Incidental Mutation 'R7751:Rictor'
ID 597262
Institutional Source Beutler Lab
Gene Symbol Rictor
Ensembl Gene ENSMUSG00000050310
Gene Name RPTOR independent companion of MTOR, complex 2
Synonyms D530039E11Rik, 4921505C17Rik, 6030405M08Rik
MMRRC Submission 045807-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7751 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 6737860-6829882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6801635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 441 (S441L)
Ref Sequence ENSEMBL: ENSMUSP00000051809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061656]
AlphaFold Q6QI06
Predicted Effect probably benign
Transcript: ENSMUST00000061656
AA Change: S441L

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: S441L

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
Meta Mutation Damage Score 0.1015 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (82/84)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,965,044 (GRCm39) I769F possibly damaging Het
Ackr1 A C 1: 173,159,779 (GRCm39) W247G probably damaging Het
Adgrl4 G A 3: 151,197,946 (GRCm39) G69S probably damaging Het
Agrn C T 4: 156,260,886 (GRCm39) S710N probably damaging Het
Aox3 A G 1: 58,218,494 (GRCm39) M1103V probably benign Het
Asb18 G A 1: 89,896,206 (GRCm39) A278V probably benign Het
B3gat2 A G 1: 23,801,945 (GRCm39) E77G probably benign Het
Camta1 T C 4: 151,232,863 (GRCm39) probably null Het
Cbll1 A T 12: 31,537,579 (GRCm39) I392N probably damaging Het
Ccdc113 A G 8: 96,264,829 (GRCm39) D113G possibly damaging Het
Cd79a T C 7: 24,599,092 (GRCm39) F148L probably benign Het
Chad T A 11: 94,455,999 (GRCm39) C26S probably damaging Het
Cog4 T C 8: 111,607,600 (GRCm39) F696L probably damaging Het
Csf2rb T G 15: 78,225,839 (GRCm39) S303R probably damaging Het
Cstpp1 A T 2: 91,214,118 (GRCm39) L79H probably damaging Het
Cubn C T 2: 13,365,176 (GRCm39) G1621R probably damaging Het
Dennd4c T A 4: 86,747,179 (GRCm39) N1454K probably benign Het
Dennd5b T C 6: 148,918,604 (GRCm39) I853V probably benign Het
Dnaaf11 T C 15: 66,321,412 (GRCm39) E243G probably benign Het
Dop1a A T 9: 86,389,783 (GRCm39) D561V probably benign Het
Dpysl4 A G 7: 138,669,456 (GRCm39) I45V probably benign Het
Ect2l A C 10: 18,045,153 (GRCm39) S301A possibly damaging Het
Elf2 A G 3: 51,165,035 (GRCm39) V323A probably damaging Het
Epcam C T 17: 87,947,904 (GRCm39) R125* probably null Het
Ephb4 T C 5: 137,363,937 (GRCm39) V612A probably damaging Het
Erich3 C T 3: 154,469,426 (GRCm39) R1293C unknown Het
F830045P16Rik C A 2: 129,302,367 (GRCm39) L408F probably damaging Het
Gask1a G A 9: 121,793,887 (GRCm39) V14I probably benign Het
Gm13102 T C 4: 143,835,787 (GRCm39) I485T probably benign Het
Gm16494 A T 17: 47,327,800 (GRCm39) L28* probably null Het
Grin2c A G 11: 115,144,696 (GRCm39) V610A probably damaging Het
Hacd2 T A 16: 34,922,434 (GRCm39) Y208N probably damaging Het
Hlf A T 11: 90,278,821 (GRCm39) F81Y probably damaging Het
Igfbp7 G A 5: 77,499,134 (GRCm39) A257V probably damaging Het
Il12a A T 3: 68,605,235 (GRCm39) N167I probably damaging Het
Il1r2 G A 1: 40,162,371 (GRCm39) C338Y probably damaging Het
Irf2bpl G T 12: 86,930,489 (GRCm39) H61Q probably damaging Het
