Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Epn2'

576838

Institutional Source

Beutler Lab

Gene Symbol

Epn2

Ensembl Gene

ENSMUSG00000001036

Gene Name

epsin 2

Synonyms

Ibp2, 9530051D10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61517249-61579687 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 61546848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136950 (fasta)

Gene Model

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

AlphaFold

Q8CHU3

Predicted Effect

probably benign
Transcript: ENSMUST00000001063

SMART Domains

Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036

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 benign
Transcript: ENSMUST00000108711

SMART Domains

Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036

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

SMART Domains

Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036

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

probably benign
Transcript: ENSMUST00000108713

SMART Domains

Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036

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

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178202

SMART Domains

Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036

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 benign
Transcript: ENSMUST00000179936

SMART Domains

Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	Het

Other mutations in Epn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Epn2	APN	11	61523086	missense	probably benign	0.00
IGL01582:Epn2	APN	11	61521869	missense	probably benign	0.00
IGL02375:Epn2	APN	11	61519671	missense	probably damaging	1.00
IGL03213:Epn2	APN	11	61519684	missense	probably damaging	0.99
Ipanema	UTSW	11	61519558	missense	probably benign	0.00
R0400:Epn2	UTSW	11	61532696	splice site	probably null
R0458:Epn2	UTSW	11	61546455	missense	possibly damaging	0.89
R0471:Epn2	UTSW	11	61535308	missense	probably damaging	1.00
R0833:Epn2	UTSW	11	61519491	missense	probably benign	0.01
R0836:Epn2	UTSW	11	61519491	missense	probably benign	0.01
R1418:Epn2	UTSW	11	61523086	missense	probably benign	0.00
R1699:Epn2	UTSW	11	61523188	nonsense	probably null
R1743:Epn2	UTSW	11	61546411	missense	possibly damaging	0.92
R4039:Epn2	UTSW	11	61546522	missense	probably damaging	1.00
R4696:Epn2	UTSW	11	61535303	missense	probably damaging	1.00
R4752:Epn2	UTSW	11	61546371	missense	probably damaging	1.00
R4913:Epn2	UTSW	11	61534576	critical splice donor site	probably null
R6053:Epn2	UTSW	11	61546497	missense	probably damaging	1.00
R6302:Epn2	UTSW	11	61546486	missense	probably damaging	1.00
R6455:Epn2	UTSW	11	61533641	missense	probably damaging	1.00
R6669:Epn2	UTSW	11	61519558	missense	probably benign	0.00
R7032:Epn2	UTSW	11	61546702	missense	probably damaging	1.00
R8008:Epn2	UTSW	11	61546666	missense	probably damaging	1.00
R8128:Epn2	UTSW	11	61522495	splice site	probably null
R9114:Epn2	UTSW	11	61546620	missense	probably damaging	1.00
R9546:Epn2	UTSW	11	61546581	missense	probably damaging	1.00
R9548:Epn2	UTSW	11	61546162	missense	probably benign	0.31
Z1177:Epn2	UTSW	11	61546424	missense	probably damaging	1.00
Z1186:Epn2	UTSW	11	61579634	start gained	probably benign
Z1187:Epn2	UTSW	11	61579634	start gained	probably benign
Z1188:Epn2	UTSW	11	61579634	start gained	probably benign
Z1189:Epn2	UTSW	11	61579634	start gained	probably benign
Z1190:Epn2	UTSW	11	61579634	start gained	probably benign
Z1191:Epn2	UTSW	11	61579634	start gained	probably benign
Z1192:Epn2	UTSW	11	61579634	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCATCAGAGAGCTGGATGG -3'
(R):5'- GTGGCATTTCTGACCTGATCTTAG -3'

Sequencing Primer
(F):5'- CCACGGGTCATTGGAGGTG -3'
(R):5'- GACCTGATCTTAGTTTTGAAAGCAGG -3'

Posted On

2019-10-07