Incidental Mutation 'R6002:Ap2a1'
| ID |
478423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2a1
|
| Ensembl Gene |
ENSMUSG00000060279 |
| Gene Name |
adaptor-related protein complex 2, alpha 1 subunit |
| Synonyms |
Adtaa |
| MMRRC Submission |
044181-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
R6002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44549797-44578914 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3791 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 44553819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071207]
[ENSMUST00000085399]
[ENSMUST00000107857]
[ENSMUST00000166972]
[ENSMUST00000167930]
[ENSMUST00000209039]
[ENSMUST00000207485]
[ENSMUST00000208179]
[ENSMUST00000208600]
|
| AlphaFold |
P17426 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071207
|
| SMART Domains |
Protein: ENSMUSP00000071194
Gene: ENSMUSG00000011658
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
234 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085399
AA Change: S543P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082519
Gene: ENSMUSG00000060279
AA Change: S543P
| 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 |
probably damaging
Transcript: ENSMUST00000107857
AA Change: S543P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103489
Gene: ENSMUSG00000060279
AA Change: S543P
| 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 |
probably damaging
Transcript: ENSMUST00000166972
AA Change: S543P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127842
Gene: ENSMUSG00000060279
AA Change: S543P
| 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 |
probably damaging
Transcript: ENSMUST00000167930
AA Change: S543P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127497
Gene: ENSMUSG00000060279
AA Change: S543P
| 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 |
noncoding transcript
Transcript: ENSMUST00000207480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209067
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209039
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207833
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208291
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208600
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,768 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
| Amer2 |
G |
T |
14: 60,616,231 (GRCm39) |
G142V |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
| Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,938,349 (GRCm39) |
S39T |
possibly damaging |
Het |
| Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
| Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,210,750 (GRCm39) |
Y420* |
probably null |
Het |
| Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
| Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,811,121 (GRCm39) |
T321A |
possibly damaging |
Het |
| Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
| Or5b122 |
T |
C |
19: 13,562,781 (GRCm39) |
|
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
| Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
| Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,914,247 (GRCm39) |
I328L |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
| Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
| Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
| Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,746,032 (GRCm39) |
D469Y |
probably 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 |
|
|
R5517:Ap2a1
|
UTSW |
7 |
44,556,405 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5635:Ap2a1
|
UTSW |
7 |
44,573,325 (GRCm39) |
intron |
probably benign |
|
|
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'- GGCTCTAACCAGAACATCGG -3'
(R):5'- GGAGCCTCATTTTGGTGCTC -3'
Sequencing Primer
(F):5'- AGAACATCGGTGCTGGCTAC -3'
(R):5'- TCTTAGGGGCCTGGGGAAAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation