Incidental Mutation 'R9006:Gcc2'
ID |
685307 |
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 |
068836-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R9006 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
58091319-58141421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58103801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 76
(R76C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054033
(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: R76C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054033 Gene: ENSMUSG00000038039 AA Change: R76C
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 damaging
Transcript: ENSMUST00000160427
AA Change: R40C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124411 Gene: ENSMUSG00000038039 AA Change: R40C
Domain | Start | End | E-Value | Type |
coiled coil region
|
32 |
94 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162041
AA Change: R40C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124787 Gene: ENSMUSG00000038039 AA Change: R40C
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 |
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: 98.7%
|
Validation Efficiency |
97% (72/74) |
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 |
Abcc6 |
T |
C |
7: 45,665,820 (GRCm39) |
N267D |
probably benign |
Het |
Akap1 |
A |
T |
11: 88,723,996 (GRCm39) |
M803K |
possibly damaging |
Het |
Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
Ankrd31 |
T |
C |
13: 96,967,104 (GRCm39) |
F528L |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,271,659 (GRCm39) |
Y624H |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,164,345 (GRCm39) |
F1182L |
possibly damaging |
Het |
Cfap73 |
G |
A |
5: 120,767,760 (GRCm39) |
Q264* |
probably null |
Het |
Clca3a2 |
C |
A |
3: 144,783,789 (GRCm39) |
A609S |
probably damaging |
Het |
Cntfr |
A |
T |
4: 41,661,971 (GRCm39) |
|
probably null |
Het |
Cyp2c65 |
C |
T |
19: 39,070,714 (GRCm39) |
T299I |
probably damaging |
Het |
Cyp2j5 |
G |
T |
4: 96,552,149 (GRCm39) |
N33K |
probably benign |
Het |
Dhcr7 |
T |
A |
7: 143,394,978 (GRCm39) |
S165T |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,820,783 (GRCm39) |
D539V |
probably benign |
Het |
Ebag9 |
A |
T |
15: 44,503,703 (GRCm39) |
Q176L |
probably benign |
Het |
Fbxw20 |
T |
A |
9: 109,062,530 (GRCm39) |
|
probably benign |
Het |
Ftmt |
A |
G |
18: 52,465,112 (GRCm39) |
K143E |
possibly damaging |
Het |
Gcn1 |
A |
G |
5: 115,719,566 (GRCm39) |
T354A |
probably benign |
Het |
Gtf2h1 |
A |
G |
7: 46,458,262 (GRCm39) |
M271V |
probably benign |
Het |
Iah1 |
G |
A |
12: 21,367,402 (GRCm39) |
G36D |
probably damaging |
Het |
Ism2 |
G |
T |
12: 87,326,969 (GRCm39) |
D323E |
probably damaging |
Het |
Itih4 |
A |
G |
14: 30,612,086 (GRCm39) |
I184V |
probably damaging |
Het |
Kdm4d |
C |
A |
9: 14,374,833 (GRCm39) |
V342L |
probably benign |
Het |
Lmbr1 |
A |
G |
5: 29,551,900 (GRCm39) |
F62L |
probably benign |
Het |
Lmo7 |
TCGGATTCTGTGGC |
TC |
14: 102,155,072 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
T |
A |
11: 58,277,586 (GRCm39) |
S123T |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,981,323 (GRCm39) |
N432K |
probably benign |
Het |
Mrgprb4 |
A |
G |
7: 47,848,343 (GRCm39) |
V195A |
probably benign |
Het |
Ms4a4c |
A |
T |
19: 11,396,360 (GRCm39) |
I106F |
probably benign |
Het |
Myo6 |
A |
G |
9: 80,136,140 (GRCm39) |
T88A |
unknown |
Het |
Naa35 |
A |
G |
13: 59,748,842 (GRCm39) |
D158G |
possibly damaging |
