Incidental Mutation 'R5305:Ap1g2'
ID |
404527 |
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 |
042888-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R5305 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55336533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 787
(V787A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036041]
[ENSMUST00000050575]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000170285]
[ENSMUST00000151314]
[ENSMUST00000183822]
[ENSMUST00000185121]
|
AlphaFold |
O88512 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036041
AA Change: V787A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043996 Gene: ENSMUSG00000040701 AA Change: V787A
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: V787A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128427 Gene: ENSMUSG00000040701 AA Change: V787A
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: ENSMUST00000183993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153702
|
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
|
Meta Mutation Damage Score |
0.0676 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
99% (67/68) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
G |
A |
15: 81,943,420 (GRCm39) |
V11M |
possibly damaging |
Het |
Acot8 |
A |
G |
2: 164,637,685 (GRCm39) |
V179A |
probably benign |
Het |
Actb |
A |
G |
5: 142,889,985 (GRCm39) |
I194T |
probably benign |
Het |
Areg |
G |
T |
5: 91,292,308 (GRCm39) |
A203S |
probably damaging |
Het |
Asb13 |
A |
T |
13: 3,693,479 (GRCm39) |
D79V |
probably damaging |
Het |
Atad2b |
C |
T |
12: 5,015,855 (GRCm39) |
T527I |
probably damaging |
Het |
Auts2 |
T |
G |
5: 131,472,632 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
T |
A |
7: 16,885,501 (GRCm39) |
S35T |
probably damaging |
Het |
Crebzf |
T |
C |
7: 90,093,342 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
G |
T |
6: 18,381,097 (GRCm39) |
N1366K |
probably benign |
Het |
Cubn |
C |
A |
2: 13,393,750 (GRCm39) |
C1417F |
probably damaging |
Het |
Dot1l |
C |
T |
10: 80,626,627 (GRCm39) |
P162S |
probably benign |
Het |
Epc1 |
G |
A |
18: 6,490,690 (GRCm39) |
|
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,480,895 (GRCm39) |
S613G |
possibly damaging |
Het |
Erich6 |
T |
G |
3: 58,532,537 (GRCm39) |
I357L |
probably benign |
Het |
Foxj3 |
T |
A |
4: 119,477,155 (GRCm39) |
S288T |
possibly damaging |
Het |
Gls2 |
T |
G |
10: 128,040,578 (GRCm39) |
Y326* |
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm7535 |
T |
C |
17: 18,132,061 (GRCm39) |
|
probably benign |
Het |
Gxylt2 |
T |
G |
6: 100,764,179 (GRCm39) |
L288R |
probably damaging |
Het |
Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
Mgat4c |
T |
A |
10: 102,225,140 (GRCm39) |
F451L |
possibly damaging |
Het |
Mrpl20 |
G |
A |
4: 155,888,162 (GRCm39) |
R17H |
probably damaging |
Het |
Mtf2 |
A |
G |
5: 108,252,365 (GRCm39) |
T465A |
possibly damaging |
Het |
Mycbp2 |
A |
C |
14: 103,583,757 (GRCm39) |
L66R |
probably benign |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Nr2e1 |
A |
T |
10: 42,447,483 (GRCm39) |
Y176* |
probably null |
Het |
Obscn |
T |
C |
11: 58,903,541 (GRCm39) |
T7628A |
possibly damaging |
Het |
Or7a37 |
A |
T |
10: 78,806,390 (GRCm39) |
K302N |
possibly damaging |
Het |
Pitx2 |
T |
G |
3: 129,009,489 (GRCm39) |
V129G |
probably damaging |
Het |
Polr2e |
A |
G |
10: 79,873,897 (GRCm39) |
|
probably benign |
Het |
Ppard |
A |
G |
17: 28,517,832 (GRCm39) |
D300G |
probably damaging |
Het |
Ppp1r27 |
A |
G |
11: 120,441,743 (GRCm39) |
V46A |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,177,902 (GRCm39) |
V332E |
probably damaging |
Het |
Prss30 |
T |
G |
17: 24,191,750 (GRCm39) |
Y257S |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,900,863 (GRCm39) |
E1082G |
probably damaging |
Het |
Rab3c |
T |
A |
13: 110,317,611 (GRCm39) |
R89S |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,874,445 (GRCm39) |
V389A |
possibly damaging |
Het |
Rims1 |
T |
A |
1: 22,635,623 (GRCm39) |
R119S |
probably damaging |
Het |
Sema3b |
T |
C |
9: 107,480,536 (GRCm39) |
H137R |
probably null |
Het |
Sf3b4 |
G |
C |
3: 96,080,958 (GRCm39) |
A89P |
probably damaging |
Het |
Sgta |
T |
A |
10: 80,882,081 (GRCm39) |
Q298L |
probably damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
Sry |
T |
A |
Y: 2,662,982 (GRCm39) |
D226V |
unknown |
Het |
Sv2a |
A |
G |
3: 96,092,774 (GRCm39) |
E158G |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,031,071 (GRCm39) |
|
probably benign |
Het |
Thbs3 |
T |
A |
3: 89,125,283 (GRCm39) |
|
probably benign |
Het |
Top3a |
A |
T |
11: 60,653,365 (GRCm39) |
N56K |
possibly damaging |
Het |
Tyk2 |
T |
C |
9: 21,020,677 (GRCm39) |
D918G |
probably damaging |
Het |
Uqcrh |
A |
G |
4: 115,924,481 (GRCm39) |
|
probably benign |
Het |
Vmn1r61 |
A |
G |
7: 5,613,814 (GRCm39) |
S167P |
probably damaging |
Het |
Wdr25 |
C |
A |
12: 108,992,366 (GRCm39) |
H74N |
probably damaging |
Het |
Zfp458 |
T |
C |
13: 67,404,382 (GRCm39) |
N686D |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,780,515 (GRCm39) |
H512Q |
|
Het |
Zfp976 |
A |
T |
7: 42,262,902 (GRCm39) |
Y312N |
probably benign |
Het |
Zscan4c |
G |
A |
7: 10,743,462 (GRCm39) |
V354I |
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 |
|
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 |
|
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'- ACACCTTCGTTCCCTGAGAC -3'
(R):5'- AACCAGGTGAGTTGTCAGACG -3'
Sequencing Primer
(F):5'- CTTTATTAAAGGAACACCGGGTGAC -3'
(R):5'- AGTTGTCAGACGCTGCG -3'
|
Posted On |
2016-07-22 |