Incidental Mutation 'R1743:Epn2'
ID 200523
Institutional Source Beutler Lab
Gene Symbol Epn2
Ensembl Gene ENSMUSG00000001036
Gene Name epsin 2
Synonyms Ibp2, 9530051D10Rik
MMRRC Submission 039775-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1743 (G1)
Quality Score 171
Status Not validated
Chromosome 11
Chromosomal Location 61408075-61470513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61437237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 112 (I112F)
Ref Sequence ENSEMBL: ENSMUSP00000104351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001063] [ENSMUST00000108711] [ENSMUST00000108712] [ENSMUST00000108713] [ENSMUST00000146455] [ENSMUST00000179936] [ENSMUST00000178202] [ENSMUST00000147501]
AlphaFold Q8CHU3
Predicted Effect possibly damaging
Transcript: ENSMUST00000001063
AA Change: I112F

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
AA Change: I112F

DomainStartEndE-ValueType
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: I112F

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
AA Change: I112F

DomainStartEndE-ValueType
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: I112F

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
AA Change: I112F

DomainStartEndE-ValueType
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: I112F

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
AA Change: I112F

DomainStartEndE-ValueType
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: ENSMUST00000179936
AA Change: I112F

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
AA Change: I112F

DomainStartEndE-ValueType
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: I112F

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
AA Change: I112F

DomainStartEndE-ValueType
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: ENSMUST00000147501
SMART Domains Protein: ENSMUSP00000117389
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
Pfam:ENTH 17 80 2.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153984
SMART Domains Protein: ENSMUSP00000122666
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
UIM 72 91 3.37e-1 SMART
UIM 109 128 2.48e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148956
SMART Domains Protein: ENSMUSP00000122514
Gene: ENSMUSG00000001036

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T A 11: 53,259,522 (GRCm39) M11K possibly damaging Het
Ank2 T C 3: 126,722,324 (GRCm39) D88G probably damaging Het
Arhgap32 A G 9: 32,170,727 (GRCm39) E1169G probably benign Het
Atp7b A T 8: 22,496,403 (GRCm39) V865E probably damaging Het
Bcl2l13 T A 6: 120,825,504 (GRCm39) Y13* probably null Het
Birc6 A G 17: 74,886,751 (GRCm39) Q693R possibly damaging Het
Bub1 T C 2: 127,655,770 (GRCm39) D520G probably damaging Het
Ccdc15 A T 9: 37,188,773 (GRCm39) Y770* probably null Het
Cenpf T C 1: 189,386,460 (GRCm39) E1940G probably benign Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Cmya5 A G 13: 93,233,825 (GRCm39) V421A probably benign Het
Cnnm1 A T 19: 43,460,352 (GRCm39) Y698F possibly damaging Het
Cnst C T 1: 179,437,957 (GRCm39) T507I probably benign Het
Coq8a T C 1: 180,009,794 (GRCm39) M4V probably benign Het
Csmd3 A G 15: 48,485,485 (GRCm39) L140P probably damaging Het
Cul2 A T 18: 3,426,851 (GRCm39) I431F probably damaging Het
Dnah8 G T 17: 30,988,625 (GRCm39) E3198D probably benign Het
Dnai3 C A 3: 145,803,017 (GRCm39) R58L possibly damaging Het
Ext2 T C 2: 93,560,570 (GRCm39) E532G probably damaging Het
Fndc3a A T 14: 72,889,521 (GRCm39) V37E probably damaging Het
Gabbr2 A G 4: 46,677,603 (GRCm39) F759S possibly damaging Het
Ghr G A 15: 3,349,723 (GRCm39) P485L probably benign Het
Glipr1l2 G T 10: 111,928,470 (GRCm39) V122L probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm6871 G T 7: 41,195,876 (GRCm39) T287K probably damaging Het
Gm7275 A G 16: 47,894,120 (GRCm39) noncoding transcript Het
Hephl1 C T 9: 15,001,364 (GRCm39) V254I probably damaging Het
Hnf4a C A 2: 163,408,259 (GRCm39) Q362K possibly damaging Het
Kcne3 C T 7: 99,833,631 (GRCm39) R83C probably damaging Het
Klb C A 5: 65,533,204 (GRCm39) N504K probably damaging Het
Loxl2 T A 14: 69,929,851 (GRCm39) I743N possibly damaging Het
Lrrc9 A T 12: 72,502,891 (GRCm39) L287F probably damaging Het
Mcm3ap C T 10: 76,320,508 (GRCm39) P822L possibly damaging Het
Nacc2 T C 2: 25,950,155 (GRCm39) N527S probably benign Het
Ncam1 G T 9: 49,468,445 (GRCm39) P338H probably damaging Het
Nfkbiz G T 16: 55,636,757 (GRCm39) Q515K possibly damaging Het
Nipsnap2 T C 5: 129,834,149 (GRCm39) L263P probably damaging Het
Nlrp1a A T 11: 71,015,032 (GRCm39) S73T probably benign Het
Nomo1 G A 7: 45,719,461 (GRCm39) probably null Het
Nos3 G A 5: 24,582,310 (GRCm39) G594D probably benign Het
Oprm1 A G 10: 6,780,105 (GRCm39) I256V probably damaging Het
Or10ak16 A G 4: 118,750,723 (GRCm39) T148A probably benign Het
Or10n1 A T 9: 39,524,916 (GRCm39) T18S possibly damaging Het
Or2b2 A G 13: 21,887,620 (GRCm39) I150V probably benign Het
Oxct2a A T 4: 123,217,309 (GRCm39) L24Q possibly damaging Het
Pcdhb14 T G 18: 37,581,231 (GRCm39) S112R probably benign Het
Polr2a A G 11: 69,630,329 (GRCm39) I1246T probably damaging Het
Ppil4 A T 10: 7,683,145 (GRCm39) K327N probably damaging Het
Pramel30 T C 4: 144,059,575 (GRCm39) S429P probably benign Het
Pstpip1 T C 9: 56,033,214 (GRCm39) Y249H probably damaging Het
Qrsl1 A T 10: 43,757,511 (GRCm39) V369E probably damaging Het
Ranbp10 G T 8: 106,506,610 (GRCm39) P237T probably damaging Het
Rapgef6 A G 11: 54,567,110 (GRCm39) N1097S probably damaging Het
Repin1 T A 6: 48,574,684 (GRCm39) S538T probably damaging Het
Rims2 A T 15: 39,543,046 (GRCm39) M1151L probably benign Het
Rin3 T A 12: 102,356,355 (GRCm39) D965E possibly damaging Het
Sdc2 A G 15: 33,028,224 (GRCm39) D114G probably benign Het
Slc25a30 C A 14: 76,012,523 (GRCm39) A42S probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Ssh2 T A 11: 77,328,582 (GRCm39) F383I probably damaging Het
St8sia1 A T 6: 142,774,742 (GRCm39) V279E probably damaging Het
Tacc2 C A 7: 130,228,328 (GRCm39) S1690* probably null Het
Taf1b A G 12: 24,597,177 (GRCm39) D372G possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem165 G T 5: 76,355,673 (GRCm39) G272C probably damaging Het
Tsc22d2 TCAGTTAACACCTATGAACAGT TCAGT 3: 58,324,960 (GRCm39) probably null Het
Tssk4 C A 14: 55,888,488 (GRCm39) A119D probably damaging Het
Usp9y A G Y: 1,316,727 (GRCm39) Y1941H probably damaging Het
Vmn2r42 A T 7: 8,187,264 (GRCm39) M786K probably benign Het
Wdfy3 G T 5: 101,991,931 (GRCm39) T3470K probably benign Het
Zc3h14 T C 12: 98,745,448 (GRCm39) V479A probably benign Het
Zfp821 G A 8: 110,450,796 (GRCm39) R263Q probably damaging Het
Other mutations in Epn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2014-05-23