Incidental Mutation 'R6349:Gcc2'
| ID |
512446 |
| 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 |
044503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R6349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58105296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 141
(D141E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124787
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000160427]
[ENSMUST00000162041]
[ENSMUST00000162860]
[ENSMUST00000162984]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057659
AA Change: D177E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: D177E
| 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: ENSMUST00000160427
|
| SMART Domains |
Protein: ENSMUSP00000124411
Gene: ENSMUSG00000038039
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
32 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161570
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162041
AA Change: D141E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: D141E
| 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
AA Change: D77E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: D77E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162984
|
| SMART Domains |
Protein: ENSMUSP00000124988
Gene: ENSMUSG00000038039
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012A03Rik |
A |
G |
6: 32,028,595 (GRCm39) |
Y9C |
probably benign |
Het |
| 4930433I11Rik |
A |
C |
7: 40,644,196 (GRCm39) |
M622L |
possibly damaging |
Het |
| Abca8b |
C |
T |
11: 109,825,544 (GRCm39) |
|
probably null |
Het |
| Adam28 |
T |
C |
14: 68,870,621 (GRCm39) |
I351V |
probably benign |
Het |
| Adgrd1 |
A |
C |
5: 129,219,603 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
A |
10: 69,815,269 (GRCm39) |
I473N |
probably damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,822,231 (GRCm39) |
H179Q |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,863,903 (GRCm39) |
R808G |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,819,850 (GRCm39) |
I280F |
probably damaging |
Het |
| Asb2 |
C |
T |
12: 103,312,118 (GRCm39) |
M1I |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,491,691 (GRCm39) |
Q1023* |
probably null |
Het |
| Cast |
T |
A |
13: 74,869,314 (GRCm39) |
E542D |
probably damaging |
Het |
| Ccdc162 |
C |
T |
10: 41,570,396 (GRCm39) |
E30K |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,891,347 (GRCm39) |
V613A |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,926,304 (GRCm39) |
N832S |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,885 (GRCm39) |
N696I |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,857 (GRCm39) |
E161G |
possibly damaging |
Het |
| Cxcr4 |
C |
A |
1: 128,517,014 (GRCm39) |
V216F |
possibly damaging |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,555 (GRCm39) |
I282V |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,902,863 (GRCm39) |
T154A |
possibly damaging |
Het |
| Dido1 |
A |
T |
2: 180,302,494 (GRCm39) |
D1803E |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,982,267 (GRCm39) |
I240V |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,159,803 (GRCm39) |
C484R |
probably damaging |
Het |
| Fech |
G |
T |
18: 64,603,856 (GRCm39) |
Y164* |
probably null |
Het |
| Fer1l5 |
T |
A |
1: 36,450,355 (GRCm39) |
W1175R |
probably damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,372 (GRCm39) |
Y241H |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,793,974 (GRCm39) |
Y117H |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,823,416 (GRCm39) |
M6383K |
probably benign |
Het |
| Glt1d1 |
A |
C |
5: 127,783,950 (GRCm39) |
R301S |
probably benign |
Het |
| Hars1 |
G |
C |
18: 36,916,107 (GRCm39) |
A16G |
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,278,385 (GRCm39) |
G1696C |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,145,091 (GRCm39) |
L814* |
probably null |
Het |
| Izumo4 |
T |
A |
10: 80,538,551 (GRCm39) |
M1K |
probably null |
Het |
| Kdm5d |
T |
A |
Y: 916,847 (GRCm39) |
M414K |
probably damaging |
Homo |
| Kif21b |
G |
A |
1: 136,086,064 (GRCm39) |
V812I |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,988,661 (GRCm39) |
D270G |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,486 (GRCm39) |
S1347P |
probably benign |
Het |
| Mras |
T |
A |
9: 99,276,669 (GRCm39) |
D67V |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,509 (GRCm39) |
Y183* |
probably null |
Het |
| Muc16 |
A |
T |
9: 18,568,625 (GRCm39) |
L1298Q |
unknown |
Het |
| Myh2 |
A |
T |
11: 67,083,829 (GRCm39) |
I1536F |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,787 (GRCm39) |
I221T |
possibly damaging |
Het |
| Osmr |
G |
T |
15: 6,850,544 (GRCm39) |
D686E |
probably benign |
Het |
| Pah |
T |
A |
10: 87,414,831 (GRCm39) |
D394E |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,237,486 (GRCm39) |
S71C |
probably benign |
Het |
| Proc |
T |
A |
18: 32,266,486 (GRCm39) |
I114L |
probably benign |
Het |
| Psd |
T |
G |
19: 46,301,826 (GRCm39) |
|
probably null |
Het |
| Psmb6 |
C |
T |
11: 70,418,364 (GRCm39) |
Q226* |
probably null |
Het |
| Rnpepl1 |
A |
T |
1: 92,847,563 (GRCm39) |
N717Y |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,324,988 (GRCm39) |
S565P |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,495 (GRCm39) |
S300R |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,323,257 (GRCm39) |
D483G |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,892,547 (GRCm39) |
I291T |
probably benign |
Het |
| Smg6 |
T |
A |
11: 74,944,600 (GRCm39) |
D116E |
possibly damaging |
Het |
| Srfbp1 |
G |
T |
18: 52,622,034 (GRCm39) |
S365I |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,835,872 (GRCm39) |
T236A |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,870 (GRCm39) |
V251A |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,118,332 (GRCm39) |
Y314C |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,179,048 (GRCm39) |
D112G |
possibly damaging |
Het |
| Tubb2b |
A |
G |
13: 34,311,528 (GRCm39) |
Y422H |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,872 (GRCm39) |
S332P |
possibly damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,412 (GRCm39) |
Q44P |
probably damaging |
Het |
| Vrtn |
T |
C |
12: 84,695,792 (GRCm39) |
S181P |
probably damaging |
Het |
| Wdr76 |
T |
A |
2: 121,364,712 (GRCm39) |
Y437N |
possibly damaging |
Het |
| Zc3h18 |
C |
A |
8: 123,135,025 (GRCm39) |
|
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,616,168 (GRCm39) |
D174E |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,244,601 (GRCm39) |
Y121* |
probably null |
Het |
| Zfyve19 |
T |
A |
2: 119,041,078 (GRCm39) |
L57Q |
probably 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 |
|
|
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 |
|
R8834:Gcc2
|
UTSW |
10 |
58,121,867 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TGTAACTAAACTGGAAGAGACACAC -3'
(R):5'- GCTGCAAAATCTCTGCTTGGAAAG -3'
Sequencing Primer
(F):5'- GAGACACACAAAGAGTTTGAACAATC -3'
(R):5'- GCCTTGTCCTCAATGACT -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation