Incidental Mutation 'R0614:Ap1g2'
ID |
54973 |
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 |
038803-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.371)
|
Stock # |
R0614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55337230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 702
(V702I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036041]
[ENSMUST00000050575]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000170285]
[ENSMUST00000185121]
[ENSMUST00000151314]
[ENSMUST00000183822]
|
AlphaFold |
O88512 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036041
AA Change: V702I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000043996 Gene: ENSMUSG00000040701 AA Change: V702I
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 |
probably benign
Transcript: ENSMUST00000170285
AA Change: V702I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000128427 Gene: ENSMUSG00000040701 AA Change: V702I
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: ENSMUST00000183993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185121
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
97% (61/63) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
T |
13: 77,340,782 (GRCm39) |
T137I |
probably benign |
Het |
3110082I17Rik |
C |
T |
5: 139,349,786 (GRCm39) |
V88I |
possibly damaging |
Het |
4930453N24Rik |
T |
A |
16: 64,586,977 (GRCm39) |
Q249L |
probably damaging |
Het |
Armcx5 |
G |
A |
X: 134,647,564 (GRCm39) |
E547K |
probably damaging |
Het |
Asah2 |
C |
A |
19: 31,994,128 (GRCm39) |
V406L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,666,658 (GRCm39) |
|
probably benign |
Het |
Axl |
C |
A |
7: 25,473,588 (GRCm39) |
R346L |
probably benign |
Het |
Baz1a |
G |
A |
12: 54,988,304 (GRCm39) |
R282* |
probably null |
Het |
Card14 |
A |
G |
11: 119,213,653 (GRCm39) |
N200S |
probably benign |
Het |
Cdt1 |
A |
G |
8: 123,294,876 (GRCm39) |
T28A |
probably benign |
Het |
Cep250 |
C |
T |
2: 155,812,017 (GRCm39) |
Q438* |
probably null |
Het |
Dapk1 |
C |
A |
13: 60,865,946 (GRCm39) |
P181Q |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,961,394 (GRCm39) |
|
probably benign |
Het |
Dph7 |
T |
C |
2: 24,858,968 (GRCm39) |
|
probably null |
Het |
Edc4 |
A |
T |
8: 106,616,028 (GRCm39) |
D801V |
possibly damaging |
Het |
Eif4g2 |
A |
G |
7: 110,676,430 (GRCm39) |
|
probably null |
Het |
Eml2 |
T |
C |
7: 18,936,516 (GRCm39) |
L531P |
probably damaging |
Het |
Ephb2 |
T |
C |
4: 136,400,676 (GRCm39) |
Y533C |
probably benign |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,807,877 (GRCm39) |
K1399E |
probably benign |
Het |
Hcls1 |
A |
G |
16: 36,782,987 (GRCm39) |
D446G |
probably damaging |
Het |
Hif1a |
T |
A |
12: 73,992,405 (GRCm39) |
N787K |
probably damaging |
Het |
Ints14 |
T |
C |
9: 64,871,715 (GRCm39) |
S18P |
probably benign |
Het |
Kalrn |
A |
T |
16: 33,814,040 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
A |
11: 115,741,093 (GRCm39) |
D502E |
probably damaging |
Het |
Lrwd1 |
A |
G |
5: 136,152,354 (GRCm39) |
V570A |
probably damaging |
Het |
Mga |
C |
G |
2: 119,794,947 (GRCm39) |
P2877R |
probably damaging |
Het |
Mvd |
T |
C |
8: 123,163,292 (GRCm39) |
I313V |
probably benign |
Het |
Myo15b |
C |
A |
11: 115,773,739 (GRCm39) |
P270T |
probably damaging |
Het |
Naip1 |
C |
A |
13: 100,580,708 (GRCm39) |
V180L |
probably benign |
Het |
Ofd1 |
T |
C |
X: 165,218,536 (GRCm39) |
|
probably benign |
Het |
Or1j19 |
T |
A |
2: 36,676,705 (GRCm39) |
L56H |
probably damaging |
Het |
Or4c125 |
T |
A |
2: 89,170,329 (GRCm39) |
I106F |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,929 (GRCm39) |
M59K |
possibly damaging |
Het |
Otogl |
G |
A |
10: 107,634,216 (GRCm39) |
P1420S |
probably benign |
Het |
Pakap |
C |
A |
4: 57,856,720 (GRCm39) |
A926E |
probably benign |
Het |
Pcnt |
C |
T |
10: 76,256,150 (GRCm39) |
V697M |
probably damaging |
Het |
Plekha7 |
A |
T |
7: 115,753,880 (GRCm39) |
Y702* |
probably null |
Het |
Plxnb3 |
A |
G |
X: 72,807,964 (GRCm39) |
|
probably benign |
Het |
Ptgis |
A |
G |
2: 167,048,802 (GRCm39) |
F405L |
probably damaging |
Het |
Ptprk |
C |
T |
10: 27,951,132 (GRCm39) |
P19L |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,654,040 (GRCm39) |
V530A |
possibly damaging |
Het |
Rasgrp4 |
A |
T |
7: 28,845,276 (GRCm39) |
Y299F |
probably damaging |
Het |
Slc39a11 |
T |
A |
11: 113,414,452 (GRCm39) |
|
probably null |
Het |
Slc6a15 |
T |
A |
10: 103,240,213 (GRCm39) |
L312* |
probably null |
Het |
Slf1 |
T |
A |
13: 77,197,233 (GRCm39) |
M794L |
probably benign |
Het |
Sntg2 |
G |
A |
12: 30,307,977 (GRCm39) |
T236I |
possibly damaging |
Het |
Stau1 |
T |
C |
2: 166,792,726 (GRCm39) |
Y413C |
probably damaging |
Het |
Syne2 |
T |
G |
12: 75,959,127 (GRCm39) |
|
probably null |
Het |
Tas2r104 |
A |
T |
6: 131,662,165 (GRCm39) |
N181K |
probably damaging |
Het |
Tmem81 |
G |
A |
1: 132,435,469 (GRCm39) |
V92I |
probably benign |
Het |
Trap1 |
A |
G |
16: 3,878,615 (GRCm39) |
|
probably benign |
Het |
Trip12 |
T |
C |
1: 84,735,482 (GRCm39) |
E905G |
probably damaging |
Het |
Usp2 |
C |
T |
9: 44,003,789 (GRCm39) |
R494* |
probably null |
Het |
Vps13a |
G |
T |
19: 16,630,058 (GRCm39) |
R2692S |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,675,171 (GRCm39) |
S2074P |
probably benign |
Het |
Zfhx3 |
C |
G |
8: 109,675,599 (GRCm39) |
Y2216* |
probably null |
Het |
Zfp423 |
A |
G |
8: 88,508,742 (GRCm39) |
F409S |
probably damaging |
Het |
Zfp472 |
G |
A |
17: 33,196,908 (GRCm39) |
E328K |
possibly damaging |
Het |
Zfp619 |
T |
A |
7: 39,187,099 (GRCm39) |
M1043K |
possibly damaging |
Het |
Zfp940 |
T |
C |
7: 29,545,671 (GRCm39) |
I79V |
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 |
R0284:Ap1g2
|
UTSW |
14 |
55,339,149 (GRCm39) |
splice site |
probably benign |
|
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'- AAATTCCCTGGCTACCTCTGAATGC -3'
(R):5'- CAGCCCAAGCCTTAGCTTGTCTAC -3'
Sequencing Primer
(F):5'- caaagtcactatgttaaggcagg -3'
(R):5'- TATCATTAGATCCGGGGCAGC -3'
|
Posted On |
2013-07-11 |