Incidental Mutation 'R1505:Ap2m1'
| ID |
169138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap2m1
|
| Ensembl Gene |
ENSMUSG00000022841 |
| Gene Name |
adaptor-related protein complex 2, mu 1 subunit |
| Synonyms |
clathrin-associated AP-2 |
| MMRRC Submission |
040868-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1505 (G1)
|
| Quality Score |
178 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
20354230-20363659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 20361447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Alanine
at position 372
(P372A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007216]
[ENSMUST00000090023]
[ENSMUST00000126788]
[ENSMUST00000232001]
|
| AlphaFold |
P84091 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007216
AA Change: P374A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007216
Gene: ENSMUSG00000022841
AA Change: P374A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
137 |
6.7e-8 |
PFAM |
|
Pfam:Adap_comp_sub
|
159 |
435 |
3.2e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090023
AA Change: P372A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087477
Gene: ENSMUSG00000022841
AA Change: P372A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clat_adaptor_s
|
1 |
137 |
4.2e-8 |
PFAM |
|
Pfam:Adap_comp_sub
|
157 |
433 |
8.7e-87 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119553
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231978
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the mu subunit of the clathrin adaptor protein complex AP-2. It mediates sorting of cargo proteins harboring Y-X-X-Phi motifs into clathrin-coated vesicles. Alternate splicing of this gene results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2, 8 and 19. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted deletion display embryonic lethality before implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
| Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
| Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
| Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
| Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
| Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
| Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
| Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
| Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
| Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
| Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
| Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
| Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
| Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
| Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
| Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
| Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
|
| Other mutations in Ap2m1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01718:Ap2m1
|
APN |
16 |
20,360,944 (GRCm39) |
unclassified |
probably benign |
|
|
R0110:Ap2m1
|
UTSW |
16 |
20,360,990 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0390:Ap2m1
|
UTSW |
16 |
20,359,849 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0450:Ap2m1
|
UTSW |
16 |
20,360,990 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0510:Ap2m1
|
UTSW |
16 |
20,360,990 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1386:Ap2m1
|
UTSW |
16 |
20,359,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Ap2m1
|
UTSW |
16 |
20,358,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1729:Ap2m1
|
UTSW |
16 |
20,358,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4433:Ap2m1
|
UTSW |
16 |
20,362,134 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5773:Ap2m1
|
UTSW |
16 |
20,362,140 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6953:Ap2m1
|
UTSW |
16 |
20,361,468 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7226:Ap2m1
|
UTSW |
16 |
20,358,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7266:Ap2m1
|
UTSW |
16 |
20,362,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7735:Ap2m1
|
UTSW |
16 |
20,358,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9571:Ap2m1
|
UTSW |
16 |
20,360,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Ap2m1
|
UTSW |
16 |
20,358,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAAGCGTACAGTCTGGGTGAGG -3'
(R):5'- TCAGGACACATCTGAAGCTGAGCC -3'
Sequencing Primer
(F):5'- TCTGGGTGAGGGAGAAACTG -3'
(R):5'- AATCCTTAGGTTGCCAGAGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation