Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Epn2'

192542

Institutional Source

Beutler Lab

Gene Symbol

Epn2

Ensembl Gene

ENSMUSG00000001036

Gene Name

epsin 2

Synonyms

Ibp2, 9530051D10Rik

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61408075-61470513 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 61414014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 391 (K391*)

Ref Sequence

ENSEMBL: ENSMUSP00000136950 (fasta)

Gene Model

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

AlphaFold

Q8CHU3

Predicted Effect

probably null
Transcript: ENSMUST00000001063
AA Change: K346*

SMART Domains

Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
AA Change: K346*

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 null
Transcript: ENSMUST00000108711
AA Change: K328*

SMART Domains

Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
AA Change: K328*

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 null
Transcript: ENSMUST00000108712
AA Change: K385*

SMART Domains

Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
AA Change: K385*

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 null
Transcript: ENSMUST00000108713
AA Change: K334*

SMART Domains

Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
AA Change: K334*

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: ENSMUST00000138136

Predicted Effect

probably null
Transcript: ENSMUST00000148956
AA Change: K267*

SMART Domains

Protein: ENSMUSP00000122514
Gene: ENSMUSG00000001036
AA Change: K267*

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 null
Transcript: ENSMUST00000178202
AA Change: K346*

SMART Domains

Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
AA Change: K346*

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 null
Transcript: ENSMUST00000179936
AA Change: K391*

SMART Domains

Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
AA Change: K391*

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,337,363 (GRCm39)	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,454,205 (GRCm39)	F341I	probably benign	Het
Adam8	A	T	7: 139,563,224 (GRCm39)	N767K	possibly damaging	Het
Aig1	T	C	10: 13,744,366 (GRCm39)	D46G	possibly damaging	Het
Alms1	A	G	6: 85,599,862 (GRCm39)	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,789,204 (GRCm39)	I264V	probably benign	Het
Areg	T	G	5: 91,291,357 (GRCm39)	V100G	probably damaging	Het
Bcan	A	G	3: 87,896,543 (GRCm39)	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,539,200 (GRCm39)	I188N	probably damaging	Het
Cdt1	T	C	8: 123,296,722 (GRCm39)	Y203H	probably damaging	Het
Cfap119	A	T	7: 127,186,028 (GRCm39)		probably null	Het
Chil3	A	C	3: 106,067,682 (GRCm39)		probably null	Het
Ciao2b	A	G	8: 105,366,718 (GRCm39)	V132A	probably damaging	Het
Cimip2c	A	G	5: 30,641,210 (GRCm39)		probably null	Het
Cth	A	G	3: 157,613,073 (GRCm39)	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,712,666 (GRCm39)	F132L	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,154,603 (GRCm39)	S226P	probably damaging	Het
Egfr	A	T	11: 16,809,019 (GRCm39)	Q71L	probably benign	Het
Eml6	T	A	11: 29,696,282 (GRCm39)	K1940*	probably null	Het
Erich1	A	T	8: 14,140,259 (GRCm39)	S2T	possibly damaging	Het
Evi5	A	C	5: 107,966,786 (GRCm39)	L245R	probably damaging	Het
Evpl	T	C	11: 116,118,414 (GRCm39)	Y731C	probably damaging	Het
Exoc3l	G	A	8: 106,021,645 (GRCm39)	H128Y	probably benign	Het
Extl1	G	A	4: 134,091,894 (GRCm39)	Q320*	probably null	Het
Fam91a1	T	A	15: 58,304,797 (GRCm39)	S416T	probably benign	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fer1l4	A	G	2: 155,871,605 (GRCm39)	F1392L	probably benign	Het
Fstl4	T	C	11: 53,059,005 (GRCm39)	I488T	possibly damaging	Het
Gak	A	T	5: 108,752,243 (GRCm39)	Y338*	probably null	Het
Garin4	T	A	1: 190,896,018 (GRCm39)	E208D	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Glrb	G	A	3: 80,769,081 (GRCm39)	T180I	probably damaging	Het
Gm10118	C	T	10: 63,762,671 (GRCm39)		probably benign	Het
Gpr19	A	T	6: 134,847,192 (GRCm39)	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,811,716 (GRCm39)	N740K	probably damaging	Het
Gstk1	A	T	6: 42,223,535 (GRCm39)	T42S	probably benign	Het
Hoxd1	G	A	2: 74,594,626 (GRCm39)	A294T	probably benign	Het
Hspg2	T	A	4: 137,275,323 (GRCm39)		probably null	Het
Ift74	A	T	4: 94,573,940 (GRCm39)	N472I	probably benign	Het
Il1a	C	T	2: 129,144,813 (GRCm39)	D202N	probably damaging	Het
Islr	T	C	9: 58,064,778 (GRCm39)	D243G	probably damaging	Het
Kif21a	C	T	15: 90,843,946 (GRCm39)	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,876,852 (GRCm39)	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,075,974 (GRCm39)	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,297,416 (GRCm39)	*247Q	probably null	Het
Megf10	T	C	18: 57,410,802 (GRCm39)		probably null	Het
Mettl2	T	A	11: 105,030,544 (GRCm39)	H373Q	probably benign	Het
Mocos	A	G	18: 24,816,273 (GRCm39)	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,053,761 (GRCm39)	I115T	probably damaging	Het
Ndst1	T	C	18: 60,828,580 (GRCm39)	Y658C	probably damaging	Het
Nin	G	A	12: 70,077,712 (GRCm39)	A1031V	probably benign	Het
Nin	C	A	12: 70,092,337 (GRCm39)	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,797,713 (GRCm39)	R344*	probably null	Het
Notch2	T	C	3: 98,052,443 (GRCm39)	S1980P	probably damaging	Het
Npat	C	T	9: 53,473,960 (GRCm39)	S584L	probably benign	Het
Nphp4	A	G	4: 152,581,121 (GRCm39)	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,472,642 (GRCm39)	N51S	possibly damaging	Het
Or2n1e	A	G	17: 38,585,932 (GRCm39)	K90R	probably benign	Het
Or2y16	T	A	11: 49,335,116 (GRCm39)	I146N	possibly damaging	Het
Or5al1	T	C	2: 85,990,280 (GRCm39)	I145V	probably benign	Het
Or5w22	A	G	2: 87,362,427 (GRCm39)	T17A	probably benign	Het
Pced1b	T	A	15: 97,282,758 (GRCm39)	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,507,422 (GRCm39)	V378A	probably damaging	Het
Pde8b	T	A	13: 95,169,374 (GRCm39)	K683N	probably damaging	Het
Pfas	T	G	11: 68,888,872 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plcd4	T	G	1: 74,587,394 (GRCm39)	S51R	probably benign	Het
Plekhh2	T	A	17: 84,884,612 (GRCm39)	Y775*	probably null	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,163,765 (GRCm39)	T47I	possibly damaging	Het
Pter	A	T	2: 12,999,572 (GRCm39)	D169V	probably damaging	Het
Ptpn12	A	G	5: 21,203,168 (GRCm39)	S537P	probably benign	Het
Ptpru	T	A	4: 131,506,361 (GRCm39)	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,229,350 (GRCm39)	D67E	probably damaging	Het
Rfc4	T	C	16: 22,932,983 (GRCm39)	E318G	probably benign	Het
Samd13	C	A	3: 146,368,469 (GRCm39)	R41L	probably benign	Het
Shoc1	T	C	4: 59,113,926 (GRCm39)	K13R	unknown	Het
Slc6a2	T	C	8: 93,699,440 (GRCm39)	I156T	possibly damaging	Het
Spag16	T	C	1: 70,036,015 (GRCm39)	F348L	probably benign	Het
Spag4	T	C	2: 155,907,342 (GRCm39)	Y21H	probably damaging	Het
Stam2	G	A	2: 52,593,187 (GRCm39)	A368V	possibly damaging	Het
Stc1	A	T	14: 69,275,776 (GRCm39)	M190L	probably benign	Het
Stxbp1	A	G	2: 32,690,629 (GRCm39)	L475P	probably damaging	Het
Syn3	A	T	10: 85,916,075 (GRCm39)	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,056,219 (GRCm39)	T251K	probably benign	Het
Tbpl2	A	T	2: 23,985,057 (GRCm39)	M29K	probably benign	Het
Tead3	T	G	17: 28,553,698 (GRCm39)	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 61,049,977 (GRCm39)	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400 (GRCm39)	M124T	probably benign	Het
Ttyh1	T	A	7: 4,122,695 (GRCm39)	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,374 (GRCm39)	W449*	probably null	Het
Txndc11	A	G	16: 10,905,639 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,296,024 (GRCm39)	D2615E	probably damaging	Het
Vars1	A	G	17: 35,233,734 (GRCm39)	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,509,951 (GRCm39)	I542T	probably benign	Het
Vwf	A	G	6: 125,620,032 (GRCm39)	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,662,863 (GRCm39)	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,406,115 (GRCm39)	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,268,879 (GRCm39)	T179I	probably damaging	Het
Zfp599	T	C	9: 22,161,700 (GRCm39)	Y155C	probably benign	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
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'- ACTTTTGGGACCCAATGCAGCAC -3'
(R):5'- GCAGCCTATGGACTCTAACTTTGCC -3'

Sequencing Primer
(F):5'- CATACATAAGGGCCTGTGATGC -3'
(R):5'- tgtgtgaggctatgtgagttg -3'

Posted On

2014-05-14