Incidental Mutation 'R1606:Gcc2'
| ID |
176496 |
| 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 |
039643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R1606 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58105270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 69
(L69F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000160427]
[ENSMUST00000162041]
[ENSMUST00000162860]
[ENSMUST00000162984]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057659
AA Change: L169F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: L169F
| 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: 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 damaging
Transcript: ENSMUST00000162041
AA Change: L133F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: L133F
| 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 damaging
Transcript: ENSMUST00000162860
AA Change: L69F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: L69F
| 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: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,825,091 (GRCm39) |
D1459G |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,623,698 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
T |
15: 80,836,425 (GRCm39) |
Q61* |
probably null |
Het |
| Arhgap26 |
T |
A |
18: 39,429,925 (GRCm39) |
C214S |
probably damaging |
Het |
| Armc8 |
A |
T |
9: 99,419,782 (GRCm39) |
N9K |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,375 (GRCm39) |
D975G |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 36,996,548 (GRCm39) |
D1087N |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,710 (GRCm39) |
S42P |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,630,820 (GRCm39) |
L198P |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,317,406 (GRCm39) |
V423A |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,492,511 (GRCm39) |
S696P |
probably benign |
Het |
| Echdc3 |
A |
T |
2: 6,200,438 (GRCm39) |
C183S |
possibly damaging |
Het |
| Exph5 |
A |
C |
9: 53,285,595 (GRCm39) |
D892A |
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,622,073 (GRCm39) |
I17K |
possibly damaging |
Het |
| Fbln5 |
C |
T |
12: 101,731,457 (GRCm39) |
D246N |
probably benign |
Het |
| Fbxo15 |
A |
C |
18: 84,980,745 (GRCm39) |
K195T |
possibly damaging |
Het |
| Fzd1 |
C |
A |
5: 4,807,514 (GRCm39) |
E23* |
probably null |
Het |
| Gas2l1 |
C |
A |
11: 5,014,434 (GRCm39) |
A9S |
probably damaging |
Het |
| Ggt6 |
C |
T |
11: 72,328,559 (GRCm39) |
A353V |
possibly damaging |
Het |
| Gphn |
T |
A |
12: 78,730,657 (GRCm39) |
V764E |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,167,922 (GRCm39) |
Y482F |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Ifit1bl1 |
C |
T |
19: 34,571,444 (GRCm39) |
V338M |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,698,589 (GRCm39) |
Q408L |
possibly damaging |
Het |
| Lacc1 |
T |
A |
14: 77,267,081 (GRCm39) |
Q394L |
probably benign |
Het |
| Lcor |
T |
G |
19: 41,573,513 (GRCm39) |
M756R |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,087,569 (GRCm39) |
F477L |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,387,423 (GRCm39) |
|
probably null |
Het |
| Megf8 |
T |
A |
7: 25,058,120 (GRCm39) |
H2131Q |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,577,310 (GRCm39) |
D1097G |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,366,078 (GRCm39) |
Y138* |
probably null |
Het |
| Nudcd2 |
T |
A |
11: 40,626,834 (GRCm39) |
|
probably null |
Het |
| Numb |
T |
C |
12: 83,847,784 (GRCm39) |
|
probably null |
Het |
| Or7h8 |
T |
G |
9: 20,124,242 (GRCm39) |
L199R |
probably benign |
Het |
| Pacrg |
G |
A |
17: 11,058,725 (GRCm39) |
Q11* |
probably null |
Het |
| Ppp1r37 |
A |
T |
7: 19,268,924 (GRCm39) |
M192K |
probably damaging |
Het |
| Prmt8 |
T |
A |
6: 127,666,799 (GRCm39) |
K392* |
probably null |
Het |
| Rab28 |
A |
T |
5: 41,855,795 (GRCm39) |
W67R |
probably damaging |
Het |
| Rad21l |
C |
T |
2: 151,496,606 (GRCm39) |
C365Y |
probably damaging |
Het |
| Rbm17 |
A |
T |
2: 11,600,208 (GRCm39) |
F147I |
probably benign |
Het |
| Rbm46 |
A |
C |
3: 82,771,848 (GRCm39) |
F256V |
probably damaging |
Het |
| Rcc1 |
A |
T |
4: 132,062,087 (GRCm39) |
|
probably null |
Het |
| Rnf217 |
G |
T |
10: 31,410,807 (GRCm39) |
T296N |
possibly damaging |
Het |
| Rnmt |
A |
G |
18: 68,444,724 (GRCm39) |
D231G |
possibly damaging |
Het |
| Rph3al |
C |
T |
11: 75,797,367 (GRCm39) |
V110I |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,983,362 (GRCm39) |
M289T |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,605,721 (GRCm39) |
R890G |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,338,026 (GRCm39) |
D245E |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,246,398 (GRCm39) |
V238E |
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,857,455 (GRCm39) |
D896V |
possibly damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,135,323 (GRCm39) |
K330* |
probably null |
Het |
| Slco1a4 |
G |
T |
6: 141,785,337 (GRCm39) |
H84Q |
probably damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,800,270 (GRCm39) |
|
probably null |
Het |
| St6galnac3 |
A |
T |
3: 152,912,305 (GRCm39) |
D227E |
probably benign |
Het |
| Tek |
G |
A |
4: 94,738,004 (GRCm39) |
D685N |
probably damaging |
Het |
| Trf |
G |
T |
9: 103,102,335 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
T |
A |
7: 142,638,908 (GRCm39) |
K288* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,567,356 (GRCm39) |
V27846I |
probably damaging |
Het |
| Tyr |
A |
T |
7: 87,087,179 (GRCm39) |
D444E |
probably benign |
Het |
| Ucp1 |
C |
A |
8: 84,021,933 (GRCm39) |
A255E |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,491,963 (GRCm39) |
D3084G |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,053,344 (GRCm39) |
Y139C |
probably damaging |
Het |
| Zbtb6 |
A |
G |
2: 37,319,130 (GRCm39) |
V266A |
probably benign |
Het |
| Zfp784 |
A |
T |
7: 5,038,774 (GRCm39) |
N261K |
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 |
|
|
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 |
|
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'- CCAGTAGTAGAATGTTTGCCTGTGTGT -3'
(R):5'- GCTGAGCCTTGTCCTCAATGACTTT -3'
Sequencing Primer
(F):5'- CAGAGGTTTCCAAGTTGTTAGTTAC -3'
(R):5'- TTCTGGAGATGAATAATCTCTTGTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation