Incidental Mutation 'IGL00928:Gorasp2'
| ID |
26898 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gorasp2
|
| Ensembl Gene |
ENSMUSG00000014959 |
| Gene Name |
golgi reassembly stacking protein 2 |
| Synonyms |
ENSMUSG00000075299, 9430094F20Rik, GOLPH2, GRASP55, 5730520M13Rik, GRS2, p59 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL00928
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
70491520-70522069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70521208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 393
(T393A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028509]
[ENSMUST00000112201]
[ENSMUST00000112205]
[ENSMUST00000133432]
|
| AlphaFold |
Q99JX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028509
AA Change: T413A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: T413A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
5 |
75 |
8.14e-1 |
SMART |
|
internal_repeat_1
|
107 |
196 |
4.52e-17 |
PROSPERO |
|
low complexity region
|
236 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112201
AA Change: T393A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: T393A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GRASP55_65
|
1 |
62 |
4.6e-11 |
PFAM |
|
Pfam:GRASP55_65
|
49 |
185 |
1.9e-65 |
PFAM |
|
low complexity region
|
216 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112205
|
| SMART Domains |
Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
5 |
75 |
3.9e-3 |
SMART |
|
internal_repeat_1
|
107 |
196 |
7.65e-17 |
PROSPERO |
|
low complexity region
|
236 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133432
|
| SMART Domains |
Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
5 |
75 |
8.14e-1 |
SMART |
|
internal_repeat_1
|
107 |
196 |
1.1e-15 |
PROSPERO |
|
low complexity region
|
236 |
252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136485
|
| 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 reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,217,720 (GRCm39) |
|
probably benign |
Het |
| Ablim3 |
T |
C |
18: 61,982,477 (GRCm39) |
E156G |
possibly damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,886,096 (GRCm39) |
T79A |
probably benign |
Het |
| Arel1 |
A |
T |
12: 84,980,936 (GRCm39) |
V357E |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,594,675 (GRCm39) |
I241V |
probably benign |
Het |
| B3galt2 |
A |
G |
1: 143,522,893 (GRCm39) |
Y343C |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,927,220 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,380,018 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
C |
1: 67,162,393 (GRCm39) |
T24P |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,923,764 (GRCm39) |
L293P |
possibly damaging |
Het |
| Engase |
C |
A |
11: 118,373,796 (GRCm39) |
R313S |
possibly damaging |
Het |
| Espn |
A |
G |
4: 152,220,059 (GRCm39) |
S28P |
probably damaging |
Het |
| Gnas |
T |
A |
2: 174,139,746 (GRCm39) |
L31* |
probably null |
Het |
| Gpc6 |
T |
A |
14: 117,163,370 (GRCm39) |
V8E |
possibly damaging |
Het |
| Gtf2a1l |
T |
C |
17: 89,001,890 (GRCm39) |
S202P |
probably benign |
Het |
| Gucy1a2 |
T |
C |
9: 3,759,777 (GRCm39) |
F528L |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,018 (GRCm39) |
H721R |
probably benign |
Het |
| Kcnu1 |
T |
C |
8: 26,339,763 (GRCm39) |
F27S |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,635,578 (GRCm39) |
W366R |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,396,908 (GRCm39) |
V954A |
probably damaging |
Het |
| Nudt13 |
T |
C |
14: 20,366,231 (GRCm39) |
I303T |
possibly damaging |
Het |
| Or10s1 |
T |
A |
9: 39,986,072 (GRCm39) |
H160Q |
probably damaging |
Het |
| Or2h1 |
A |
C |
17: 37,404,224 (GRCm39) |
S181A |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,800,281 (GRCm39) |
V289A |
probably benign |
Het |
| Pamr1 |
C |
A |
2: 102,469,686 (GRCm39) |
Q411K |
probably benign |
Het |
| Pdcl |
A |
G |
2: 37,247,386 (GRCm39) |
M1T |
probably null |
Het |
| Phf20 |
T |
C |
2: 156,146,736 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,365,424 (GRCm39) |
S49G |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,339,283 (GRCm39) |
|
probably null |
Het |
| Rdh14 |
G |
A |
12: 10,444,803 (GRCm39) |
S218N |
probably damaging |
Het |
| Rfx4 |
A |
G |
10: 84,675,978 (GRCm39) |
R16G |
probably benign |
Het |
| Scarb2 |
A |
C |
5: 92,594,203 (GRCm39) |
F453C |
probably damaging |
Het |
| Sh2d7 |
A |
G |
9: 54,448,515 (GRCm39) |
T179A |
probably benign |
Het |
| Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
| Trim71 |
T |
C |
9: 114,354,083 (GRCm39) |
D307G |
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,267,790 (GRCm39) |
L294M |
probably damaging |
Het |
| Wdr93 |
C |
A |
7: 79,425,301 (GRCm39) |
P540Q |
probably damaging |
Het |
| Wmp |
T |
A |
X: 106,989,449 (GRCm39) |
E488V |
possibly damaging |
Het |
|
| Other mutations in Gorasp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Gorasp2
|
APN |
2 |
70,508,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01611:Gorasp2
|
APN |
2 |
70,519,604 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02472:Gorasp2
|
APN |
2 |
70,506,803 (GRCm39) |
splice site |
probably benign |
|
|
IGL02794:Gorasp2
|
APN |
2 |
70,509,838 (GRCm39) |
nonsense |
probably null |
|
|
IGL03132:Gorasp2
|
APN |
2 |
70,514,379 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL03369:Gorasp2
|
APN |
2 |
70,513,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Gorasp2
|
UTSW |
2 |
70,521,067 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0049:Gorasp2
|
UTSW |
2 |
70,521,067 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0846:Gorasp2
|
UTSW |
2 |
70,521,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1112:Gorasp2
|
UTSW |
2 |
70,521,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1168:Gorasp2
|
UTSW |
2 |
70,518,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Gorasp2
|
UTSW |
2 |
70,509,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Gorasp2
|
UTSW |
2 |
70,509,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4636:Gorasp2
|
UTSW |
2 |
70,509,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Gorasp2
|
UTSW |
2 |
70,518,683 (GRCm39) |
intron |
probably benign |
|
|
R5215:Gorasp2
|
UTSW |
2 |
70,519,598 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5473:Gorasp2
|
UTSW |
2 |
70,508,950 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6005:Gorasp2
|
UTSW |
2 |
70,521,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6220:Gorasp2
|
UTSW |
2 |
70,521,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6358:Gorasp2
|
UTSW |
2 |
70,503,104 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R7225:Gorasp2
|
UTSW |
2 |
70,514,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7278:Gorasp2
|
UTSW |
2 |
70,509,849 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7895:Gorasp2
|
UTSW |
2 |
70,514,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9421:Gorasp2
|
UTSW |
2 |
70,509,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Gorasp2
|
UTSW |
2 |
70,541,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation