Incidental Mutation 'R7850:Gcc2'
| ID |
606888 |
| 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 |
045903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R7850 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58114703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1084
(V1084D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000160416]
[ENSMUST00000162041]
[ENSMUST00000162860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057659
AA Change: V1084D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: V1084D
| 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: ENSMUST00000160416
AA Change: V111D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123873
Gene: ENSMUSG00000038039
AA Change: V111D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162041
AA Change: V1048D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: V1048D
| 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: V984D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: V984D
| 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 |
0.0918 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,869,328 (GRCm39) |
D2E |
probably damaging |
Het |
| Abhd16b |
G |
A |
2: 181,135,518 (GRCm39) |
R140H |
not run |
Het |
| Acad11 |
G |
T |
9: 103,991,728 (GRCm39) |
G588C |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,767,060 (GRCm39) |
E107D |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,190,023 (GRCm39) |
S625P |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,832 (GRCm39) |
L265F |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,786 (GRCm39) |
Y227C |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,575 (GRCm39) |
A848T |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,739,720 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
G |
T |
7: 25,886,111 (GRCm39) |
E93* |
probably null |
Het |
| Dcp2 |
C |
A |
18: 44,533,415 (GRCm39) |
S122* |
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,079,745 (GRCm39) |
L456P |
probably damaging |
Het |
| Entpd8 |
T |
C |
2: 24,975,028 (GRCm39) |
M453T |
probably damaging |
Het |
| Grem1 |
A |
G |
2: 113,580,178 (GRCm39) |
C108R |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,392,069 (GRCm39) |
E880G |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,922,477 (GRCm39) |
M222K |
probably damaging |
Het |
| Htr1b |
G |
T |
9: 81,514,652 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
G |
5: 35,009,631 (GRCm39) |
|
probably null |
Het |
| Ifnab |
T |
G |
4: 88,609,133 (GRCm39) |
D111A |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,227,053 (GRCm39) |
L2207I |
probably benign |
Het |
| Itln1 |
T |
C |
1: 171,358,166 (GRCm39) |
Y194C |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,865,043 (GRCm39) |
D702E |
probably damaging |
Het |
| Knop1 |
T |
C |
7: 118,449,860 (GRCm39) |
E382G |
unknown |
Het |
| Lrit3 |
A |
C |
3: 129,594,452 (GRCm39) |
L42V |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,052,170 (GRCm39) |
E976G |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,996 (GRCm39) |
M167V |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,518 (GRCm39) |
I150N |
possibly damaging |
Het |
| Or8s8 |
G |
A |
15: 98,354,949 (GRCm39) |
G253R |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,827,436 (GRCm39) |
E758V |
probably damaging |
Het |
| Pcnx3 |
A |
C |
19: 5,728,960 (GRCm39) |
F967V |
possibly damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,602,842 (GRCm39) |
C368F |
probably benign |
Het |
| Pi15 |
T |
A |
1: 17,673,105 (GRCm39) |
Y101* |
probably null |
Het |
| Ppp1r9a |
G |
A |
6: 4,905,894 (GRCm39) |
V150M |
possibly damaging |
Het |
| Prrt4 |
A |
T |
6: 29,176,900 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,090,828 (GRCm39) |
V310A |
probably benign |
Het |
| Ric1 |
G |
A |
19: 29,572,293 (GRCm39) |
S696N |
probably benign |
Het |
| Setx |
T |
A |
2: 29,037,430 (GRCm39) |
V1305D |
probably damaging |
Het |
| Slk |
G |
A |
19: 47,610,796 (GRCm39) |
R822H |
probably damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,383,072 (GRCm39) |
F204I |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,571,140 (GRCm39) |
|
probably null |
Het |
| Tmtc2 |
A |
G |
10: 105,409,568 (GRCm39) |
Y15H |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,615,168 (GRCm39) |
S218P |
probably benign |
Het |
| Tubb2a |
T |
C |
13: 34,258,554 (GRCm39) |
E412G |
probably damaging |
Het |
| Usp48 |
T |
G |
4: 137,333,060 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,805,431 (GRCm39) |
N475K |
probably damaging |
Het |
| Zscan4-ps1 |
G |
A |
7: 10,799,735 (GRCm39) |
H385Y |
probably benign |
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 |
|
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 |
|
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'- CAGCAGTGATTGTTTCTTTAAACG -3'
(R):5'- TCAGACTATACTCATAAATGCACTCAG -3'
Sequencing Primer
(F):5'- CTGTGTGGTTAATGGTCAAATCAC -3'
(R):5'- TCAGTAAGACTGTTCATCCGAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation