Incidental Mutation 'R9006:Gcc2'
ID 685307
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 068836-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R9006 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 58091319-58141421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58103801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 76 (R76C)
Ref Sequence ENSEMBL: ENSMUSP00000054033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057659] [ENSMUST00000160427] [ENSMUST00000162041] [ENSMUST00000162860] [ENSMUST00000162984]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057659
AA Change: R76C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: R76C

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: ENSMUST00000160427
AA Change: R40C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124411
Gene: ENSMUSG00000038039
AA Change: R40C

DomainStartEndE-ValueType
coiled coil region 32 94 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162041
AA Change: R40C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: R40C

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
SMART Domains Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (72/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,665,820 (GRCm39) N267D probably benign Het
Akap1 A T 11: 88,723,996 (GRCm39) M803K possibly damaging Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Ankrd31 T C 13: 96,967,104 (GRCm39) F528L probably benign Het
Arhgef10l A G 4: 140,271,659 (GRCm39) Y624H probably benign Het
Bltp2 T C 11: 78,164,345 (GRCm39) F1182L possibly damaging Het
Cfap73 G A 5: 120,767,760 (GRCm39) Q264* probably null Het
Clca3a2 C A 3: 144,783,789 (GRCm39) A609S probably damaging Het
Cntfr A T 4: 41,661,971 (GRCm39) probably null Het
Cyp2c65 C T 19: 39,070,714 (GRCm39) T299I probably damaging Het
Cyp2j5 G T 4: 96,552,149 (GRCm39) N33K probably benign Het
Dhcr7 T A 7: 143,394,978 (GRCm39) S165T probably benign Het
Dnah10 A T 5: 124,820,783 (GRCm39) D539V probably benign Het
Ebag9 A T 15: 44,503,703 (GRCm39) Q176L probably benign Het
Fbxw20 T A 9: 109,062,530 (GRCm39) probably benign Het
Ftmt A G 18: 52,465,112 (GRCm39) K143E possibly damaging Het
Gcn1 A G 5: 115,719,566 (GRCm39) T354A probably benign Het
Gtf2h1 A G 7: 46,458,262 (GRCm39) M271V probably benign Het
Iah1 G A 12: 21,367,402 (GRCm39) G36D probably damaging Het
Ism2 G T 12: 87,326,969 (GRCm39) D323E probably damaging Het
Itih4 A G 14: 30,612,086 (GRCm39) I184V probably damaging Het
Kdm4d C A 9: 14,374,833 (GRCm39) V342L probably benign Het
Lmbr1 A G 5: 29,551,900 (GRCm39) F62L probably benign Het
Lmo7 TCGGATTCTGTGGC TC 14: 102,155,072 (GRCm39) probably benign Het
Lypd8 T A 11: 58,277,586 (GRCm39) S123T possibly damaging Het
Mical2 T A 7: 111,981,323 (GRCm39) N432K probably benign Het
Mrgprb4 A G 7: 47,848,343 (GRCm39) V195A probably benign Het
Ms4a4c A T 19: 11,396,360 (GRCm39) I106F probably benign Het
Myo6 A G 9: 80,136,140 (GRCm39) T88A unknown Het
Naa35 A G 13: 59,748,842 (GRCm39) D158G possibly damaging Het
Nol12 A G 15: 78,824,291 (GRCm39) E137G possibly damaging Het
Nsun4 A G 4: 115,897,316 (GRCm39) S232P probably damaging Het
Odad2 A T 18: 7,294,516 (GRCm39) N32K probably benign Het
Odam A T 5: 88,040,298 (GRCm39) I255L probably benign Het
Or14j8 A T 17: 38,263,545 (GRCm39) Y123* probably null Het
Or1ad8 A T 11: 50,897,975 (GRCm39) M59L probably damaging Het
Or1e26 T A 11: 73,480,036 (GRCm39) H176L probably benign Het
Or2n1d T C 17: 38,646,723 (GRCm39) V225A possibly damaging Het
Or2w3b G A 11: 58,623,188 (GRCm39) Q268* probably null Het
Or4b1 T G 2: 89,980,327 (GRCm39) T8P probably damaging Het
Pcnx2 T C 8: 126,613,996 (GRCm39) D485G probably benign Het
Polr3b T A 10: 84,467,697 (GRCm39) N92K probably benign Het
Rpgrip1l T A 8: 92,007,436 (GRCm39) M385L probably benign Het
Sdk1 A T 5: 141,923,321 (GRCm39) N314I probably damaging Het
Shc4 T C 2: 125,514,394 (GRCm39) probably benign Het
Slc45a1 A C 4: 150,722,731 (GRCm39) C384W probably damaging Het
Slc4a11 C T 2: 130,532,773 (GRCm39) V227M probably damaging Het
Sorbs2 A C 8: 46,258,858 (GRCm39) S1132R possibly damaging Het
Spata31e3 G A 13: 50,401,589 (GRCm39) H246Y possibly damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Spta1 T A 1: 174,047,537 (GRCm39) I1727K probably damaging Het
Srgap2 T C 1: 131,283,307 (GRCm39) E258G probably damaging Het
Taco1 A T 11: 105,956,931 (GRCm39) probably benign Het
Taf2 A T 15: 54,909,301 (GRCm39) M648K possibly damaging Het
Taf7 A G 18: 37,775,757 (GRCm39) V270A probably benign Het
Tbkbp1 G A 11: 97,029,707 (GRCm39) T483I unknown Het
Tesc A G 5: 118,184,378 (GRCm39) probably null Het
Tgs1 A G 4: 3,595,427 (GRCm39) N532S probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmem196 T A 12: 119,978,510 (GRCm39) C84S probably damaging Het
Topbp1 C T 9: 103,182,499 (GRCm39) probably benign Het
Ttc16 A G 2: 32,652,985 (GRCm39) S615P probably benign Het
Ttc21a T A 9: 119,792,130 (GRCm39) probably benign Het
Tuba3b T C 6: 145,565,564 (GRCm39) V344A possibly damaging Het
Tubgcp4 T C 2: 121,015,251 (GRCm39) F320L probably benign Het
Tusc3 T A 8: 39,538,627 (GRCm39) L222* probably null Het
Ubr4 G A 4: 139,172,003 (GRCm39) probably null Het
Uncx G T 5: 139,532,936 (GRCm39) V334L possibly damaging Het
Vezf1 C A 11: 87,965,542 (GRCm39) F261L probably damaging Het
Vezt T A 10: 93,809,874 (GRCm39) I556L probably benign Het
Vmn1r172 C T 7: 23,359,402 (GRCm39) R96C probably benign Het
Zfp383 A G 7: 29,608,070 (GRCm39) M1V probably null Het
Zfp558 A T 9: 18,367,776 (GRCm39) S337R possibly damaging Het
Zranb1 T A 7: 132,572,909 (GRCm39) 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
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'- TCTTTGTTTAGCTATGAACCCCATTT -3'
(R):5'- TACCTTGTTAAGCATCCCAGGC -3'

Sequencing Primer
(F):5'- AGTCCCCTATCAGATTTAGGATTGG -3'
(R):5'- ATCCATGCTTGGCTAGATTAGATGC -3'
Posted On 2021-10-11