Incidental Mutation 'R9060:Ap1g2'
| ID |
688944 |
| 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 |
068886-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R9060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55336292-55344050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55337887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 667
(P667L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036041]
[ENSMUST00000050575]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000151314]
[ENSMUST00000170285]
|
| AlphaFold |
O88512 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036041
AA Change: P667L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000043996
Gene: ENSMUSG00000040701
AA Change: P667L
| 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 |
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 |
probably benign
Transcript: ENSMUST00000170285
AA Change: P667L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000128427
Gene: ENSMUSG00000040701
AA Change: P667L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
C |
17: 13,145,293 (GRCm39) |
V295G |
|
Het |
| Agfg1 |
T |
C |
1: 82,872,254 (GRCm39) |
V529A |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,783,973 (GRCm39) |
S176T |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,052,619 (GRCm39) |
D377G |
unknown |
Het |
| Ccdc14 |
T |
C |
16: 34,517,486 (GRCm39) |
L104P |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,074,281 (GRCm39) |
I511T |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,687,165 (GRCm39) |
Y46H |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,186,302 (GRCm39) |
V799A |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,557,711 (GRCm39) |
V175A |
probably benign |
Het |
| Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,905,141 (GRCm39) |
C4058F |
probably damaging |
Het |
| Dnai4 |
A |
T |
4: 102,947,750 (GRCm39) |
D175E |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,543,790 (GRCm39) |
Y334N |
probably damaging |
Het |
| Enah |
C |
A |
1: 181,749,817 (GRCm39) |
A341S |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,311,364 (GRCm39) |
*396Q |
probably null |
Het |
| Epb41l1 |
T |
A |
2: 156,345,679 (GRCm39) |
Y227* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,218,977 (GRCm39) |
D765E |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,910,782 (GRCm39) |
N1740S |
possibly damaging |
Het |
| Fhip2a |
C |
T |
19: 57,361,450 (GRCm39) |
H125Y |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,737,710 (GRCm39) |
R222H |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,269,480 (GRCm39) |
D1105G |
probably damaging |
Het |
| Hoxa13 |
T |
A |
6: 52,236,897 (GRCm39) |
Y121F |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Jag1 |
T |
G |
2: 136,931,204 (GRCm39) |
T643P |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,309,514 (GRCm39) |
S404R |
probably benign |
Het |
| Micall2 |
A |
T |
5: 139,705,035 (GRCm39) |
S100T |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,271,735 (GRCm39) |
L419Q |
probably damaging |
Het |
| Ms4a13 |
A |
C |
19: 11,168,950 (GRCm39) |
I25S |
|
Het |
| Nnmt |
T |
C |
9: 48,503,367 (GRCm39) |
T220A |
probably benign |
Het |
| Nrg3 |
G |
A |
14: 38,734,052 (GRCm39) |
T278I |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,783,895 (GRCm39) |
W1146R |
probably damaging |
Het |
| Or13a28 |
T |
G |
7: 140,217,695 (GRCm39) |
L27R |
|
Het |
| Or5m10 |
T |
C |
2: 85,717,920 (GRCm39) |
Y259H |
probably benign |
Het |
| Pacsin3 |
T |
C |
2: 91,091,557 (GRCm39) |
F85L |
probably benign |
Het |
| Padi4 |
T |
A |
4: 140,477,953 (GRCm39) |
D465V |
probably damaging |
Het |
| Pakap |
A |
G |
4: 57,855,412 (GRCm39) |
E247G |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,726,599 (GRCm39) |
Y1819F |
unknown |
Het |
| Pitpnm1 |
C |
A |
19: 4,156,869 (GRCm39) |
T464N |
probably damaging |
Het |
| Rnf214 |
T |
C |
9: 45,809,772 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,616,677 (GRCm39) |
G310D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,581,688 (GRCm39) |
|
probably null |
Het |
| Slc47a2 |
T |
C |
11: 61,227,699 (GRCm39) |
I142V |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,260,852 (GRCm39) |
R626C |
probably benign |
Het |
| Spart |
T |
C |
3: 55,032,275 (GRCm39) |
S370P |
probably benign |
Het |
| Spata31e1 |
G |
A |
13: 49,940,087 (GRCm39) |
S541F |
probably damaging |
Het |
| Spmap2 |
G |
T |
10: 79,420,571 (GRCm39) |
L189I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,282,821 (GRCm39) |
M67K |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,839,489 (GRCm39) |
Y1534* |
probably null |
Het |
| Usp13 |
T |
C |
3: 32,965,812 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,134,585 (GRCm39) |
M1T |
probably null |
Het |
| Zc3h7a |
G |
A |
16: 10,969,047 (GRCm39) |
T438I |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,803 (GRCm39) |
V297A |
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 |
|
|
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 |
|
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'- TTTGGGGAGTTGAAGAGACC -3'
(R):5'- CCTGGGTAGAGAAGACTTATGTGG -3'
Sequencing Primer
(F):5'- CTGGAGTGGAAACAGGCCTG -3'
(R):5'- AGAGAAGACTTATGTGGGTGTTCAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation