Incidental Mutation 'R7543:Gcc2'
ID |
584021 |
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 |
045615-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R7543 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58107086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 774
(I774K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054033
(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: I774K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000054033 Gene: ENSMUSG00000038039 AA Change: I774K
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 |
probably benign
Transcript: ENSMUST00000162041
AA Change: I738K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000124787 Gene: ENSMUSG00000038039 AA Change: I738K
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: I674K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000124152 Gene: ENSMUSG00000038039 AA Change: I674K
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (71/71) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
A |
5: 125,559,920 (GRCm39) |
S54T |
probably damaging |
Het |
Acsl5 |
G |
A |
19: 55,266,615 (GRCm39) |
V59I |
|
Het |
Acss2 |
A |
T |
2: 155,391,755 (GRCm39) |
I203F |
probably damaging |
Het |
Add2 |
A |
G |
6: 86,083,207 (GRCm39) |
N435S |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,889,972 (GRCm39) |
D88G |
probably benign |
Het |
Ajm1 |
C |
A |
2: 25,467,410 (GRCm39) |
A834S |
possibly damaging |
Het |
Ank3 |
C |
T |
10: 69,786,846 (GRCm39) |
T970M |
possibly damaging |
Het |
Ap3b2 |
A |
T |
7: 81,115,894 (GRCm39) |
|
probably null |
Het |
Apc2 |
A |
G |
10: 80,150,720 (GRCm39) |
K1925E |
possibly damaging |
Het |
Aspscr1 |
A |
G |
11: 120,600,249 (GRCm39) |
N130D |
unknown |
Het |
B3glct |
A |
G |
5: 149,677,604 (GRCm39) |
D411G |
probably damaging |
Het |
Bard1 |
T |
C |
1: 71,114,589 (GRCm39) |
K131E |
probably damaging |
Het |
Bche |
T |
C |
3: 73,609,066 (GRCm39) |
D120G |
probably damaging |
Het |
Brms1l |
A |
T |
12: 55,914,997 (GRCm39) |
D302V |
probably damaging |
Het |
Ccdc191 |
T |
A |
16: 43,718,572 (GRCm39) |
Y56* |
probably null |
Het |
Cela3a |
T |
A |
4: 137,129,883 (GRCm39) |
H246L |
probably damaging |
Het |
Col11a2 |
A |
T |
17: 34,269,430 (GRCm39) |
D440V |
unknown |
Het |
Cplane1 |
T |
C |
15: 8,254,876 (GRCm39) |
I21T |
unknown |
Het |
Dag1 |
C |
T |
9: 108,095,280 (GRCm39) |
V71I |
probably benign |
Het |
Ddx23 |
A |
G |
15: 98,556,139 (GRCm39) |
S60P |
unknown |
Het |
Dync1h1 |
G |
T |
12: 110,580,541 (GRCm39) |
R134L |
probably benign |
Het |
Dync1i1 |
T |
C |
6: 5,784,464 (GRCm39) |
S103P |
possibly damaging |
Het |
Erap1 |
T |
A |
13: 74,822,753 (GRCm39) |
D755E |
probably damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,669 (GRCm39) |
T221A |
probably benign |
Het |
Fbxo4 |
T |
C |
15: 4,007,385 (GRCm39) |
D93G |
probably damaging |
Het |
Fzd5 |
A |
G |
1: 64,774,999 (GRCm39) |
V254A |
probably damaging |
Het |
Gbp3 |
T |
C |
3: 142,272,341 (GRCm39) |
V281A |
probably damaging |
Het |
Gpr132 |
A |
C |
12: 112,815,822 (GRCm39) |
C335G |
probably benign |
Het |
Gpr162 |
G |
T |
6: 124,838,355 (GRCm39) |
Y98* |
probably null |
Het |
H2-T24 |
T |
C |
17: 36,325,743 (GRCm39) |
T283A |
possibly damaging |
Het |
Hoxc6 |
A |
G |
15: 102,918,186 (GRCm39) |
Y50C |
probably damaging |
Het |
Il4i1 |
A |
G |
7: 44,486,199 (GRCm39) |
N53S |
possibly damaging |
Het |
Iqcf3 |
T |
C |
9: 106,431,425 (GRCm39) |
K60R |
possibly damaging |
Het |
Kif24 |
A |
T |
4: 41,413,993 (GRCm39) |
Y316* |
probably null |
Het |
Krt18 |
A |
G |
15: 101,939,896 (GRCm39) |
K365E |
probably damaging |
Het |
Lrguk |
T |
A |
6: 34,025,870 (GRCm39) |
L222* |
probably null |
Het |
Mbd1 |
T |
G |
18: 74,407,520 (GRCm39) |
V210G |
probably damaging |
Het |
Ms4a6b |
A |
G |
19: 11,499,155 (GRCm39) |
I90V |
not run |
Het |
Muc16 |
A |
G |
9: 18,556,028 (GRCm39) |
S3422P |
unknown |
Het |
Mynn |
G |
A |
3: 30,661,188 (GRCm39) |
W90* |
probably null |
Het |
Or5p5 |
T |
A |
7: 107,414,308 (GRCm39) |
N172K |
probably damaging |
Het |
Pdpr |
T |
A |
8: 111,859,520 (GRCm39) |
H687Q |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,814,227 (GRCm39) |
E4199G |
probably damaging |
Het |
Plekhg5 |
A |
G |
4: 152,192,491 (GRCm39) |
E517G |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,299,837 (GRCm39) |
D1644G |
probably damaging |
Het |
Pon1 |
C |
T |
6: 5,168,400 (GRCm39) |
V336M |
possibly damaging |
Het |
Pop1 |
T |
A |
15: 34,530,593 (GRCm39) |
L1027Q |
probably damaging |
Het |
Pramel1 |
T |
C |
4: 143,124,993 (GRCm39) |
S306P |
probably damaging |
Het |
Prpsap2 |
A |
T |
11: 61,635,797 (GRCm39) |
F168I |
possibly damaging |
Het |
Rabgap1 |
T |
A |
2: 37,359,444 (GRCm39) |
D2E |
probably damaging |
Het |
Rgmb |
A |
T |
17: 16,027,777 (GRCm39) |
L314Q |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,653,317 (GRCm39) |
|
probably null |
Het |
Samd4b |
A |
T |
7: 28,113,711 (GRCm39) |
S85T |
probably benign |
Het |
Sfrp5 |
T |
C |
19: 42,187,302 (GRCm39) |
D256G |
possibly damaging |
Het |
Slc25a23 |
A |
G |
17: 57,365,106 (GRCm39) |
|
probably null |
Het |
Sox5 |
A |
G |
6: 143,786,905 (GRCm39) |
I589T |
probably damaging |
Het |
Sybu |
T |
A |
15: 44,546,848 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 75,953,616 (GRCm39) |
E515G |
possibly damaging |
Het |
Tbc1d17 |
G |
A |
7: 44,495,503 (GRCm39) |
A107V |
probably benign |
Het |
Tcstv2c |
A |
C |
13: 120,616,290 (GRCm39) |
E43A |
probably damaging |
Het |
Tex50 |
G |
T |
1: 160,984,817 (GRCm39) |
T141K |
possibly damaging |
Het |
Tmc7 |
A |
G |
7: 118,144,979 (GRCm39) |
L527P |
probably benign |
Het |
Tns4 |
T |
A |
11: 98,963,079 (GRCm39) |
D547V |
probably benign |
Het |
Topors |
A |
G |
4: 40,268,312 (GRCm39) |
S65P |
probably damaging |
Het |
Trdc |
T |
A |
14: 54,381,692 (GRCm39) |
S126T |
|
Het |
Ttc27 |
A |
T |
17: 75,024,745 (GRCm39) |
|
probably benign |
Het |
Wdfy3 |
A |
C |
5: 102,083,925 (GRCm39) |
I787S |
probably benign |
Het |
Zc3h11a |
T |
C |
1: 133,554,768 (GRCm39) |
D404G |
possibly damaging |
Het |
Zfp799 |
A |
G |
17: 33,039,534 (GRCm39) |
I244T |
probably benign |
Het |
Zfp93 |
A |
G |
7: 23,974,533 (GRCm39) |
T173A |
probably benign |
Het |
Zfp953 |
T |
A |
13: 67,495,953 (GRCm39) |
L29F |
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 |
|
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 |
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'- TGCCCATAAAGAACATGTTGC -3'
(R):5'- GCCTCTTTTGCTGATGTGAC -3'
Sequencing Primer
(F):5'- GTTGCTGAATTCGAAAAGAAACTCC -3'
(R):5'- GCTGATGTGACTGCATCTAATTC -3'
|
Posted On |
2019-10-17 |