Incidental Mutation 'R8834:Gcc2'
| ID |
674038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcc2
|
| Ensembl Gene |
ENSMUSG00000038039 |
| Gene Name |
GRIP and coiled-coil domain containing 2 |
| Synonyms |
0610043A03Rik, 2210420P05Rik, 2600014C01Rik |
| MMRRC Submission |
068662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R8834 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 58121867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000160416]
[ENSMUST00000162041]
[ENSMUST00000162860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057659
|
| SMART Domains |
Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
coiled coil region
|
33 |
282 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
353 |
378 |
3.94e-5 |
PROSPERO |
|
internal_repeat_2
|
382 |
406 |
3.94e-5 |
PROSPERO |
|
coiled coil region
|
790 |
882 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
964 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1093 |
1111 |
1.93e-5 |
PROSPERO |
|
low complexity region
|
1115 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1190 |
N/A |
INTRINSIC |
|
coiled coil region
|
1441 |
1470 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1554 |
1572 |
1.93e-5 |
PROSPERO |
|
Grip
|
1608 |
1655 |
4.37e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160416
|
| SMART Domains |
Protein: ENSMUSP00000123873
Gene: ENSMUSG00000038039
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162041
|
| SMART Domains |
Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
32 |
246 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
317 |
342 |
3.28e-5 |
PROSPERO |
|
internal_repeat_2
|
346 |
370 |
3.28e-5 |
PROSPERO |
|
coiled coil region
|
754 |
846 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
928 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1057 |
1075 |
1.6e-5 |
PROSPERO |
|
low complexity region
|
1079 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1154 |
N/A |
INTRINSIC |
|
coiled coil region
|
1405 |
1434 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1518 |
1536 |
1.6e-5 |
PROSPERO |
|
Grip
|
1572 |
1619 |
4.37e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162860
|
| SMART Domains |
Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
46 |
182 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
253 |
278 |
4.17e-5 |
PROSPERO |
|
internal_repeat_2
|
282 |
306 |
4.17e-5 |
PROSPERO |
|
coiled coil region
|
690 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
864 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
993 |
1011 |
2.06e-5 |
PROSPERO |
|
low complexity region
|
1015 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1090 |
N/A |
INTRINSIC |
|
coiled coil region
|
1341 |
1370 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1450 |
1468 |
2.06e-5 |
PROSPERO |
|
Grip
|
1504 |
1551 |
4.37e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,877,372 (GRCm39) |
T1007A |
probably benign |
Het |
| Adcy6 |
A |
G |
15: 98,498,922 (GRCm39) |
L293P |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,471,735 (GRCm39) |
V260E |
possibly damaging |
Het |
| Capn3 |
T |
A |
2: 120,294,534 (GRCm39) |
F61I |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,850,964 (GRCm39) |
S578G |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,608,049 (GRCm39) |
Y714C |
probably damaging |
Het |
| Dnah14 |
T |
G |
1: 181,444,315 (GRCm39) |
F542V |
possibly damaging |
Het |
| Dock8 |
T |
C |
19: 25,140,834 (GRCm39) |
V1350A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,306 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,942,493 (GRCm39) |
G1293E |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,395,581 (GRCm39) |
V985A |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,922,610 (GRCm39) |
D397G |
probably damaging |
Het |
| Gan |
C |
G |
8: 117,885,031 (GRCm39) |
P53R |
|
Het |
| Glb1l2 |
C |
T |
9: 26,689,314 (GRCm39) |
|
probably null |
Het |
| Gm973 |
T |
C |
1: 59,563,820 (GRCm39) |
F2L |
|
Het |
| Heatr5a |
A |
G |
12: 51,956,739 (GRCm39) |
|
probably null |
Het |
| Kifc2 |
T |
A |
15: 76,551,250 (GRCm39) |
H681Q |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,139,236 (GRCm39) |
S161C |
probably damaging |
Het |
| Lrrc3b |
A |
G |
14: 15,358,562 (GRCm38) |
C15R |
possibly damaging |
Het |
| Lrrc66 |
C |
G |
5: 73,765,928 (GRCm39) |
A372P |
possibly damaging |
Het |
| Ly75 |
C |
T |
2: 60,161,433 (GRCm39) |
R884H |
probably benign |
Het |
| Map2k6 |
T |
A |
11: 110,383,419 (GRCm39) |
C109* |
probably null |
Het |
| Mapk9 |
C |
T |
11: 49,774,010 (GRCm39) |
S389L |
probably damaging |
Het |
| Mier2 |
C |
T |
10: 79,386,293 (GRCm39) |
G57D |
unknown |
Het |
| Mis18bp1 |
A |
T |
12: 65,208,419 (GRCm39) |
M98K |
probably benign |
Het |
| Mrtfa |
A |
G |
15: 80,904,511 (GRCm39) |
L196P |
probably benign |
Het |
| Or1e17 |
T |
C |
11: 73,831,164 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pcsk7 |
A |
G |
9: 45,830,589 (GRCm39) |
S456G |
possibly damaging |
Het |
| Phf12 |
T |
A |
11: 77,897,608 (GRCm39) |
C102S |
probably damaging |
Het |
| Ppm1k |
A |
G |
6: 57,502,023 (GRCm39) |
C47R |
probably benign |
Het |
| Rgs10 |
A |
G |
7: 127,990,809 (GRCm39) |
I93T |
probably damaging |
Het |
| Ror2 |
CCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTC |
13: 53,264,338 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,416,431 (GRCm39) |
F579Y |
possibly damaging |
Het |
| Selplg |
G |
A |
5: 113,957,691 (GRCm39) |
S205L |
possibly damaging |
Het |
| Sh3gl3 |
T |
C |
7: 81,955,999 (GRCm39) |
V109A |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,807,845 (GRCm39) |
S336P |
|
Het |
| Tlr2 |
C |
A |
3: 83,746,020 (GRCm39) |
R21L |
probably benign |
Het |
| Trpa1 |
C |
T |
1: 14,963,528 (GRCm39) |
V565I |
possibly damaging |
Het |
| Ubqln1 |
A |
T |
13: 58,331,058 (GRCm39) |
S390T |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,833,785 (GRCm39) |
V1514A |
probably benign |
Het |
| Uchl5 |
A |
T |
1: 143,661,968 (GRCm39) |
K81* |
probably null |
Het |
| Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
| Usp12 |
T |
A |
5: 146,691,327 (GRCm39) |
E142D |
probably benign |
Het |
| V1ra8 |
A |
T |
6: 90,180,622 (GRCm39) |
D275V |
unknown |
Het |
| Zfp804a |
A |
G |
2: 82,089,441 (GRCm39) |
H1090R |
possibly damaging |
Het |
|
| Other mutations in Gcc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Gcc2
|
APN |
10 |
58,128,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00850:Gcc2
|
APN |
10 |
58,094,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00935:Gcc2
|
APN |
10 |
58,114,601 (GRCm39) |
splice site |
probably benign |
|
|
IGL01551:Gcc2
|
APN |
10 |
58,134,691 (GRCm39) |
splice site |
probably benign |
|
|
IGL01642:Gcc2
|
APN |
10 |
58,116,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02041:Gcc2
|
APN |
10 |
58,105,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Gcc2
|
APN |
10 |
58,107,458 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02448:Gcc2
|
APN |
10 |
58,128,393 (GRCm39) |
nonsense |
probably null |
|
|
IGL02698:Gcc2
|
APN |
10 |
58,107,112 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02888:Gcc2
|
APN |
10 |
58,130,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Gcc2
|
APN |
10 |
58,131,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03223:Gcc2
|
APN |
10 |
58,134,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03249:Gcc2
|
APN |
10 |
58,106,814 (GRCm39) |
nonsense |
probably null |
|
|
R0179:Gcc2
|
UTSW |
10 |
58,112,472 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0528:Gcc2
|
UTSW |
10 |
58,134,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1569:Gcc2
|
UTSW |
10 |
58,105,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1606:Gcc2
|
UTSW |
10 |
58,105,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Gcc2
|
UTSW |
10 |
58,139,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1916:Gcc2
|
UTSW |
10 |
58,112,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Gcc2
|
UTSW |
10 |
58,121,965 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2058:Gcc2
|
UTSW |
10 |
58,121,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2114:Gcc2
|
UTSW |
10 |
58,105,362 (GRCm39) |
nonsense |
probably null |
|
|
R2280:Gcc2
|
UTSW |
10 |
58,105,502 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2435:Gcc2
|
UTSW |
10 |
58,130,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Gcc2
|
UTSW |
10 |
58,126,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4753:Gcc2
|
UTSW |
10 |
58,126,204 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4827:Gcc2
|
UTSW |
10 |
58,121,953 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4911:Gcc2
|
UTSW |
10 |
58,106,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Gcc2
|
UTSW |
10 |
58,114,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5224:Gcc2
|
UTSW |
10 |
58,121,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5271:Gcc2
|
UTSW |
10 |
58,105,517 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5398:Gcc2
|
UTSW |
10 |
58,105,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5411:Gcc2
|
UTSW |
10 |
58,106,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5594:Gcc2
|
UTSW |
10 |
58,123,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5825:Gcc2
|
UTSW |
10 |
58,130,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5974:Gcc2
|
UTSW |
10 |
58,094,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5987:Gcc2
|
UTSW |
10 |
58,091,669 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6195:Gcc2
|
UTSW |
10 |
58,106,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6198:Gcc2
|
UTSW |
10 |
58,128,412 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6233:Gcc2
|
UTSW |
10 |
58,106,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6331:Gcc2
|
UTSW |
10 |
58,107,287 (GRCm39) |
missense |
probably benign |
|
|
R6349:Gcc2
|
UTSW |
10 |
58,105,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6593:Gcc2
|
UTSW |
10 |
58,107,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6632:Gcc2
|
UTSW |
10 |
58,105,871 (GRCm39) |
splice site |
probably null |
|
|
R6647:Gcc2
|
UTSW |
10 |
58,123,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6774:Gcc2
|
UTSW |
10 |
58,117,261 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6808:Gcc2
|
UTSW |
10 |
58,094,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7072:Gcc2
|
UTSW |
10 |
58,106,749 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7220:Gcc2
|
UTSW |
10 |
58,116,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7352:Gcc2
|
UTSW |
10 |
58,116,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7384:Gcc2
|
UTSW |
10 |
58,105,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Gcc2
|
UTSW |
10 |
58,092,723 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7441:Gcc2
|
UTSW |
10 |
58,092,723 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7543:Gcc2
|
UTSW |
10 |
58,107,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7843:Gcc2
|
UTSW |
10 |
58,103,843 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7850:Gcc2
|
UTSW |
10 |
58,114,703 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7980:Gcc2
|
UTSW |
10 |
58,114,574 (GRCm39) |
splice site |
probably null |
|
|
R8336:Gcc2
|
UTSW |
10 |
58,108,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8785:Gcc2
|
UTSW |
10 |
58,107,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9006:Gcc2
|
UTSW |
10 |
58,103,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Gcc2
|
UTSW |
10 |
58,106,411 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9240:Gcc2
|
UTSW |
10 |
58,106,398 (GRCm39) |
nonsense |
probably null |
|
|
R9287:Gcc2
|
UTSW |
10 |
58,105,217 (GRCm39) |
nonsense |
probably null |
|
|
R9370:Gcc2
|
UTSW |
10 |
58,131,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9433:Gcc2
|
UTSW |
10 |
58,106,592 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9653:Gcc2
|
UTSW |
10 |
58,110,822 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0018:Gcc2
|
UTSW |
10 |
58,114,636 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTGCAGTAAGATTGGCTC -3'
(R):5'- GGTAACTTACTTCTACATGGCAAAAGC -3'
Sequencing Primer
(F):5'- AGTAAGATTGGCTCTGTGTTCATAAG -3'
(R):5'- ACTTCTACATGGCAAAAGCTTTTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation