Incidental Mutation 'R2904:Ap2a2'
| ID |
261583 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040491-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
R2904 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141142093-141212924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141199391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 433
(K433E)
|
| 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 damaging
Transcript: ENSMUST00000003038
AA Change: K433E
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003038
Gene: ENSMUSG00000002957
AA Change: K433E
| 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: ENSMUST00000184158
|
| Meta Mutation Damage Score |
0.4563 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
T |
C |
5: 100,957,673 (GRCm39) |
E182G |
probably benign |
Het |
| Acot4 |
C |
G |
12: 84,090,377 (GRCm39) |
T358S |
probably benign |
Het |
| Card11 |
T |
A |
5: 140,874,888 (GRCm39) |
D592V |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
| Crisp1 |
C |
T |
17: 40,623,895 (GRCm39) |
|
probably null |
Het |
| Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,772,080 (GRCm39) |
N79S |
possibly damaging |
Het |
| Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
| Gmpr2 |
T |
C |
14: 55,910,215 (GRCm39) |
V15A |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,430,787 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdm4b |
G |
A |
17: 56,662,884 (GRCm39) |
G152S |
probably benign |
Het |
| Kdm6b |
G |
A |
11: 69,296,611 (GRCm39) |
T552I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,127,069 (GRCm39) |
Y307C |
probably damaging |
Het |
| Kif11 |
T |
C |
19: 37,392,103 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
C |
T |
2: 91,006,017 (GRCm39) |
V20M |
probably damaging |
Het |
| Mkrn3 |
C |
A |
7: 62,068,207 (GRCm39) |
R528L |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,148,348 (GRCm39) |
V508A |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,512,976 (GRCm39) |
D28G |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,448,294 (GRCm39) |
W166R |
probably damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,705 (GRCm39) |
L203Q |
possibly damaging |
Het |
| Or5p59 |
T |
C |
7: 107,702,806 (GRCm39) |
Y97H |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,553,756 (GRCm39) |
D119V |
possibly damaging |
Het |
| Smarcc1 |
A |
G |
9: 110,003,043 (GRCm39) |
N378D |
possibly damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,632,185 (GRCm39) |
N772S |
possibly damaging |
Het |
| Trim21 |
A |
G |
7: 102,209,178 (GRCm39) |
W282R |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,296,521 (GRCm39) |
Y447F |
possibly damaging |
Het |
| Zfp160 |
G |
A |
17: 21,245,911 (GRCm39) |
V154I |
probably benign |
Het |
|
| Other mutations in Ap2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01112:Ap2a2
|
APN |
7 |
141,184,932 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTGGCCTCTGAAGATC -3'
(R):5'- GTGACAGTAGCCACCCTTCC -3'
Sequencing Primer
(F):5'- GCCTCTGAAGATCTGAAAGTGTCC -3'
(R):5'- ACTTCCTTGGTGATGAACAGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation