Incidental Mutation 'R6669:Epn2'
ID 528064
Institutional Source Beutler Lab
Gene Symbol Epn2
Ensembl Gene ENSMUSG00000001036
Gene Name epsin 2
Synonyms Ibp2, 9530051D10Rik
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6669 (G1)
Quality Score 192.009
Status Validated
Chromosome 11
Chromosomal Location 61408075-61470513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61410384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 550 (V550I)
Ref Sequence ENSEMBL: ENSMUSP00000136553 (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: V550I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
AA Change: V550I

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 probably benign
Transcript: ENSMUST00000108711
AA Change: V532I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
AA Change: V532I

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: V589I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
AA Change: V589I

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 probably benign
Transcript: ENSMUST00000108713
AA Change: V538I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
AA Change: V538I

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000178202
AA Change: V550I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
AA Change: V550I

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 probably benign
Transcript: ENSMUST00000179936
AA Change: V595I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
AA Change: V595I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A 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
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
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'- AACAGAGTGAGTCCCCACTTG -3'
(R):5'- CAGTGGCTCATCCTGTGTTC -3'

Sequencing Primer
(F):5'- GAGTGAGTCCCCACTTGACATC -3'
(R):5'- GTTCTTGCTCTTTTACCAGGTGCTG -3'
Posted On 2018-07-24