Incidental Mutation 'R1916:Gcc2'
ID 214877
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 039934-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R1916 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 58091319-58141421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58112485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1005 (D1005G)
Ref Sequence ENSEMBL: ENSMUSP00000124787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057659] [ENSMUST00000160416] [ENSMUST00000162041] [ENSMUST00000162860]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000057659
AA Change: D1041G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: D1041G

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 probably damaging
Transcript: ENSMUST00000160416
AA Change: D68G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123873
Gene: ENSMUSG00000038039
AA Change: D68G

DomainStartEndE-ValueType
coiled coil region 37 176 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160677
Predicted Effect probably damaging
Transcript: ENSMUST00000162041
AA Change: D1005G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: D1005G

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: D941G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: D941G

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
Meta Mutation Damage Score 0.0886 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.5%
Validation Efficiency 99% (97/98)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,652,924 (GRCm39) K121R possibly damaging Het
Abca13 G T 11: 9,484,456 (GRCm39) W4342L probably damaging Het
Abcg8 A T 17: 84,995,958 (GRCm39) probably null Het
Acaa1b A G 9: 118,985,730 (GRCm39) L65P probably damaging Het
Adam6a G T 12: 113,509,556 (GRCm39) R643L probably benign Het
Agbl2 A T 2: 90,645,785 (GRCm39) R839S possibly damaging Het
Ambra1 A T 2: 91,741,806 (GRCm39) N967I probably damaging Het
Ankrd17 T A 5: 90,408,000 (GRCm39) N1406Y probably damaging Het
Armh4 T C 14: 50,005,932 (GRCm39) T588A probably damaging Het
Bbx G T 16: 50,086,608 (GRCm39) S96Y probably damaging Het
Cdh12 T A 15: 21,520,336 (GRCm39) probably null Het
Cdh9 A C 15: 16,823,361 (GRCm39) R114S probably benign Het
Cenpo T G 12: 4,266,683 (GRCm39) I142L probably benign Het
Cfap69 T C 5: 5,713,970 (GRCm39) K21E probably damaging Het
Chmp4c A T 3: 10,454,996 (GRCm39) D221V probably benign Het
Cstf3 T A 2: 104,486,101 (GRCm39) V447D possibly damaging Het
Cwc22 A T 2: 77,735,819 (GRCm39) C566S probably benign Het
Dgkh A G 14: 78,832,663 (GRCm39) M798T probably damaging Het
Dnai2 T C 11: 114,623,749 (GRCm39) V4A possibly damaging Het
Dnai7 A C 6: 145,121,926 (GRCm39) V631G probably benign Het
Dnmbp T G 19: 43,890,007 (GRCm39) I587L possibly damaging Het
Dock6 A T 9: 21,724,387 (GRCm39) M301K probably damaging Het
Dock8 T C 19: 25,038,521 (GRCm39) M69T probably benign Het
Ears2 T C 7: 121,643,801 (GRCm39) S386G probably benign Het
Ecsit T C 9: 21,983,817 (GRCm39) I371V probably benign Het
Eif4a3 T C 11: 119,184,737 (GRCm39) I216V probably benign Het
Emp1 A G 6: 135,357,128 (GRCm39) I69V probably damaging Het
Epg5 A G 18: 78,008,236 (GRCm39) D788G probably benign Het
Eps15 A G 4: 109,226,171 (GRCm39) K324E probably damaging Het
Extl3 A G 14: 65,315,071 (GRCm39) F37S probably benign Het
Fam83g A G 11: 61,585,994 (GRCm39) D194G probably damaging Het
Gm10226 T A 17: 21,910,916 (GRCm39) H50Q possibly damaging Het
Gm1110 A T 9: 26,800,934 (GRCm39) V420E probably damaging Het
Gm16503 A G 4: 147,625,667 (GRCm39) R54G unknown Het
Grin3b T C 10: 79,810,432 (GRCm39) M646T probably damaging Het
Grm8 T C 6: 27,363,583 (GRCm39) D644G probably benign Het
Gtf2i C A 5: 134,275,702 (GRCm39) V660F probably damaging Het
Heatr4 G T 12: 84,002,591 (GRCm39) Q808K probably benign Het
Hif3a T C 7: 16,773,581 (GRCm39) S573G possibly damaging Het
Htr2b C T 1: 86,027,523 (GRCm39) V328M probably damaging Het
Jph1 T C 1: 17,162,279 (GRCm39) T128A probably damaging Het
Kcnt1 T C 2: 25,790,481 (GRCm39) V481A probably damaging Het
Khk A G 5: 31,087,962 (GRCm39) Y212C probably damaging Het
Lgi2 T A 5: 52,703,974 (GRCm39) Q219L probably benign Het
Lipf T A 19: 33,943,075 (GRCm39) Y128N probably benign Het
Lipg A G 18: 75,094,008 (GRCm39) V13A probably benign Het
Lrrc8e T C 8: 4,285,202 (GRCm39) S476P probably benign Het
Map2k7 T G 8: 4,295,795 (GRCm39) V425G probably benign Het
Mycbp2 A T 14: 103,422,319 (GRCm39) S2451R probably damaging Het
Mylk3 A G 8: 86,053,821 (GRCm39) S629P probably damaging Het
Nrp2 A T 1: 62,801,906 (GRCm39) I450F probably damaging Het
Or4c126 T C 2: 89,824,148 (GRCm39) V137A probably benign Het
Or8g50 A G 9: 39,648,918 (GRCm39) D269G probably benign Het
Osbpl11 T C 16: 33,006,213 (GRCm39) S14P probably benign Het
Osbpl11 T A 16: 33,030,465 (GRCm39) V231D possibly damaging Het
Parg T A 14: 31,930,184 (GRCm39) probably benign Het
Pax9 G T 12: 56,743,923 (GRCm39) R190L possibly damaging Het
Prss12 G A 3: 123,300,144 (GRCm39) V752I probably benign Het
Pstpip2 A G 18: 77,922,892 (GRCm39) N34S probably damaging Het
Rarg T C 15: 102,160,880 (GRCm39) D53G probably benign Het
Rbak T C 5: 143,161,871 (GRCm39) K53R probably damaging Het
Scgn A T 13: 24,162,808 (GRCm39) S107R probably damaging Het
Sema3c A G 5: 17,932,399 (GRCm39) Q634R probably benign Het
Serpinh1 A G 7: 98,998,288 (GRCm39) L114P probably damaging Het
Slc35f4 T C 14: 49,541,380 (GRCm39) probably benign Het
Sned1 A T 1: 93,201,884 (GRCm39) I617F probably null Het
Spata31 C T 13: 65,070,359 (GRCm39) R836* probably null Het
Spen A G 4: 141,199,909 (GRCm39) L2883P probably damaging Het
Stmn3 A T 2: 180,949,073 (GRCm39) M140K possibly damaging Het
Syn3 A G 10: 86,190,208 (GRCm39) probably null Het
Tamalin T C 15: 101,124,850 (GRCm39) probably benign Het
Tor4a A G 2: 25,085,414 (GRCm39) V163A possibly damaging Het
Ttc12 A G 9: 49,371,698 (GRCm39) Y189H probably damaging Het
Ubxn7 T G 16: 32,200,577 (GRCm39) probably benign Het
Unc5b G A 10: 60,614,027 (GRCm39) T274I probably damaging Het
Upk1b C A 16: 38,596,548 (GRCm39) probably null Het
Usp18 A G 6: 121,245,513 (GRCm39) I296M probably benign Het
Usp42 A G 5: 143,700,811 (GRCm39) Y1071H probably damaging Het
Vil1 A G 1: 74,457,684 (GRCm39) T106A probably benign Het
Vmn1r42 T A 6: 89,821,949 (GRCm39) I207F probably benign Het
Vmn1r63 A G 7: 5,806,225 (GRCm39) F136L probably damaging Het
Vopp1 C T 6: 57,731,572 (GRCm39) V140I probably benign Het
Wdhd1 T C 14: 47,496,034 (GRCm39) D610G possibly damaging Het
Wdr48 T A 9: 119,741,483 (GRCm39) D142E probably benign Het
Whrn A G 4: 63,412,969 (GRCm39) Y10H probably damaging Het
Zmat3 A G 3: 32,397,497 (GRCm39) V216A probably benign Het
Zmym2 C T 14: 57,197,299 (GRCm39) R1356W probably damaging Het
Zyg11b A T 4: 108,129,480 (GRCm39) L44Q probably damaging Het
Other mutations in Gcc2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTCTTAAGGTGTCACGATGGC -3'
(R):5'- TCACAACTCAACAGTAAGAAAAGCTT -3'

Sequencing Primer
(F):5'- AAGGTGTCACGATGGCTTGATTC -3'
(R):5'- TAGTGGACTGAACCTCTGAACCTG -3'
Posted On 2014-07-14