Incidental Mutation 'R4696:Epn2'
| ID |
355713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epn2
|
| Ensembl Gene |
ENSMUSG00000001036 |
| Gene Name |
epsin 2 |
| Synonyms |
Ibp2, 9530051D10Rik |
| MMRRC Submission |
041946-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61408075-61470513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 61426129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 283
(A283P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001063]
[ENSMUST00000108711]
[ENSMUST00000108712]
[ENSMUST00000108713]
[ENSMUST00000178202]
[ENSMUST00000179936]
|
| AlphaFold |
Q8CHU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001063
AA Change: A226P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001063
Gene: ENSMUSG00000001036
AA Change: A226P
| 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 damaging
Transcript: ENSMUST00000108711
AA Change: A226P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104351
Gene: ENSMUSG00000001036
AA Change: A226P
| 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 damaging
Transcript: ENSMUST00000108712
AA Change: A283P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104352
Gene: ENSMUSG00000001036
AA Change: A283P
| 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 damaging
Transcript: ENSMUST00000108713
AA Change: A226P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104353
Gene: ENSMUSG00000001036
AA Change: A226P
| 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 |
unknown
Transcript: ENSMUST00000148956
AA Change: A159P
|
| SMART Domains |
Protein: ENSMUSP00000122514
Gene: ENSMUSG00000001036
AA Change: A159P
| 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 |
noncoding transcript
Transcript: ENSMUST00000151545
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153984
AA Change: A79P
|
| SMART Domains |
Protein: ENSMUSP00000122666
Gene: ENSMUSG00000001036
AA Change: A79P
| Domain | Start | End | E-Value | Type |
|---|
|
UIM
|
72 |
91 |
3.37e-1 |
SMART |
|
UIM
|
109 |
128 |
2.48e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178202
AA Change: A226P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136553
Gene: ENSMUSG00000001036
AA Change: A226P
| 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 damaging
Transcript: ENSMUST00000179936
AA Change: A283P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136950
Gene: ENSMUSG00000001036
AA Change: A283P
| 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 |
0.3257 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
99% (74/75) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,241,817 (GRCm39) |
S1405G |
probably benign |
Het |
| Acaca |
T |
C |
11: 84,171,261 (GRCm39) |
V1165A |
possibly damaging |
Het |
| Acin1 |
C |
A |
14: 54,880,474 (GRCm39) |
|
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,340,312 (GRCm39) |
V159I |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,597,504 (GRCm39) |
Y777H |
probably damaging |
Het |
| Cblc |
C |
A |
7: 19,530,407 (GRCm39) |
G101C |
probably damaging |
Het |
| Cdc42ep5 |
G |
A |
7: 4,154,614 (GRCm39) |
P58L |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,987,908 (GRCm39) |
N1532S |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,714 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,617,146 (GRCm39) |
I835V |
probably benign |
Het |
| Cntrob |
C |
T |
11: 69,211,714 (GRCm39) |
G170D |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,235,998 (GRCm39) |
Q304R |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,777,364 (GRCm39) |
T1181A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,413,834 (GRCm39) |
F994L |
probably damaging |
Het |
| Ddx42 |
C |
A |
11: 106,138,529 (GRCm39) |
A776D |
probably benign |
Het |
| Disp2 |
G |
T |
2: 118,622,165 (GRCm39) |
E966* |
probably null |
Het |
| Dmpk |
A |
T |
7: 18,822,139 (GRCm39) |
N366Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,580,674 (GRCm39) |
Y362C |
possibly damaging |
Het |
| Dock10 |
C |
T |
1: 80,493,330 (GRCm39) |
G1880D |
possibly damaging |
Het |
| Dzip1l |
A |
G |
9: 99,545,664 (GRCm39) |
R638G |
possibly damaging |
Het |
| Dzip3 |
T |
A |
16: 48,746,332 (GRCm39) |
|
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Eno4 |
T |
C |
19: 58,934,068 (GRCm39) |
S90P |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,397,543 (GRCm39) |
Y67* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,175,841 (GRCm39) |
N1624S |
probably benign |
Het |
| Fez1 |
T |
A |
9: 36,781,766 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
T |
C |
8: 26,053,504 (GRCm39) |
S260P |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,293,220 (GRCm39) |
S532G |
probably benign |
Het |
| Gm15455 |
A |
T |
1: 33,876,874 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
A |
G |
5: 143,377,131 (GRCm39) |
|
probably benign |
Het |
| Guca2b |
C |
A |
4: 119,513,996 (GRCm39) |
G129V |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,372,124 (GRCm39) |
E65G |
probably damaging |
Het |
| Itgbl1 |
T |
C |
14: 124,204,120 (GRCm39) |
C404R |
probably damaging |
Het |
| Kansl1 |
C |
T |
11: 104,247,593 (GRCm39) |
V586I |
possibly damaging |
Het |
| Krt18 |
A |
G |
15: 101,940,293 (GRCm39) |
D390G |
probably benign |
Het |
| Laptm5 |
T |
C |
4: 130,660,982 (GRCm39) |
|
probably benign |
Het |
| Lgals3bp |
C |
T |
11: 118,288,977 (GRCm39) |
E116K |
probably benign |
Het |
| Lrrc39 |
C |
T |
3: 116,363,769 (GRCm39) |
S114F |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,419,117 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,899,931 (GRCm39) |
H481R |
probably benign |
Het |
| Ntm |
T |
C |
9: 29,090,501 (GRCm39) |
T73A |
possibly damaging |
Het |
| Or5m13b |
T |
A |
2: 85,749,215 (GRCm39) |
|
probably null |
Het |
| Or8g4 |
T |
A |
9: 39,662,024 (GRCm39) |
M114K |
probably damaging |
Het |
| Pbk |
G |
A |
14: 66,049,386 (GRCm39) |
C21Y |
probably benign |
Het |
| Pglyrp1 |
A |
G |
7: 18,618,871 (GRCm39) |
E74G |
probably benign |
Het |
| R3hdm1 |
G |
T |
1: 128,164,503 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,633,375 (GRCm39) |
T599A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,203,798 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
A |
T |
1: 22,358,836 (GRCm39) |
M1273K |
probably damaging |
Het |
| Sbf1 |
G |
A |
15: 89,187,315 (GRCm39) |
R721* |
probably null |
Het |
| Slc17a1 |
T |
C |
13: 24,064,700 (GRCm39) |
I388T |
probably damaging |
Het |
| Sprn |
A |
C |
7: 139,733,469 (GRCm39) |
|
probably benign |
Het |
| Tango6 |
T |
C |
8: 107,426,863 (GRCm39) |
V459A |
possibly damaging |
Het |
| Tert |
C |
T |
13: 73,775,939 (GRCm39) |
T230I |
probably benign |
Het |
| Thada |
T |
C |
17: 84,733,614 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,851,549 (GRCm39) |
N838K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,597,997 (GRCm39) |
W19639R |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,135,983 (GRCm39) |
S924T |
probably benign |
Het |
| Upb1 |
A |
G |
10: 75,250,861 (GRCm39) |
E110G |
probably benign |
Het |
| Vegfa |
C |
T |
17: 46,339,272 (GRCm39) |
|
probably null |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,901 (GRCm39) |
K5E |
possibly damaging |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,168 (GRCm39) |
I130F |
probably benign |
Het |
| Wscd2 |
T |
A |
5: 113,689,240 (GRCm39) |
V82E |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,008,612 (GRCm39) |
T193A |
probably benign |
Het |
| Zfp467 |
A |
G |
6: 48,416,291 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
T |
C |
7: 39,186,412 (GRCm39) |
L814P |
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 |
|
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 |
|
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'- GTAGTTATAGCTCTGCCTGGGC -3'
(R):5'- CCATGTGGGTTTGAGATGAAAAC -3'
Sequencing Primer
(F):5'- GCTCAGAATGCATTGTAGCC -3'
(R):5'- TGGGTTTGAGATGAAAACTGAGTAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation