Incidental Mutation 'IGL03261:Ap1g2'
| ID |
414825 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ap1g2
|
| Ensembl Gene |
ENSMUSG00000040701 |
| Gene Name |
adaptor protein complex AP-1, gamma 2 subunit |
| Synonyms |
gamma 2-adaptin, Adtg2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.371)
|
| Stock # |
IGL03261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55337987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 634
(T634A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036041]
[ENSMUST00000050575]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000170285]
[ENSMUST00000151314]
[ENSMUST00000185121]
[ENSMUST00000183822]
|
| AlphaFold |
O88512 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036041
AA Change: T634A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: T634A
| 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: ENSMUST00000137548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170285
AA Change: T634A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: T634A
| 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: ENSMUST00000153326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183993
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000185121
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
G |
7: 27,279,863 (GRCm39) |
Y281* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 90,030,756 (GRCm39) |
|
probably benign |
Het |
| Afp |
T |
C |
5: 90,639,610 (GRCm39) |
|
probably null |
Het |
| Cidec |
A |
G |
6: 113,410,133 (GRCm39) |
V32A |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,140,982 (GRCm39) |
P315S |
possibly damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,067,849 (GRCm39) |
Y1784C |
probably damaging |
Het |
| Mmp21 |
A |
G |
7: 133,276,403 (GRCm39) |
V480A |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,697,247 (GRCm39) |
T471I |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,000,199 (GRCm39) |
V299A |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,697 (GRCm39) |
S73T |
possibly damaging |
Het |
| Or6c5 |
A |
G |
10: 129,074,272 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,225,552 (GRCm38) |
D505G |
probably damaging |
Het |
| Rag2 |
A |
G |
2: 101,460,608 (GRCm39) |
D306G |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,746,426 (GRCm39) |
S38T |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,746 (GRCm39) |
H408R |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Slx4ip |
A |
T |
2: 136,888,659 (GRCm39) |
R113S |
probably benign |
Het |
| Smyd5 |
T |
A |
6: 85,409,000 (GRCm39) |
M5K |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,842,789 (GRCm39) |
H587L |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
| Tex16 |
C |
A |
X: 111,028,552 (GRCm39) |
D350E |
possibly damaging |
Het |
| Tex38 |
T |
C |
4: 115,637,723 (GRCm39) |
K27E |
possibly damaging |
Het |
| Trdv4 |
T |
C |
14: 54,312,875 (GRCm39) |
L83P |
possibly damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Vmn1r120 |
A |
G |
7: 20,787,450 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,733 (GRCm39) |
D916G |
possibly damaging |
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 |
|
IGL03308:Ap1g2
|
APN |
14 |
55,342,333 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0284:Ap1g2
|
UTSW |
14 |
55,339,149 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation