Incidental Mutation 'IGL01642:Gcc2'
| ID |
93715 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gcc2
|
| Ensembl Gene |
ENSMUSG00000038039 |
| Gene Name |
GRIP and coiled-coil domain containing 2 |
| Synonyms |
0610043A03Rik, 2210420P05Rik, 2600014C01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL01642
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58116434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1014
(N1014K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000160416]
[ENSMUST00000162041]
[ENSMUST00000162860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057659
AA Change: N1114K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: N1114K
| 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
AA Change: N141K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123873
Gene: ENSMUSG00000038039
AA Change: N141K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160677
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162041
AA Change: N1078K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: N1078K
| 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: N1014K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: N1014K
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
G |
11: 116,486,514 (GRCm39) |
T18A |
possibly damaging |
Het |
| Abat |
A |
T |
16: 8,418,783 (GRCm39) |
I126F |
possibly damaging |
Het |
| Adcy6 |
G |
A |
15: 98,492,390 (GRCm39) |
A958V |
possibly damaging |
Het |
| Ago2 |
T |
C |
15: 72,995,239 (GRCm39) |
I447V |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,409,155 (GRCm39) |
V1784A |
unknown |
Het |
| Atp1b1 |
A |
G |
1: 164,285,330 (GRCm39) |
F33L |
probably benign |
Het |
| Bpnt1 |
G |
A |
1: 185,086,238 (GRCm39) |
V198I |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,801,265 (GRCm39) |
I794N |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
| Cgas |
G |
A |
9: 78,344,680 (GRCm39) |
P247L |
probably damaging |
Het |
| Clip3 |
G |
A |
7: 29,998,287 (GRCm39) |
M244I |
probably benign |
Het |
| Clip3 |
A |
T |
7: 29,996,494 (GRCm39) |
|
probably benign |
Het |
| Cyp2a22 |
A |
T |
7: 26,638,184 (GRCm39) |
N107K |
possibly damaging |
Het |
| Cyp2c23 |
A |
T |
19: 43,993,995 (GRCm39) |
L457Q |
probably damaging |
Het |
| Dbr1 |
A |
G |
9: 99,458,031 (GRCm39) |
Y17C |
probably damaging |
Het |
| Drc7 |
G |
A |
8: 95,785,767 (GRCm39) |
V208I |
probably benign |
Het |
| Dst |
T |
A |
1: 34,228,470 (GRCm39) |
L2021Q |
probably damaging |
Het |
| E2f4 |
C |
A |
8: 106,027,968 (GRCm39) |
P299T |
probably damaging |
Het |
| Eef1b2 |
T |
C |
1: 63,216,990 (GRCm39) |
L53P |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,674,167 (GRCm39) |
T378A |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,223,670 (GRCm39) |
N302S |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,943,112 (GRCm39) |
V362M |
probably benign |
Het |
| Gm3099 |
T |
A |
14: 15,346,476 (GRCm39) |
M114K |
possibly damaging |
Het |
| Gnptab |
C |
T |
10: 88,271,994 (GRCm39) |
T928I |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,158,083 (GRCm39) |
R31* |
probably null |
Het |
| Impdh1 |
T |
C |
6: 29,207,165 (GRCm39) |
T60A |
possibly damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,221,256 (GRCm39) |
E191G |
probably benign |
Het |
| Kcnh5 |
A |
G |
12: 75,011,943 (GRCm39) |
S659P |
probably damaging |
Het |
| Kl |
T |
C |
5: 150,904,334 (GRCm39) |
I362T |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 68,993,117 (GRCm39) |
V414A |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,663,605 (GRCm39) |
P1111S |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,558 (GRCm39) |
D1965G |
probably benign |
Het |
| Nadsyn1 |
G |
A |
7: 143,351,615 (GRCm39) |
P673S |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,445 (GRCm39) |
S864P |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,658 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,706,029 (GRCm39) |
I13N |
possibly damaging |
Het |
| Or2f1 |
G |
T |
6: 42,721,486 (GRCm39) |
V172L |
probably benign |
Het |
| Paics |
T |
A |
5: 77,109,357 (GRCm39) |
|
probably benign |
Het |
| Papss1 |
G |
T |
3: 131,288,996 (GRCm39) |
|
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,173,300 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
T |
G |
8: 125,110,941 (GRCm39) |
Q159P |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,800,266 (GRCm39) |
Y3009C |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,111,117 (GRCm39) |
T161A |
probably damaging |
Het |
| Podxl2 |
T |
A |
6: 88,820,529 (GRCm39) |
Y521F |
probably damaging |
Het |
| Pramel34 |
A |
G |
5: 93,784,154 (GRCm39) |
Y437H |
possibly damaging |
Het |
| Prmt2 |
C |
T |
10: 76,058,327 (GRCm39) |
G161S |
probably damaging |
Het |
| Rft1 |
C |
T |
14: 30,398,825 (GRCm39) |
T265I |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,321,192 (GRCm39) |
L736M |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,198,034 (GRCm39) |
A747T |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,349,519 (GRCm39) |
K427E |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,845,357 (GRCm39) |
D424E |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,937,488 (GRCm39) |
T3826A |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,993,813 (GRCm39) |
Y233H |
probably damaging |
Het |
| Ubl4b |
C |
A |
3: 107,462,147 (GRCm39) |
E38* |
probably null |
Het |
| Usp5 |
A |
T |
6: 124,797,416 (GRCm39) |
I486N |
probably damaging |
Het |
| Vmn1r193 |
A |
C |
13: 22,403,794 (GRCm39) |
L66R |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,792,218 (GRCm39) |
I2162T |
probably benign |
Het |
| Wipf2 |
T |
C |
11: 98,781,650 (GRCm39) |
V63A |
probably benign |
Het |
| Zfp735 |
G |
T |
11: 73,601,305 (GRCm39) |
C83F |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,308,348 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation