Incidental Mutation 'IGL02745:Gga2'
| ID |
306105 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gga2
|
| Ensembl Gene |
ENSMUSG00000030872 |
| Gene Name |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
| Synonyms |
1200007E24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02745
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
121585945-121620421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121607592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 108
(R108S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033160]
[ENSMUST00000124566]
|
| AlphaFold |
Q6P5E6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033160
AA Change: R108S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872
AA Change: R108S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
VHS
|
29 |
162 |
2.45e-58 |
SMART |
|
Pfam:GAT
|
241 |
318 |
2.2e-20 |
PFAM |
|
low complexity region
|
320 |
338 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
471 |
595 |
8.68e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124566
AA Change: R108S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872
AA Change: R108S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
VHS
|
29 |
162 |
2.45e-58 |
SMART |
|
Pfam:GAT
|
225 |
326 |
1.3e-30 |
PFAM |
|
Alpha_adaptinC2
|
471 |
595 |
8.68e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145277
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,282 (GRCm39) |
E167G |
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,614,028 (GRCm39) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,805,950 (GRCm39) |
H152R |
probably damaging |
Het |
| Bpifb4 |
T |
A |
2: 153,789,141 (GRCm39) |
L316Q |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,987,256 (GRCm39) |
L155I |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,670,170 (GRCm39) |
C98S |
probably damaging |
Het |
| Clnk |
A |
G |
5: 38,893,662 (GRCm39) |
S232P |
probably benign |
Het |
| Csf3 |
A |
G |
11: 98,593,303 (GRCm39) |
D140G |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,234,189 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
C |
16: 22,756,676 (GRCm39) |
V259A |
probably damaging |
Het |
| Hip1r |
C |
A |
5: 124,129,002 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
A |
G |
13: 64,234,990 (GRCm39) |
F62L |
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Man1a |
C |
T |
10: 53,853,206 (GRCm39) |
R304Q |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,176,642 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
T |
C |
7: 47,848,106 (GRCm39) |
Y274C |
probably damaging |
Het |
| Myh8 |
C |
T |
11: 67,188,327 (GRCm39) |
T996I |
possibly damaging |
Het |
| Niban3 |
G |
T |
8: 72,057,682 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
T |
A |
7: 23,020,716 (GRCm39) |
L401Q |
probably damaging |
Het |
| Oas1h |
G |
A |
5: 120,999,542 (GRCm39) |
R9Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,232 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or4d10b |
C |
T |
19: 12,036,565 (GRCm39) |
V184I |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,609,494 (GRCm39) |
H56R |
probably damaging |
Het |
| Otor |
A |
G |
2: 142,923,076 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,340 (GRCm39) |
Q325L |
probably damaging |
Het |
| Ppfibp1 |
T |
C |
6: 146,923,852 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,677,294 (GRCm39) |
L95Q |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,328,680 (GRCm39) |
I385N |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,662,002 (GRCm39) |
V418A |
probably damaging |
Het |
| Rdh1 |
A |
T |
10: 127,601,288 (GRCm39) |
T279S |
probably benign |
Het |
| Slc17a3 |
C |
A |
13: 24,026,469 (GRCm39) |
Q13K |
probably benign |
Het |
| Slc22a20 |
T |
C |
19: 6,022,901 (GRCm39) |
N414S |
probably damaging |
Het |
| Slc4a1 |
C |
A |
11: 102,247,093 (GRCm39) |
C498F |
probably damaging |
Het |
| Sp8 |
G |
A |
12: 118,813,326 (GRCm39) |
G394S |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,346,233 (GRCm39) |
T1406I |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,059,321 (GRCm39) |
D561E |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,007,016 (GRCm39) |
Q726* |
probably null |
Het |
| Synpo2 |
G |
A |
3: 122,907,261 (GRCm39) |
T685I |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,140 (GRCm39) |
S556T |
probably benign |
Het |
| Ttc27 |
A |
G |
17: 75,046,728 (GRCm39) |
D263G |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,594,332 (GRCm39) |
P18793S |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,512 (GRCm39) |
V615A |
probably damaging |
Het |
| Vmn2r76 |
T |
G |
7: 85,879,495 (GRCm39) |
K268N |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,884,487 (GRCm39) |
|
probably benign |
Het |
| Zfp286 |
C |
A |
11: 62,671,700 (GRCm39) |
K124N |
probably damaging |
Het |
|
| Other mutations in Gga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01519:Gga2
|
APN |
7 |
121,601,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Gga2
|
APN |
7 |
121,589,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01584:Gga2
|
APN |
7 |
121,590,761 (GRCm39) |
missense |
probably benign |
|
|
IGL01671:Gga2
|
APN |
7 |
121,594,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01680:Gga2
|
APN |
7 |
121,597,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0122:Gga2
|
UTSW |
7 |
121,590,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Gga2
|
UTSW |
7 |
121,598,123 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1367:Gga2
|
UTSW |
7 |
121,598,138 (GRCm39) |
nonsense |
probably null |
|
|
R1774:Gga2
|
UTSW |
7 |
121,611,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4127:Gga2
|
UTSW |
7 |
121,601,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Gga2
|
UTSW |
7 |
121,620,301 (GRCm39) |
missense |
unknown |
|
|
R6319:Gga2
|
UTSW |
7 |
121,601,389 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6395:Gga2
|
UTSW |
7 |
121,607,661 (GRCm39) |
splice site |
probably null |
|
|
R6486:Gga2
|
UTSW |
7 |
121,601,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Gga2
|
UTSW |
7 |
121,598,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Gga2
|
UTSW |
7 |
121,588,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Gga2
|
UTSW |
7 |
121,601,326 (GRCm39) |
missense |
probably benign |
|
|
R7454:Gga2
|
UTSW |
7 |
121,601,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7593:Gga2
|
UTSW |
7 |
121,589,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7602:Gga2
|
UTSW |
7 |
121,596,553 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7638:Gga2
|
UTSW |
7 |
121,603,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Gga2
|
UTSW |
7 |
121,589,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Gga2
|
UTSW |
7 |
121,620,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8803:Gga2
|
UTSW |
7 |
121,597,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8817:Gga2
|
UTSW |
7 |
121,590,845 (GRCm39) |
nonsense |
probably null |
|
|
R9420:Gga2
|
UTSW |
7 |
121,603,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Gga2
|
UTSW |
7 |
121,611,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Gga2
|
UTSW |
7 |
121,606,494 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation