Incidental Mutation 'R6319:Gga2'
| ID |
509338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gga2
|
| Ensembl Gene |
ENSMUSG00000030872 |
| Gene Name |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
| Synonyms |
1200007E24Rik |
| MMRRC Submission |
044474-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
121585945-121620421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121601389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 238
(E238G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033160]
[ENSMUST00000124566]
|
| AlphaFold |
Q6P5E6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033160
AA Change: E238G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872
AA Change: E238G
| 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 |
possibly damaging
Transcript: ENSMUST00000124566
AA Change: E238G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872
AA Change: E238G
| 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: ENSMUST00000138441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145277
|
| Meta Mutation Damage Score |
0.2235 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
C |
6: 58,651,723 (GRCm39) |
S372P |
probably benign |
Het |
| Adam34 |
A |
G |
8: 44,104,952 (GRCm39) |
I231T |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,307,366 (GRCm39) |
H840L |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,750,978 (GRCm39) |
T470A |
probably benign |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| B430306N03Rik |
A |
T |
17: 48,623,771 (GRCm39) |
Q24L |
probably damaging |
Het |
| Bmp6 |
A |
T |
13: 38,530,390 (GRCm39) |
H161L |
probably benign |
Het |
| Cdca8 |
C |
A |
4: 124,815,087 (GRCm39) |
D177Y |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,379,565 (GRCm39) |
T1693A |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,167 (GRCm39) |
S1230P |
probably damaging |
Het |
| Dcaf13 |
A |
G |
15: 39,007,067 (GRCm39) |
T334A |
probably benign |
Het |
| Dhx32 |
A |
C |
7: 133,338,955 (GRCm39) |
V360G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,985,367 (GRCm39) |
T205A |
probably benign |
Het |
| Dxo |
A |
G |
17: 35,057,367 (GRCm39) |
E253G |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,523,929 (GRCm39) |
Y747C |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Grik4 |
A |
T |
9: 42,477,632 (GRCm39) |
M518K |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,933,000 (GRCm39) |
S841C |
probably damaging |
Het |
| Itfg1 |
G |
T |
8: 86,567,258 (GRCm39) |
T37K |
probably damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,081,165 (GRCm39) |
M301K |
possibly damaging |
Het |
| Kel |
C |
A |
6: 41,679,381 (GRCm39) |
E127D |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,310,666 (GRCm39) |
Y569C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,518,798 (GRCm39) |
V89D |
possibly damaging |
Het |
| Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
| Mnd1 |
A |
G |
3: 84,049,071 (GRCm39) |
S2P |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,053,023 (GRCm39) |
|
probably null |
Het |
| Or51af1 |
T |
C |
7: 103,141,932 (GRCm39) |
E51G |
possibly damaging |
Het |
| Or5h23 |
A |
G |
16: 58,906,384 (GRCm39) |
I154T |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,810 (GRCm39) |
V9A |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,961,093 (GRCm39) |
Y388N |
probably benign |
Het |
| Prr18 |
G |
T |
17: 8,560,143 (GRCm39) |
V100F |
probably damaging |
Het |
| Rnf25 |
T |
C |
1: 74,634,890 (GRCm39) |
Y44C |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 75,047,048 (GRCm39) |
L1247P |
probably damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,724,482 (GRCm39) |
R233C |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,186 (GRCm39) |
T137A |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,869,393 (GRCm39) |
V292A |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,803,758 (GRCm39) |
V1116A |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,136,200 (GRCm39) |
E942K |
possibly damaging |
Het |
| Unc5b |
G |
A |
10: 60,614,580 (GRCm39) |
A239V |
probably damaging |
Het |
| Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,566,877 (GRCm39) |
E463G |
possibly 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 |
|
IGL02745:Gga2
|
APN |
7 |
121,607,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTCCAGACCAGAATGGCAG -3'
(R):5'- AGACGATATTGTCACCTGCAGG -3'
Sequencing Primer
(F):5'- TGGCAGCCACAGAACACATG -3'
(R):5'- TCACCTGCAGGAATTCTGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation