Incidental Mutation 'IGL02421:Ap1g2'
ID |
292664 |
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 # |
IGL02421
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 55339859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 440
(A440V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022819]
[ENSMUST00000036041]
[ENSMUST00000050575]
[ENSMUST00000124493]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000170285]
[ENSMUST00000151314]
[ENSMUST00000183822]
[ENSMUST00000185121]
|
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 damaging
Transcript: ENSMUST00000036041
AA Change: A440V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000043996 Gene: ENSMUSG00000040701 AA Change: A440V
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: 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
|
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 |
probably damaging
Transcript: ENSMUST00000170285
AA Change: A440V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128427 Gene: ENSMUSG00000040701 AA Change: A440V
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: ENSMUST00000137548
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144197
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139536
|
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: 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
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
C |
2: 154,892,672 (GRCm39) |
F117S |
probably damaging |
Het |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Acacb |
A |
G |
5: 114,361,939 (GRCm39) |
T1394A |
probably benign |
Het |
Adam19 |
A |
G |
11: 46,028,380 (GRCm39) |
N671S |
probably damaging |
Het |
Akap13 |
A |
T |
7: 75,367,554 (GRCm39) |
N1815I |
possibly damaging |
Het |
Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
Bmt2 |
G |
T |
6: 13,628,841 (GRCm39) |
Q281K |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,717,662 (GRCm39) |
F2243L |
probably damaging |
Het |
Cenpb |
G |
A |
2: 131,021,601 (GRCm39) |
R66C |
probably damaging |
Het |
Chl1 |
A |
T |
6: 103,694,541 (GRCm39) |
H1121L |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,306,148 (GRCm39) |
Y344C |
probably damaging |
Het |
Cspg5 |
T |
A |
9: 110,076,460 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,150,637 (GRCm39) |
N374D |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,550,215 (GRCm39) |
V3368A |
possibly damaging |
Het |
Eml4 |
T |
C |
17: 83,785,321 (GRCm39) |
S829P |
probably benign |
Het |
Got2-ps1 |
T |
C |
5: 138,362,811 (GRCm39) |
|
noncoding transcript |
Het |
Hal |
T |
C |
10: 93,339,335 (GRCm39) |
C475R |
probably damaging |
Het |
Mapkbp1 |
C |
T |
2: 119,850,136 (GRCm39) |
P806S |
possibly damaging |
Het |
Mmrn1 |
A |
T |
6: 60,921,806 (GRCm39) |
T88S |
probably benign |
Het |
Napsa |
A |
G |
7: 44,234,479 (GRCm39) |
H237R |
probably damaging |
Het |
Opn5 |
C |
T |
17: 42,907,446 (GRCm39) |
|
probably benign |
Het |
Or1d2 |
T |
C |
11: 74,256,017 (GRCm39) |
I174T |
probably damaging |
Het |
Or4c110 |
T |
C |
2: 88,831,688 (GRCm39) |
|
probably null |
Het |
Or51f2 |
T |
C |
7: 102,526,966 (GRCm39) |
I213T |
probably damaging |
Het |
Or56b2 |
A |
G |
7: 104,337,740 (GRCm39) |
N173D |
probably benign |
Het |
Pira12 |
T |
C |
7: 3,899,994 (GRCm39) |
N203D |
possibly damaging |
Het |
Polb |
C |
T |
8: 23,130,389 (GRCm39) |
G179D |
probably damaging |
Het |
Primpol |
G |
T |
8: 47,060,830 (GRCm39) |
|
probably benign |
Het |
Prom2 |
T |
A |
2: 127,373,802 (GRCm39) |
|
probably null |
Het |
Psmb10 |
A |
G |
8: 106,664,124 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
T |
G |
10: 58,316,376 (GRCm39) |
S2365R |
probably damaging |
Het |
Sgce |
G |
A |
6: 4,694,187 (GRCm39) |
|
probably benign |
Het |
Slc25a34 |
A |
G |
4: 141,348,753 (GRCm39) |
V237A |
probably benign |
Het |
Slc39a2 |
A |
T |
14: 52,131,329 (GRCm39) |
T25S |
probably benign |
Het |
Smarca4 |
T |
C |
9: 21,550,535 (GRCm39) |
C423R |
probably damaging |
Het |
Stt3b |
G |
A |
9: 115,080,920 (GRCm39) |
|
probably benign |
Het |
Tbl1xr1 |
A |
T |
3: 22,257,327 (GRCm39) |
I397F |
probably damaging |
Het |
Tie1 |
A |
G |
4: 118,343,591 (GRCm39) |
V117A |
probably damaging |
Het |
Tmc3 |
T |
C |
7: 83,271,952 (GRCm39) |
F1035L |
probably benign |
Het |
Trhde |
T |
A |
10: 114,248,366 (GRCm39) |
K944N |
probably damaging |
Het |
Vmn1r54 |
G |
A |
6: 90,246,133 (GRCm39) |
A16T |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,415,414 (GRCm39) |
N801K |
probably damaging |
Het |
Xylt2 |
A |
G |
11: 94,558,588 (GRCm39) |
Y523H |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,902,000 (GRCm39) |
R5G |
probably 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 |
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 |
2015-04-16 |