Incidental Mutation 'R1725:Gcc2'
ID |
198085 |
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 |
039757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R1725 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58139937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 1629
(R1629H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000162041]
[ENSMUST00000162860]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057659
AA Change: R1665H
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000054033 Gene: ENSMUSG00000038039 AA Change: R1665H
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 |
possibly damaging
Transcript: ENSMUST00000162041
AA Change: R1629H
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124787 Gene: ENSMUSG00000038039 AA Change: R1629H
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 |
possibly damaging
Transcript: ENSMUST00000162860
AA Change: R1561H
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124152 Gene: ENSMUSG00000038039 AA Change: R1561H
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 |
noncoding transcript
Transcript: ENSMUST00000162965
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
A |
T |
16: 88,424,163 (GRCm39) |
F109L |
probably benign |
Het |
Aacs |
T |
C |
5: 125,559,999 (GRCm39) |
|
probably null |
Het |
Abcc6 |
C |
A |
7: 45,641,781 (GRCm39) |
D866Y |
possibly damaging |
Het |
Acox3 |
T |
C |
5: 35,749,516 (GRCm39) |
Y214H |
probably benign |
Het |
Acss2 |
A |
G |
2: 155,398,764 (GRCm39) |
T404A |
possibly damaging |
Het |
Adgrb3 |
T |
A |
1: 25,865,381 (GRCm39) |
E154V |
probably damaging |
Het |
Akap12 |
G |
A |
10: 4,303,942 (GRCm39) |
V251M |
probably damaging |
Het |
Ambp |
A |
T |
4: 63,062,513 (GRCm39) |
M242K |
possibly damaging |
Het |
Angptl7 |
T |
G |
4: 148,584,469 (GRCm39) |
Y93S |
probably damaging |
Het |
Apof |
A |
G |
10: 128,105,680 (GRCm39) |
|
probably benign |
Het |
Arv1 |
T |
C |
8: 125,455,191 (GRCm39) |
F135L |
probably damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Cacna1s |
C |
T |
1: 136,026,361 (GRCm39) |
T1116I |
probably damaging |
Het |
Ccdc91 |
A |
G |
6: 147,493,541 (GRCm39) |
E311G |
unknown |
Het |
Cenpf |
T |
C |
1: 189,412,676 (GRCm39) |
T196A |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,470,030 (GRCm39) |
S527T |
probably benign |
Het |
Csmd3 |
A |
C |
15: 47,460,203 (GRCm39) |
N3529K |
probably damaging |
Het |
Csnk2a1 |
T |
C |
2: 152,099,892 (GRCm39) |
V116A |
probably damaging |
Het |
Dhx36 |
T |
G |
3: 62,414,360 (GRCm39) |
M1L |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,203,759 (GRCm39) |
|
probably null |
Het |
Ephb2 |
G |
A |
4: 136,387,089 (GRCm39) |
Q714* |
probably null |
Het |
Eprs1 |
T |
A |
1: 185,139,189 (GRCm39) |
L858Q |
probably damaging |
Het |
Espl1 |
G |
T |
15: 102,221,656 (GRCm39) |
V982L |
probably benign |
Het |
Eya2 |
A |
G |
2: 165,566,605 (GRCm39) |
T219A |
probably benign |
Het |
Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
Fbxl18 |
C |
T |
5: 142,872,458 (GRCm39) |
R259H |
probably damaging |
Het |
Gje1 |
G |
A |
10: 14,592,168 (GRCm39) |
R205* |
probably null |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
Krt6a |
A |
T |
15: 101,600,992 (GRCm39) |
M268K |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,380,937 (GRCm39) |
S85T |
probably benign |
Het |
Loxl3 |
G |
A |
6: 83,012,574 (GRCm39) |
V38I |
probably benign |
Het |
Mill2 |
A |
G |
7: 18,573,993 (GRCm39) |
D26G |
probably benign |
Het |
Muc15 |
T |
C |
2: 110,561,591 (GRCm39) |
L9S |
probably damaging |
Het |
Nat8f4 |
G |
A |
6: 85,878,080 (GRCm39) |
R148* |
probably null |
Het |
Nav3 |
A |
T |
10: 109,659,451 (GRCm39) |
V722E |
probably damaging |
Het |
Nfkb1 |
C |
A |
3: 135,373,519 (GRCm39) |
G10W |
probably damaging |
Het |
Or10j5 |
C |
T |
1: 172,784,908 (GRCm39) |
P182L |
possibly damaging |
Het |
Or2ag1 |
A |
T |
7: 106,313,265 (GRCm39) |
F208I |
probably benign |
Het |
Or2t1 |
T |
G |
14: 14,328,977 (GRCm38) |
Y289D |
probably damaging |
Het |
Or5b120 |
T |
C |
19: 13,479,883 (GRCm39) |
Y59H |
probably damaging |
Het |
Pcdhb22 |
T |
A |
18: 37,653,241 (GRCm39) |
C313S |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,413,473 (GRCm39) |
L384P |
probably damaging |
Het |
Pm20d1 |
T |
C |
1: 131,743,796 (GRCm39) |
I487T |
probably damaging |
Het |
Prex1 |
A |
T |
2: 166,443,656 (GRCm39) |
D334E |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,161,936 (GRCm39) |
I189N |
possibly damaging |
Het |
Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
Rae1 |
A |
G |
2: 172,848,754 (GRCm39) |
I123M |
possibly damaging |
Het |
Sh3glb2 |
C |
A |
2: 30,240,679 (GRCm39) |
E129* |
probably null |
Het |
Simc1 |
T |
C |
13: 54,674,219 (GRCm39) |
S856P |
probably damaging |
Het |
Slc19a1 |
T |
A |
10: 76,877,672 (GRCm39) |
M69K |
probably benign |
Het |
Slc30a8 |
A |
T |
15: 52,197,000 (GRCm39) |
I304F |
possibly damaging |
Het |
Snx1 |
A |
G |
9: 66,005,611 (GRCm39) |
|
probably null |
Het |
Spmip5 |
T |
G |
19: 58,781,194 (GRCm39) |
K10T |
probably benign |
Het |
Stx18 |
G |
A |
5: 38,292,599 (GRCm39) |
V234M |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,923,281 (GRCm39) |
T615A |
probably damaging |
Het |
Sult3a2 |
T |
A |
10: 33,655,705 (GRCm39) |
K91N |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,650,256 (GRCm39) |
S22P |
probably damaging |
Het |
Tmc3 |
T |
C |
7: 83,253,940 (GRCm39) |
V362A |
probably damaging |
Het |
Trim16 |
A |
C |
11: 62,711,331 (GRCm39) |
M1L |
possibly damaging |
Het |
Trp53bp1 |
C |
T |
2: 121,082,481 (GRCm39) |
V10I |
possibly damaging |
Het |
Ttc12 |
T |
G |
9: 49,369,415 (GRCm39) |
D235A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,692,727 (GRCm39) |
R452G |
possibly damaging |
Het |
Ugt2b38 |
A |
T |
5: 87,559,730 (GRCm39) |
H387Q |
probably damaging |
Het |
Usp48 |
T |
A |
4: 137,360,733 (GRCm39) |
L20* |
probably null |
Het |
Utrn |
T |
C |
10: 12,539,263 (GRCm39) |
D1918G |
probably damaging |
Het |
Vmn1r158 |
A |
G |
7: 22,490,072 (GRCm39) |
S46P |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,149,397 (GRCm39) |
W262R |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,869,830 (GRCm39) |
S1917T |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,528,120 (GRCm39) |
N158D |
probably benign |
Het |
Vwf |
G |
A |
6: 125,623,245 (GRCm39) |
V1781I |
probably benign |
Het |
Wrap73 |
T |
C |
4: 154,233,209 (GRCm39) |
Y128H |
possibly damaging |
Het |
Zfp472 |
A |
G |
17: 33,196,311 (GRCm39) |
K129E |
possibly damaging |
Het |
Zscan18 |
A |
T |
7: 12,504,784 (GRCm39) |
L611Q |
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 |
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'- GATACCTGTCACACCAAGCTTCCTC -3'
(R):5'- GGGTTCCAAGTGCAGGAATGAACTG -3'
Sequencing Primer
(F):5'- tctgacgcccgcttctg -3'
(R):5'- GCAGGAATGAACTGTTTCCTC -3'
|
Posted On |
2014-05-23 |