Incidental Mutation 'R6197:Rragc'
ID 502971
Institutional Source Beutler Lab
Gene Symbol Rragc
Ensembl Gene ENSMUSG00000028646
Gene Name Ras-related GTP binding C
Synonyms YGR163W, TIB929, Gtr2
MMRRC Submission 044337-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R6197 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 123811239-123830790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123811340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 5 (Y5C)
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: Y5C

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030399
Gene: ENSMUSG00000028646
AA Change: Y5C

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: Y5C

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115232
Gene: ENSMUSG00000028646
AA Change: Y5C

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 unknown
Transcript: ENSMUST00000181410
AA Change: V159A
SMART Domains Protein: ENSMUSP00000137693
Gene: ENSMUSG00000096969
AA Change: V159A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 92% (49/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T A 5: 3,630,442 (GRCm39) Y119* probably null Het
Abcb9 C A 5: 124,209,812 (GRCm39) E664* probably null Het
Adgrl2 T C 3: 148,564,578 (GRCm39) D334G probably damaging Het
Ak9 T G 10: 41,193,826 (GRCm39) C57G probably damaging Het
Als2cl A G 9: 110,724,952 (GRCm39) K809E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp11a A G 8: 12,896,099 (GRCm39) I223V probably benign Het
Cacna2d3 A T 14: 28,630,278 (GRCm39) V1022E probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Cd37 A G 7: 44,886,598 (GRCm39) C85R probably damaging Het
Ces1g T C 8: 94,063,764 (GRCm39) S7G probably benign Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnbd2 A G 2: 156,217,494 (GRCm39) E661G possibly damaging Het
Col6a3 A T 1: 90,750,063 (GRCm39) F257Y probably damaging Het
Cpt1b T C 15: 89,309,037 (GRCm39) Y55C possibly damaging Het
Csmd1 A G 8: 15,976,611 (GRCm39) V2869A probably benign Het
Dnah11 T C 12: 118,143,482 (GRCm39) E387G probably benign Het
Eny2 T A 15: 44,292,949 (GRCm39) probably null Het
Fbxo10 G T 4: 45,043,857 (GRCm39) H655Q probably benign Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Gpx2 C T 12: 76,842,068 (GRCm39) G28S probably damaging Het
H2-Q5 G T 17: 35,613,918 (GRCm39) A156S probably benign Het
Hoxd4 A G 2: 74,558,807 (GRCm39) D210G possibly damaging Het
Hoxd9 A G 2: 74,529,166 (GRCm39) Q256R probably damaging Het
Macf1 A G 4: 123,346,085 (GRCm39) V2571A probably damaging Het
Mtus1 A G 8: 41,537,074 (GRCm39) V214A possibly damaging Het
Myh1 C T 11: 67,111,793 (GRCm39) A1716V probably benign Het
Nbeal1 A G 1: 60,261,287 (GRCm39) D249G probably damaging Het
Nup54 TCTGCTGCTGCTGCTGCTGCTGCTG TCTGCTGCTGCTGCTGCTGCTG 5: 92,578,663 (GRCm39) probably benign Het
Or10v9 G T 19: 11,833,148 (GRCm39) H56Q probably damaging Het
Or4c124 A T 2: 89,155,677 (GRCm39) N282K probably damaging Het
Or5w17 C T 2: 87,583,696 (GRCm39) V214I probably benign Het
Or7a37 T G 10: 78,805,974 (GRCm39) L164V probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pramel23 T C 4: 143,423,886 (GRCm39) Y301C possibly damaging Het
Prss59 A G 6: 40,897,939 (GRCm39) I248T probably benign Het
Pwwp2a A G 11: 43,595,423 (GRCm39) D196G probably benign Het
Rarg A T 15: 102,150,327 (GRCm39) C93S possibly damaging Het
Rcc1 T C 4: 132,065,073 (GRCm39) D150G possibly damaging Het
Ripk2 A G 4: 16,163,330 (GRCm39) Y23H probably damaging Het
Rubcnl G A 14: 75,269,369 (GRCm39) G9D probably damaging Het
Sephs2 A T 7: 126,872,073 (GRCm39) V340E probably damaging Het
Slc22a3 C T 17: 12,677,438 (GRCm39) M243I probably benign Het
Slco6c1 A G 1: 97,000,518 (GRCm39) probably null Het
Sncaip T G 18: 53,039,966 (GRCm39) I308R probably damaging Het
Supt16 G A 14: 52,408,338 (GRCm39) T869M probably damaging Het
Tanc1 G A 2: 59,674,366 (GRCm39) E1817K possibly damaging Het
Usp4 C A 9: 108,248,154 (GRCm39) Q395K probably damaging Het
Usp49 T A 17: 47,984,272 (GRCm39) S210T possibly damaging Het
Virma A G 4: 11,505,498 (GRCm39) I124M probably damaging Het
Vmn1r234 G A 17: 21,449,589 (GRCm39) V168I probably benign Het
Vnn3 T A 10: 23,732,187 (GRCm39) C146S probably damaging Het
Ylpm1 A G 12: 85,088,953 (GRCm39) D1234G probably damaging Het
Zfp617 T A 8: 72,687,098 (GRCm39) V476E 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
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
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
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'- AGCCAATAATAAACCGAAGCTTGG -3'
(R):5'- CCTTCTGGATGGAGGATTTGCC -3'

Sequencing Primer
(F):5'- AATCGGAGCTGGGCTTATGG -3'
(R):5'- ATAAGCAGGATCCTCGGCTTG -3'
Posted On 2018-02-27