Incidental Mutation 'IGL02375:Epn2'
ID291073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epn2
Ensembl Gene ENSMUSG00000001036
Gene Nameepsin 2
SynonymsIbp2, 9530051D10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02375
Quality Score
Status
Chromosome11
Chromosomal Location61517249-61579687 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61519671 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 512 (V512A)
Ref Sequence ENSEMBL: ENSMUSP00000136553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001063] [ENSMUST00000108711] [ENSMUST00000108712] [ENSMUST00000108713] [ENSMUST00000178202] [ENSMUST00000179936]
Predicted Effect probably damaging
Transcript: ENSMUST00000001063
AA Change: V512A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
AA Change: V512A

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 damaging
Transcript: ENSMUST00000108711
AA Change: V494A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
AA Change: V494A

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 damaging
Transcript: ENSMUST00000108712
AA Change: V551A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
AA Change: V551A

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: V500A

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
AA Change: V500A

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 damaging
Transcript: ENSMUST00000178202
AA Change: V512A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
AA Change: V512A

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 damaging
Transcript: ENSMUST00000179936
AA Change: V557A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
AA Change: V557A

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
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F07Rik A G 2: 173,522,703 M14V probably benign Het
1700034J05Rik T A 6: 146,953,315 K76N possibly damaging Het
Agxt A G 1: 93,135,703 E109G probably damaging Het
Alcam T C 16: 52,288,936 T325A probably benign Het
Apol7c T C 15: 77,528,849 E67G probably damaging Het
Bco1 C A 8: 117,113,439 S232Y probably benign Het
Cacna1c A T 6: 118,675,923 V763D probably damaging Het
Ccdc15 T C 9: 37,304,332 D618G probably damaging Het
Col6a5 T C 9: 105,906,113 N1603S unknown Het
Cyp4v3 A G 8: 45,308,374 probably null Het
Eml5 A T 12: 98,844,087 V870E probably damaging Het
Fam71b G T 11: 46,406,552 V228L probably damaging Het
Farp2 A G 1: 93,576,463 R321G probably damaging Het
Gprasp1 T C X: 135,800,803 S582P probably damaging Het
Grhl2 T C 15: 37,291,577 V303A probably damaging Het
Grik1 A T 16: 87,946,556 F594L probably damaging Het
Hivep1 A G 13: 42,156,449 K722E probably benign Het
Htr5b G A 1: 121,527,835 R119C probably damaging Het
Ifit2 T C 19: 34,574,337 S426P probably benign Het
Kif13a T C 13: 46,825,222 Y234C probably damaging Het
Mios T A 6: 8,222,598 F511I probably benign Het
Mtfmt T C 9: 65,439,567 W148R probably damaging Het
Myo1c C A 11: 75,661,574 T391N probably benign Het
Nlrp1a A T 11: 71,113,513 L710* probably null Het
Nlrp1b A G 11: 71,161,680 I971T probably damaging Het
Nup43 A G 10: 7,673,594 D171G probably damaging Het
Olfr1445 A G 19: 12,883,941 E20G probably benign Het
P2rx7 T C 5: 122,673,656 probably benign Het
Poli C T 18: 70,523,292 G155R probably damaging Het
Rad9b T C 5: 122,333,342 S220G possibly damaging Het
Rgn C T X: 20,550,461 S28L probably damaging Het
Tcp11l2 G A 10: 84,605,068 probably null Het
Tenm4 G A 7: 96,704,137 V379I possibly damaging Het
Thsd7a A T 6: 12,343,265 C1118S probably damaging Het
Tmem8 T A 17: 26,119,499 Y512N probably benign Het
Trpm7 A G 2: 126,825,744 Y776H probably damaging Het
Trpv4 T C 5: 114,636,357 N222S probably benign Het
Tut1 C T 19: 8,964,039 R397C probably damaging Het
Vmn1r72 T A 7: 11,669,745 T259S probably benign Het
Wdr17 A G 8: 54,696,388 S2P possibly damaging Het
Other mutations in Epn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Epn2 APN 11 61523086 missense probably benign 0.00
IGL01582:Epn2 APN 11 61521869 missense probably benign 0.00
IGL03213:Epn2 APN 11 61519684 missense probably damaging 0.99
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
R7439:Epn2 UTSW 11 61546848 start gained probably benign
Posted On2015-04-16