Incidental Mutation 'R7543:Gcc2'
ID 584021
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 045615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R7543 (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 A at 58107086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 774 (I774K)
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 benign
Transcript: ENSMUST00000057659
AA Change: I774K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: I774K

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 probably benign
Transcript: ENSMUST00000162041
AA Change: I738K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: I738K

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 benign
Transcript: ENSMUST00000162860
AA Change: I674K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: I674K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,559,920 (GRCm39) S54T probably damaging Het
Acsl5 G A 19: 55,266,615 (GRCm39) V59I Het
Acss2 A T 2: 155,391,755 (GRCm39) I203F probably damaging Het
Add2 A G 6: 86,083,207 (GRCm39) N435S probably damaging Het
Afap1l1 T C 18: 61,889,972 (GRCm39) D88G probably benign Het
Ajm1 C A 2: 25,467,410 (GRCm39) A834S possibly damaging Het
Ank3 C T 10: 69,786,846 (GRCm39) T970M possibly damaging Het
Ap3b2 A T 7: 81,115,894 (GRCm39) probably null Het
Apc2 A G 10: 80,150,720 (GRCm39) K1925E possibly damaging Het
Aspscr1 A G 11: 120,600,249 (GRCm39) N130D unknown Het
B3glct A G 5: 149,677,604 (GRCm39) D411G probably damaging Het
Bard1 T C 1: 71,114,589 (GRCm39) K131E probably damaging Het
Bche T C 3: 73,609,066 (GRCm39) D120G probably damaging Het
Brms1l A T 12: 55,914,997 (GRCm39) D302V probably damaging Het
Ccdc191 T A 16: 43,718,572 (GRCm39) Y56* probably null Het
Cela3a T A 4: 137,129,883 (GRCm39) H246L probably damaging Het
Col11a2 A T 17: 34,269,430 (GRCm39) D440V unknown Het
Cplane1 T C 15: 8,254,876 (GRCm39) I21T unknown Het
Dag1 C T 9: 108,095,280 (GRCm39) V71I probably benign Het
Ddx23 A G 15: 98,556,139 (GRCm39) S60P unknown Het
Dync1h1 G T 12: 110,580,541 (GRCm39) R134L probably benign Het
Dync1i1 T C 6: 5,784,464 (GRCm39) S103P possibly damaging Het
Erap1 T A 13: 74,822,753 (GRCm39) D755E probably damaging Het
Exosc8 T C 3: 54,636,669 (GRCm39) T221A probably benign Het
Fbxo4 T C 15: 4,007,385 (GRCm39) D93G probably damaging Het
Fzd5 A G 1: 64,774,999 (GRCm39) V254A probably damaging Het
Gbp3 T C 3: 142,272,341 (GRCm39) V281A probably damaging Het
Gpr132 A C 12: 112,815,822 (GRCm39) C335G probably benign Het
Gpr162 G T 6: 124,838,355 (GRCm39) Y98* probably null Het
H2-T24 T C 17: 36,325,743 (GRCm39) T283A possibly damaging Het
Hoxc6 A G 15: 102,918,186 (GRCm39) Y50C probably damaging Het
Il4i1 A G 7: 44,486,199 (GRCm39) N53S possibly damaging Het
Iqcf3 T C 9: 106,431,425 (GRCm39) K60R possibly damaging Het
Kif24 A T 4: 41,413,993 (GRCm39) Y316* probably null Het
Krt18 A G 15: 101,939,896 (GRCm39) K365E probably damaging Het
Lrguk T A 6: 34,025,870 (GRCm39) L222* probably null Het
Mbd1 T G 18: 74,407,520 (GRCm39) V210G probably damaging Het
Ms4a6b A G 19: 11,499,155 (GRCm39) I90V not run Het
Muc16 A G 9: 18,556,028 (GRCm39) S3422P unknown Het
Mynn G A 3: 30,661,188 (GRCm39) W90* probably null Het
Or5p5 T A 7: 107,414,308 (GRCm39) N172K probably damaging Het
Pdpr T A 8: 111,859,520 (GRCm39) H687Q probably damaging Het
Pkd1 A G 17: 24,814,227 (GRCm39) E4199G probably damaging Het
Plekhg5 A G 4: 152,192,491 (GRCm39) E517G probably damaging Het
Plxna1 T C 6: 89,299,837 (GRCm39) D1644G probably damaging Het
Pon1 C T 6: 5,168,400 (GRCm39) V336M possibly damaging Het
Pop1 T A 15: 34,530,593 (GRCm39) L1027Q probably damaging Het
Pramel1 T C 4: 143,124,993 (GRCm39) S306P probably damaging Het
Prpsap2 A T 11: 61,635,797 (GRCm39) F168I possibly damaging Het
Rabgap1 T A 2: 37,359,444 (GRCm39) D2E probably damaging Het
Rgmb A T 17: 16,027,777 (GRCm39) L314Q probably damaging Het
Ryr2 C T 13: 11,653,317 (GRCm39) probably null Het
Samd4b A T 7: 28,113,711 (GRCm39) S85T probably benign Het
Sfrp5 T C 19: 42,187,302 (GRCm39) D256G possibly damaging Het
Slc25a23 A G 17: 57,365,106 (GRCm39) probably null Het
Sox5 A G 6: 143,786,905 (GRCm39) I589T probably damaging Het
Sybu T A 15: 44,546,848 (GRCm39) probably null Het
Syne2 A G 12: 75,953,616 (GRCm39) E515G possibly damaging Het
Tbc1d17 G A 7: 44,495,503 (GRCm39) A107V probably benign Het
Tcstv2c A C 13: 120,616,290 (GRCm39) E43A probably damaging Het
Tex50 G T 1: 160,984,817 (GRCm39) T141K possibly damaging Het
Tmc7 A G 7: 118,144,979 (GRCm39) L527P probably benign Het
Tns4 T A 11: 98,963,079 (GRCm39) D547V probably benign Het
Topors A G 4: 40,268,312 (GRCm39) S65P probably damaging Het
Trdc T A 14: 54,381,692 (GRCm39) S126T Het
Ttc27 A T 17: 75,024,745 (GRCm39) probably benign Het
Wdfy3 A C 5: 102,083,925 (GRCm39) I787S probably benign Het
Zc3h11a T C 1: 133,554,768 (GRCm39) D404G possibly damaging Het
Zfp799 A G 17: 33,039,534 (GRCm39) I244T probably benign Het
Zfp93 A G 7: 23,974,533 (GRCm39) T173A probably benign Het
Zfp953 T A 13: 67,495,953 (GRCm39) L29F 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
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
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'- TGCCCATAAAGAACATGTTGC -3'
(R):5'- GCCTCTTTTGCTGATGTGAC -3'

Sequencing Primer
(F):5'- GTTGCTGAATTCGAAAAGAAACTCC -3'
(R):5'- GCTGATGTGACTGCATCTAATTC -3'
Posted On 2019-10-17