Incidental Mutation 'R6195:Gcc2'
ID 502865
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 044335-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R6195 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 58091319-58141421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58106806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 681 (S681P)
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: S681P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: S681P

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 benign
Transcript: ENSMUST00000160416
SMART Domains Protein: ENSMUSP00000123873
Gene: ENSMUSG00000038039

DomainStartEndE-ValueType
coiled coil region 37 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160427
SMART Domains Protein: ENSMUSP00000124411
Gene: ENSMUSG00000038039

DomainStartEndE-ValueType
coiled coil region 32 94 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161570
Predicted Effect possibly damaging
Transcript: ENSMUST00000162041
AA Change: S645P

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: S645P

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 possibly damaging
Transcript: ENSMUST00000162860
AA Change: S581P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: S581P

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
Predicted Effect probably benign
Transcript: ENSMUST00000162984
SMART Domains Protein: ENSMUSP00000124988
Gene: ENSMUSG00000038039

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Meta Mutation Damage Score 0.0838 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (76/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,142 (GRCm39) probably null Het
Aadacl2fm2 G A 3: 59,659,623 (GRCm39) V359I probably damaging Het
Abtb1 T C 6: 88,817,718 (GRCm39) E50G probably benign Het
Agbl2 T A 2: 90,643,657 (GRCm39) D792E probably benign Het
Aoc1 C A 6: 48,885,611 (GRCm39) N705K probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef7 C T 8: 11,872,017 (GRCm39) T701I probably damaging Het
Atg10 G T 13: 91,356,555 (GRCm39) probably null Het
Atp5f1c T C 2: 10,068,926 (GRCm39) I116M possibly damaging Het
Baz2b T A 2: 59,737,855 (GRCm39) Q1818L possibly damaging Het
Bod1 A G 11: 31,616,740 (GRCm39) *174Q probably null Het
Cacna1a A G 8: 85,315,382 (GRCm39) Y1539C probably damaging Het
Creb3 A G 4: 43,566,346 (GRCm39) D260G probably benign Het
Cyp1b1 G T 17: 80,021,695 (GRCm39) L16M probably damaging Het
Dhx29 T A 13: 113,101,071 (GRCm39) S1205T probably benign Het
Dlec1 A G 9: 118,966,321 (GRCm39) K1097E probably benign Het
Dnah7b G A 1: 46,243,429 (GRCm39) D1578N probably damaging Het
Dok3 T C 13: 55,671,389 (GRCm39) N394S probably benign Het
Dpcd A G 19: 45,565,458 (GRCm39) D144G probably damaging Het
Efhb A G 17: 53,769,580 (GRCm39) F243S possibly damaging Het
Eif2ak2 A T 17: 79,178,662 (GRCm39) Y137* probably null Het
Eif4e1b A G 13: 54,932,018 (GRCm39) N34S probably null Het
F2rl3 A G 8: 73,489,513 (GRCm39) T247A probably benign Het
Fan1 A T 7: 64,004,119 (GRCm39) H782Q probably damaging Het
Fer1l5 T C 1: 36,414,367 (GRCm39) probably null Het
Fer1l6 T C 15: 58,509,806 (GRCm39) S1423P probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fgfbp1 T C 5: 44,136,704 (GRCm39) D196G possibly damaging Het
