Incidental Mutation 'R0988:Rragc'
ID 262399
Institutional Source Beutler Lab
Gene Symbol Rragc
Ensembl Gene ENSMUSG00000028646
Gene Name Ras-related GTP binding C
Synonyms YGR163W, TIB929, Gtr2
MMRRC Submission 039108-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R0988 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 123811239-123830790 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 123818575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030399] [ENSMUST00000155757]
AlphaFold Q99K70
Predicted Effect probably null
Transcript: ENSMUST00000030399
SMART Domains Protein: ENSMUSP00000030399
Gene: ENSMUSG00000028646

DomainStartEndE-ValueType
Pfam:Arf 55 234 5.1e-7 PFAM
Pfam:SRPRB 58 154 9.8e-7 PFAM
Pfam:Gtr1_RagA 62 288 2.1e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155454
Predicted Effect probably benign
Transcript: ENSMUST00000155757
SMART Domains Protein: ENSMUSP00000115232
Gene: ENSMUSG00000028646

DomainStartEndE-ValueType
Pfam:Arf 55 157 1.7e-6 PFAM
Pfam:SRPRB 58 156 6.3e-8 PFAM
Pfam:Gtr1_RagA 62 178 1.5e-30 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 97% (34/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,896,310 (GRCm39) I340V probably benign Het
Ano1 T G 7: 144,187,390 (GRCm39) S459R possibly damaging Het
Cop1 T C 1: 159,060,417 (GRCm39) V67A possibly damaging Het
Cop1 A G 1: 159,072,242 (GRCm39) Y186C probably damaging Het
Cst11 G A 2: 148,612,346 (GRCm39) T97I probably benign Het
Ephb2 T A 4: 136,387,019 (GRCm39) Y736F possibly damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,225,463 (GRCm39) I124T probably damaging Het
Hpn T C 7: 30,799,323 (GRCm39) Y271C possibly damaging Het
Kmt2a A G 9: 44,759,846 (GRCm39) S668P probably benign Het
Krtap4-9 T A 11: 99,676,362 (GRCm39) C94* probably null Het
Lgmn T C 12: 102,364,536 (GRCm39) D311G probably damaging Het
Macroh2a1 T C 13: 56,231,109 (GRCm39) probably null Het
Mfsd14b T C 13: 65,260,307 (GRCm39) probably benign Het
Micu1 C A 10: 59,592,549 (GRCm39) probably benign Het
Muc5b A G 7: 141,425,532 (GRCm39) I4726V probably benign Het
Nadk2 T A 15: 9,103,080 (GRCm39) N310K probably damaging Het
Napg T C 18: 63,116,431 (GRCm39) probably benign Het
Nav3 G A 10: 109,552,389 (GRCm39) R1818W probably damaging Het
Ntpcr T C 8: 126,464,170 (GRCm39) probably benign Het
Or1j13 T C 2: 36,369,779 (GRCm39) D121G probably damaging Het
Or51af1 T A 7: 103,141,954 (GRCm39) I44F probably damaging Het
Or5b99 A G 19: 12,977,151 (GRCm39) D267G probably benign Het
Or6c214 A G 10: 129,590,866 (GRCm39) V151A probably benign Het
Pdia2 A G 17: 26,417,803 (GRCm39) F69L probably damaging Het
Pik3r4 A G 9: 105,564,404 (GRCm39) T1333A probably damaging Het
Platr26 A T 2: 71,553,631 (GRCm39) noncoding transcript Het
Proc T C 18: 32,266,536 (GRCm39) D97G probably benign Het
Ptpn23 C T 9: 110,217,845 (GRCm39) R700H probably benign Het
Serac1 A T 17: 6,111,855 (GRCm39) F244I probably benign Het
Snrpd3 A G 10: 75,368,039 (GRCm39) D52G probably damaging Het
Thrb G T 14: 17,981,837 (GRCm38) probably benign Het
Ttc6 T C 12: 57,735,435 (GRCm39) probably benign Het
Zfp607b T A 7: 27,402,401 (GRCm39) C286S probably benign Het
Other mutations in Rragc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Rragc APN 4 123,813,636 (GRCm39) unclassified probably benign
IGL01067:Rragc APN 4 123,823,761 (GRCm39) missense probably benign 0.12
IGL01843:Rragc APN 4 123,814,852 (GRCm39) missense probably damaging 1.00
IGL02302:Rragc APN 4 123,814,879 (GRCm39) missense possibly damaging 0.65
IGL02368:Rragc APN 4 123,814,904 (GRCm39) missense probably benign 0.11
R0740:Rragc UTSW 4 123,818,556 (GRCm39) missense probably damaging 1.00
R4620:Rragc UTSW 4 123,818,622 (GRCm39) missense probably damaging 0.98
R5169:Rragc UTSW 4 123,829,457 (GRCm39) missense probably damaging 0.96
R5727:Rragc UTSW 4 123,813,828 (GRCm39) missense possibly damaging 0.66
R5729:Rragc UTSW 4 123,818,645 (GRCm39) missense possibly damaging 0.60
R5959:Rragc UTSW 4 123,817,767 (GRCm39) missense probably damaging 1.00
R6197:Rragc UTSW 4 123,811,340 (GRCm39) missense possibly damaging 0.90
R7860:Rragc UTSW 4 123,823,717 (GRCm39) missense probably damaging 0.99
R8008:Rragc UTSW 4 123,829,340 (GRCm39) missense probably damaging 0.96
R9748:Rragc UTSW 4 123,818,658 (GRCm39) missense possibly damaging 0.68
Predicted Primers
Posted On 2015-02-04