Incidental Mutation 'R1112:Gorasp2'
| ID |
96800 |
| 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 |
039185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R1112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
70491520-70522069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70521158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 376
(P376Q)
|
| 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: P396Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: P396Q
| 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: P376Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: P376Q
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak7 |
A |
G |
12: 105,679,831 (GRCm39) |
N122D |
probably benign |
Het |
| Arb2a |
A |
G |
13: 77,910,005 (GRCm39) |
Y40C |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
| Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,074 (GRCm39) |
S624G |
probably damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
| Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
| Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
| Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
| Or1e34 |
A |
C |
11: 73,779,060 (GRCm39) |
L46R |
probably damaging |
Het |
| Or51a5 |
C |
T |
7: 102,771,611 (GRCm39) |
D123N |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
| Padi4 |
C |
T |
4: 140,485,427 (GRCm39) |
S246N |
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,811 (GRCm39) |
F118I |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,939,412 (GRCm39) |
N287D |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
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 |
|
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'- GCCTCCAGTTAGAGGTCAGCAAAG -3'
(R):5'- GCTCTGAAGCATCTGCATCAGACAC -3'
Sequencing Primer
(F):5'- CTGGGAGAATATGTGACCTCTGC -3'
(R):5'- TCTGCATCAGACACAGGCTTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation