Incidental Mutation 'IGL03132:Gorasp2'
ID |
410373 |
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 # |
IGL03132
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
70491520-70522069 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70514379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 232
(V232A)
|
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: V252A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000028509 Gene: ENSMUSG00000014959 AA Change: V252A
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: V232A
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107820 Gene: ENSMUSG00000014959 AA Change: V232A
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
AA Change: V252A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000107824 Gene: ENSMUSG00000014959 AA Change: V252A
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
AA Change: V252A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000121549 Gene: ENSMUSG00000014959 AA Change: V252A
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
G |
A |
6: 88,815,941 (GRCm39) |
R177C |
probably benign |
Het |
Adam21 |
C |
A |
12: 81,607,148 (GRCm39) |
G205* |
probably null |
Het |
Baz2b |
T |
A |
2: 59,738,097 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,731,615 (GRCm39) |
G939D |
probably damaging |
Het |
Csf1r |
A |
G |
18: 61,261,171 (GRCm39) |
E749G |
probably benign |
Het |
Dnm3 |
C |
T |
1: 161,838,674 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
G |
18: 20,657,653 (GRCm39) |
D241G |
probably damaging |
Het |
Dst |
T |
C |
1: 34,295,722 (GRCm39) |
S6015P |
probably benign |
Het |
Dvl2 |
T |
C |
11: 69,896,514 (GRCm39) |
S183P |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,768,246 (GRCm39) |
N699S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,144,746 (GRCm39) |
R4043G |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,232,819 (GRCm39) |
T278S |
possibly damaging |
Het |
Gm2a |
T |
A |
11: 54,994,474 (GRCm39) |
I48N |
probably damaging |
Het |
Gpa33 |
G |
A |
1: 165,980,218 (GRCm39) |
D94N |
probably benign |
Het |
Il1rap |
A |
T |
16: 26,498,869 (GRCm39) |
S123C |
probably damaging |
Het |
Kctd17 |
T |
C |
15: 78,319,887 (GRCm39) |
S102P |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,350,333 (GRCm39) |
|
probably null |
Het |
Mfsd1 |
T |
A |
3: 67,495,273 (GRCm39) |
I131K |
possibly damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,438,013 (GRCm39) |
C3576Y |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,778,035 (GRCm39) |
|
probably benign |
Het |
Ptpn11 |
T |
A |
5: 121,272,878 (GRCm39) |
D575V |
possibly damaging |
Het |
Reck |
A |
T |
4: 43,938,898 (GRCm39) |
R755* |
probably null |
Het |
Scgb2b21 |
A |
G |
7: 33,219,299 (GRCm39) |
V35A |
possibly damaging |
Het |
Srpra |
G |
A |
9: 35,125,574 (GRCm39) |
|
probably null |
Het |
Stk11ip |
T |
C |
1: 75,512,733 (GRCm39) |
S1025P |
probably benign |
Het |
Tmprss9 |
G |
A |
10: 80,730,699 (GRCm39) |
V742M |
probably damaging |
Het |
Trh |
T |
C |
6: 92,220,755 (GRCm39) |
T36A |
probably benign |
Het |
Trim35 |
A |
G |
14: 66,546,595 (GRCm39) |
E454G |
probably damaging |
Het |
Vmn2r99 |
C |
T |
17: 19,598,485 (GRCm39) |
Q170* |
probably null |
Het |
|
Other mutations in Gorasp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00928:Gorasp2
|
APN |
2 |
70,521,208 (GRCm39) |
missense |
probably benign |
|
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 |
|
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 |
2016-08-02 |