Incidental Mutation 'R8336:Gcc2'
| ID |
644625 |
| 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 |
067729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R8336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58108189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 933
(D933G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057659]
[ENSMUST00000160416]
[ENSMUST00000160427]
[ENSMUST00000162041]
[ENSMUST00000162860]
[ENSMUST00000162984]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057659
AA Change: D933G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: D933G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000123873
Gene: ENSMUSG00000038039
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
176 |
N/A |
INTRINSIC |
|
| 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 |
probably damaging
Transcript: ENSMUST00000162041
AA Change: D897G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: D897G
| 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: D833G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: D833G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
C |
14: 64,223,545 (GRCm39) |
K77R |
probably benign |
Het |
| Acta1 |
C |
T |
8: 124,619,310 (GRCm39) |
E261K |
possibly damaging |
Het |
| Adamts19 |
A |
T |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
| Adck1 |
C |
A |
12: 88,335,249 (GRCm39) |
T45K |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,566,495 (GRCm39) |
F291S |
|
Het |
| BC048671 |
T |
C |
6: 90,279,849 (GRCm39) |
V24A |
probably benign |
Het |
| Brsk2 |
C |
T |
7: 141,538,211 (GRCm39) |
A119V |
probably damaging |
Het |
| Cacnb1 |
A |
G |
11: 97,894,119 (GRCm39) |
Y468H |
probably benign |
Het |
| Cep89 |
A |
T |
7: 35,127,141 (GRCm39) |
K501* |
probably null |
Het |
| Ces2a |
T |
A |
8: 105,465,665 (GRCm39) |
F306I |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,952,528 (GRCm39) |
I457F |
possibly damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
C |
A |
14: 26,432,220 (GRCm39) |
T444K |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,406 (GRCm39) |
S270P |
probably damaging |
Het |
| Eppk1 |
T |
TCAC |
15: 75,992,152 (GRCm39) |
|
probably null |
Het |
| Esam |
T |
A |
9: 37,448,362 (GRCm39) |
I267K |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,542,489 (GRCm39) |
V106A |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,099 (GRCm39) |
T5611A |
possibly damaging |
Het |
| Gm16506 |
T |
A |
14: 43,964,825 (GRCm39) |
H39L |
|
Het |
| Gm5145 |
A |
T |
17: 20,790,687 (GRCm39) |
N22Y |
probably damaging |
Het |
| Gm6465 |
A |
T |
5: 11,896,780 (GRCm39) |
R50W |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,309,405 (GRCm39) |
D548E |
probably benign |
Het |
| Hnrnpl |
C |
A |
7: 28,513,462 (GRCm39) |
S178R |
possibly damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,526,968 (GRCm39) |
*803Q |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,396,407 (GRCm39) |
N1088S |
probably benign |
Het |
| Klk1b11 |
C |
T |
7: 43,425,865 (GRCm39) |
|
probably benign |
Het |
| Kmt5b |
T |
C |
19: 3,865,531 (GRCm39) |
I865T |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,372,884 (GRCm39) |
R189L |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,603,430 (GRCm39) |
S1040P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,163,902 (GRCm39) |
S2019G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,314,815 (GRCm39) |
V545A |
possibly damaging |
Het |
| Nkd2 |
G |
T |
13: 73,969,192 (GRCm39) |
P425T |
probably damaging |
Het |
| Or5h26 |
T |
C |
16: 58,987,918 (GRCm39) |
Y196C |
possibly damaging |
Het |
| Ostm1 |
A |
G |
10: 42,572,334 (GRCm39) |
Y239C |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,874,204 (GRCm39) |
D203G |
probably benign |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,942 (GRCm39) |
Y690* |
probably null |
Het |
| Pla2r1 |
C |
A |
2: 60,253,027 (GRCm39) |
V1355F |
possibly damaging |
Het |
| Pms1 |
C |
T |
1: 53,245,985 (GRCm39) |
S518N |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,367,249 (GRCm39) |
*726C |
probably null |
Het |
| Rin1 |
A |
T |
19: 5,105,013 (GRCm39) |
H691L |
possibly damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,473,058 (GRCm39) |
Y47* |
probably null |
Het |
| Sp9 |
T |
A |
2: 73,104,796 (GRCm39) |
V450D |
possibly damaging |
Het |
| Sstr3 |
T |
C |
15: 78,424,693 (GRCm39) |
N18S |
probably damaging |
Het |
| Sugct |
T |
A |
13: 17,032,504 (GRCm39) |
Y416F |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,257,000 (GRCm39) |
T75A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,746,808 (GRCm39) |
V999A |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,399,112 (GRCm39) |
L453* |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,762 (GRCm39) |
M515K |
probably benign |
Het |
| Vstm2a |
G |
A |
11: 16,207,801 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TCATGTTGCTCTTTGGCACT -3'
(R):5'- TGGCATTTGGAAGAGAAGGT -3'
Sequencing Primer
(F):5'- CTTTGGCACTATTTTAATAAGGGCC -3'
(R):5'- TAAACAGATGGCAGAGGACAATTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation