Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Epn2'

41324

Institutional Source

Beutler Lab

Gene Symbol

Epn2

Ensembl Gene

ENSMUSG00000001036

Gene Name

epsin 2

Synonyms

Ibp2, 9530051D10Rik

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0458 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

61408075-61470513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61437281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 97 (R97L)

Ref Sequence

ENSEMBL: ENSMUSP00000136553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001063] [ENSMUST00000108711] [ENSMUST00000108712] [ENSMUST00000108713] [ENSMUST00000146455] [ENSMUST00000147501] [ENSMUST00000179936] [ENSMUST00000178202]

AlphaFold

Q8CHU3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001063
AA Change: R97L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
AA Change: R97L

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

possibly damaging
Transcript: ENSMUST00000108711
AA Change: R97L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
AA Change: R97L

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

possibly damaging
Transcript: ENSMUST00000108712
AA Change: R97L

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
AA Change: R97L

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: R97L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
AA Change: R97L

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

noncoding transcript
Transcript: ENSMUST00000141335

Predicted Effect

probably benign
Transcript: ENSMUST00000146455

Predicted Effect

probably benign
Transcript: ENSMUST00000147501

SMART Domains

Protein: ENSMUSP00000117389
Gene: ENSMUSG00000001036

Domain	Start	End	E-Value	Type
Pfam:ENTH	17	80	2.1e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179936
AA Change: R97L

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
AA Change: R97L

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

possibly damaging
Transcript: ENSMUST00000178202
AA Change: R97L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
AA Change: R97L

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

noncoding transcript
Transcript: ENSMUST00000151545

Predicted Effect

probably benign
Transcript: ENSMUST00000148956

SMART Domains

Protein: ENSMUSP00000122514
Gene: ENSMUSG00000001036

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

probably benign
Transcript: ENSMUST00000153984

SMART Domains

Protein: ENSMUSP00000122666
Gene: ENSMUSG00000001036

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

Meta Mutation Damage Score

0.7296

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,856,747 (GRCm39)	E8G	unknown	Het
9130008F23Rik	T	C	17: 41,191,127 (GRCm39)	T101A	probably benign	Het
Abcb8	C	T	5: 24,611,231 (GRCm39)	T455I	probably benign	Het
Abcb9	C	A	5: 124,220,209 (GRCm39)		probably null	Het
Akp3	T	G	1: 87,054,259 (GRCm39)	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,729,390 (GRCm39)	D109V	probably damaging	Het
Aurka	C	A	2: 172,212,366 (GRCm39)	E4*	probably null	Het
Cacna1g	T	A	11: 94,300,266 (GRCm39)	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,600,722 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,850,837 (GRCm39)	V325A	probably benign	Het
Clasp2	T	A	9: 113,735,292 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,620,655 (GRCm39)	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,001,610 (GRCm39)	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,147,633 (GRCm39)	V399A	possibly damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,502,513 (GRCm39)	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,197,104 (GRCm39)		probably benign	Het
Fam243	T	C	16: 92,117,995 (GRCm39)	I98V	probably benign	Het
Fzd6	G	A	15: 38,894,676 (GRCm39)	A281T	probably damaging	Het
Garem2	T	A	5: 30,319,180 (GRCm39)	I214N	probably damaging	Het
Glg1	A	G	8: 111,887,238 (GRCm39)		probably benign	Het
Golm1	T	C	13: 59,812,178 (GRCm39)	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,216,233 (GRCm39)	R12L	probably benign	Het
Gstm1	T	A	3: 107,924,679 (GRCm39)	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,383,663 (GRCm39)	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icam1	A	G	9: 20,939,157 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,510,096 (GRCm39)		probably null	Het
Kif15	T	C	9: 122,838,424 (GRCm39)	F1121L	probably benign	Het
Klhl30	T	A	1: 91,288,718 (GRCm39)		probably benign	Het
Ldlrad1	T	C	4: 107,073,387 (GRCm39)	C141R	probably damaging	Het
Lemd2	T	C	17: 27,409,627 (GRCm39)	D508G	probably damaging	Het
Lilra5	A	C	7: 4,241,218 (GRCm39)	T52P	probably benign	Het
Lrtm2	G	A	6: 119,294,229 (GRCm39)	P301S	probably damaging	Het
Mcoln2	A	G	3: 145,855,768 (GRCm39)		probably benign	Het
Mkrn2os	A	G	6: 115,563,631 (GRCm39)	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,162,224 (GRCm39)	V607A	probably benign	Het
Mmadhc	T	C	2: 50,171,173 (GRCm39)	Y213C	probably benign	Het
Mpo	C	A	11: 87,687,123 (GRCm39)	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,168,036 (GRCm39)	I310M	probably damaging	Het
Muc5b	C	A	7: 141,418,709 (GRCm39)	A3885D	probably benign	Het
Mvp	A	G	7: 126,597,663 (GRCm39)	W152R	probably damaging	Het
Nmur2	A	T	11: 55,931,394 (GRCm39)	F106I	possibly damaging	Het
Nr3c2	T	A	8: 77,636,167 (GRCm39)	F423I	probably damaging	Het
Or1l8	A	G	2: 36,817,349 (GRCm39)	V259A	probably damaging	Het
Or5m5	A	G	2: 85,814,600 (GRCm39)	S139G	probably benign	Het
Or8c16	G	A	9: 38,130,344 (GRCm39)	C75Y	probably damaging	Het
Or9q1	G	T	19: 13,805,593 (GRCm39)	H56N	probably benign	Het
Pappa	A	G	4: 65,074,119 (GRCm39)	I224M	probably damaging	Het
Prex1	A	C	2: 166,427,743 (GRCm39)	S800A	probably damaging	Het
Prkaca	T	C	8: 84,721,911 (GRCm39)		probably benign	Het
Ptpru	A	T	4: 131,526,986 (GRCm39)	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,777,824 (GRCm39)		probably null	Het
Rbms2	C	T	10: 127,987,058 (GRCm39)	C50Y	probably damaging	Het
Rd3	C	T	1: 191,709,414 (GRCm39)	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,256 (GRCm39)	I247L	probably benign	Het
Sf3b3	A	G	8: 111,538,768 (GRCm39)		probably benign	Het
Slc35c1	A	T	2: 92,284,858 (GRCm39)	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,193,813 (GRCm39)		probably null	Het
Snx6	G	T	12: 54,814,921 (GRCm39)	Y17*	probably null	Het
Sox6	C	A	7: 115,089,029 (GRCm39)	R611L	probably damaging	Het
Spata13	G	A	14: 60,929,492 (GRCm39)	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,746,879 (GRCm39)	A483D	probably damaging	Het
Stat1	C	T	1: 52,188,211 (GRCm39)		probably benign	Het
Tab2	A	T	10: 7,795,319 (GRCm39)	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 155,906,153 (GRCm39)	N213S	probably damaging	Het
Trim39	T	C	17: 36,572,404 (GRCm39)	K300E	probably damaging	Het
Tubal3	T	C	13: 3,983,137 (GRCm39)	S306P	probably damaging	Het
Ufm1	A	G	3: 53,768,655 (GRCm39)	L33P	probably damaging	Het
Washc4	G	A	10: 83,382,663 (GRCm39)	V26I	possibly damaging	Het
Wfs1	A	G	5: 37,126,013 (GRCm39)	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,351,214 (GRCm39)	V109A	probably damaging	Het
Zfp667	T	C	7: 6,307,844 (GRCm39)	S171P	probably benign	Het
Zkscan5	T	A	5: 145,142,281 (GRCm39)	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,768,965 (GRCm39)	R1128W	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
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
R6455:Epn2	UTSW	11	61,424,467 (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'- TGCCACTCAGCTTTCGCATAAAGG -3'
(R):5'- GATGACTGAGATTGCTGACCTGACC -3'

Sequencing Primer
(F):5'- CTGCTCTGAGTAGCTGGTAGAAAG -3'
(R):5'- GATTGCTGACCTGACCTACAATG -3'

Posted On

2013-05-23