Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:Epn2'

77661

Institutional Source

Beutler Lab

Gene Symbol

Epn2

Ensembl Gene

ENSMUSG00000001036

Gene Name

epsin 2

Synonyms

Ibp2, 9530051D10Rik

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61517249-61579687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61519491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 611 (N611S)

Ref Sequence

ENSEMBL: ENSMUSP00000104352 (fasta)

Gene Model

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

AlphaFold

Q8CHU3

Predicted Effect

probably benign
Transcript: ENSMUST00000001063
AA Change: N572S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
AA Change: N572S

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
AA Change: N554S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
AA Change: N554S

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: N611S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
AA Change: N611S

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
AA Change: N560S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
AA Change: N560S

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: 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: ENSMUST00000178202
AA Change: N572S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
AA Change: N572S

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
AA Change: N617S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
AA Change: N617S

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

Meta Mutation Damage Score

0.0796

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,364,120	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346		noncoding transcript	Het
Aldh1a7	C	T	19: 20,702,243	V390M	probably damaging	Het
Alg14	A	G	3: 121,298,610	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379		probably benign	Het
Arl2	T	G	19: 6,136,022	K126T	probably damaging	Het
Ascc3	T	C	10: 50,845,666	W2072R	probably benign	Het
Astl	T	C	2: 127,342,419	F21L	probably benign	Het
Asxl3	A	G	18: 22,516,040	D362G	probably damaging	Het
Bdp1	A	T	13: 100,035,825	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cbwd1	A	G	19: 24,940,839		probably benign	Het
Ccdc144b	A	G	3: 36,020,213		probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd226	A	C	18: 89,207,020		probably benign	Het
Ces1f	A	T	8: 93,270,024	S214T	probably damaging	Het
Clip1	T	C	5: 123,630,721	D605G	probably benign	Het
Col26a1	A	G	5: 136,765,300		probably null	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
D17H6S53E	A	T	17: 35,127,409		probably null	Het
D17Wsu92e	A	T	17: 27,786,138	S148R	probably damaging	Het
Dnah11	G	A	12: 118,196,662	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519		probably benign	Het
Erich6	A	C	3: 58,618,944		probably benign	Het
Fam217b	T	C	2: 178,420,989	S249P	probably benign	Het
Fam219b	A	G	9: 57,538,016		probably benign	Het
Fryl	A	T	5: 73,089,081		probably benign	Het
Gm12800	G	A	4: 101,910,097	C181Y	probably damaging	Het
Gm13089	A	T	4: 143,698,486	M129K	probably benign	Het
Gm14496	T	C	2: 181,996,266	W378R	probably damaging	Het
Gm5155	C	A	7: 17,904,981	A301E	possibly damaging	Het
Gm8674	A	T	13: 49,904,575		noncoding transcript	Het
Grap	T	A	11: 61,660,239	D32E	possibly damaging	Het
Grk2	C	A	19: 4,289,357	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,179	E779V	probably damaging	Het
Hipk1	A	G	3: 103,754,296	S670P	probably damaging	Het
Itgae	A	T	11: 73,129,206	M845L	probably benign	Het
Itih1	A	T	14: 30,941,555	V164E	probably damaging	Het
Itpka	T	A	2: 119,750,831	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,839,668	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,718,193		probably null	Het
March6	T	C	15: 31,480,291	Y562C	probably benign	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Meis1	G	A	11: 18,881,767	H424Y	possibly damaging	Het
Mst1r	G	A	9: 107,913,167	V660I	probably benign	Het
Mst1r	A	G	9: 107,914,776	N837S	probably benign	Het
Mthfd2l	T	C	5: 90,946,942	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Olfr1513	T	C	14: 52,349,378	I223V	probably benign	Het
Olfr578	C	A	7: 102,984,836	L109F	possibly damaging	Het
Olfr875	T	C	9: 37,773,076	V139A	probably benign	Het
Otog	C	T	7: 46,269,362	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,316,324		probably benign	Het
Phlpp2	A	G	8: 109,937,106	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907		probably benign	Het
Plekha5	T	A	6: 140,589,634		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553	F85I	probably damaging	Het
Rgs1	A	T	1: 144,247,933	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184	A127T	probably benign	Het
Shc1	A	G	3: 89,422,969	D70G	probably damaging	Het
Slc26a1	T	A	5: 108,673,523	T167S	probably benign	Het
Slc26a7	A	T	4: 14,593,873	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,702,016		probably benign	Het
Slc30a7	T	A	3: 115,990,140		probably null	Het
Slc44a5	T	C	3: 154,265,474	S654P	probably damaging	Het
Stard9	T	G	2: 120,696,999	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099	S116R	probably damaging	Het
Syvn1	C	T	19: 6,052,453	P517L	probably benign	Het
Tas2r105	T	C	6: 131,687,430	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362	S216P	probably damaging	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tgm3	C	T	2: 130,026,682		probably benign	Het
Tle2	T	C	10: 81,588,947	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949	A704S	probably benign	Het
Trabd2b	A	G	4: 114,580,322	Q232R	probably benign	Het
Ttc28	T	A	5: 111,231,081	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,479,541	C25*	probably null	Het
Ugt3a2	A	G	15: 9,370,150	D460G	probably damaging	Het
Urb1	T	C	16: 90,795,448	D308G	possibly damaging	Het
Ush1g	G	T	11: 115,318,868	R167S	possibly damaging	Het
Vav3	A	G	3: 109,647,679	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459	D267E	probably benign	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
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
R7439:Epn2	UTSW	11	61546848	start gained	probably benign
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'- ACCTCCTTTCCAGACCTCAGTAGTG -3'
(R):5'- AGTGTCTTCCAGTGGCTCATCCTG -3'

Sequencing Primer
(F):5'- TCTTTCACCAGGAAGCTGGAC -3'
(R):5'- TTACCAGGTGCTGCTGC -3'

Posted On

2013-10-16