Incidental Mutation 'R5727:Rragc'
ID 452549
Institutional Source Beutler Lab
Gene Symbol Rragc
Ensembl Gene ENSMUSG00000028646
Gene Name Ras-related GTP binding C
Synonyms YGR163W, TIB929, Gtr2
MMRRC Submission 043190-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R5727 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 123811239-123830790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123813828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 141 (Y141H)
Ref Sequence ENSEMBL: ENSMUSP00000115232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030399] [ENSMUST00000155757] [ENSMUST00000181410]
AlphaFold Q99K70
Predicted Effect possibly damaging
Transcript: ENSMUST00000030399
AA Change: Y141H

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030399
Gene: ENSMUSG00000028646
AA Change: Y141H

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: ENSMUST00000133445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155454
Predicted Effect possibly damaging
Transcript: ENSMUST00000155757
AA Change: Y141H

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115232
Gene: ENSMUSG00000028646
AA Change: Y141H

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
Predicted Effect probably benign
Transcript: ENSMUST00000181410
SMART Domains Protein: ENSMUSP00000137693
Gene: ENSMUSG00000096969

DomainStartEndE-ValueType
low complexity region 54 83 N/A INTRINSIC
low complexity region 105 123 N/A INTRINSIC
low complexity region 164 172 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 C A 14: 29,712,838 (GRCm39) L494M probably benign Het
Ahnak G T 19: 8,994,111 (GRCm39) A5132S probably damaging Het
Cadps G A 14: 12,486,525 (GRCm38) Q882* probably null Het
Cdhr2 G A 13: 54,872,121 (GRCm39) V662M possibly damaging Het
Cdyl2 T A 8: 117,309,907 (GRCm39) I350F probably damaging Het
Cfap44 T G 16: 44,255,805 (GRCm39) F966V probably damaging Het
Cpxm1 G A 2: 130,232,883 (GRCm39) R704* probably null Het
Dnah11 A T 12: 118,090,841 (GRCm39) F1034L probably damaging Het
Dpep2 A G 8: 106,713,075 (GRCm39) V440A probably benign Het
Ehmt2 A T 17: 35,125,008 (GRCm39) M11L possibly damaging Het
Eml2 C T 7: 18,924,685 (GRCm39) H185Y probably damaging Het
Gm10845 T A 14: 80,100,770 (GRCm39) noncoding transcript Het
Gm8122 T G 14: 43,091,477 (GRCm39) N97T unknown Het
Gnb1 A G 4: 155,639,559 (GRCm39) T263A probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ier5l A G 2: 30,363,171 (GRCm39) C285R possibly damaging Het
Kif21b A G 1: 136,097,747 (GRCm39) N1336D probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lama1 A G 17: 68,122,219 (GRCm39) H2722R possibly damaging Het
Mdm2 A G 10: 117,538,212 (GRCm39) M13T possibly damaging Het
Micall1 T A 15: 79,014,678 (GRCm39) Y685N possibly damaging Het
Mthfd1l T G 10: 4,053,302 (GRCm39) S884A possibly damaging Het
Nkiras2 A G 11: 100,515,853 (GRCm39) Y60C probably damaging Het
Oc90 T G 15: 65,753,388 (GRCm39) R342S possibly damaging Het
Or11h23 C A 14: 50,947,817 (GRCm39) T10K possibly damaging Het
Or1j4 T C 2: 36,740,544 (GRCm39) L162P possibly damaging Het
Or4k35 T A 2: 111,100,197 (GRCm39) R172* probably null Het
Or4p20 T A 2: 88,253,791 (GRCm39) I193F probably benign Het
Or9s13 A G 1: 92,547,900 (GRCm39) N91D probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp9 G T 16: 35,784,467 (GRCm39) E507* probably null Het
Pex13 A G 11: 23,605,705 (GRCm39) I175T probably benign Het
Phf12 A G 11: 77,914,370 (GRCm39) E604G probably damaging Het
Ppfia4 A T 1: 134,251,815 (GRCm39) probably null Het
Slc35g3 A G 11: 69,651,280 (GRCm39) V257A probably benign Het
Snx5 T C 2: 144,102,674 (GRCm39) T80A probably benign Het
Sorcs2 G A 5: 36,188,630 (GRCm39) A826V possibly damaging Het
Sptb G A 12: 76,669,888 (GRCm39) A480V probably benign Het
Tmem161b T A 13: 84,434,909 (GRCm39) S302R possibly damaging Het
Ube2o A T 11: 116,430,496 (GRCm39) F1081I probably damaging Het
Vmn2r2 T C 3: 64,024,608 (GRCm39) I658V probably benign Het
Vwa3b T G 1: 37,174,600 (GRCm39) L672V probably benign Het
Wscd2 T C 5: 113,715,411 (GRCm39) F417S possibly damaging 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
R0988:Rragc UTSW 4 123,818,575 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- TGGTGTTTCATAAGATGTCACCC -3'
(R):5'- AGAAAGCCAATGGTAACGGTTC -3'

Sequencing Primer
(F):5'- CCCAATGAGACTCTCTTTTTGGAAAG -3'
(R):5'- CGGTTCATTATGTAAATGGCAGCTCC -3'
Posted On 2017-01-03