Incidental Mutation 'IGL01843:Rragc'
ID178076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rragc
Ensembl Gene ENSMUSG00000028646
Gene NameRas-related GTP binding C
SynonymsTIB929, Gtr2, YGR163W
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.343) question?
Stock #IGL01843
Quality Score
Status
Chromosome4
Chromosomal Location123917446-123936997 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123921059 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 183 (S183P)
Ref Sequence ENSEMBL: ENSMUSP00000030399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030399] [ENSMUST00000155757] [ENSMUST00000181410]
Predicted Effect probably damaging
Transcript: ENSMUST00000030399
AA Change: S183P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030399
Gene: ENSMUSG00000028646
AA Change: S183P

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 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
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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,553,338 probably benign Het
Ap1b1 T C 11: 5,039,169 L782P probably damaging Het
Arid1a T C 4: 133,681,454 D1914G unknown Het
C8a G A 4: 104,862,611 Q57* probably null Het
Cachd1 T C 4: 100,992,872 S1144P probably damaging Het
Cdh23 A T 10: 60,419,819 probably null Het
Cenpe A G 3: 135,218,507 Q198R possibly damaging Het
Cpne8 T C 15: 90,569,497 I228V probably benign Het
Cr2 A T 1: 195,150,914 probably benign Het
Csmd3 T C 15: 47,658,999 probably benign Het
Cyp2c23 A G 19: 44,005,607 V440A probably benign Het
Dag1 T C 9: 108,208,082 D620G possibly damaging Het
Dmxl1 T A 18: 49,878,382 L1202* probably null Het
Dnah3 T G 7: 119,943,575 H3538P probably benign Het
Dock8 A T 19: 25,089,928 Q312L probably benign Het
E2f7 T G 10: 110,774,735 V407G probably benign Het
F13b T C 1: 139,516,427 S500P probably damaging Het
F5 A G 1: 164,211,826 I2002V probably benign Het
Flywch1 T A 17: 23,760,345 M439L possibly damaging Het
Gcn1l1 C A 5: 115,619,700 A2488E probably damaging Het
Gria1 T C 11: 57,317,774 S832P probably damaging Het
Hnrnpr T C 4: 136,339,413 probably benign Het
Hps3 A G 3: 20,029,001 I177T probably benign Het
Irgm2 G A 11: 58,220,341 G298D probably benign Het
Kcnk7 G A 19: 5,706,202 G152D probably damaging Het
Man2a2 T C 7: 80,362,906 T620A probably benign Het
Mapk12 A G 15: 89,137,466 probably benign Het
Mapk6 T C 9: 75,390,290 Y315C probably damaging Het
Mdga2 T A 12: 66,723,131 probably null Het
Met T A 6: 17,491,701 I154N probably damaging Het
Nap1l1 A G 10: 111,492,911 R234G possibly damaging Het
Olfm5 C A 7: 104,160,744 V137F possibly damaging Het
Olfr1423 G T 19: 12,036,677 H22N probably benign Het
Pcdha11 C T 18: 37,012,833 T659I probably benign Het
Pfkm T C 15: 98,129,306 V620A possibly damaging Het
Rbak A G 5: 143,176,600 probably benign Het
Rbl2 A G 8: 91,090,216 I401M probably benign Het
Sept3 A G 15: 82,279,613 probably benign Het
Skiv2l2 T C 13: 112,918,561 probably benign Het
Slc22a6 A T 19: 8,626,214 probably benign Het
Spag4 A T 2: 156,068,497 T348S probably benign Het
Sptbn1 T C 11: 30,104,623 R2157G probably benign Het
Tmem168 G A 6: 13,582,941 T263M probably damaging Het
Tnik T A 3: 28,570,858 probably null Het
Tnpo2 T A 8: 85,050,508 V549E probably damaging Het
Ttll7 A C 3: 146,940,021 K545Q possibly damaging Het
Tubgcp5 T G 7: 55,799,473 D139E probably benign Het
Vmn1r233 T A 17: 20,994,599 N30Y probably damaging Het
Vmn2r25 T G 6: 123,853,003 D63A possibly damaging Het
Vmn2r79 T A 7: 87,037,277 L622Q probably damaging Het
Vmn2r84 T C 10: 130,386,279 M691V probably benign Het
Zc3hc1 A T 6: 30,372,730 probably benign Het
Other mutations in Rragc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Rragc APN 4 123919843 unclassified probably benign
IGL01067:Rragc APN 4 123929968 missense probably benign 0.12
IGL02302:Rragc APN 4 123921086 missense possibly damaging 0.65
IGL02368:Rragc APN 4 123921111 missense probably benign 0.11
R0740:Rragc UTSW 4 123924763 missense probably damaging 1.00
R0988:Rragc UTSW 4 123924782 synonymous probably null
R4620:Rragc UTSW 4 123924829 missense probably damaging 0.98
R5169:Rragc UTSW 4 123935664 missense probably damaging 0.96
R5727:Rragc UTSW 4 123920035 missense possibly damaging 0.66
R5729:Rragc UTSW 4 123924852 missense possibly damaging 0.60
R5959:Rragc UTSW 4 123923974 missense probably damaging 1.00
R6197:Rragc UTSW 4 123917547 missense possibly damaging 0.90
Posted On2014-05-07