Incidental Mutation 'R3413:Ap2a2'
| ID |
267808 |
| 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 |
040631-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
R3413 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
141142093-141212924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141178689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 105
(N105K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003038]
[ENSMUST00000201261]
|
| AlphaFold |
P17427 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003038
AA Change: N118K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000003038
Gene: ENSMUSG00000002957
AA Change: N118K
| 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: ENSMUST00000201261
AA Change: N105K
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144090
Gene: ENSMUSG00000002957
AA Change: N105K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
16 |
131 |
9.9e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201320
|
| Meta Mutation Damage Score |
0.2400 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (48/49) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,037,387 (GRCm39) |
|
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,012 (GRCm39) |
H535R |
probably damaging |
Het |
| Ccnb3 |
T |
A |
X: 6,874,040 (GRCm39) |
E846D |
probably benign |
Het |
| Cdca7 |
G |
A |
2: 72,315,631 (GRCm39) |
G365R |
probably damaging |
Het |
| Clvs2 |
T |
A |
10: 33,498,967 (GRCm39) |
|
probably benign |
Het |
| Coq10a |
A |
G |
10: 128,200,998 (GRCm39) |
V93A |
possibly damaging |
Het |
| Ddx42 |
A |
G |
11: 106,138,636 (GRCm39) |
T812A |
probably benign |
Het |
| Dnaaf6 |
T |
A |
X: 139,006,770 (GRCm39) |
N216K |
possibly damaging |
Het |
| Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
G |
16: 36,707,709 (GRCm39) |
K68E |
probably damaging |
Het |
| Got1l1 |
A |
G |
8: 27,689,864 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,451,026 (GRCm39) |
E451G |
probably damaging |
Het |
| Hs6st2 |
C |
T |
X: 50,770,332 (GRCm39) |
V50I |
possibly damaging |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Map1s |
A |
G |
8: 71,365,163 (GRCm39) |
N107D |
probably damaging |
Het |
| Mmel1 |
T |
A |
4: 154,974,043 (GRCm39) |
V361D |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,959,095 (GRCm39) |
D989G |
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,467,870 (GRCm39) |
H188Q |
possibly damaging |
Het |
| Nup210 |
G |
T |
6: 91,002,224 (GRCm39) |
Q755K |
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,587 (GRCm39) |
V219A |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,039 (GRCm39) |
M186V |
probably damaging |
Het |
| Plcz1 |
C |
T |
6: 139,947,807 (GRCm39) |
R525Q |
probably damaging |
Het |
| Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,457,631 (GRCm39) |
R3178C |
probably damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,656,682 (GRCm39) |
W486R |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,785,775 (GRCm39) |
D327G |
probably benign |
Het |
| Tbc1d8b |
C |
T |
X: 138,614,140 (GRCm39) |
A391V |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,743,387 (GRCm39) |
E173G |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Ubn2 |
A |
G |
6: 38,475,674 (GRCm39) |
T1211A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Zfp92 |
C |
T |
X: 72,463,900 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
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 |
|
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'- GTGCTGATCACTGGTACATGTC -3'
(R):5'- TCCCTCACTACACACAGTGG -3'
Sequencing Primer
(F):5'- ACTGGTACATGTCCGCGTC -3'
(R):5'- GAGTGTGTTTAGAAGAAGTGCATGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation