Incidental Mutation 'R5974:Gcc2'
| ID |
501690 |
| 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 |
044157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R5974 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58094065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 14
(L14I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124787
(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: L50I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: L50I
| 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: ENSMUST00000160427
AA Change: L14I
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124411
Gene: ENSMUSG00000038039
AA Change: L14I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
32 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161570
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162041
AA Change: L14I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: L14I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
| 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 |
unknown
Transcript: ENSMUST00000162984
AA Change: I47N
|
| SMART Domains |
Protein: ENSMUSP00000124988
Gene: ENSMUSG00000038039
AA Change: I47N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 53,002,742 (GRCm39) |
L261P |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,499,317 (GRCm39) |
Y10C |
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,029,662 (GRCm39) |
N133K |
probably benign |
Het |
| Clip4 |
A |
T |
17: 72,138,242 (GRCm39) |
H433L |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,183,480 (GRCm39) |
M62K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,589,409 (GRCm39) |
S1049P |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,258,683 (GRCm39) |
T358I |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,449,753 (GRCm39) |
D645E |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,817,067 (GRCm39) |
W585L |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,451,259 (GRCm39) |
E114* |
probably null |
Het |
| Daam2 |
T |
A |
17: 49,771,501 (GRCm39) |
S882C |
probably damaging |
Het |
| Des |
T |
A |
1: 75,339,628 (GRCm39) |
S329T |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,313,290 (GRCm39) |
D994G |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,871,261 (GRCm39) |
V547A |
probably damaging |
Het |
| Ebf4 |
G |
A |
2: 130,207,484 (GRCm39) |
A643T |
probably damaging |
Het |
| Ect2 |
C |
A |
3: 27,199,112 (GRCm39) |
E194* |
probably null |
Het |
| Epb41l2 |
A |
G |
10: 25,317,713 (GRCm39) |
I77V |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,917,824 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
G |
18: 58,181,992 (GRCm39) |
D1803A |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,040,631 (GRCm39) |
E858G |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,912 (GRCm39) |
R284Q |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,793,657 (GRCm39) |
I425N |
possibly damaging |
Het |
| Fut9 |
A |
C |
4: 25,620,090 (GRCm39) |
Y241* |
probably null |
Het |
| Galr2 |
A |
G |
11: 116,173,852 (GRCm39) |
S161G |
possibly damaging |
Het |
| H2-T15 |
A |
T |
17: 36,367,677 (GRCm39) |
D220E |
probably benign |
Het |
| Hdac11 |
G |
A |
6: 91,150,196 (GRCm39) |
V332I |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,699,953 (GRCm39) |
|
probably null |
Het |
| Kif16b |
C |
T |
2: 142,699,301 (GRCm39) |
G93D |
probably damaging |
Het |
| Krtap11-1 |
C |
A |
16: 89,367,656 (GRCm39) |
C121F |
possibly damaging |
Het |
| Lacc1 |
T |
C |
14: 77,272,517 (GRCm39) |
Q93R |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,080,722 (GRCm39) |
F1250S |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,172,202 (GRCm39) |
E332G |
probably benign |
Het |
| Lrp2 |
C |
A |
2: 69,289,892 (GRCm39) |
C3649F |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,134,857 (GRCm39) |
V1653A |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,379,653 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,650,920 (GRCm39) |
|
probably null |
Het |
| Negr1 |
T |
A |
3: 156,774,923 (GRCm39) |
V213E |
probably damaging |
Het |
| Nlk |
T |
G |
11: 78,481,792 (GRCm39) |
Q223P |
probably benign |
Het |
| Ntn5 |
A |
G |
7: 45,340,848 (GRCm39) |
H162R |
probably damaging |
Het |
| Nup42 |
T |
C |
5: 24,372,400 (GRCm39) |
S63P |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,967,373 (GRCm39) |
D477Y |
probably damaging |
Het |
| Or12d12 |
A |
T |
17: 37,611,229 (GRCm39) |
I28N |
possibly damaging |
Het |
| Or5an1 |
T |
C |
19: 12,261,200 (GRCm39) |
S263P |
probably damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,225 (GRCm39) |
S299G |
probably benign |
Het |
| Pabpn1 |
A |
G |
14: 55,134,617 (GRCm39) |
T280A |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,127,194 (GRCm39) |
V109E |
possibly damaging |
Het |
| Pira2 |
A |
C |
7: 3,844,576 (GRCm39) |
V485G |
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,847,618 (GRCm39) |
L133P |
probably damaging |
Het |
| Pros1 |
A |
C |
16: 62,721,030 (GRCm39) |
N195T |
probably damaging |
Het |
| Rffl |
T |
C |
11: 82,696,977 (GRCm39) |
K289E |
probably damaging |
Het |
| Ripk1 |
T |
A |
13: 34,214,084 (GRCm39) |
Y475* |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,729,397 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
T |
A |
10: 21,872,148 (GRCm39) |
N241K |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,876,516 (GRCm39) |
S146T |
probably benign |
Het |
| Sox30 |
G |
T |
11: 45,871,900 (GRCm39) |
D252Y |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,182,012 (GRCm39) |
Y1002C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,465,084 (GRCm39) |
D271G |
possibly damaging |
Het |
| Ticam1 |
T |
C |
17: 56,578,178 (GRCm39) |
T306A |
probably benign |
Het |
| Tmem252 |
A |
G |
19: 24,651,632 (GRCm39) |
E67G |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,904,681 (GRCm39) |
F1149V |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,148,389 (GRCm39) |
|
probably null |
Het |
| Unc50 |
A |
G |
1: 37,476,290 (GRCm39) |
D150G |
probably benign |
Het |
| Ywhag |
A |
C |
5: 135,940,483 (GRCm39) |
L37R |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,311,862 (GRCm39) |
L123P |
probably benign |
Het |
| Zfp418 |
G |
T |
7: 7,185,199 (GRCm39) |
Q387H |
possibly damaging |
Het |
| Zfp882 |
T |
C |
8: 72,666,999 (GRCm39) |
F53L |
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 |
|
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'- TCATGTGCACTAAAGCAGGG -3'
(R):5'- GCTAAACCAAGGCCAGTGATG -3'
Sequencing Primer
(F):5'- AAGGTAGGCCGCTCTTCCAAAG -3'
(R):5'- CCAAGGCCAGTGATGAGGAGATC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation