Incidental Mutation 'R0284:Ap1g2'
ID |
24632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ap1g2
|
Ensembl Gene |
ENSMUSG00000040701 |
Gene Name |
adaptor protein complex AP-1, gamma 2 subunit |
Synonyms |
gamma 2-adaptin, Adtg2 |
MMRRC Submission |
038505-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.371)
|
Stock # |
R0284 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 55339149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036041]
[ENSMUST00000050575]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000151314]
[ENSMUST00000170285]
[ENSMUST00000183822]
[ENSMUST00000185121]
|
AlphaFold |
O88512 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036041
|
SMART Domains |
Protein: ENSMUSP00000043996 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
575 |
2.7e-149 |
PFAM |
low complexity region
|
624 |
631 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
668 |
786 |
5.73e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050575
|
SMART Domains |
Protein: ENSMUSP00000056026 Gene: ENSMUSG00000045691
Domain | Start | End | E-Value | Type |
CYTH
|
5 |
200 |
1.29e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127870
|
SMART Domains |
Protein: ENSMUSP00000116698 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
197 |
5.7e-57 |
PFAM |
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131323
|
SMART Domains |
Protein: ENSMUSP00000115441 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
197 |
5.7e-57 |
PFAM |
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137548
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151314
|
SMART Domains |
Protein: ENSMUSP00000122796 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
197 |
5.7e-57 |
PFAM |
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170285
|
SMART Domains |
Protein: ENSMUSP00000128427 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
575 |
1.5e-149 |
PFAM |
low complexity region
|
624 |
631 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
668 |
786 |
5.73e-39 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144197
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183822
|
SMART Domains |
Protein: ENSMUSP00000140371 Gene: ENSMUSG00000045691
Domain | Start | End | E-Value | Type |
PDB:2JMU|A
|
5 |
64 |
3e-23 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185121
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.4%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
FUNCTION: This gene encodes the gamma-2 subunit of the adaptor protein complex 1 (AP-1). AP-1 complex is a heterotetramer comprised of two heavy and one each of medium and small subunits. The encoded protein is a heavy subunit of AP-1 complex that regulates polarized sorting of cargo at the trans-Golgi network and endosomes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh6 |
A |
G |
7: 30,013,413 (GRCm39) |
T161A |
probably benign |
Het |
Alox12e |
A |
G |
11: 70,211,725 (GRCm39) |
|
probably benign |
Het |
Arid2 |
A |
T |
15: 96,276,848 (GRCm39) |
|
probably benign |
Het |
Bmp2k |
A |
T |
5: 97,216,314 (GRCm39) |
H604L |
unknown |
Het |
Cacna1a |
A |
T |
8: 85,338,914 (GRCm39) |
M1705L |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,794,062 (GRCm39) |
D1526E |
probably damaging |
Het |
Ccdc171 |
A |
G |
4: 83,467,975 (GRCm39) |
R107G |
possibly damaging |
Het |
Cklf |
T |
C |
8: 104,988,207 (GRCm39) |
|
probably benign |
Het |
Crabp1 |
A |
G |
9: 54,672,210 (GRCm39) |
K9E |
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,793,423 (GRCm39) |
D386G |
probably damaging |
Het |
Cyp3a41b |
G |
A |
5: 145,515,014 (GRCm39) |
|
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,464,684 (GRCm39) |
V393E |
probably damaging |
Het |
Ednrb |
C |
T |
14: 104,057,449 (GRCm39) |
G371D |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 76,994,353 (GRCm39) |
|
probably benign |
Het |
Exoc2 |
A |
T |
13: 31,061,608 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
A |
18: 58,183,362 (GRCm39) |
|
probably benign |
Het |
Foxo6 |
T |
C |
4: 120,126,199 (GRCm39) |
S199G |
probably benign |
Het |
Fpr1 |
T |
A |
17: 18,097,618 (GRCm39) |
I124F |
probably damaging |
Het |
Gk5 |
A |
T |
9: 96,063,823 (GRCm39) |
|
probably null |
Het |
Gys1 |
A |
T |
7: 45,086,143 (GRCm39) |
|
probably benign |
Het |
Igfbp1 |
T |
C |
11: 7,148,103 (GRCm39) |
S49P |
probably damaging |
Het |
Incenp |
A |
T |
19: 9,871,357 (GRCm39) |
S91T |
unknown |
Het |
Itpkc |
G |
A |
7: 26,913,968 (GRCm39) |
R498* |
probably null |
Het |
Kat6a |
A |
G |
8: 23,429,819 (GRCm39) |
T1725A |
unknown |
Het |
Kiz |
T |
A |
2: 146,705,730 (GRCm39) |
C97S |
probably benign |
Het |
Kri1 |
A |
G |
9: 21,187,848 (GRCm39) |
|
probably benign |
Het |
Lipn |
A |
G |
19: 34,058,106 (GRCm39) |
S276G |
possibly damaging |
Het |
Llgl1 |
A |
G |
11: 60,602,967 (GRCm39) |
T881A |
probably damaging |
Het |
Man1a2 |
T |
C |
3: 100,592,102 (GRCm39) |
H26R |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,876,359 (GRCm39) |
F173I |
probably damaging |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mipol1 |
A |
G |
12: 57,503,855 (GRCm39) |
Q341R |
probably damaging |
Het |
Mllt6 |
G |
T |
11: 97,569,431 (GRCm39) |
A928S |
probably benign |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nipsnap3a |
C |
T |
4: 52,997,178 (GRCm39) |
T150I |
probably benign |
Het |
Nsl1 |
A |
G |
1: 190,797,427 (GRCm39) |
E97G |
probably damaging |
Het |
Or11j4 |
G |
A |
14: 50,630,452 (GRCm39) |
V80M |
probably damaging |
Het |
Or4f54 |
T |
C |
2: 111,122,931 (GRCm39) |
V106A |
probably benign |
Het |
Or7g18 |
A |
T |
9: 18,786,848 (GRCm39) |
Y72F |
probably benign |
Het |
Or8c11 |
G |
A |
9: 38,289,880 (GRCm39) |
M234I |
probably benign |
Het |
Pakap |
T |
C |
4: 57,855,207 (GRCm39) |
F220L |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,491,572 (GRCm39) |
L552S |
probably damaging |
Het |
Plekhf2 |
T |
C |
4: 10,990,595 (GRCm39) |
|
probably benign |
Het |
Prdm1 |
T |
C |
10: 44,332,622 (GRCm39) |
E96G |
probably damaging |
Het |
Prpf40a |
T |
A |
2: 53,040,659 (GRCm39) |
E608D |
probably damaging |
Het |
Prpf40b |
A |
T |
15: 99,214,274 (GRCm39) |
|
probably benign |
Het |
Rag2 |
T |
C |
2: 101,460,464 (GRCm39) |
V258A |
probably damaging |
Het |
S100a5 |
A |
G |
3: 90,518,881 (GRCm39) |
I68V |
probably benign |
Het |
Serpinb8 |
G |
A |
1: 107,530,648 (GRCm39) |
|
probably null |
Het |
Slc24a4 |
T |
C |
12: 102,226,740 (GRCm39) |
V492A |
probably damaging |
Het |
Spag6l |
T |
A |
16: 16,598,630 (GRCm39) |
Q287L |
probably damaging |
Het |
Spmip6 |
T |
G |
4: 41,507,538 (GRCm39) |
E150A |
probably damaging |
Het |
Synpo2 |
C |
T |
3: 122,873,383 (GRCm39) |
W211* |
probably null |
Het |
Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Trerf1 |
A |
G |