Kansl1 A G 11: 104,314,890 (GRCm39) F383L probably benign Het
Kcnh8 A G 17: 53,268,871 (GRCm39) T863A probably damaging Het
Klhl36 C A 8: 120,596,397 (GRCm39) Q33K probably benign Het
Lrig2 A T 3: 104,401,985 (GRCm39) Y113* probably null Het
Lrrc36 T A 8: 106,178,667 (GRCm39) S287R possibly damaging Het
Mr1 A T 1: 155,005,054 (GRCm39) Y329N probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Nectin4 G A 1: 171,211,326 (GRCm39) probably null Het
Nsrp1 A G 11: 76,940,097 (GRCm39) probably null Het
Or1e21 A T 11: 73,344,372 (GRCm39) I222N possibly damaging Het
Or9g3 A G 2: 85,583,836 (GRCm39) T44A probably benign Het
Pcdh8 A T 14: 80,008,143 (GRCm39) I140N probably damaging Het
Pdzd8 A G 19: 59,333,208 (GRCm39) V271A probably damaging Het
Pex3 T A 10: 13,403,550 (GRCm39) I324L possibly damaging Het
Pira12 T A 7: 3,898,603 (GRCm39) I282F probably damaging Het
Pitpnm1 T A 19: 4,153,470 (GRCm39) F209I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,271,149 (GRCm39) T3135S probably damaging Het
Pramel32 T C 4: 88,547,356 (GRCm39) D192G probably benign Het
Prdm16 T C 4: 154,412,756 (GRCm39) N1082S probably damaging Het
Psmd12 A T 11: 107,370,439 (GRCm39) I13F possibly damaging Het
Ptgs2 A T 1: 149,980,258 (GRCm39) I399F probably benign Het
Rasa3 A T 8: 13,618,708 (GRCm39) S830T probably benign Het
Rasgef1c A T 11: 49,861,120 (GRCm39) R362W probably damaging Het
Resf1 A G 6: 149,226,936 (GRCm39) probably benign Het
Rnf217 C A 10: 31,393,415 (GRCm39) G389W probably damaging Het
Sec16b A T 1: 157,385,630 (GRCm39) D675V probably damaging Het
Serpinb12 A G 1: 106,877,401 (GRCm39) Y137C probably damaging Het
Slc2a5 T A 4: 150,227,591 (GRCm39) I470N probably damaging Het
Slc5a1 T C 5: 33,290,761 (GRCm39) I115T possibly damaging Het
Slco1a4 A T 6: 141,780,413 (GRCm39) S126T possibly damaging Het
St6galnac2 T C 11: 116,568,410 (GRCm39) D351G probably damaging Het
Stat4 G A 1: 52,121,711 (GRCm39) V357M possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tdrd9 T A 12: 111,958,982 (GRCm39) C139S probably benign Het
Tmed9 G A 13: 55,741,054 (GRCm39) R23Q not run Het
Tmem150a A C 6: 72,336,028 (GRCm39) H205P probably damaging Het
Tns2 C A 15: 102,018,163 (GRCm39) L350I probably benign Het
Tpr A G 1: 150,295,646 (GRCm39) T964A probably benign Het
Traf3ip1 G T 1: 91,422,479 (GRCm39) probably benign Het
Trem2 G T 17: 48,653,567 (GRCm39) probably benign Het
Ttc14 G A 3: 33,863,590 (GRCm39) G666D unknown Het
Ulk1 T C 5: 110,957,078 (GRCm39) D40G probably damaging Het
Vmn1r30 A G 6: 58,412,397 (GRCm39) V145A probably benign Het
Vmn1r79 C T 7: 11,910,762 (GRCm39) Q215* probably null Het
Wnk2 G A 13: 49,231,493 (GRCm39) T16I unknown Het
Yme1l1 T C 2: 23,077,856 (GRCm39) probably null Het
Zbtb16 T A 9: 48,654,769 (GRCm39) H454L probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zrsr2-ps1 A G 11: 22,923,595 (GRCm39) Q123R possibly damaging 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
IGL03118:Rictor APN 15 6,788,999 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- GATTGGCAACTTTTAGAAGCCA -3'
(R):5'- AGAATTGTAACTTCCCCTTCTTGG -3'

Sequencing Primer
(F):5'- CCATGTAGATCCTGGGATAGAACTC -3'
(R):5'- ACACAACCTATCAACTCCTTGTTTTC -3'
Posted On 2019-11-26