Incidental Mutation 'R0179:Gcc2'
ID |
23051 |
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 |
038447-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R0179 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
10 |
Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58112472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 1001
(R1001C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124787
(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: R1037C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000054033 Gene: ENSMUSG00000038039 AA Change: R1037C
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: R64C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123873 Gene: ENSMUSG00000038039 AA Change: R64C
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: R1001C
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124787 Gene: ENSMUSG00000038039 AA Change: R1001C
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: R937C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000124152 Gene: ENSMUSG00000038039 AA Change: R937C
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
98% (81/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
C |
T |
16: 85,592,353 (GRCm39) |
S948N |
probably benign |
Het |
Adck1 |
A |
T |
12: 88,425,942 (GRCm39) |
M457L |
possibly damaging |
Het |
Adprm |
A |
T |
11: 66,929,051 (GRCm39) |
H313Q |
possibly damaging |
Het |
Adss1 |
T |
C |
12: 112,598,703 (GRCm39) |
I104T |
probably benign |
Het |
Agxt2 |
A |
C |
15: 10,399,134 (GRCm39) |
Q435P |
possibly damaging |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Ankrd50 |
A |
G |
3: 38,509,463 (GRCm39) |
V968A |
possibly damaging |
Het |
Brf2 |
T |
C |
8: 27,615,896 (GRCm39) |
D163G |
possibly damaging |
Het |
Cd226 |
C |
A |
18: 89,225,263 (GRCm39) |
N53K |
probably benign |
Het |
Cdc42ep2 |
T |
C |
19: 5,968,636 (GRCm39) |
D23G |
probably benign |
Het |
Cdc7 |
T |
C |
5: 107,112,905 (GRCm39) |
S8P |
probably benign |
Het |
Cdh8 |
C |
T |
8: 99,838,344 (GRCm39) |
E499K |
possibly damaging |
Het |
Chd7 |
T |
A |
4: 8,862,516 (GRCm39) |
F2534L |
probably benign |
Het |
Ckb |
T |
C |
12: 111,636,610 (GRCm39) |
T255A |
probably benign |
Het |
Cntnap5c |
G |
T |
17: 58,076,620 (GRCm39) |
W19L |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,057,871 (GRCm39) |
E1854G |
probably benign |
Het |
Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
Cop1 |
A |
G |
1: 159,077,636 (GRCm39) |
D157G |
probably benign |
Het |
Csf2rb |
A |
C |
15: 78,220,572 (GRCm39) |
Q38P |
possibly damaging |
Het |
Ctla2b |
T |
C |
13: 61,044,107 (GRCm39) |
D52G |
possibly damaging |
Het |
Dcaf7 |
A |
T |
11: 105,942,623 (GRCm39) |
D190V |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,058,918 (GRCm39) |
|
probably benign |
Het |
Dgkq |
A |
G |
5: 108,806,066 (GRCm39) |
|
probably benign |
Het |
Dhrs2 |
A |
G |
14: 55,477,933 (GRCm39) |
T222A |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
E4f1 |
G |
C |
17: 24,670,411 (GRCm39) |
T92S |
possibly damaging |
Het |
Ep400 |
A |
T |
5: 110,816,515 (GRCm39) |
S2669T |
probably damaging |
Het |
Eprs1 |
T |
G |
1: 185,145,744 (GRCm39) |
D1184E |
probably benign |
Het |
Fpr-rs4 |
A |
T |
17: 18,242,289 (GRCm39) |
K99* |
probably null |
Het |
Fzr1 |
A |
T |
10: 81,204,904 (GRCm39) |
|
probably benign |
Het |
Gm4884 |
A |
G |
7: 40,693,252 (GRCm39) |
D407G |
probably benign |
Het |
Golga4 |
A |
T |
9: 118,389,808 (GRCm39) |
|
probably null |
Het |
Gp2 |
T |
G |
7: 119,051,540 (GRCm39) |
D225A |
possibly damaging |
Het |
Gramd1a |
T |
A |
7: 30,841,843 (GRCm39) |