17: 47,630,471 (GRCm39) |
|
noncoding transcript |
Het |
Ttn |
G |
C |
2: 76,677,048 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,871,372 (GRCm39) |
M1900K |
probably benign |
Het |
Vps41 |
A |
T |
13: 19,037,610 (GRCm39) |
D691V |
probably damaging |
Het |
Zfp518b |
T |
C |
5: 38,829,083 (GRCm39) |
Y974C |
probably damaging |
Het |
Zscan29 |
A |
T |
2: 120,997,214 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ap1g2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01095:Ap1g2
|
APN |
14 |
55,342,571 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02421:Ap1g2
|
APN |
14 |
55,339,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02633:Ap1g2
|
APN |
14 |
55,338,104 (GRCm39) |
splice site |
probably null |
|
IGL02967:Ap1g2
|
APN |
14 |
55,342,479 (GRCm39) |
splice site |
probably benign |
|
IGL03030:Ap1g2
|
APN |
14 |
55,343,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03087:Ap1g2
|
APN |
14 |
55,340,493 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03261:Ap1g2
|
APN |
14 |
55,337,987 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03308:Ap1g2
|
APN |
14 |
55,342,333 (GRCm39) |
missense |
probably benign |
0.44 |
R0614:Ap1g2
|
UTSW |
14 |
55,337,230 (GRCm39) |
missense |
probably benign |
0.00 |
R0762:Ap1g2
|
UTSW |
14 |
55,337,868 (GRCm39) |
splice site |
probably benign |
|
R1561:Ap1g2
|
UTSW |
14 |
55,342,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Ap1g2
|
UTSW |
14 |
55,338,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Ap1g2
|
UTSW |
14 |
55,337,229 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1997:Ap1g2
|
UTSW |
14 |
55,339,835 (GRCm39) |
missense |
probably benign |
0.00 |
R2169:Ap1g2
|
UTSW |
14 |
55,336,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3157:Ap1g2
|
UTSW |
14 |
55,336,731 (GRCm39) |
missense |
probably damaging |
0.96 |
R3820:Ap1g2
|
UTSW |
14 |
55,338,030 (GRCm39) |
splice site |
probably benign |
|
R3850:Ap1g2
|
UTSW |
14 |
55,342,363 (GRCm39) |
missense |
probably benign |
0.03 |
R4750:Ap1g2
|
UTSW |
14 |
55,341,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Ap1g2
|
UTSW |
14 |
55,342,483 (GRCm39) |
critical splice donor site |
probably null |
|
R5305:Ap1g2
|
UTSW |
14 |
55,336,533 (GRCm39) |
missense |
probably benign |
|
R5880:Ap1g2
|
UTSW |
14 |
55,340,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Ap1g2
|
UTSW |
14 |
55,336,530 (GRCm39) |
missense |
probably benign |
|
R6964:Ap1g2
|
UTSW |
14 |
55,336,722 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7039:Ap1g2
|
UTSW |
14 |
55,340,111 (GRCm39) |
nonsense |
probably null |
|
R7180:Ap1g2
|
UTSW |
14 |
55,341,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R7563:Ap1g2
|
UTSW |
14 |
55,337,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R7818:Ap1g2
|
UTSW |
14 |
55,337,181 (GRCm39) |
missense |
probably benign |
0.44 |
R7854:Ap1g2
|
UTSW |
14 |
55,343,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R9060:Ap1g2
|
UTSW |
14 |
55,337,887 (GRCm39) |
missense |
probably benign |
0.00 |
R9171:Ap1g2
|
UTSW |
14 |
55,336,581 (GRCm39) |
missense |
probably benign |
0.05 |
R9276:Ap1g2
|
UTSW |
14 |
55,339,818 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGATGGACACCACCTGGCGAATAC -3'
(R):5'- GCTAAGATGGAGCCTGCTACCAAAC -3'
Sequencing Primer
(F):5'- GAGACCCCTGATATATGTGGCTC -3'
(R):5'- GGAGCCTGCTACCAAACTTAAATTTC -3'
|
Posted On |
2013-04-16 |