Incidental Mutation 'R4062:Gorasp2'
| ID |
315890 |
| 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 |
040971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R4062 (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 C
at 70509857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 173
(C173R)
|
| 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: C173R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: C173R
| 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: C153R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: C153R
| 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: C173R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959
AA Change: C173R
| 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: C173R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959
AA Change: C173R
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
| Adam17 |
T |
C |
12: 21,375,458 (GRCm39) |
D787G |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Bnip3l |
T |
C |
14: 67,246,187 (GRCm39) |
N16S |
possibly damaging |
Het |
| Cd320 |
T |
A |
17: 34,066,491 (GRCm39) |
N90K |
probably benign |
Het |
| Cdc40 |
A |
T |
10: 40,725,848 (GRCm39) |
|
probably null |
Het |
| Clec4b1 |
C |
A |
6: 123,045,443 (GRCm39) |
H55N |
probably benign |
Het |
| Cyp4a10 |
A |
T |
4: 115,376,898 (GRCm39) |
R87S |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,686,606 (GRCm39) |
C355R |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,749,716 (GRCm39) |
T631A |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,889,847 (GRCm39) |
M472K |
probably benign |
Het |
| Erap1 |
G |
T |
13: 74,811,655 (GRCm39) |
M338I |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fanca |
T |
C |
8: 124,001,911 (GRCm39) |
T1061A |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Gcdh |
T |
C |
8: 85,619,082 (GRCm39) |
I152V |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,235,907 (GRCm39) |
K403E |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,522,150 (GRCm39) |
V749I |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
| Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
| Isl1 |
T |
A |
13: 116,439,626 (GRCm39) |
I241F |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,452,620 (GRCm39) |
V442A |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Mbnl1 |
T |
C |
3: 60,511,176 (GRCm39) |
L136P |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
| Obscn |
T |
C |
11: 58,973,536 (GRCm39) |
T1932A |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
| Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
| Rab3il1 |
T |
C |
19: 10,003,988 (GRCm39) |
S36P |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,572,664 (GRCm39) |
N512K |
probably benign |
Het |
| Rinl |
T |
C |
7: 28,490,140 (GRCm39) |
Y60H |
probably benign |
Het |
| Scamp2 |
G |
T |
9: 57,484,545 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
C |
11: 117,243,091 (GRCm39) |
S324P |
probably damaging |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Soat2 |
A |
G |
15: 102,069,526 (GRCm39) |
T396A |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,899,482 (GRCm39) |
G2559S |
probably damaging |
Het |
| Tpcn1 |
G |
A |
5: 120,695,962 (GRCm39) |
A97V |
possibly damaging |
Het |
| Trdn |
A |
G |
10: 33,133,083 (GRCm39) |
E311G |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,935,572 (GRCm39) |
Y333H |
probably damaging |
Het |
| Usp18 |
A |
G |
6: 121,238,326 (GRCm39) |
T158A |
probably benign |
Het |
| Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
| Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
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 |
|
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 |
|
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'- AGCTTCTCGGTTGATTCTGAAG -3'
(R):5'- ATTTTCCCTAGGCATGCACC -3'
Sequencing Primer
(F):5'- TTGATTCTGAAGGGAGCCAGC -3'
(R):5'- CATCTCTGACTGCTAAGACTA -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation