Incidental Mutation 'R5517:Ap2a1'
| ID |
431346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2a1
|
| Ensembl Gene |
ENSMUSG00000060279 |
| Gene Name |
adaptor-related protein complex 2, alpha 1 subunit |
| Synonyms |
Adtaa |
| MMRRC Submission |
043076-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.400)
|
| Stock # |
R5517 (G1)
|
| Quality Score |
140 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44549797-44578914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44556405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 273
(D273G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085399]
[ENSMUST00000107857]
[ENSMUST00000166972]
[ENSMUST00000167930]
|
| AlphaFold |
P17426 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085399
AA Change: D273G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: D273G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
591 |
7.5e-150 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
741 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
745 |
858 |
4.49e-23 |
SMART |
|
Pfam:Alpha_adaptin_C
|
864 |
972 |
9.4e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107857
AA Change: D273G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: D273G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
591 |
7e-150 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
723 |
836 |
4.49e-23 |
SMART |
|
Pfam:Alpha_adaptin_C
|
842 |
950 |
9.1e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166972
AA Change: D273G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: D273G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
591 |
2e-149 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
741 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
745 |
858 |
4.49e-23 |
SMART |
|
Pfam:Alpha_adaptin_C
|
864 |
972 |
5.4e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167930
AA Change: D273G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: D273G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
29 |
591 |
7e-150 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
723 |
836 |
4.49e-23 |
SMART |
|
Pfam:Alpha_adaptin_C
|
842 |
950 |
9.1e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208472
|
| Meta Mutation Damage Score |
0.6716 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.5%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Aire |
A |
T |
10: 77,875,525 (GRCm39) |
S282T |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,216,887 (GRCm39) |
E283G |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,051,665 (GRCm39) |
D1477E |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,040,906 (GRCm39) |
L664P |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,414 (GRCm39) |
F550L |
probably damaging |
Het |
| Armc2 |
T |
C |
10: 41,839,846 (GRCm39) |
E373G |
probably benign |
Het |
| Atp8b2 |
C |
A |
3: 89,853,338 (GRCm39) |
A726S |
probably benign |
Het |
| C030048H21Rik |
T |
A |
2: 26,145,899 (GRCm39) |
Q87L |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,542 (GRCm39) |
|
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,957,326 (GRCm39) |
|
probably null |
Het |
| Cenpe |
C |
A |
3: 134,929,026 (GRCm39) |
P310Q |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,972 (GRCm39) |
|
probably null |
Het |
| Crebl2 |
T |
C |
6: 134,828,139 (GRCm39) |
S104P |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,726 (GRCm39) |
K239E |
probably benign |
Het |
| Defb5 |
A |
G |
8: 19,300,868 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,676,832 (GRCm39) |
M422K |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gatm |
G |
A |
2: 122,426,024 (GRCm39) |
T409I |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,950,332 (GRCm39) |
D80E |
probably damaging |
Het |
| Gspt1 |
C |
A |
16: 11,071,843 (GRCm39) |
G7C |
unknown |
Het |
| Hells |
G |
A |
19: 38,943,244 (GRCm39) |
S516N |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,738,542 (GRCm39) |
S2069P |
possibly damaging |
Het |
| Kank4 |
G |
A |
4: 98,663,118 (GRCm39) |
T690M |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,573,006 (GRCm39) |
N265S |
possibly damaging |
Het |
| Kif5b |
C |
A |
18: 6,220,954 (GRCm39) |
A385S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,415 (GRCm39) |
S1102P |
probably benign |
Het |
| Mcm7 |
A |
G |
5: 138,163,133 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,144,876 (GRCm39) |
R246H |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,610,226 (GRCm39) |
M1189K |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,783,892 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4k52 |
G |
T |
2: 111,610,804 (GRCm39) |
M46I |
probably benign |
Het |
| Or7g29 |
G |
A |
9: 19,287,063 (GRCm39) |
T38I |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,923,995 (GRCm39) |
