Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Epn2'

519563

Institutional Source

Beutler Lab

Gene Symbol

Epn2

Ensembl Gene

ENSMUSG00000001036

Gene Name

epsin 2

Synonyms

Ibp2, 9530051D10Rik

MMRRC Submission

044591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61408075-61470513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61424467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 250 (M250K)

Ref Sequence

ENSEMBL: ENSMUSP00000104351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001063] [ENSMUST00000108711] [ENSMUST00000108712] [ENSMUST00000108713] [ENSMUST00000179936] [ENSMUST00000178202]

AlphaFold

Q8CHU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000001063
AA Change: M262K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
AA Change: M262K

Domain	Start	End	E-Value	Type
ENTH	18	144	1.03e-65	SMART
UIM	218	237	3.37e-1	SMART
UIM	255	274	2.48e1	SMART
low complexity region	449	461	N/A	INTRINSIC
low complexity region	493	517	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108711
AA Change: M250K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
AA Change: M250K

Domain	Start	End	E-Value	Type
ENTH	18	144	1.03e-65	SMART
UIM	218	237	6.29e-1	SMART
UIM	243	262	2.48e1	SMART
low complexity region	431	443	N/A	INTRINSIC
low complexity region	475	499	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108712
AA Change: M307K

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
AA Change: M307K

Domain	Start	End	E-Value	Type
ENTH	18	144	1.03e-65	SMART
UIM	275	294	6.29e-1	SMART
UIM	300	319	2.48e1	SMART
low complexity region	488	500	N/A	INTRINSIC
low complexity region	532	556	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108713
AA Change: M250K

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
AA Change: M250K

Domain	Start	End	E-Value	Type
ENTH	18	144	1.03e-65	SMART
UIM	218	237	6.29e-1	SMART
UIM	243	262	2.48e1	SMART
low complexity region	437	449	N/A	INTRINSIC
low complexity region	481	505	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000148956
AA Change: M183K

SMART Domains

Protein: ENSMUSP00000122514
Gene: ENSMUSG00000001036
AA Change: M183K

Domain	Start	End	E-Value	Type
SCOP:d1eyha_	2	35	1e-9	SMART
PDB:1EDU\|A	2	37	5e-8	PDB
UIM	152	171	6.29e-1	SMART
UIM	177	196	2.48e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151545

Predicted Effect

unknown
Transcript: ENSMUST00000153984
AA Change: M115K

SMART Domains

Protein: ENSMUSP00000122666
Gene: ENSMUSG00000001036
AA Change: M115K

Domain	Start	End	E-Value	Type
UIM	72	91	3.37e-1	SMART
UIM	109	128	2.48e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179936
AA Change: M307K

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
AA Change: M307K

Domain	Start	End	E-Value	Type
ENTH	18	144	1.03e-65	SMART
UIM	275	294	6.29e-1	SMART
UIM	300	319	2.48e1	SMART
low complexity region	494	506	N/A	INTRINSIC
low complexity region	538	562	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178202
AA Change: M262K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
AA Change: M262K

Domain	Start	End	E-Value	Type
ENTH	18	144	1.03e-65	SMART
UIM	218	237	3.37e-1	SMART
UIM	255	274	2.48e1	SMART
low complexity region	449	461	N/A	INTRINSIC
low complexity region	493	517	N/A	INTRINSIC

Meta Mutation Damage Score

0.1610

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. Mice homozygous null for both Epn1 and Epn2 display defects in angiogenic vascular remodeling, impaired somitogenesis and extensive cell death in the nervous tissue, resulting in lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,042,376 (GRCm39)	R1899G	probably damaging	Het
Abca6	C	T	11: 110,132,407 (GRCm39)	G296D	probably damaging	Het
Abcb5	A	T	12: 118,854,284 (GRCm39)		probably null	Het
Adam28	T	G	14: 68,870,657 (GRCm39)	T339P	probably damaging	Het
Adam34l	T	A	8: 44,079,189 (GRCm39)	H345L	probably damaging	Het
Adcy10	C	G	1: 165,345,943 (GRCm39)	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,160,196 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,673,639 (GRCm39)	I3078N	probably damaging	Het
Amtn	A	T	5: 88,528,139 (GRCm39)	N71Y	probably damaging	Het
Arhgef18	A	T	8: 3,438,753 (GRCm39)	Y370F	probably benign	Het
Arid4a	T	C	12: 71,121,862 (GRCm39)	S748P	probably benign	Het
Atp2b1	C	A	10: 98,852,842 (GRCm39)	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,830 (GRCm39)	D123G	probably benign	Het
Capn15	A	G	17: 26,184,410 (GRCm39)	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,896,754 (GRCm39)	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 129,559,091 (GRCm39)	V1174M	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Ceacam3	T	C	7: 16,895,863 (GRCm39)	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,397,180 (GRCm39)	D370N	possibly damaging	Het
Dlg2	C	A	7: 92,093,716 (GRCm39)		probably null	Het
Dll4	A	T	2: 119,164,276 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,058,108 (GRCm39)	S137P	probably benign	Het
Fat2	T	A	11: 55,161,283 (GRCm39)	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,761,812 (GRCm39)	S341F	probably benign	Het
Gm5141	A	T	13: 62,922,597 (GRCm39)	C191S	probably damaging	Het
Gm5150	C	T	3: 16,044,815 (GRCm39)	G137S	probably damaging	Het
Gpr75	C	T	11: 30,841,529 (GRCm39)	R145W	probably damaging	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Ina	G	A	19: 47,012,000 (GRCm39)	E473K	probably benign	Het
Irx6	T	C	8: 93,402,700 (GRCm39)	S22P	probably benign	Het
Itpr1	T	A	6: 108,394,933 (GRCm39)	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,061,795 (GRCm39)	S1383T	probably benign	Het
Lclat1	T	A	17: 73,468,828 (GRCm39)	S3T	probably damaging	Het
Llgl1	G	A	11: 60,600,486 (GRCm39)	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239 (GRCm39)	R708G	probably benign	Het
Mphosph8	T	C	14: 56,925,943 (GRCm39)	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,113,893 (GRCm39)	N254Y	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Myog	G	A	1: 134,218,226 (GRCm39)	D145N	probably benign	Het
Nat10	T	A	2: 103,570,231 (GRCm39)	I371F	possibly damaging	Het
Neb	A	T	2: 52,057,656 (GRCm39)	Y229*	probably null	Het
Nlrp6	T	A	7: 140,507,422 (GRCm39)	I896K	possibly damaging	Het
Or11g7	A	T	14: 50,691,042 (GRCm39)	I178L	possibly damaging	Het
Or52p2	G	A	7: 102,237,878 (GRCm39)	A24V	probably benign	Het
Or5an11	T	C	19: 12,246,070 (GRCm39)	S159P	probably damaging	Het
Pate5	T	A	9: 35,755,351 (GRCm39)	K3*	probably null	Het
Pcdhgc5	A	C	18: 37,954,301 (GRCm39)	E525A	probably damaging	Het
Pira1	T	A	7: 3,741,930 (GRCm39)	Y150F	probably benign	Het
Pkd2	C	A	5: 104,607,790 (GRCm39)	D96E	probably benign	Het
Prtg	A	G	9: 72,815,138 (GRCm39)	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,689,150 (GRCm39)	M981T	probably benign	Het
Rc3h2	C	A	2: 37,299,482 (GRCm39)	A183S	probably damaging	Het
Rorb	A	T	19: 18,937,856 (GRCm39)	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,378,646 (GRCm39)	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,386,031 (GRCm39)	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,958,107 (GRCm39)	I109F	probably damaging	Het
Spen	G	A	4: 141,202,820 (GRCm39)	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,789,514 (GRCm39)	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629 (GRCm39)	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,688,626 (GRCm39)	W89*	probably null	Het
Tbxas1	T	A	6: 38,929,079 (GRCm39)		probably benign	Het
Tia1	T	A	6: 86,397,360 (GRCm39)	I111N	probably damaging	Het
Tlr9	T	A	9: 106,101,198 (GRCm39)	L163H	probably damaging	Het
Tnn	C	T	1: 159,942,289 (GRCm39)	V806M	probably damaging	Het
Traf5	G	A	1: 191,731,887 (GRCm39)	A318V	probably benign	Het
Ttc3	T	A	16: 94,219,482 (GRCm39)	M1K	probably null	Het
Utp25	G	T	1: 192,810,684 (GRCm39)	D106E	probably benign	Het
Vmn1r192	T	A	13: 22,372,000 (GRCm39)	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,482,331 (GRCm39)	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,686,582 (GRCm39)	N372Y	probably damaging	Het
Wbp2	A	T	11: 115,970,579 (GRCm39)	S229R	probably damaging	Het
Wdr18	C	T	10: 79,801,115 (GRCm39)	T176I	probably damaging	Het

