Incidental Mutation 'R0846:Gorasp2'
| ID |
77356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gorasp2
|
| Ensembl Gene |
ENSMUSG00000014959 |
| Gene Name |
golgi reassembly stacking protein 2 |
| Synonyms |
ENSMUSG00000075299, 9430094F20Rik, GOLPH2, GRASP55, 5730520M13Rik, GRS2, p59 |
| MMRRC Submission |
039025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R0846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
70491520-70522069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70521298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 443
(S443T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028509]
[ENSMUST00000112201]
[ENSMUST00000112205]
[ENSMUST00000133432]
|
| AlphaFold |
Q99JX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028509
AA Change: S443T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: S443T
| 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: S423T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: S423T
| 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 |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
| Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
| Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
| Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
| Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
| Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
| Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
| Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
| Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
| Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
| Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
| Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
| Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
probably damaging |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCGAAACTTACCTGGCATTGCAC -3'
(R):5'- AAGCACATTCTCAGATTGCCCTCC -3'
Sequencing Primer
(F):5'- ACCTGGCATTGCACCTCTC -3'
(R):5'- TGTAACCCCCCGACGTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation