Incidental Mutation 'R9240:Gcc2'
ID 700699
Institutional Source Beutler Lab
Gene Symbol Gcc2
Ensembl Gene ENSMUSG00000038039
Gene Name GRIP and coiled-coil domain containing 2
Synonyms 0610043A03Rik, 2210420P05Rik, 2600014C01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R9240 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 58091319-58141421 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 58106398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 545 (Q545*)
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 null
Transcript: ENSMUST00000057659
AA Change: Q545*
SMART Domains Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: Q545*

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 null
Transcript: ENSMUST00000162041
AA Change: Q509*
SMART Domains Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: Q509*

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 null
Transcript: ENSMUST00000162860
AA Change: Q445*
SMART Domains Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: Q445*

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: 99.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,966,406 (GRCm39) I187V probably benign Het
Adam7 C A 14: 68,747,208 (GRCm39) V584L probably benign Het
Arsg T A 11: 109,463,093 (GRCm39) V451E probably benign Het
Btbd8 A G 5: 107,600,034 (GRCm39) D175G probably benign Het
Cacnb3 C T 15: 98,540,486 (GRCm39) P338L probably benign Het
Cars1 G T 7: 143,138,533 (GRCm39) P218Q probably benign Het
Ccdc180 T C 4: 45,917,566 (GRCm39) probably null Het
Cdh23 C T 10: 60,215,044 (GRCm39) D1431N probably benign Het
Cenpf A T 1: 189,389,167 (GRCm39) V1555D probably benign Het
Creb3l2 T C 6: 37,311,506 (GRCm39) N428D possibly damaging Het
Crebbp A T 16: 3,917,537 (GRCm39) probably null Het
Cstf1 C A 2: 172,217,669 (GRCm39) P94Q probably damaging Het
Dis3l A G 9: 64,217,447 (GRCm39) probably null Het
Dlc1 A T 8: 37,052,005 (GRCm39) D124E probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Eea1 T G 10: 95,776,824 (GRCm39) I5S probably benign Het
F7 A T 8: 13,085,173 (GRCm39) T400S probably damaging Het
Fbxo38 C A 18: 62,651,632 (GRCm39) E558* probably null Het
Fcgr2b C T 1: 170,797,042 (GRCm39) probably null Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Flt1 T C 5: 147,618,676 (GRCm39) N220D probably benign Het
Fzd9 A G 5: 135,278,812 (GRCm39) Y358H probably damaging Het
Gkn3 T C 6: 87,365,789 (GRCm39) N10S probably benign Het
Gls C G 1: 52,207,553 (GRCm39) V604L probably benign Het
Gtf2i T A 5: 134,292,619 (GRCm39) Q375L probably benign Het
Hells A G 19: 38,935,289 (GRCm39) M320V possibly damaging Het
Ints3 T C 3: 90,310,410 (GRCm39) S497G possibly damaging Het
Iqub C A 6: 24,505,622 (GRCm39) L95F probably benign Het
Mat1a G A 14: 40,827,573 (GRCm39) C9Y probably benign Het
Mfsd4b5 A G 10: 39,851,099 (GRCm39) L103P probably damaging Het
Ms4a14 T C 19: 11,281,864 (GRCm39) I231M possibly damaging Het
Muc16 T C 9: 18,449,309 (GRCm39) T7580A unknown Het
Myb A T 10: 21,016,500 (GRCm39) L670Q probably damaging Het
Nisch A G 14: 30,906,988 (GRCm39) L236P unknown Het
Or5d38 A C 2: 87,955,231 (GRCm39) F33V probably benign Het
Plscr4 A T 9: 92,366,934 (GRCm39) M183L probably benign Het
Polr1a T A 6: 71,940,661 (GRCm39) C998* probably null Het
Prokr2 A T 2: 132,223,377 (GRCm39) V55E possibly damaging Het
Prr12 A T 7: 44,684,075 (GRCm39) V1655E probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Rspo1 C T 4: 124,885,132 (GRCm39) L3F probably benign Het
Rtn4rl1 C A 11: 75,156,082 (GRCm39) D171E probably damaging Het
Ryr1 A G 7: 28,743,313 (GRCm39) F3895L probably damaging Het
Scn8a G T 15: 100,915,068 (GRCm39) G1211* probably null Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smarcd3 T A 5: 24,801,831 (GRCm39) M103L probably benign Het
Smg1 A T 7: 117,739,031 (GRCm39) S3458T probably benign Het
Smg6 C T 11: 74,825,884 (GRCm39) R738W probably damaging Het
Spef2 G A 15: 9,578,401 (GRCm39) Q1708* probably null Het
Taf2 A T 15: 54,926,464 (GRCm39) V162E probably null Het
Tbc1d23 A T 16: 57,032,748 (GRCm39) N154K possibly damaging Het
Tbx3 A G 5: 119,818,960 (GRCm39) S532G probably benign Het
Tedc1 T C 12: 113,121,310 (GRCm39) I177T probably benign Het
Tnrc6b G C 15: 80,764,262 (GRCm39) G588A probably damaging Het
Top2a T A 11: 98,901,368 (GRCm39) K519* probably null Het
Trim47 T A 11: 115,999,148 (GRCm39) M243L probably benign Het
Ttn A T 2: 76,641,865 (GRCm39) probably null Het
Uggt1 T C 1: 36,221,696 (GRCm39) E624G possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r9 A G 5: 108,996,099 (GRCm39) V183A possibly damaging Het
Zfp212 T A 6: 47,906,032 (GRCm39) V197E probably benign 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
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
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'- CAGAACTTGGAGAATCTGCTGG -3'
(R):5'- CCTGAGTTCTACAGACAGTCTC -3'

Sequencing Primer
(F):5'- TGGAGAATCTGCTGGAAAAATAAGTC -3'
(R):5'- AGATCATCCATCTCTTCATGGG -3'
Posted On 2022-02-07