Incidental Mutation 'IGL02967:Ap1g2'
| ID |
365680 |
| 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 # |
IGL02967
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 55342479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022819]
[ENSMUST00000036041]
[ENSMUST00000124493]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000170285]
[ENSMUST00000151314]
|
| 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
|
| 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: 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: ENSMUST00000132992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133004
|
| 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 |
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: ENSMUST00000137548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153702
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,291 (GRCm39) |
T3455A |
probably damaging |
Het |
| Abca8a |
G |
A |
11: 109,941,762 (GRCm39) |
P1169L |
probably damaging |
Het |
| Ablim3 |
T |
A |
18: 61,959,574 (GRCm39) |
K272* |
probably null |
Het |
| Abtb3 |
A |
G |
10: 85,469,646 (GRCm39) |
T856A |
probably benign |
Het |
| Acin1 |
A |
G |
14: 54,880,210 (GRCm39) |
V574A |
possibly damaging |
Het |
| Acot4 |
A |
T |
12: 84,090,235 (GRCm39) |
I311L |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,026,164 (GRCm39) |
A1273V |
probably benign |
Het |
| Apob |
A |
T |
12: 8,065,366 (GRCm39) |
K4112* |
probably null |
Het |
| Aspdh |
A |
G |
7: 44,114,963 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
T |
C |
6: 136,583,725 (GRCm39) |
I1252T |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,367 (GRCm39) |
T220A |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,178,778 (GRCm39) |
F1856S |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,083,896 (GRCm39) |
N743I |
probably benign |
Het |
| Clvs2 |
T |
C |
10: 33,471,784 (GRCm39) |
K174E |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,893,222 (GRCm39) |
Q351L |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,672,919 (GRCm39) |
V550L |
possibly damaging |
Het |
| Edem1 |
T |
G |
6: 108,813,738 (GRCm39) |
S178A |
probably damaging |
Het |
| Fam222b |
C |
T |
11: 78,044,934 (GRCm39) |
A165V |
probably benign |
Het |
| Fer |
T |
C |
17: 64,203,262 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fggy |
T |
G |
4: 95,814,986 (GRCm39) |
F535C |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,222,627 (GRCm39) |
S1091T |
probably damaging |
Het |
| Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
| Fut7 |
G |
T |
2: 25,315,155 (GRCm39) |
V91L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,103,067 (GRCm39) |
C565S |
probably damaging |
Het |
| Gzmm |
C |
T |
10: 79,530,897 (GRCm39) |
T233I |
possibly damaging |
Het |
| Hps5 |
A |
T |
7: 46,418,804 (GRCm39) |
L789Q |
possibly damaging |
Het |
| Krt32 |
G |
A |
11: 99,974,876 (GRCm39) |
S357F |
possibly damaging |
Het |
| Lrig2 |
C |
T |
3: 104,401,512 (GRCm39) |
|
probably benign |
Het |
| Lrp8 |
C |
A |
4: 107,718,431 (GRCm39) |
Q678K |
probably benign |
Het |
| Mmp27 |
C |
A |
9: 7,571,591 (GRCm39) |
Q45K |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,099,896 (GRCm39) |
D602G |
possibly damaging |
Het |
| Ncoa1 |
G |
T |
12: 4,345,294 (GRCm39) |
H684Q |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,053,460 (GRCm39) |
D2041G |
probably damaging |
Het |
| Nrg3 |
G |
T |
14: 38,390,256 (GRCm39) |
|
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,276,085 (GRCm39) |
H46L |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,374,427 (GRCm39) |
Q1903K |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,913,554 (GRCm39) |
V616A |
probably damaging |
Het |
| Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,843,234 (GRCm39) |
F75Y |
probably damaging |
Het |
| Prelid1 |
G |
A |
13: 55,472,219 (GRCm39) |
V132I |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,201,740 (GRCm39) |
S227P |
probably damaging |
Het |
| Psmb5 |
G |
A |
14: 54,854,083 (GRCm39) |
R132C |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,668,602 (GRCm39) |
N360D |
probably damaging |
Het |
| Pygm |
G |
A |
19: 6,443,868 (GRCm39) |
V610M |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,384,349 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
| Slc25a4 |
A |
G |
8: 46,662,187 (GRCm39) |
L157P |
probably damaging |
Het |
| Sost |
T |
G |
11: 101,855,084 (GRCm39) |
E75A |
possibly damaging |
Het |
| Tdrd9 |
A |
G |
12: 111,958,922 (GRCm39) |
S119G |
possibly damaging |
Het |
| Tepsin |
A |
G |
11: 119,984,954 (GRCm39) |
I238T |
probably benign |
Het |
| Tfr2 |
T |
A |
5: 137,581,081 (GRCm39) |
L507* |
probably null |
Het |
| Tmem106a |
T |
C |
11: 101,477,121 (GRCm39) |
I110T |
possibly damaging |
Het |
| Tmem38a |
A |
T |
8: 73,339,926 (GRCm39) |
D298V |
possibly damaging |
Het |
| Tmprss12 |
A |
T |
15: 100,183,262 (GRCm39) |
R201S |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,238,759 (GRCm39) |
T271A |
possibly damaging |
Het |
| Virma |
T |
G |
4: 11,514,096 (GRCm39) |
V650G |
probably benign |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,162 (GRCm39) |
I178N |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,604,901 (GRCm39) |
S1276P |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,398 (GRCm39) |
Y29C |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation