Incidental Mutation 'R1569:Gcc2'
ID |
177127 |
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 |
039608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R1569 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58105993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 310
(L310F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000160416]
[ENSMUST00000160427]
[ENSMUST00000162041]
[ENSMUST00000162860]
[ENSMUST00000162984]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057659
AA Change: L410F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000054033 Gene: ENSMUSG00000038039 AA Change: L410F
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: 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: L374F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124787 Gene: ENSMUSG00000038039 AA Change: L374F
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: L310F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124152 Gene: ENSMUSG00000038039 AA Change: L310F
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
Validation Efficiency |
96% (72/75) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,056,427 (GRCm39) |
K166* |
probably null |
Het |
Abca2 |
T |
A |
2: 25,329,197 (GRCm39) |
N1012K |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,981,458 (GRCm39) |
V914A |
possibly damaging |
Het |
Akap1 |
T |
A |
11: 88,724,006 (GRCm39) |
M833L |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,823,188 (GRCm39) |
H249Q |
probably benign |
Het |
Atp6v0a4 |
A |
G |
6: 38,027,560 (GRCm39) |
V750A |
probably damaging |
Het |
Car6 |
T |
C |
4: 150,285,499 (GRCm39) |
Y23C |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,706,267 (GRCm39) |
T917A |
probably damaging |
Het |
Clmn |
C |
A |
12: 104,747,340 (GRCm39) |
D736Y |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dennd4c |
G |
A |
4: 86,704,331 (GRCm39) |
R282H |
possibly damaging |
Het |
Dsg1b |
T |
A |
18: 20,529,537 (GRCm39) |
N327K |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,745,597 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
G |
T |
10: 128,354,863 (GRCm39) |
S512R |
possibly damaging |
Het |
Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
Fbxl5 |
A |
T |
5: 43,922,803 (GRCm39) |
I205K |
probably damaging |
Het |
Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
Gabpb1 |
A |
T |
2: 126,494,171 (GRCm39) |
D151E |
probably benign |
Het |
Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
Htr1b |
A |
G |
9: 81,514,340 (GRCm39) |
V89A |
probably benign |
Het |
Ibsp |
A |
T |
5: 104,458,017 (GRCm39) |
T185S |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,896,771 (GRCm39) |
D1265G |
probably benign |
Het |
Ints9 |
T |
C |
14: 65,217,571 (GRCm39) |
Y33H |
possibly damaging |
Het |
Kif1a |
A |
T |
1: 92,986,532 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
T |
17: 68,087,613 (GRCm39) |
|
probably null |
Het |
Lbp |
A |
T |
2: 158,161,607 (GRCm39) |
D223V |
probably damaging |
Het |
Lck |
C |
A |
4: 129,449,449 (GRCm39) |
D283Y |
probably damaging |
Het |
Lcmt2 |
A |
G |
2: 120,970,309 (GRCm39) |
F258S |
probably damaging |
Het |
Lsg1 |
G |
T |
16: 30,399,823 (GRCm39) |
|
probably null |
Het |
Maip1 |
T |
C |
1: 57,452,554 (GRCm39) |
|
probably benign |
Het |
Mark3 |
T |
G |
12: 111,600,180 (GRCm39) |
I465S |
probably benign |
Het |
Marveld2 |
C |
T |
13: 100,737,506 (GRCm39) |
V128I |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,319,022 (GRCm39) |
H750R |
possibly damaging |
Het |
Mdn1 |
A |
T |
4: 32,723,501 (GRCm39) |
Q2479L |
probably null |
Het |
Met |
A |
T |
6: 17,531,503 (GRCm39) |
K594* |
probably null |
Het |
Pak2 |
G |
T |
16: 31,856,113 (GRCm39) |
S241R |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,162,410 (GRCm39) |
I1368V |
possibly damaging |
Het |
Pparg |
T |
C |
6: 115,416,960 (GRCm39) |
I51T |
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,179,595 (GRCm39) |
E62G |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,152,475 (GRCm39) |
S86G |
possibly damaging |
Het |
Rabgap1l |
A |
T |
1: 160,529,960 (GRCm39) |
I347K |
probably benign |
Het |
Rdh1 |
A |
T |
10: 127,598,941 (GRCm39) |
M141L |
probably benign |
Het |
Rfx2 |
A |
T |
17: 57,111,326 (GRCm39) |
I82N |
possibly damaging |
Het |
Sh2b2 |
G |
A |
5: 136,260,589 (GRCm39) |
A209V |
possibly damaging |
Het |
Sh3d19 |
G |
A |
3: 86,033,951 (GRCm39) |
R768H |
possibly damaging |
Het |
Sh3rf1 |
C |
T |
8: 61,837,896 (GRCm39) |
P814S |
probably damaging |
Het |
Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
T |
C |
16: 36,576,745 (GRCm39) |
T430A |
probably benign |
Het |
Slc17a3 |
A |
T |
13: 24,039,591 (GRCm39) |
I250F |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spg11 |
A |
G |
2: 121,932,187 (GRCm39) |
S552P |
probably damaging |
Het |
Srpk2 |
A |
G |
5: 23,719,024 (GRCm39) |
I597T |
probably damaging |
Het |
St6galnac1 |
T |
G |
11: 116,660,097 (GRCm39) |
N72T |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,911,321 (GRCm39) |
|
probably null |
Het |
Tmem208 |
T |
A |
8: 106,061,462 (GRCm39) |
C163S |
possibly damaging |
Het |
Tpte |
T |
C |
8: 22,835,047 (GRCm39) |
V401A |
probably damaging |
Het |
Trhde |
A |
G |
10: 114,282,093 (GRCm39) |
W795R |
possibly damaging |
Het |
Trpm3 |
G |
A |
19: 22,866,809 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,626,063 (GRCm39) |
T14999S |
possibly damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,921 (GRCm39) |
N85K |
probably benign |
Het |
Yes1 |
A |
G |
5: 32,810,507 (GRCm39) |
Y192C |
probably damaging |
Het |
Zan |
A |
G |
5: 137,427,392 (GRCm39) |
V2415A |
unknown |
Het |
Zfp410 |
T |
A |
12: 84,379,726 (GRCm39) |
C311S |
probably damaging |
Het |
Zfp51 |
A |
T |
17: 21,676,642 (GRCm39) |
M38L |
probably benign |
Het |
Zfp560 |
A |
T |
9: 20,260,011 (GRCm39) |
C284S |
possibly damaging |
Het |
Zfp808 |
C |
T |
13: 62,320,714 (GRCm39) |
R648* |
probably null |
Het |
Zfp976 |
G |
T |
7: 42,262,806 (GRCm39) |
H344N |
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 |
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 |
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'- GGCCTTACAGGAAGATCCTTCTGC -3'
(R):5'- GCTCATGAACATCAGATGCTTGCTG -3'
Sequencing Primer
(F):5'- CTGCGGAACAAACAGTATGTG -3'
(R):5'- ATTTTTCCAGCAGATTCTCCAAG -3'
|
Posted On |
2014-04-24 |