Fxn G A 19: 24,239,407 (GRCm39) R162C probably damaging Het
Fxr2 C T 11: 69,543,099 (GRCm39) T632M probably benign Het
Gab1 A T 8: 81,606,161 (GRCm39) Y24* probably null Het
Git2 T C 5: 114,905,175 (GRCm39) N94S probably benign Het
Gm5799 T G 14: 43,782,088 (GRCm39) L87V probably damaging Het
Golga7b A T 19: 42,251,886 (GRCm39) D44V probably benign Het
Hace1 T A 10: 45,546,539 (GRCm39) I391N possibly damaging Het
Hmcn2 T C 2: 31,274,127 (GRCm39) S1416P probably damaging Het
Hoxa11 G A 6: 52,222,681 (GRCm39) R7C probably damaging Het
Igkv14-126 A T 6: 67,873,475 (GRCm39) T68S possibly damaging Het
Insyn2a T C 7: 134,520,377 (GRCm39) D51G probably damaging Het
Itpr3 T C 17: 27,305,934 (GRCm39) I164T probably damaging Het
Kif22 A G 7: 126,628,131 (GRCm39) S540P probably damaging Het
Ldlr T A 9: 21,643,077 (GRCm39) C34* probably null Het
Lrrtm4 T C 6: 79,998,939 (GRCm39) L117P probably damaging Het
Mad2l1 G T 6: 66,514,612 (GRCm39) G94C possibly damaging Het
Malrd1 C A 2: 15,700,137 (GRCm39) H661Q probably damaging Het
Mical3 T A 6: 120,993,796 (GRCm39) probably benign Het
Mipep T A 14: 61,109,554 (GRCm39) W644R probably damaging Het
Mycl A G 4: 122,893,713 (GRCm39) D171G probably damaging Het
Myof A G 19: 37,901,805 (GRCm39) F997L possibly damaging Het
Nagpa C T 16: 5,021,613 (GRCm39) R46H probably damaging Het
Nf1 A G 11: 79,456,801 (GRCm39) Y629C probably damaging Het
Obscn T A 11: 58,888,033 (GRCm39) E2164V probably damaging Het
Or52h1 A T 7: 103,828,961 (GRCm39) V218D possibly damaging Het
Or5ac23 A G 16: 59,149,785 (GRCm39) V29A possibly damaging Het
Or5w19 T C 2: 87,698,904 (GRCm39) S190P possibly damaging Het
Or8k25 T C 2: 86,243,551 (GRCm39) I282V probably damaging Het
Pcdh20 T C 14: 88,705,488 (GRCm39) E604G probably benign Het
Pcdhb7 G A 18: 37,475,709 (GRCm39) V282I probably benign Het
Pcnx4 A G 12: 72,603,648 (GRCm39) D523G possibly damaging Het
Pigx G A 16: 31,903,404 (GRCm39) T219I probably damaging Het
Plch1 G T 3: 63,648,210 (GRCm39) P399Q probably damaging Het
Pvrig-ps T A 5: 138,340,537 (GRCm39) F74I possibly damaging Het
Rsrp1 T A 4: 134,654,113 (GRCm39) I255K probably damaging Het
Scn1a T A 2: 66,107,962 (GRCm39) Y1588F possibly damaging Het
Serpina9 T A 12: 103,967,666 (GRCm39) H243L probably damaging Het
Tapbp T C 17: 34,138,956 (GRCm39) L41P probably damaging Het
Tbc1d16 T A 11: 119,101,391 (GRCm39) K40* probably null Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbc1d23 T C 16: 57,051,713 (GRCm39) E6G possibly damaging Het
Tdrd6 A G 17: 43,940,643 (GRCm39) V135A probably damaging Het
Tmem87a A T 2: 120,222,656 (GRCm39) probably null Het
Tnrc18 T A 5: 142,750,928 (GRCm39) K1217N unknown Het
Trim33 G A 3: 103,244,848 (GRCm39) probably null Het
Ttn T A 2: 76,567,997 (GRCm39) Y27632F probably benign Het
Tubgcp6 A T 15: 89,006,994 (GRCm39) D9E probably benign Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Zfp655 T A 5: 145,180,572 (GRCm39) F143L possibly 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
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
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'- TCTGTAGAACTCAGGGAAGCAG -3'
(R):5'- GCCCTCAGTTGCTTAAGATACTC -3'

Sequencing Primer
(F):5'- CTCAGGGAAGCAGCAGGGC -3'
(R):5'- ACAAATGACTTCTGAACTTGCTC -3'
Posted On 2018-02-27