Incidental Mutation 'IGL00088:Gcc2'
ID1245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcc2
Ensembl Gene ENSMUSG00000038039
Gene NameGRIP and coiled-coil domain containing 2
Synonyms2600014C01Rik, 0610043A03Rik, 2210420P05Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.256) question?
Stock #IGL00088
Quality Score
Status
Chromosome10
Chromosomal Location58255497-58305599 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 58292680 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 1341 (H1341Y)
Ref Sequence ENSEMBL: ENSMUSP00000124152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057659] [ENSMUST00000162041] [ENSMUST00000162860]
Predicted Effect probably damaging
Transcript: ENSMUST00000057659
AA Change: H1441Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: H1441Y

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000160636
Predicted Effect probably damaging
Transcript: ENSMUST00000162041
AA Change: H1405Y

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: H1405Y

DomainStartEndE-ValueType
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: H1341Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: H1341Y

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Ankhd1 A G 18: 36,665,459 probably benign Het
Anpep A G 7: 79,825,736 V879A possibly damaging Het
Asb13 T G 13: 3,643,476 V78G probably null Het
Atad2b A G 12: 5,024,593 R1051G probably damaging Het
Bdp1 T C 13: 100,098,510 Y192C probably damaging Het
C1ql2 G T 1: 120,341,670 G185C probably damaging Het
C87499 T A 4: 88,629,070 K121N probably benign Het
Catsperg2 A G 7: 29,705,404 S745P possibly damaging Het
Col19a1 A T 1: 24,561,306 S52T unknown Het
Col4a2 G T 8: 11,443,685 G1418V probably damaging Het
Crnkl1 C T 2: 145,918,468 D677N possibly damaging Het
Cyp2j8 T A 4: 96,503,842 N125I probably benign Het
Cyp2t4 A T 7: 27,155,298 M68L probably benign Het
Dclk2 T A 3: 86,799,090 probably null Het
Dmxl2 T C 9: 54,401,704 D1921G probably benign Het
Dnah10 G A 5: 124,828,603 G4104S probably damaging Het
Echdc2 T C 4: 108,178,911 I273T probably damaging Het
Extl1 T C 4: 134,358,019 K596E probably damaging Het
Fads3 A T 19: 10,052,299 D108V probably null Het
Fam135b A G 15: 71,450,494 L1274P probably damaging Het
Fat1 T A 8: 45,024,602 H2228Q possibly damaging Het
Gls2 A G 10: 128,200,971 probably null Het
Gm13119 T A 4: 144,362,530 H139Q possibly damaging Het
Gpr137 A C 19: 6,939,704 V139G probably damaging Het
Ikbke A G 1: 131,270,012 probably null Het
Irak2 A T 6: 113,678,675 N285Y probably benign Het
Kcnu1 G A 8: 25,897,856 C566Y probably benign Het
Klhl29 G A 12: 5,140,705 P97S probably benign Het
Lama4 T C 10: 39,065,595 probably benign Het
Lhx6 G A 2: 36,091,716 probably benign Het
Mdn1 T C 4: 32,723,651 L2529P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Naa15 T A 3: 51,438,405 V19D probably damaging Het
Ncbp3 A T 11: 73,073,529 probably benign Het
Nckipsd G A 9: 108,814,969 V530I probably benign Het
Neb A G 2: 52,308,747 I394T possibly damaging Het
Nnmt A T 9: 48,591,924 probably benign Het
Nupl1 T A 14: 60,242,577 I207L probably benign Het
Olfr113 A T 17: 37,574,917 C169S probably damaging Het
Olfr180 C T 16: 58,915,850 E264K probably benign Het
Olfr290 T A 7: 84,916,370 M197K probably damaging Het
Otud4 T A 8: 79,672,881 N741K probably damaging Het
Pard6a T A 8: 105,703,201 C264S probably benign Het
Plch2 T C 4: 155,006,642 N276S probably damaging Het
Racgap1 T C 15: 99,636,122 probably benign Het
Rad51d T C 11: 82,889,746 D70G probably damaging Het
Recql4 C T 15: 76,707,336 A484T possibly damaging Het
Reg3g A T 6: 78,466,779 S149T probably benign Het
Rpl13a C A 7: 45,127,071 probably null Het
Scn10a T C 9: 119,672,226 Y164C probably damaging Het
Scn2a A G 2: 65,764,440 I1878V probably benign Het
Sgcg T A 14: 61,240,347 R98* probably null Het
Tas2r137 A T 6: 40,491,340 I35F probably benign Het
Tex19.2 A G 11: 121,116,812 F270S possibly damaging Het
Traip C T 9: 107,970,550 R391W probably benign Het
Trim7 A G 11: 48,845,571 N251D probably damaging Het
Trmt2a T A 16: 18,249,487 V8D probably benign Het
Ubr3 A C 2: 69,988,810 I9L probably benign Het
Usp42 A G 5: 143,717,142 S575P probably benign Het
Vmn2r52 G T 7: 10,169,096 H468Q probably benign Het
Vmn2r59 T A 7: 42,012,064 T776S possibly damaging Het
Zcchc6 T C 13: 59,816,698 E221G probably damaging Het
Other mutations in Gcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Gcc2 APN 10 58258248 missense probably benign 0.00
IGL00935:Gcc2 APN 10 58278779 splice site probably benign
IGL01551:Gcc2 APN 10 58298869 splice site probably benign
IGL01642:Gcc2 APN 10 58280612 missense probably benign 0.00
IGL02041:Gcc2 APN 10 58269281 missense probably damaging 1.00
IGL02215:Gcc2 APN 10 58271636 missense probably benign 0.36
IGL02448:Gcc2 APN 10 58292571 nonsense probably null
IGL02698:Gcc2 APN 10 58271290 missense possibly damaging 0.76
IGL02888:Gcc2 APN 10 58294828 missense probably damaging 1.00
IGL02936:Gcc2 APN 10 58296140 missense probably damaging 1.00
IGL03223:Gcc2 APN 10 58298734 missense probably damaging 1.00
IGL03249:Gcc2 APN 10 58270992 nonsense probably null
R0179:Gcc2 UTSW 10 58276650 missense probably benign 0.39
R0528:Gcc2 UTSW 10 58298689 missense probably damaging 1.00
R1569:Gcc2 UTSW 10 58270171 missense probably benign 0.00
R1606:Gcc2 UTSW 10 58269448 missense probably damaging 1.00
R1725:Gcc2 UTSW 10 58304115 missense possibly damaging 0.95
R1916:Gcc2 UTSW 10 58276663 missense probably damaging 1.00
R1956:Gcc2 UTSW 10 58286143 missense possibly damaging 0.66
R2058:Gcc2 UTSW 10 58285957 missense probably benign 0.10
R2114:Gcc2 UTSW 10 58269540 nonsense probably null
R2280:Gcc2 UTSW 10 58269680 missense probably benign 0.38
R2435:Gcc2 UTSW 10 58294780 missense probably damaging 1.00
R2876:Gcc2 UTSW 10 58290302 missense probably damaging 0.99
R4753:Gcc2 UTSW 10 58290382 missense probably benign 0.20
R4827:Gcc2 UTSW 10 58286131 critical splice acceptor site probably null
R4911:Gcc2 UTSW 10 58270439 missense probably damaging 1.00
R5033:Gcc2 UTSW 10 58278806 missense probably damaging 0.98
R5224:Gcc2 UTSW 10 58286160 missense probably damaging 1.00
R5271:Gcc2 UTSW 10 58269695 missense possibly damaging 0.46
R5398:Gcc2 UTSW 10 58269507 missense probably benign 0.00
R5411:Gcc2 UTSW 10 58270969 missense probably damaging 0.99
R5594:Gcc2 UTSW 10 58287242 missense probably damaging 0.99
R5825:Gcc2 UTSW 10 58294821 missense probably damaging 1.00
R5974:Gcc2 UTSW 10 58258243 missense probably damaging 0.99
R5987:Gcc2 UTSW 10 58255847 utr 5 prime probably benign
R6195:Gcc2 UTSW 10 58270984 missense probably damaging 0.96
R6198:Gcc2 UTSW 10 58292590 missense probably benign 0.26
R6233:Gcc2 UTSW 10 58270984 missense probably damaging 0.96
R6331:Gcc2 UTSW 10 58271465 missense probably benign
R6349:Gcc2 UTSW 10 58269474 missense probably benign 0.01
R6593:Gcc2 UTSW 10 58271507 missense probably damaging 1.00
R6632:Gcc2 UTSW 10 58270049 unclassified probably null
R6647:Gcc2 UTSW 10 58287281 critical splice donor site probably null
R6774:Gcc2 UTSW 10 58281439 missense possibly damaging 0.94
R6808:Gcc2 UTSW 10 58258242 missense probably damaging 0.99
R7072:Gcc2 UTSW 10 58270927 missense probably benign 0.02
R7220:Gcc2 UTSW 10 58280594 missense probably benign 0.00
R7352:Gcc2 UTSW 10 58280698 critical splice donor site probably null
R7384:Gcc2 UTSW 10 58269964 missense probably damaging 1.00
R7439:Gcc2 UTSW 10 58256901 missense probably benign 0.08
R7441:Gcc2 UTSW 10 58256901 missense probably benign 0.08
X0018:Gcc2 UTSW 10 58278814 missense probably damaging 0.98
Posted On2011-07-12