N1118S |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,987 (GRCm39) |
Y439H |
probably damaging |
Het |
| Pcdhb7 |
G |
T |
18: 37,474,846 (GRCm39) |
|
probably benign |
Het |
| Picalm |
C |
T |
7: 89,819,806 (GRCm39) |
T189I |
possibly damaging |
Het |
| Ptx4 |
T |
A |
17: 25,343,760 (GRCm39) |
S337T |
possibly damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,508,313 (GRCm39) |
S745L |
probably benign |
Het |
| Rspry1 |
G |
A |
8: 95,363,388 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
G |
9: 119,324,779 (GRCm39) |
I1350L |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,839,755 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,056,575 (GRCm39) |
|
probably benign |
Het |
| Slc6a12 |
A |
G |
6: 121,331,298 (GRCm39) |
N183S |
probably benign |
Het |
| Smg9 |
C |
A |
7: 24,114,338 (GRCm39) |
|
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,008,195 (GRCm39) |
S367N |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,122,646 (GRCm39) |
V21A |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,816,627 (GRCm39) |
I56F |
possibly damaging |
Het |
| Taf1a |
T |
G |
1: 183,177,323 (GRCm39) |
L67R |
probably damaging |
Het |
| Tbc1d10b |
C |
A |
7: 126,797,779 (GRCm39) |
R787S |
possibly damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,313 (GRCm39) |
N1044K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,232,871 (GRCm39) |
T886A |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,027,676 (GRCm39) |
D472G |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,061,943 (GRCm39) |
N286S |
possibly damaging |
Het |
|
| Other mutations in Ap2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Ap2a1
|
APN |
7 |
44,555,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01315:Ap2a1
|
APN |
7 |
44,565,713 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01324:Ap2a1
|
APN |
7 |
44,555,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02545:Ap2a1
|
APN |
7 |
44,555,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03067:Ap2a1
|
APN |
7 |
44,552,935 (GRCm39) |
missense |
probably benign |
|
|
IGL03172:Ap2a1
|
APN |
7 |
44,553,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
disaffected
|
UTSW |
7 |
44,565,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Ap2a1
|
UTSW |
7 |
44,565,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Ap2a1
|
UTSW |
7 |
44,565,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Ap2a1
|
UTSW |
7 |
44,554,132 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1103:Ap2a1
|
UTSW |
7 |
44,553,593 (GRCm39) |
unclassified |
probably benign |
|
|
R1566:Ap2a1
|
UTSW |
7 |
44,552,904 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1682:Ap2a1
|
UTSW |
7 |
44,565,362 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1745:Ap2a1
|
UTSW |
7 |
44,556,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Ap2a1
|
UTSW |
7 |
44,553,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Ap2a1
|
UTSW |
7 |
44,553,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Ap2a1
|
UTSW |
7 |
44,552,343 (GRCm39) |
unclassified |
probably benign |
|
|
R4776:Ap2a1
|
UTSW |
7 |
44,550,970 (GRCm39) |
unclassified |
probably benign |
|
|
R4909:Ap2a1
|
UTSW |
7 |
44,555,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Ap2a1
|
UTSW |
7 |
44,555,228 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5278:Ap2a1
|
UTSW |
7 |
44,552,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5310:Ap2a1
|
UTSW |
7 |
44,555,489 (GRCm39) |
splice site |
probably null |
|
|
R5635:Ap2a1
|
UTSW |
7 |
44,573,325 (GRCm39) |
intron |
probably benign |
|
|
R6002:Ap2a1
|
UTSW |
7 |
44,553,819 (GRCm39) |
splice site |
probably null |
|
|
R6083:Ap2a1
|
UTSW |
7 |
44,557,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Ap2a1
|
UTSW |
7 |
44,565,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6430:Ap2a1
|
UTSW |
7 |
44,553,253 (GRCm39) |
missense |
probably benign |
|
|
R6491:Ap2a1
|
UTSW |
7 |
44,565,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Ap2a1
|
UTSW |
7 |
44,550,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Ap2a1
|
UTSW |
7 |
44,573,228 (GRCm39) |
splice site |
probably null |
|
|
R7490:Ap2a1
|
UTSW |
7 |
44,552,213 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7765:Ap2a1
|
UTSW |
7 |
44,559,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Ap2a1
|
UTSW |
7 |
44,550,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Ap2a1
|
UTSW |
7 |
44,550,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Ap2a1
|
UTSW |
7 |
44,554,135 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8540:Ap2a1
|
UTSW |
7 |
44,553,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCCCCAGGTGTTAGATG -3'
(R):5'- GGAGCCCAGACCTAGAAATTG -3'
Sequencing Primer
(F):5'- AGGTGTTAGATGCCAGCCTC -3'
(R):5'- GCCCAGACCTAGAAATTGCTGATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation