Incidental Mutation 'R4636:Gorasp2'
| ID |
350724 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R4636 (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 70509836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 166
(Y166N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121549
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028509]
[ENSMUST00000112201]
[ENSMUST00000112205]
[ENSMUST00000133432]
|
| AlphaFold |
Q99JX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028509
AA Change: Y166N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: Y166N
| 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 damaging
Transcript: ENSMUST00000112201
AA Change: Y146N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: Y146N
| 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 damaging
Transcript: ENSMUST00000112205
AA Change: Y166N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959
AA Change: Y166N
| 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 |
noncoding transcript
Transcript: ENSMUST00000130970
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133432
AA Change: Y166N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959
AA Change: Y166N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcs |
T |
C |
1: 172,721,989 (GRCm39) |
E119G |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,251,876 (GRCm39) |
T876A |
probably benign |
Het |
| Arih2 |
A |
T |
9: 108,491,013 (GRCm39) |
C227S |
probably damaging |
Het |
| Bsn |
A |
T |
9: 107,992,623 (GRCm39) |
L1043Q |
probably damaging |
Het |
| Cyp2d34 |
G |
C |
15: 82,504,929 (GRCm39) |
P44A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,360,301 (GRCm39) |
N438K |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,170,098 (GRCm39) |
M447T |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,297,914 (GRCm39) |
S92P |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Mrpl1 |
G |
T |
5: 96,358,034 (GRCm39) |
V5L |
probably benign |
Het |
| Nifk |
T |
A |
1: 118,257,217 (GRCm39) |
Y117N |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,053,420 (GRCm39) |
K2028E |
probably benign |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,482 (GRCm39) |
F558S |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,660 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
C |
T |
9: 96,426,390 (GRCm39) |
D819N |
probably benign |
Het |
| Rbl1 |
T |
A |
2: 157,009,340 (GRCm39) |
T732S |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,239,007 (GRCm39) |
V204A |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,643,937 (GRCm39) |
L13097R |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,568 (GRCm39) |
E280G |
probably benign |
Het |
| Znhit6 |
G |
T |
3: 145,306,334 (GRCm39) |
V280L |
probably null |
Het |
| Znhit6 |
A |
G |
3: 145,306,333 (GRCm39) |
|
silent |
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 |
|
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 |
|
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'- TTTCATGCTAAGGTAGGGCC -3'
(R):5'- CGATTTTCCCTAGGCATGCAC -3'
Sequencing Primer
(F):5'- ATCCTGGAACTCACTTGGTAGAC -3'
(R):5'- CACATCTCTGACTGCTAAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation