Incidental Mutation 'R0218:Gga2'
| ID |
33662 |
| 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 |
038467-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0218 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121585945-121620421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121598123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 324
(N324D)
|
| 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: N324D
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872
AA Change: N324D
| 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: N324D
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872
AA Change: N324D
| 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
|
| Meta Mutation Damage Score |
0.2038 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
G |
8: 44,079,477 (GRCm39) |
Q249P |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
A |
G |
8: 46,387,761 (GRCm39) |
|
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,609,106 (GRCm39) |
|
probably benign |
Het |
| Cdkl1 |
A |
T |
12: 69,836,809 (GRCm39) |
D40E |
probably benign |
Het |
| Cdx1 |
A |
G |
18: 61,153,436 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
T |
A |
13: 49,801,108 (GRCm39) |
K103N |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,093,862 (GRCm39) |
Y839H |
possibly damaging |
Het |
| Chac1 |
T |
A |
2: 119,183,941 (GRCm39) |
L181* |
probably null |
Het |
| Ciapin1 |
G |
T |
8: 95,554,938 (GRCm39) |
Q173K |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,690 (GRCm39) |
N182Y |
probably benign |
Het |
| Dgcr2 |
A |
G |
16: 17,667,650 (GRCm39) |
C270R |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,317,383 (GRCm39) |
S431P |
probably benign |
Het |
| Efcab12 |
T |
C |
6: 115,791,611 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,181,992 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,652,767 (GRCm39) |
V730D |
possibly damaging |
Het |
| Fam174b |
A |
G |
7: 73,390,512 (GRCm39) |
T88A |
probably benign |
Het |
| Fancl |
A |
G |
11: 26,421,337 (GRCm39) |
K364E |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,188,906 (GRCm39) |
Y402H |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,918,086 (GRCm39) |
F732L |
probably damaging |
Het |
| Heca |
T |
C |
10: 17,791,463 (GRCm39) |
M198V |
probably benign |
Het |
| Herc6 |
C |
A |
6: 57,596,586 (GRCm39) |
H509N |
probably benign |
Het |
| Irf2bpl |
A |
T |
12: 86,929,398 (GRCm39) |
M425K |
probably benign |
Het |
| Mael |
C |
T |
1: 166,066,159 (GRCm39) |
G26D |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,135,906 (GRCm39) |
T2241A |
probably benign |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,701,894 (GRCm39) |
S505P |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,992,783 (GRCm39) |
|
probably benign |
Het |
| Mex3b |
A |
T |
7: 82,518,312 (GRCm39) |
E209V |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,154 (GRCm39) |
E279G |
possibly damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,093,801 (GRCm39) |
Y10* |
probably null |
Het |
| Nfe2l1 |
A |
T |
11: 96,718,439 (GRCm39) |
L32Q |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,195,818 (GRCm39) |
V285I |
probably benign |
Het |
| Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
| Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,342 (GRCm39) |
N204S |
probably benign |
Het |
| Osr1 |
A |
G |
12: 9,629,639 (GRCm39) |
T171A |
probably benign |
Het |
| Ppp3cb |
A |
T |
14: 20,574,044 (GRCm39) |
C265S |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,674,417 (GRCm39) |
Y922H |
probably damaging |
Het |
| Slc25a39 |
A |
G |
11: 102,297,056 (GRCm39) |
F56L |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,976,948 (GRCm39) |
L211P |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,040,400 (GRCm39) |
S805G |
probably benign |
Het |
| Sra1 |
T |
C |
18: 36,809,662 (GRCm39) |
|
probably benign |
Het |
| Tas2r104 |
T |
G |
6: 131,662,055 (GRCm39) |
D218A |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,802,686 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,075,040 (GRCm39) |
|
probably null |
Het |
| Washc2 |
T |
A |
6: 116,225,007 (GRCm39) |
L785* |
probably null |
Het |
| Zfp30 |
A |
G |
7: 29,493,063 (GRCm39) |
E439G |
probably damaging |
Het |
| Zfp518a |
A |
G |
19: 40,901,072 (GRCm39) |
T334A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCCAAGAGGGGTTAAAACCTG -3'
(R):5'- AATGTGCCAAGCCTGGTAGAGC -3'
Sequencing Primer
(F):5'- GGGTTAAAACCTGGCACAAC -3'
(R):5'- CCTCAGCGGAGATTCTTCAA -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation