Incidental Mutation 'IGL01112:Ap2a2'
| ID |
51573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ap2a2
|
| Ensembl Gene |
ENSMUSG00000002957 |
| Gene Name |
adaptor-related protein complex 2, alpha 2 subunit |
| Synonyms |
Adtab, 2410074K14Rik, L25, alpha-C adaptin, alpha-adaptin C |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
IGL01112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
141142093-141212924 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 141184932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003038]
|
| AlphaFold |
P17427 |
| PDB Structure |
ALPHA-ADAPTIN APPENDAGE DOMAIN, FROM CLATHRIN ADAPTOR AP2 [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPSIN DPW PEPTIDE [X-RAY DIFFRACTION]
THE AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH AMPHIPHYSIN FXDXF [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPSIN DPW PEPTIDE [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPS15 DPF PEPTIDE [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPS15 DPF PEPTIDE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ALPHA-ADAPTIN APPENDAGE DOMAIN, FROM THE AP2 ADAPTOR COMPLEX, BOUND TO 2 PEPTIDES FROM SYNAPTOJANIN170 [X-RAY DIFFRACTION]
AP2 CLATHRIN ADAPTOR CORE with Dileucine peptide RM(phosphoS)QIKRLLSE [X-RAY DIFFRACTION]
>> 3 additional structures at PDB <<
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003038
|
| SMART Domains |
Protein: ENSMUSP00000003038
Gene: ENSMUSG00000002957
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
590 |
1.7e-147 |
PFAM |
|
low complexity region
|
646 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
684 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
706 |
819 |
1.45e-26 |
SMART |
|
Pfam:Alpha_adaptin_C
|
825 |
933 |
2.8e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201320
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
T |
C |
7: 144,190,882 (GRCm39) |
I401V |
possibly damaging |
Het |
| Apol7c |
T |
A |
15: 77,410,637 (GRCm39) |
D103V |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,119,507 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
A |
G |
7: 126,049,479 (GRCm39) |
V521A |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,883,062 (GRCm39) |
D1603E |
probably benign |
Het |
| Clec4f |
T |
C |
6: 83,630,182 (GRCm39) |
I125M |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,227,679 (GRCm39) |
I520V |
probably benign |
Het |
| Eomes |
G |
A |
9: 118,311,334 (GRCm39) |
A386T |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,135,913 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
G |
T |
5: 121,445,013 (GRCm39) |
M1420I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,508,303 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
G |
A |
12: 114,355,335 (GRCm39) |
T118I |
possibly damaging |
Het |
| Krt82 |
A |
G |
15: 101,453,958 (GRCm39) |
F250S |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,576 (GRCm39) |
T27A |
probably benign |
Het |
| Mex3b |
T |
A |
7: 82,518,911 (GRCm39) |
S409T |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,315,745 (GRCm39) |
I39N |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,235 (GRCm39) |
|
probably benign |
Het |
| Palmd |
A |
G |
3: 116,717,922 (GRCm39) |
S192P |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,704,636 (GRCm39) |
M888K |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,731,083 (GRCm39) |
H3195L |
unknown |
Het |
| Pgm2 |
A |
T |
5: 64,260,225 (GRCm39) |
I137F |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
| Rmnd1 |
T |
C |
10: 4,360,793 (GRCm39) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,354,459 (GRCm39) |
M180T |
probably damaging |
Het |
| Sap30 |
A |
G |
8: 57,938,123 (GRCm39) |
F165L |
possibly damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,059 (GRCm39) |
|
probably benign |
Het |
| Sftpa1 |
A |
T |
14: 40,854,527 (GRCm39) |
N38I |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,152,977 (GRCm39) |
F137S |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,219,093 (GRCm39) |
R284L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,703 (GRCm39) |
R26730Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,540,808 (GRCm39) |
R25732S |
probably damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,004,082 (GRCm39) |
V41A |
probably benign |
Het |
| Usp53 |
T |
A |
3: 122,751,367 (GRCm39) |
Q230L |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,074,467 (GRCm39) |
E532G |
probably damaging |
Het |
| Vps9d1 |
G |
T |
8: 123,972,769 (GRCm39) |
N454K |
probably damaging |
Het |
| Wdr55 |
T |
C |
18: 36,895,132 (GRCm39) |
|
probably null |
Het |
| Zfp263 |
T |
A |
16: 3,566,776 (GRCm39) |
C76S |
probably benign |
Het |
|
| Other mutations in Ap2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02664:Ap2a2
|
APN |
7 |
141,209,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02973:Ap2a2
|
APN |
7 |
141,211,277 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03366:Ap2a2
|
APN |
7 |
141,209,186 (GRCm39) |
missense |
probably benign |
|
|
R0345:Ap2a2
|
UTSW |
7 |
141,211,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Ap2a2
|
UTSW |
7 |
141,178,689 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2904:Ap2a2
|
UTSW |
7 |
141,199,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3412:Ap2a2
|
UTSW |
7 |
141,178,689 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3413:Ap2a2
|
UTSW |
7 |
141,178,689 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4962:Ap2a2
|
UTSW |
7 |
141,210,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5602:Ap2a2
|
UTSW |
7 |
141,184,855 (GRCm39) |
missense |
probably benign |
|
|
R5910:Ap2a2
|
UTSW |
7 |
141,178,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Ap2a2
|
UTSW |
7 |
141,182,220 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7003:Ap2a2
|
UTSW |
7 |
141,209,109 (GRCm39) |
missense |
probably benign |
|
|
R7132:Ap2a2
|
UTSW |
7 |
141,199,478 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7140:Ap2a2
|
UTSW |
7 |
141,178,777 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7227:Ap2a2
|
UTSW |
7 |
141,200,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Ap2a2
|
UTSW |
7 |
141,206,049 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7482:Ap2a2
|
UTSW |
7 |
141,182,210 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7632:Ap2a2
|
UTSW |
7 |
141,211,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7991:Ap2a2
|
UTSW |
7 |
141,189,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Ap2a2
|
UTSW |
7 |
141,178,757 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8271:Ap2a2
|
UTSW |
7 |
141,200,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8308:Ap2a2
|
UTSW |
7 |
141,210,212 (GRCm39) |
missense |
probably benign |
|
|
R8462:Ap2a2
|
UTSW |
7 |
141,210,394 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8971:Ap2a2
|
UTSW |
7 |
141,191,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9368:Ap2a2
|
UTSW |
7 |
141,207,815 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9502:Ap2a2
|
UTSW |
7 |
141,178,689 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-06-21 |
Incidental Mutation