Incidental Mutation 'IGL03118:Rictor'
ID 409884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rictor
Ensembl Gene ENSMUSG00000050310
Gene Name RPTOR independent companion of MTOR, complex 2
Synonyms D530039E11Rik, 4921505C17Rik, 6030405M08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03118
Quality Score
Status
Chromosome 15
Chromosomal Location 6737860-6829882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6788999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 205 (R205Q)
Ref Sequence ENSEMBL: ENSMUSP00000051809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061656]
AlphaFold Q6QI06
Predicted Effect possibly damaging
Transcript: ENSMUST00000061656
AA Change: R205Q

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: R205Q

DomainStartEndE-ValueType
RICTOR_N 57 439 4.02e-185 SMART
RICTOR_M 523 742 5.66e-98 SMART
RasGEF_N_2 743 857 1.26e-54 SMART
RICTOR_V 920 992 1.44e-40 SMART
low complexity region 1019 1043 N/A INTRINSIC
RICTOR_phospho 1084 1189 4.06e-58 SMART
low complexity region 1221 1239 N/A INTRINSIC
low complexity region 1255 1266 N/A INTRINSIC
low complexity region 1273 1287 N/A INTRINSIC
low complexity region 1404 1414 N/A INTRINSIC
low complexity region 1464 1474 N/A INTRINSIC
low complexity region 1616 1628 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228918
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis associated with abnormal placental morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,619,424 (GRCm39) G921S probably benign Het
Abca8b T C 11: 109,838,007 (GRCm39) T1082A possibly damaging Het
B9d2 T C 7: 25,380,901 (GRCm39) probably null Het
Bfsp1 T C 2: 143,669,253 (GRCm39) E442G possibly damaging Het
Bpifb5 C T 2: 154,078,673 (GRCm39) probably benign Het
Ccl1 A G 11: 82,068,896 (GRCm39) I47T probably damaging Het
Cln3 T C 7: 126,174,569 (GRCm39) I285V probably null Het
Cyp4a12b G T 4: 115,290,173 (GRCm39) R242I possibly damaging Het
Dcc T C 18: 71,553,344 (GRCm39) T771A probably benign Het
Erbb4 T C 1: 68,081,878 (GRCm39) D1052G probably benign Het
Fcnb T C 2: 27,966,630 (GRCm39) N301S probably benign Het
Gm28043 A C 17: 29,853,705 (GRCm39) E403A probably damaging Het
Gria4 A G 9: 4,793,804 (GRCm39) probably benign Het
Ighv5-12 T A 12: 113,666,198 (GRCm39) M1L probably benign Het
Il17rd A G 14: 26,815,352 (GRCm39) probably null Het
Kcnn3 T A 3: 89,574,468 (GRCm39) L660Q probably damaging Het
Lcor C T 19: 41,546,808 (GRCm39) P131S probably damaging Het
Leng1 T C 7: 3,668,409 (GRCm39) N13S probably damaging Het
Loxhd1 T C 18: 77,468,160 (GRCm39) V827A probably damaging Het
Mapk13 A G 17: 28,996,709 (GRCm39) Y208C probably benign Het
Mybpc3 T C 2: 90,954,848 (GRCm39) V453A probably damaging Het
Odam T C 5: 88,033,613 (GRCm39) S15P unknown Het
Or11l3 A T 11: 58,516,269 (GRCm39) V201D probably damaging Het
Or8d1 A T 9: 38,766,526 (GRCm39) H56L probably damaging Het
Pcdhb19 T C 18: 37,632,618 (GRCm39) probably benign Het
Per2 G T 1: 91,372,341 (GRCm39) Y244* probably null Het
Pik3ca A T 3: 32,514,084 (GRCm39) I857F probably damaging Het
Pold1 T A 7: 44,188,824 (GRCm39) I447F probably benign Het
Ppm1f T A 16: 16,731,942 (GRCm39) W131R probably null Het
Ppp2r2c A G 5: 37,083,660 (GRCm39) Y67C probably damaging Het
Psmb10 A T 8: 106,663,532 (GRCm39) H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 (GRCm39) A149V probably benign Het
Pygb T A 2: 150,662,731 (GRCm39) V566E probably benign Het
Ryr1 T A 7: 28,715,211 (GRCm39) R4638W unknown Het
Semp2l2a C T 8: 13,888,096 (GRCm39) probably benign Het
Septin3 G A 15: 82,168,715 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,313 (GRCm39) D198V probably benign Het
Slc27a6 C A 18: 58,689,815 (GRCm39) H94N probably benign Het
Taf2 C T 15: 54,915,559 (GRCm39) V456M probably damaging Het
Tbpl2 T C 2: 23,977,301 (GRCm39) E238G probably benign Het
Ttn C T 2: 76,584,551 (GRCm39) V20440I possibly damaging Het
Zfp638 T A 6: 83,912,000 (GRCm39) probably benign Het
Zfp865 T C 7: 5,037,644 (GRCm39) probably benign Het
Other mutations in Rictor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Rictor APN 15 6,816,071 (GRCm39) missense probably damaging 0.99
IGL00785:Rictor APN 15 6,806,431 (GRCm39) missense probably damaging 1.00
IGL00801:Rictor APN 15 6,824,015 (GRCm39) missense probably damaging 1.00
IGL01072:Rictor APN 15 6,819,043 (GRCm39) missense probably damaging 0.98
IGL01139:Rictor APN 15 6,807,749 (GRCm39) missense probably damaging 1.00
IGL01303:Rictor APN 15 6,738,119 (GRCm39) missense probably benign 0.10
IGL01307:Rictor APN 15 6,804,085 (GRCm39) splice site probably null
IGL01767:Rictor APN 15 6,806,865 (GRCm39) missense probably damaging 1.00
IGL01774:Rictor APN 15 6,799,258 (GRCm39) missense probably damaging 1.00
IGL01800:Rictor APN 15 6,804,182 (GRCm39) missense probably damaging 0.99
IGL02192:Rictor APN 15 6,815,895 (GRCm39) missense probably benign 0.00
IGL02503:Rictor APN 15 6,815,924 (GRCm39) missense probably benign 0.06
IGL02652:Rictor APN 15 6,805,668 (GRCm39) critical splice donor site probably null
IGL02656:Rictor APN 15 6,806,401 (GRCm39) missense probably damaging 0.98
IGL02752:Rictor APN 15 6,816,852 (GRCm39) missense probably benign 0.02
IGL03000:Rictor APN 15 6,798,721 (GRCm39) splice site probably benign
IGL03182:Rictor APN 15 6,819,079 (GRCm39) missense probably benign 0.08
Tense UTSW 15 6,788,977 (GRCm39) missense possibly damaging 0.94
Tonus UTSW 15 6,798,815 (GRCm39) critical splice donor site probably null
Torrid UTSW 15 6,789,053 (GRCm39) missense probably damaging 1.00
R0149:Rictor UTSW 15 6,813,588 (GRCm39) missense possibly damaging 0.76
R0288:Rictor UTSW 15 6,816,021 (GRCm39) missense probably benign 0.08
R0304:Rictor UTSW 15 6,815,852 (GRCm39) splice site probably null
R0336:Rictor UTSW 15 6,806,234 (GRCm39) critical splice acceptor site probably null
R0361:Rictor UTSW 15 6,813,588 (GRCm39) missense possibly damaging 0.76
R0423:Rictor UTSW 15 6,803,381 (GRCm39) missense possibly damaging 0.77
R0453:Rictor UTSW 15 6,738,123 (GRCm39) missense probably benign 0.01
R0515:Rictor UTSW 15 6,798,782 (GRCm39) missense probably damaging 1.00
R0630:Rictor UTSW 15 6,823,973 (GRCm39) missense probably damaging 1.00
R0730:Rictor UTSW 15 6,803,467 (GRCm39) splice site probably benign
R0744:Rictor UTSW 15 6,793,759 (GRCm39) critical splice acceptor site probably null
R0836:Rictor UTSW 15 6,793,759 (GRCm39) critical splice acceptor site probably null
R0881:Rictor UTSW 15 6,821,151 (GRCm39) missense probably benign
R1114:Rictor UTSW 15 6,823,486 (GRCm39) nonsense probably null
R1367:Rictor UTSW 15 6,820,119 (GRCm39) splice site probably benign
R1655:Rictor UTSW 15 6,801,693 (GRCm39) missense probably benign 0.00
R1678:Rictor UTSW 15 6,785,952 (GRCm39) missense probably benign 0.07
R1679:Rictor UTSW 15 6,797,571 (GRCm39) missense possibly damaging 0.92
R1754:Rictor UTSW 15 6,764,849 (GRCm39) missense probably damaging 1.00
R1757:Rictor UTSW 15 6,803,343 (GRCm39) missense possibly damaging 0.95
R1762:Rictor UTSW 15 6,786,054 (GRCm39) missense probably benign 0.00
R1914:Rictor UTSW 15 6,789,053 (GRCm39) missense probably damaging 1.00
R1915:Rictor UTSW 15 6,789,053 (GRCm39) missense probably damaging 1.00
R1994:Rictor UTSW 15 6,805,637 (GRCm39) missense probably benign 0.18
R2145:Rictor UTSW 15 6,794,588 (GRCm39) missense probably damaging 1.00
R2182:Rictor UTSW 15 6,801,685 (GRCm39) missense probably damaging 0.96
R2191:Rictor UTSW 15 6,789,095 (GRCm39) missense probably benign 0.04
R2357:Rictor UTSW 15 6,813,043 (GRCm39) missense probably damaging 0.99
R2914:Rictor UTSW 15 6,799,476 (GRCm39) critical splice donor site probably null
R3082:Rictor UTSW 15 6,804,338 (GRCm39) missense probably benign 0.15
R3885:Rictor UTSW 15 6,789,091 (GRCm39) missense probably damaging 1.00
R3900:Rictor UTSW 15 6,818,954 (GRCm39) missense probably benign 0.01
R4376:Rictor UTSW 15 6,816,448 (GRCm39) missense probably benign 0.00
R4611:Rictor UTSW 15 6,816,625 (GRCm39) missense possibly damaging 0.75
R4644:Rictor UTSW 15 6,807,416 (GRCm39) nonsense probably null
R4718:Rictor UTSW 15 6,812,641 (GRCm39) missense possibly damaging 0.81
R4822:Rictor UTSW 15 6,821,161 (GRCm39) missense probably benign 0.01
R4980:Rictor UTSW 15 6,811,141 (GRCm39) missense probably damaging 1.00
R5034:Rictor UTSW 15 6,797,576 (GRCm39) missense probably damaging 0.98
R5179:Rictor UTSW 15 6,825,421 (GRCm39) missense probably damaging 1.00
R5386:Rictor UTSW 15 6,818,985 (GRCm39) missense probably benign 0.37
R5532:Rictor UTSW 15 6,819,046 (GRCm39) missense probably damaging 1.00
R5549:Rictor UTSW 15 6,816,391 (GRCm39) missense probably damaging 1.00
R5715:Rictor UTSW 15 6,780,197 (GRCm39) nonsense probably null
R5733:Rictor UTSW 15 6,812,585 (GRCm39) missense probably benign
R5822:Rictor UTSW 15 6,823,487 (GRCm39) missense probably benign 0.00
R5848:Rictor UTSW 15 6,823,487 (GRCm39) missense probably benign 0.00
R5849:Rictor UTSW 15 6,823,487 (GRCm39) missense probably benign 0.00
R5850:Rictor UTSW 15 6,823,487 (GRCm39) missense probably benign 0.00
R5854:Rictor UTSW 15 6,823,487 (GRCm39) missense probably benign 0.00
R5855:Rictor UTSW 15 6,823,487 (GRCm39) missense probably benign 0.00
R5856:Rictor UTSW 15 6,823,487 (GRCm39) missense probably benign 0.00
R5936:Rictor UTSW 15 6,813,642 (GRCm39) missense probably damaging 0.99
R6155:Rictor UTSW 15 6,823,458 (GRCm39) missense probably benign 0.44
R6394:Rictor UTSW 15 6,798,790 (GRCm39) missense possibly damaging 0.59
R6549:Rictor UTSW 15 6,825,656 (GRCm39) missense probably damaging 1.00
R6611:Rictor UTSW 15 6,780,140 (GRCm39) missense probably damaging 1.00
R6657:Rictor UTSW 15 6,788,977 (GRCm39) missense possibly damaging 0.94
R6705:Rictor UTSW 15 6,823,493 (GRCm39) missense probably benign 0.00
R6819:Rictor UTSW 15 6,825,517 (GRCm39) critical splice donor site probably null
R6985:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R6989:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7016:Rictor UTSW 15 6,804,361 (GRCm39) critical splice donor site probably null
R7030:Rictor UTSW 15 6,737,934 (GRCm39) critical splice donor site probably null
R7066:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7067:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7216:Rictor UTSW 15 6,798,782 (GRCm39) missense probably damaging 1.00
R7396:Rictor UTSW 15 6,816,462 (GRCm39) missense not run
R7449:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7450:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7452:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7616:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7620:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7643:Rictor UTSW 15 6,798,750 (GRCm39) nonsense probably null
R7699:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7700:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7749:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7750:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7751:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7753:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7841:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7894:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7897:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7898:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7937:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R7944:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R8062:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R8063:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R8094:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R8119:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R8134:Rictor UTSW 15 6,801,635 (GRCm39) missense probably benign 0.27
R8166:Rictor UTSW 15 6,798,815 (GRCm39) critical splice donor site probably null
R8324:Rictor UTSW 15 6,775,043 (GRCm39) missense probably damaging 1.00
R8343:Rictor UTSW 15 6,807,800 (GRCm39) critical splice donor site probably null
R8691:Rictor UTSW 15 6,816,513 (GRCm39) missense probably damaging 1.00
R8859:Rictor UTSW 15 6,813,067 (GRCm39) missense probably damaging 0.98
R8953:Rictor UTSW 15 6,823,928 (GRCm39) missense probably benign 0.39
R8977:Rictor UTSW 15 6,812,566 (GRCm39) missense probably benign
R9008:Rictor UTSW 15 6,801,610 (GRCm39) splice site probably benign
R9369:Rictor UTSW 15 6,773,848 (GRCm39) missense probably benign 0.00
R9563:Rictor UTSW 15 6,797,562 (GRCm39) missense possibly damaging 0.83
R9695:Rictor UTSW 15 6,816,010 (GRCm39) missense probably benign 0.00
X0020:Rictor UTSW 15 6,785,963 (GRCm39) missense probably benign 0.32
X0060:Rictor UTSW 15 6,816,033 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02