Incidental Mutation 'IGL01611:Gorasp2'
ID |
92102 |
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 # |
IGL01611
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
70491520-70522069 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 70519604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 310
(H310N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028509]
[ENSMUST00000112201]
[ENSMUST00000112205]
[ENSMUST00000133432]
|
AlphaFold |
Q99JX3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028509
AA Change: H330N
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000028509 Gene: ENSMUSG00000014959 AA Change: H330N
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 |
possibly damaging
Transcript: ENSMUST00000112201
AA Change: H310N
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107820 Gene: ENSMUSG00000014959 AA Change: H310N
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: H330N
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107824 Gene: ENSMUSG00000014959 AA Change: H330N
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
G |
12: 72,954,644 (GRCm39) |
L209S |
possibly damaging |
Het |
Abcc2 |
G |
T |
19: 43,815,068 (GRCm39) |
V1152F |
probably damaging |
Het |
Adam9 |
C |
T |
8: 25,457,212 (GRCm39) |
V639I |
probably benign |
Het |
Cdc6 |
A |
G |
11: 98,805,989 (GRCm39) |
I388V |
probably benign |
Het |
Chrm5 |
C |
T |
2: 112,310,651 (GRCm39) |
W155* |
probably null |
Het |
Chrna9 |
A |
G |
5: 66,128,287 (GRCm39) |
D161G |
probably damaging |
Het |
Det1 |
A |
G |
7: 78,477,702 (GRCm39) |
V541A |
possibly damaging |
Het |
Efhc1 |
G |
T |
1: 21,060,911 (GRCm39) |
*649L |
probably null |
Het |
Ehbp1 |
C |
T |
11: 22,122,883 (GRCm39) |
V146M |
probably damaging |
Het |
Enam |
A |
C |
5: 88,651,608 (GRCm39) |
D1039A |
probably damaging |
Het |
Fam20b |
A |
T |
1: 156,530,035 (GRCm39) |
V133E |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,563,130 (GRCm39) |
Q459L |
probably benign |
Het |
Gapdhs |
C |
T |
7: 30,429,866 (GRCm39) |
|
probably benign |
Het |
Gm3404 |
T |
A |
5: 146,465,157 (GRCm39) |
V299D |
possibly damaging |
Het |
Gpr157 |
T |
C |
4: 150,186,094 (GRCm39) |
S219P |
possibly damaging |
Het |
Gpt2 |
T |
A |
8: 86,246,167 (GRCm39) |
C375* |
probably null |
Het |
Gtf2h3 |
T |
C |
5: 124,733,748 (GRCm39) |
S274P |
probably damaging |
Het |
Hmg20b |
C |
T |
10: 81,183,309 (GRCm39) |
V83M |
probably benign |
Het |
Igf2r |
G |
T |
17: 12,944,302 (GRCm39) |
Y400* |
probably null |
Het |
Ipo9 |
A |
T |
1: 135,314,431 (GRCm39) |
W942R |
possibly damaging |
Het |
Iqch |
T |
C |
9: 63,403,519 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
T |
C |
15: 99,127,383 (GRCm39) |
L393P |
probably benign |
Het |
Kcnk12 |
T |
A |
17: 88,104,495 (GRCm39) |
I130L |
probably benign |
Het |
Lcorl |
T |
C |
5: 45,904,434 (GRCm39) |
T205A |
probably damaging |
Het |
Lpar6 |
G |
T |
14: 73,476,878 (GRCm39) |
A280S |
probably damaging |
Het |
Mgarp |
A |
T |
3: 51,296,570 (GRCm39) |
V152E |
probably damaging |
Het |
Pard3b |
A |
G |
1: 62,677,021 (GRCm39) |
D1184G |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,272,258 (GRCm39) |
|
probably null |
Het |
Pde6b |
A |
G |
5: 108,551,262 (GRCm39) |
N182S |
possibly damaging |
Het |
Pom121 |
T |
C |
5: 135,412,526 (GRCm39) |
K516E |
unknown |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,498,898 (GRCm39) |
|
probably benign |
Het |
Rapgef5 |
C |
T |
12: 117,717,154 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,606,202 (GRCm39) |
L4460S |
possibly damaging |
Het |
Sema6b |
T |
C |
17: 56,436,969 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
A |
13: 33,850,375 (GRCm39) |
C67* |
probably null |
Het |
Sorbs2 |
T |
G |
8: 46,248,381 (GRCm39) |
V510G |
probably null |
Het |
Spic |
T |
A |
10: 88,511,864 (GRCm39) |
I131F |
possibly damaging |
Het |
Spire2 |
T |
C |
8: 124,086,137 (GRCm39) |
S290P |
probably damaging |
Het |
Tas2r117 |
C |
T |
6: 132,780,447 (GRCm39) |
S195F |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,450 (GRCm39) |
V196A |
probably damaging |
Het |
Tff1 |
C |
T |
17: 31,381,703 (GRCm39) |
G58D |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,638,640 (GRCm39) |
T283A |
probably benign |
Het |
Toporsl |
T |
A |
4: 52,610,794 (GRCm39) |
L229H |
probably damaging |
Het |
Vmn2r80 |
G |
A |
10: 79,007,488 (GRCm39) |
G488D |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,261,082 (GRCm39) |
V583D |
probably damaging |
Het |
Vwa1 |
T |
C |
4: 155,855,255 (GRCm39) |
E286G |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,219,977 (GRCm39) |
I58N |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,800,973 (GRCm39) |
V109A |
probably damaging |
Het |
Zfp319 |
C |
T |
8: 96,055,540 (GRCm39) |
R221Q |
probably benign |
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 |
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 |
2013-12-09 |