T120S |
probably damaging |
Het |
Hbb-bh2 |
T |
A |
7: 103,488,434 (GRCm39) |
N121I |
probably benign |
Het |
Htr6 |
A |
T |
4: 138,789,437 (GRCm39) |
L276Q |
probably damaging |
Het |
Itga9 |
A |
T |
9: 118,490,454 (GRCm39) |
I262F |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,805,096 (GRCm39) |
|
probably benign |
Het |
Large1 |
T |
C |
8: 73,825,474 (GRCm39) |
N200S |
probably benign |
Het |
Lct |
C |
T |
1: 128,255,422 (GRCm39) |
V207I |
probably benign |
Het |
Marf1 |
C |
A |
16: 13,969,040 (GRCm39) |
L144F |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,355,956 (GRCm39) |
Y605* |
probably null |
Het |
Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
Muc2 |
A |
G |
7: 141,302,708 (GRCm39) |
Y17C |
probably damaging |
Het |
Myf5 |
T |
C |
10: 107,321,779 (GRCm39) |
D5G |
possibly damaging |
Het |
Nasp |
C |
T |
4: 116,459,354 (GRCm39) |
V375M |
probably damaging |
Het |
Nr1h2 |
A |
T |
7: 44,201,689 (GRCm39) |
|
probably null |
Het |
Nrg2 |
T |
C |
18: 36,155,468 (GRCm39) |
Q447R |
probably benign |
Het |
Ntn5 |
G |
A |
7: 45,335,737 (GRCm39) |
G56D |
probably damaging |
Het |
Oasl2 |
A |
G |
5: 115,048,973 (GRCm39) |
R138G |
probably benign |
Het |
Or4c29 |
A |
T |
2: 88,740,237 (GRCm39) |
C167S |
possibly damaging |
Het |
Or5b124 |
T |
A |
19: 13,610,504 (GRCm39) |
F10I |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,207 (GRCm39) |
Y264C |
probably damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,455,612 (GRCm39) |
G664D |
probably damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,174,424 (GRCm39) |
E128G |
probably damaging |
Het |
Prpf19 |
T |
C |
19: 10,875,172 (GRCm39) |
|
probably benign |
Het |
Ptpn3 |
T |
A |
4: 57,270,118 (GRCm39) |
T15S |
probably benign |
Het |
R3hdm2 |
G |
A |
10: 127,330,975 (GRCm39) |
C818Y |
probably damaging |
Het |
Rad51d |
A |
G |
11: 82,780,824 (GRCm39) |
V39A |
possibly damaging |
Het |
Rptor |
A |
T |
11: 119,763,193 (GRCm39) |
T926S |
probably benign |
Het |
Rwdd4a |
G |
A |
8: 47,995,742 (GRCm39) |
D41N |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,972,214 (GRCm39) |
S516P |
probably benign |
Het |
Ssbp3 |
T |
C |
4: 106,903,585 (GRCm39) |
S334P |
probably damaging |
Het |
Suco |
A |
G |
1: 161,703,874 (GRCm39) |
|
probably benign |
Het |
Synj1 |
T |
C |
16: 90,761,519 (GRCm39) |
K649R |
possibly damaging |
Het |
Tdp2 |
C |
T |
13: 25,024,431 (GRCm39) |
H243Y |
possibly damaging |
Het |
Tinag |
A |
G |
9: 76,904,164 (GRCm39) |
|
probably benign |
Het |
Trerf1 |
T |
C |
17: 47,627,588 (GRCm39) |
|
noncoding transcript |
Het |
Trip10 |
T |
C |
17: 57,569,349 (GRCm39) |
|
probably benign |
Het |
Tsen54 |
A |
T |
11: 115,712,856 (GRCm39) |
S131C |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,523,828 (GRCm39) |
R794* |
probably null |
Het |
Vmn2r59 |
A |
T |
7: 41,696,432 (GRCm39) |
Y103* |
probably null |
Het |
Washc5 |
A |
G |
15: 59,224,379 (GRCm39) |
V460A |
probably benign |
Het |
Wdr87-ps |
A |
G |
7: 29,235,365 (GRCm39) |
|
noncoding transcript |
Het |
Whamm |
A |
G |
7: 81,243,763 (GRCm39) |
T358A |
probably benign |
Het |
Xlr4b |
C |
T |
X: 72,262,277 (GRCm39) |
|
probably benign |
Het |
Zbbx |
C |
T |
3: 74,992,869 (GRCm39) |
|
probably benign |
Het |
Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
Zfp27 |
T |
A |
7: 29,595,850 (GRCm39) |
E38D |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACGATGGCTTGATTCTATGTTCTGA -3'
(R):5'- ACTGTGggggctggagagatg -3'
Sequencing Primer
(F):5'- GTTCTGACCTAGTAAAGGCTTCATC -3'
(R):5'- ggactgaacctctgaacctg -3'
|
Posted On |
2013-04-16 |