Het |
Nol12 |
A |
G |
15: 78,824,291 (GRCm39) |
E137G |
possibly damaging |
Het |
Nsun4 |
A |
G |
4: 115,897,316 (GRCm39) |
S232P |
probably damaging |
Het |
Odad2 |
A |
T |
18: 7,294,516 (GRCm39) |
N32K |
probably benign |
Het |
Odam |
A |
T |
5: 88,040,298 (GRCm39) |
I255L |
probably benign |
Het |
Or14j8 |
A |
T |
17: 38,263,545 (GRCm39) |
Y123* |
probably null |
Het |
Or1ad8 |
A |
T |
11: 50,897,975 (GRCm39) |
M59L |
probably damaging |
Het |
Or1e26 |
T |
A |
11: 73,480,036 (GRCm39) |
H176L |
probably benign |
Het |
Or2n1d |
T |
C |
17: 38,646,723 (GRCm39) |
V225A |
possibly damaging |
Het |
Or2w3b |
G |
A |
11: 58,623,188 (GRCm39) |
Q268* |
probably null |
Het |
Or4b1 |
T |
G |
2: 89,980,327 (GRCm39) |
T8P |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,613,996 (GRCm39) |
D485G |
probably benign |
Het |
Polr3b |
T |
A |
10: 84,467,697 (GRCm39) |
N92K |
probably benign |
Het |
Rpgrip1l |
T |
A |
8: 92,007,436 (GRCm39) |
M385L |
probably benign |
Het |
Sdk1 |
A |
T |
5: 141,923,321 (GRCm39) |
N314I |
probably damaging |
Het |
Shc4 |
T |
C |
2: 125,514,394 (GRCm39) |
|
probably benign |
Het |
Slc45a1 |
A |
C |
4: 150,722,731 (GRCm39) |
C384W |
probably damaging |
Het |
Slc4a11 |
C |
T |
2: 130,532,773 (GRCm39) |
V227M |
probably damaging |
Het |
Sorbs2 |
A |
C |
8: 46,258,858 (GRCm39) |
S1132R |
possibly damaging |
Het |
Spata31e3 |
G |
A |
13: 50,401,589 (GRCm39) |
H246Y |
possibly damaging |
Het |
Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,047,537 (GRCm39) |
I1727K |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,283,307 (GRCm39) |
E258G |
probably damaging |
Het |
Taco1 |
A |
T |
11: 105,956,931 (GRCm39) |
|
probably benign |
Het |
Taf2 |
A |
T |
15: 54,909,301 (GRCm39) |
M648K |
possibly damaging |
Het |
Taf7 |
A |
G |
18: 37,775,757 (GRCm39) |
V270A |
probably benign |
Het |
Tbkbp1 |
G |
A |
11: 97,029,707 (GRCm39) |
T483I |
unknown |
Het |
Tesc |
A |
G |
5: 118,184,378 (GRCm39) |
|
probably null |
Het |
Tgs1 |
A |
G |
4: 3,595,427 (GRCm39) |
N532S |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tmem196 |
T |
A |
12: 119,978,510 (GRCm39) |
C84S |
probably damaging |
Het |
Topbp1 |
C |
T |
9: 103,182,499 (GRCm39) |
|
probably benign |
Het |
Ttc16 |
A |
G |
2: 32,652,985 (GRCm39) |
S615P |
probably benign |
Het |
Ttc21a |
T |
A |
9: 119,792,130 (GRCm39) |
|
probably benign |
Het |
Tuba3b |
T |
C |
6: 145,565,564 (GRCm39) |
V344A |
possibly damaging |
Het |
Tubgcp4 |
T |
C |
2: 121,015,251 (GRCm39) |
F320L |
probably benign |
Het |
Tusc3 |
T |
A |
8: 39,538,627 (GRCm39) |
L222* |
probably null |
Het |
Ubr4 |
G |
A |
4: 139,172,003 (GRCm39) |
|
probably null |
Het |
Uncx |
G |
T |
5: 139,532,936 (GRCm39) |
V334L |
possibly damaging |
Het |
Vezf1 |
C |
A |
11: 87,965,542 (GRCm39) |
F261L |
probably damaging |
Het |
Vezt |
T |
A |
10: 93,809,874 (GRCm39) |
I556L |
probably benign |
Het |
Vmn1r172 |
C |
T |
7: 23,359,402 (GRCm39) |
R96C |
probably benign |
Het |
Zfp383 |
A |
G |
7: 29,608,070 (GRCm39) |
M1V |
probably null |
Het |
Zfp558 |
A |
T |
9: 18,367,776 (GRCm39) |
S337R |
possibly damaging |
Het |
Zranb1 |
T |
A |
7: 132,572,909 (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 |
|
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 |
|
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'- TCTTTGTTTAGCTATGAACCCCATTT -3'
(R):5'- TACCTTGTTAAGCATCCCAGGC -3'
Sequencing Primer
(F):5'- AGTCCCCTATCAGATTTAGGATTGG -3'
(R):5'- ATCCATGCTTGGCTAGATTAGATGC -3'
|
Posted On |
2021-10-11 |