Incidental Mutation 'IGL02192:Rictor'
ID 283926
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 # IGL02192
Quality Score
Status
Chromosome 15
Chromosomal Location 6737860-6829882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6815895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1056 (S1056P)
Ref Sequence ENSEMBL: ENSMUSP00000051809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061656]
AlphaFold Q6QI06
Predicted Effect probably benign
Transcript: ENSMUST00000061656
AA Change: S1056P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: S1056P

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,825 (GRCm39) M545K possibly damaging Het
Adamtsl1 A G 4: 86,146,253 (GRCm39) E303G probably damaging Het
Anxa13 A T 15: 58,220,628 (GRCm39) noncoding transcript Het
Ap2b1 C T 11: 83,237,592 (GRCm39) T552I possibly damaging Het
Cars1 T C 7: 143,125,325 (GRCm39) S388G probably damaging Het
Cdh18 A T 15: 23,460,402 (GRCm39) D544V probably damaging Het
Chat T C 14: 32,145,279 (GRCm39) R377G possibly damaging Het
Col14a1 A G 15: 55,225,798 (GRCm39) T154A unknown Het
Col9a1 C T 1: 24,261,068 (GRCm39) P311S probably damaging Het
Cpsf3 G T 12: 21,360,194 (GRCm39) probably benign Het
Cpsf3 G T 12: 21,360,197 (GRCm39) probably null Het
Dock8 T C 19: 25,055,569 (GRCm39) probably null Het
Eml6 A G 11: 29,755,743 (GRCm39) I837T probably benign Het
Epb41 T C 4: 131,657,028 (GRCm39) T792A probably damaging Het
Exph5 A T 9: 53,287,625 (GRCm39) R1569* probably null Het
F13b A T 1: 139,445,071 (GRCm39) T574S probably damaging Het
Fam184b G T 5: 45,695,062 (GRCm39) D727E probably benign Het
Fhip1a A G 3: 85,580,633 (GRCm39) L524P possibly damaging Het
Fhod3 T C 18: 25,189,415 (GRCm39) L619P probably damaging Het
Fsd1l A G 4: 53,647,754 (GRCm39) I66V probably benign Het
Fv1 A G 4: 147,954,712 (GRCm39) D426G possibly damaging Het
Gm3371 A T 14: 44,641,235 (GRCm39) probably benign Het
Hnf1a A T 5: 115,098,177 (GRCm39) S142T probably damaging Het
Itgb3 A G 11: 104,534,765 (GRCm39) I541V probably benign Het
Itgbl1 G T 14: 124,081,338 (GRCm39) C239F probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Larp1b G T 3: 40,921,929 (GRCm39) S116I probably benign Het
Lmtk3 A G 7: 45,443,933 (GRCm39) probably benign Het
Mapk10 T C 5: 103,137,513 (GRCm39) I235V probably damaging Het
Mctp1 C T 13: 76,879,887 (GRCm39) probably benign Het
Megf8 G A 7: 25,053,285 (GRCm39) D1819N probably damaging Het
Muc6 T C 7: 141,217,717 (GRCm39) T2254A possibly damaging Het
Nbr1 T A 11: 101,460,417 (GRCm39) S444T probably damaging Het
Ncor2 A T 5: 125,101,301 (GRCm39) D1956E probably damaging Het
Ndufaf5 T C 2: 140,030,663 (GRCm39) V183A probably benign Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Nol12 A G 15: 78,821,374 (GRCm39) E78G probably damaging Het
Npy5r T A 8: 67,133,998 (GRCm39) H265L probably benign Het
Or10j2 T A 1: 173,098,417 (GRCm39) L225H probably damaging Het
Or8k16 G A 2: 85,520,472 (GRCm39) G233D possibly damaging Het
Pop1 A G 15: 34,529,217 (GRCm39) E749G probably benign Het
Ppil3 T C 1: 58,477,547 (GRCm39) I66V probably damaging Het
Prl4a1 C A 13: 28,202,554 (GRCm39) T43K possibly damaging Het
Prop1 A G 11: 50,844,113 (GRCm39) probably benign Het
Qrsl1 A T 10: 43,761,010 (GRCm39) I218N probably damaging Het
Rbm22 T A 18: 60,697,484 (GRCm39) M63K possibly damaging Het
Rps6kb2 T C 19: 4,207,587 (GRCm39) T388A probably damaging Het
Slc7a5 A G 8: 122,613,129 (GRCm39) probably benign Het
Sp100 A T 1: 85,635,722 (GRCm39) D509V probably damaging Het
Spata18 G T 5: 73,829,861 (GRCm39) probably null Het
Sspo C A 6: 48,436,502 (GRCm39) T1254K possibly damaging Het
Stk19 A G 17: 35,051,134 (GRCm39) probably benign Het
Taar8b T A 10: 23,967,262 (GRCm39) I311F probably damaging Het
Themis2 C A 4: 132,510,658 (GRCm39) probably null Het
Tll2 T C 19: 41,074,702 (GRCm39) Y937C possibly damaging Het
Trim34a T A 7: 103,896,939 (GRCm39) M1K probably null Het
Usp50 G A 2: 126,619,958 (GRCm39) T118I possibly damaging Het
Vps13d G A 4: 144,875,428 (GRCm39) S1693F probably benign Het
Vps16 T A 2: 130,282,852 (GRCm39) I467N probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null 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
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
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 2015-04-16