm2	T	A	5: 64,265,070 (GRCm39)	F364I	probably benign	Het
Pikfyve	A	G	1: 65,273,421 (GRCm39)	N612S	probably damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Prkd2	G	T	7: 16,577,573 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Sav1	A	T	12: 70,031,095 (GRCm39)	D142E	probably benign	Het
Scn3b	C	A	9: 40,199,719 (GRCm39)	P212T	probably damaging	Het
Sel1l	A	T	12: 91,799,827 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,251,310 (GRCm39)	K543E	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Snrpa	A	G	7: 26,894,958 (GRCm39)	M1T	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Stradb	G	A	1: 59,032,731 (GRCm39)	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,658,083 (GRCm39)	K10R	probably benign	Het
Susd4	A	G	1: 182,686,025 (GRCm39)	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,593,374 (GRCm39)	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,704,339 (GRCm39)	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tex55	A	G	16: 38,648,380 (GRCm39)	V243A	probably benign	Het
Traj37	T	C	14: 54,418,996 (GRCm39)		probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,565,373 (GRCm39)	L420Q	probably benign	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Wdr81	T	A	11: 75,336,484 (GRCm39)	Q516L	probably damaging	Het
Zfp516	A	G	18: 82,974,164 (GRCm39)	T121A	probably benign	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
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'- TCCATTTGGATCCCTGGAAGAAC -3'
(R):5'- GAATTGTCTACACCAAGCCCAG -3'

Sequencing Primer
(F):5'- GACGTCTGAAGACACGATTTTG -3'
(R):5'- TGAACTTAGAGTCCCAGC -3'

Posted On

2015-09-25