Other mutations in Epn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Epn2	APN	11	61,413,912 (GRCm39)	missense	probably benign	0.00
IGL01582:Epn2	APN	11	61,412,695 (GRCm39)	missense	probably benign	0.00
IGL02375:Epn2	APN	11	61,410,497 (GRCm39)	missense	probably damaging	1.00
IGL03213:Epn2	APN	11	61,410,510 (GRCm39)	missense	probably damaging	0.99
Ipanema	UTSW	11	61,410,384 (GRCm39)	missense	probably benign	0.00
R0400:Epn2	UTSW	11	61,423,522 (GRCm39)	splice site	probably null
R0458:Epn2	UTSW	11	61,437,281 (GRCm39)	missense	possibly damaging	0.89
R0471:Epn2	UTSW	11	61,426,134 (GRCm39)	missense	probably damaging	1.00
R0833:Epn2	UTSW	11	61,410,317 (GRCm39)	missense	probably benign	0.01
R0836:Epn2	UTSW	11	61,410,317 (GRCm39)	missense	probably benign	0.01
R1418:Epn2	UTSW	11	61,413,912 (GRCm39)	missense	probably benign	0.00
R1699:Epn2	UTSW	11	61,414,014 (GRCm39)	nonsense	probably null
R1743:Epn2	UTSW	11	61,437,237 (GRCm39)	missense	possibly damaging	0.92
R4039:Epn2	UTSW	11	61,437,348 (GRCm39)	missense	probably damaging	1.00
R4696:Epn2	UTSW	11	61,426,129 (GRCm39)	missense	probably damaging	1.00
R4752:Epn2	UTSW	11	61,437,197 (GRCm39)	missense	probably damaging	1.00
R4913:Epn2	UTSW	11	61,425,402 (GRCm39)	critical splice donor site	probably null
R6053:Epn2	UTSW	11	61,437,323 (GRCm39)	missense	probably damaging	1.00
R6302:Epn2	UTSW	11	61,437,312 (GRCm39)	missense	probably damaging	1.00
R6669:Epn2	UTSW	11	61,410,384 (GRCm39)	missense	probably benign	0.00
R7032:Epn2	UTSW	11	61,437,528 (GRCm39)	missense	probably damaging	1.00
R7439:Epn2	UTSW	11	61,437,674 (GRCm39)	start gained	probably benign
R8008:Epn2	UTSW	11	61,437,492 (GRCm39)	missense	probably damaging	1.00
R8128:Epn2	UTSW	11	61,413,321 (GRCm39)	splice site	probably null
R9114:Epn2	UTSW	11	61,437,446 (GRCm39)	missense	probably damaging	1.00
R9546:Epn2	UTSW	11	61,437,407 (GRCm39)	missense	probably damaging	1.00
R9548:Epn2	UTSW	11	61,436,988 (GRCm39)	missense	probably benign	0.31
Z1177:Epn2	UTSW	11	61,437,250 (GRCm39)	missense	probably damaging	1.00
Z1186:Epn2	UTSW	11	61,470,460 (GRCm39)	start gained	probably benign
Z1187:Epn2	UTSW	11	61,470,460 (GRCm39)	start gained	probably benign
Z1188:Epn2	UTSW	11	61,470,460 (GRCm39)	start gained	probably benign
Z1189:Epn2	UTSW	11	61,470,460 (GRCm39)	start gained	probably benign
Z1190:Epn2	UTSW	11	61,470,460 (GRCm39)	start gained	probably benign
Z1191:Epn2	UTSW	11	61,470,460 (GRCm39)	start gained	probably benign
Z1192:Epn2	UTSW	11	61,470,460 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGGTGTTCACCACAAAATG -3'
(R):5'- CATGAGTCCTCTGGGAATGG -3'

Sequencing Primer
(F):5'- CCACAAAATGGGTTCAATGTGG -3'
(R):5'- AAAGCCATTGTTTCCAGCGG -3'

Posted On

2018-05-24