Incidental Mutation 'IGL01095:Ap1g2'
ID |
52674 |
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 # |
IGL01095
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55342571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 129
(T129A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022819]
[ENSMUST00000036041]
[ENSMUST00000124493]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000151314]
[ENSMUST00000170285]
|
AlphaFold |
O88512 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022819
|
SMART Domains |
Protein: ENSMUSP00000022819 Gene: ENSMUSG00000022208
Domain | Start | End | E-Value | Type |
MORN
|
13 |
34 |
1.63e0 |
SMART |
MORN
|
59 |
80 |
1.62e-1 |
SMART |
MORN
|
104 |
125 |
4.76e-2 |
SMART |
MORN
|
127 |
148 |
5.26e-4 |
SMART |
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
low complexity region
|
216 |
246 |
N/A |
INTRINSIC |
MORN
|
280 |
301 |
1.37e-2 |
SMART |
MORN
|
303 |
324 |
3.29e-5 |
SMART |
low complexity region
|
367 |
406 |
N/A |
INTRINSIC |
low complexity region
|
453 |
467 |
N/A |
INTRINSIC |
low complexity region
|
528 |
553 |
N/A |
INTRINSIC |
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036041
AA Change: T129A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000043996 Gene: ENSMUSG00000040701 AA Change: T129A
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: ENSMUST00000124493
|
SMART Domains |
Protein: ENSMUSP00000121893 Gene: ENSMUSG00000022208
Domain | Start | End | E-Value | Type |
MORN
|
13 |
34 |
1.63e0 |
SMART |
MORN
|
59 |
80 |
1.62e-1 |
SMART |
MORN
|
104 |
125 |
4.76e-2 |
SMART |
MORN
|
127 |
148 |
5.26e-4 |
SMART |
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
low complexity region
|
216 |
246 |
N/A |
INTRINSIC |
MORN
|
280 |
301 |
1.37e-2 |
SMART |
MORN
|
303 |
324 |
3.29e-5 |
SMART |
low complexity region
|
367 |
406 |
N/A |
INTRINSIC |
low complexity region
|
453 |
467 |
N/A |
INTRINSIC |
low complexity region
|
528 |
553 |
N/A |
INTRINSIC |
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127870
AA Change: T129A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116698 Gene: ENSMUSG00000040701 AA Change: T129A
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
AA Change: T129A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115441 Gene: ENSMUSG00000040701 AA Change: T129A
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: ENSMUST00000132992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133004
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151314
AA Change: T129A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122796 Gene: ENSMUSG00000040701 AA Change: T129A
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
AA Change: T129A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000128427 Gene: ENSMUSG00000040701 AA Change: T129A
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: ENSMUST00000137481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144197
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137548
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
Adgra1 |
A |
G |
7: 139,425,570 (GRCm39) |
T28A |
possibly damaging |
Het |
Aldh8a1 |
A |
G |
10: 21,265,180 (GRCm39) |
E269G |
probably benign |
Het |
Alkbh7 |
A |
G |
17: 57,304,470 (GRCm39) |
|
probably null |
Het |
Ap1s1 |
A |
G |
5: 137,070,663 (GRCm39) |
I117T |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,415,195 (GRCm39) |
P119S |
possibly damaging |
Het |
Chid1 |
A |
G |
7: 141,110,142 (GRCm39) |
V62A |
probably damaging |
Het |
Cpa1 |
A |
T |
6: 30,642,968 (GRCm39) |
I299F |
probably benign |
Het |
Cuzd1 |
A |
G |
7: 130,917,865 (GRCm39) |
V245A |
probably damaging |
Het |
Ddx39b |
T |
C |
17: 35,465,937 (GRCm39) |
S71P |
probably benign |
Het |
Ddx42 |
A |
G |
11: 106,138,325 (GRCm39) |
Y708C |
probably damaging |
Het |
Dnah3 |
C |
A |
7: 119,550,820 (GRCm39) |
L3166F |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,816,213 (GRCm39) |
E114G |
probably benign |
Het |
Fap |
G |
A |
2: 62,354,545 (GRCm39) |
T448I |
possibly damaging |
Het |
Fhl2 |
A |
T |
1: 43,170,841 (GRCm39) |
Y158N |
probably benign |
Het |
Fscb |
A |
G |
12: 64,520,155 (GRCm39) |
V437A |
possibly damaging |
Het |
Il18 |
A |
T |
9: 50,490,629 (GRCm39) |
D88V |
probably damaging |
Het |
Il5ra |
A |
T |
6: 106,719,605 (GRCm39) |
|
probably benign |
Het |
Jakmip3 |
A |
T |
7: 138,622,546 (GRCm39) |
Q302L |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,322,776 (GRCm39) |
Y1857* |
probably null |
Het |
Meis2 |
T |
C |
2: 115,694,905 (GRCm39) |
T406A |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,721,120 (GRCm39) |
S346R |
probably benign |
Het |
Myh15 |
A |
T |
16: 48,952,378 (GRCm39) |
K816M |
probably damaging |
Het |
Mysm1 |
C |
T |
4: 94,856,106 (GRCm39) |
|
probably null |
Het |
Nyap1 |
C |
A |
5: 137,736,346 (GRCm39) |
R47L |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,910,954 (GRCm39) |
Y209H |
probably damaging |
Het |
Or2v2 |
T |
G |
11: 49,003,680 (GRCm39) |
Y291S |
probably damaging |
Het |
Or4g16 |
A |
G |
2: 111,136,966 (GRCm39) |
R139G |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,498 (GRCm39) |
D167G |
probably benign |
Het |
Or8b42 |
A |
G |
9: 38,341,811 (GRCm39) |
I78V |
probably benign |
Het |
Or8d6 |
T |
C |
9: 39,853,976 (GRCm39) |
V140A |
probably benign |
Het |
Pde4b |
T |
C |
4: 102,363,241 (GRCm39) |
|
probably null |
Het |
Psd3 |
G |
A |
8: 68,361,165 (GRCm39) |
T99M |
probably damaging |
Het |
R3hcc1 |
T |
C |
14: 69,937,477 (GRCm39) |
E390G |
probably damaging |
Het |
Rabgap1l |
A |
C |
1: 160,566,539 (GRCm39) |
C58W |
probably benign |
Het |
Rasd1 |
A |
G |
11: 59,855,117 (GRCm39) |
I121T |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,041,051 (GRCm39) |
N1284D |
probably benign |
Het |
Tpr |
T |
C |
1: 150,285,891 (GRCm39) |
V525A |
possibly damaging |
Het |
|
Other mutations in Ap1g2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |