Incidental Mutation 'R8462:Ap2a2'
| ID |
656607 |
| 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 |
067906-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
R8462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141142093-141212924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141210394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 883
(N883K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003038]
[ENSMUST00000062451]
[ENSMUST00000189314]
[ENSMUST00000190907]
|
| 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: N883K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003038
Gene: ENSMUSG00000002957
AA Change: N883K
| 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 |
probably benign
Transcript: ENSMUST00000062451
|
| SMART Domains |
Protein: ENSMUSP00000049941
Gene: ENSMUSG00000048191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
VWD
|
29 |
234 |
2.49e-14 |
SMART |
|
C8
|
267 |
340 |
5.46e-3 |
SMART |
|
Pfam:TIL
|
344 |
399 |
5.6e-14 |
PFAM |
|
VWC
|
401 |
469 |
2.57e-7 |
SMART |
|
VWD
|
428 |
591 |
4.81e-30 |
SMART |
|
C8
|
627 |
703 |
8.84e-21 |
SMART |
|
SCOP:d1coua_
|
706 |
769 |
7e-9 |
SMART |
|
Pfam:TIL
|
806 |
869 |
1.9e-9 |
PFAM |
|
VWC
|
871 |
941 |
8.52e-3 |
SMART |
|
VWD
|
898 |
1060 |
1.59e-30 |
SMART |
|
C8
|
1096 |
1170 |
5.52e-31 |
SMART |
|
Blast:CT
|
1184 |
1236 |
2e-19 |
BLAST |
|
low complexity region
|
1240 |
1269 |
N/A |
INTRINSIC |
|
low complexity region
|
1275 |
1293 |
N/A |
INTRINSIC |
|
low complexity region
|
1313 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1374 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1375 |
1560 |
6.78e-17 |
PROSPERO |
|
internal_repeat_2
|
1426 |
1751 |
8.94e-34 |
PROSPERO |
|
low complexity region
|
1761 |
1780 |
N/A |
INTRINSIC |
|
low complexity region
|
1867 |
1887 |
N/A |
INTRINSIC |
|
low complexity region
|
1896 |
1910 |
N/A |
INTRINSIC |
|
low complexity region
|
1912 |
1946 |
N/A |
INTRINSIC |
|
low complexity region
|
1990 |
2004 |
N/A |
INTRINSIC |
|
low complexity region
|
2010 |
2020 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2036 |
2430 |
8.94e-34 |
PROSPERO |
|
internal_repeat_3
|
2329 |
2516 |
6.78e-17 |
PROSPERO |
|
low complexity region
|
2519 |
2536 |
N/A |
INTRINSIC |
|
low complexity region
|
2564 |
2587 |
N/A |
INTRINSIC |
|
low complexity region
|
2605 |
2630 |
N/A |
INTRINSIC |
|
low complexity region
|
2642 |
2677 |
N/A |
INTRINSIC |
|
low complexity region
|
2729 |
2762 |
N/A |
INTRINSIC |
|
Blast:CT
|
2765 |
2852 |
1e-44 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189314
|
| SMART Domains |
Protein: ENSMUSP00000140388
Gene: ENSMUSG00000048191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
VWD
|
29 |
193 |
2.64e-27 |
SMART |
|
C8
|
226 |
299 |
5.46e-3 |
SMART |
|
Pfam:TIL
|
303 |
358 |
1.4e-13 |
PFAM |
|
VWC
|
360 |
428 |
2.57e-7 |
SMART |
|
VWD
|
387 |
550 |
4.81e-30 |
SMART |
|
C8
|
586 |
662 |
8.84e-21 |
SMART |
|
internal_repeat_2
|
665 |
754 |
5.76e-7 |
PROSPERO |
|
Pfam:TIL
|
765 |
828 |
6.4e-9 |
PFAM |
|
VWC
|
830 |
900 |
8.52e-3 |
SMART |
|
VWD
|
857 |
1019 |
1.59e-30 |
SMART |
|
C8
|
1055 |
1129 |
5.52e-31 |
SMART |
|
low complexity region
|
1199 |
1228 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1252 |
N/A |
INTRINSIC |
|
low complexity region
|
1272 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1304 |
1333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190907
|
| SMART Domains |
Protein: ENSMUSP00000140483
Gene: ENSMUSG00000048191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
VWD
|
29 |
234 |
1.2e-16 |
SMART |
|
C8
|
267 |
340 |
4.2e-7 |
SMART |
|
Pfam:TIL
|
344 |
399 |
7.2e-11 |
PFAM |
|
VWC_def
|
401 |
469 |
1.2e-9 |
SMART |
|
VWD
|
428 |
591 |
2.4e-32 |
SMART |
|
C8
|
627 |
703 |
6.7e-25 |
SMART |
|
SCOP:d1coua_
|
706 |
769 |
5e-9 |
SMART |
|
Pfam:TIL
|
806 |
869 |
3.3e-6 |
PFAM |
|
VWC_def
|
871 |
941 |
4.1e-5 |
SMART |
|
VWD
|
898 |
1060 |
7.7e-33 |
SMART |
|
C8
|
1096 |
1170 |
4.2e-35 |
SMART |
|
Blast:CT
|
1184 |
1236 |
2e-19 |
BLAST |
|
low complexity region
|
1240 |
1269 |
N/A |
INTRINSIC |
|
low complexity region
|
1275 |
1293 |
N/A |
INTRINSIC |
|
low complexity region
|
1313 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1374 |
N/A |
INTRINSIC |
|
low complexity region
|
1406 |
1419 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1426 |
1822 |
3.44e-48 |
PROSPERO |
|
low complexity region
|
1826 |
1845 |
N/A |
INTRINSIC |
|
low complexity region
|
1932 |
1952 |
N/A |
INTRINSIC |
|
low complexity region
|
1961 |
1975 |
N/A |
INTRINSIC |
|
low complexity region
|
1977 |
2011 |
N/A |
INTRINSIC |
|
low complexity region
|
2055 |
2069 |
N/A |
INTRINSIC |
|
low complexity region
|
2075 |
2085 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2101 |
2501 |
3.44e-48 |
PROSPERO |
|
low complexity region
|
2504 |
2524 |
N/A |
INTRINSIC |
|
low complexity region
|
2584 |
2601 |
N/A |
INTRINSIC |
|
low complexity region
|
2629 |
2652 |
N/A |
INTRINSIC |
|
low complexity region
|
2670 |
2695 |
N/A |
INTRINSIC |
|
low complexity region
|
2707 |
2742 |
N/A |
INTRINSIC |
|
low complexity region
|
2794 |
2827 |
N/A |
INTRINSIC |
|
Blast:CT
|
2830 |
2917 |
1e-44 |
BLAST |
|
| Meta Mutation Damage Score |
0.8758 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,930,074 (GRCm39) |
V103A |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,104,499 (GRCm39) |
N729S |
probably benign |
Het |
| Atr |
T |
C |
9: 95,749,579 (GRCm39) |
I464T |
probably benign |
Het |
| Atrn |
T |
A |
2: 130,777,504 (GRCm39) |
H184Q |
probably damaging |
Het |
| Bmp5 |
A |
G |
9: 75,746,874 (GRCm39) |
D244G |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,320,167 (GRCm39) |
E882* |
probably null |
Het |
| Cfap58 |
T |
A |
19: 47,972,089 (GRCm39) |
V673E |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,706,130 (GRCm39) |
N1155S |
probably benign |
Het |
| Colgalt2 |
C |
A |
1: 152,378,823 (GRCm39) |
H416Q |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,561,404 (GRCm39) |
L230F |
probably benign |
Het |
| Dixdc1 |
G |
T |
9: 50,622,079 (GRCm39) |
S84* |
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,875,603 (GRCm39) |
D475G |
probably damaging |
Het |
| Egr2 |
T |
A |
10: 67,374,173 (GRCm39) |
N54K |
probably null |
Het |
| Grm3 |
T |
C |
5: 9,562,365 (GRCm39) |
D495G |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,266,797 (GRCm39) |
T1629I |
probably benign |
Het |
| Klf2 |
A |
T |
8: 73,073,373 (GRCm39) |
N59I |
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,377,284 (GRCm39) |
V436A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,615,680 (GRCm39) |
V838A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,620,069 (GRCm39) |
S786P |
probably damaging |
Het |
| Matk |
C |
G |
10: 81,097,859 (GRCm39) |
R315G |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,290,666 (GRCm39) |
V249A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,090,654 (GRCm39) |
R273G |
probably benign |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,446,189 (GRCm39) |
|
probably null |
Het |
| Pitpnm1 |
A |
T |
19: 4,155,135 (GRCm39) |
H321L |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,367,130 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,303 (GRCm39) |
D2197G |
possibly damaging |
Het |
| Rmdn2 |
C |
T |
17: 79,978,053 (GRCm39) |
T338M |
probably damaging |
Het |
| Rps10 |
A |
G |
17: 27,853,208 (GRCm39) |
S54P |
probably damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,422 (GRCm39) |
S89P |
probably benign |
Het |
| Sh3yl1 |
T |
C |
12: 30,992,072 (GRCm39) |
Y176H |
probably damaging |
Het |
| Sppl2c |
G |
T |
11: 104,077,532 (GRCm39) |
A111S |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,803,598 (GRCm39) |
E317G |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,076,324 (GRCm39) |
E425G |
probably damaging |
Het |
| Stxbp1 |
C |
T |
2: 32,707,293 (GRCm39) |
|
probably null |
Het |
| Traf6 |
G |
A |
2: 101,527,801 (GRCm39) |
R517Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,387 (GRCm39) |
V295A |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,941,091 (GRCm39) |
D383E |
possibly damaging |
Het |
| Zfp984 |
A |
G |
4: 147,839,796 (GRCm39) |
C352R |
probably damaging |
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 |
|
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 |
|
|
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'- TGTAGTCCACAGCAAGAAGTG -3'
(R):5'- ATGTCTGCACTGCCACCATG -3'
Sequencing Primer
(F):5'- GTGCAGAATATCTTCAAAGCAAAGC -3'
(R):5'- CATGACCACAACACTTAGTATCTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation