Incidental Mutation 'R2275:Rptor'
ID 242747
Institutional Source Beutler Lab
Gene Symbol Rptor
Ensembl Gene ENSMUSG00000025583
Gene Name regulatory associated protein of MTOR, complex 1
Synonyms Rap, raptor, 4932417H02Rik
MMRRC Submission 040274-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2275 (G1)
Quality Score 213
Status Not validated
Chromosome 11
Chromosomal Location 119493731-119790402 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 119647148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 246 (C246*)
Ref Sequence ENSEMBL: ENSMUSP00000124366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026671] [ENSMUST00000147781]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000026671
AA Change: C246*
SMART Domains Protein: ENSMUSP00000026671
Gene: ENSMUSG00000025583
AA Change: C246*

DomainStartEndE-ValueType
Raptor_N 54 207 2.3e-98 SMART
Pfam:HEAT_2 559 668 7.9e-11 PFAM
Pfam:HEAT 602 630 1.9e-6 PFAM
low complexity region 755 772 N/A INTRINSIC
low complexity region 877 887 N/A INTRINSIC
low complexity region 939 945 N/A INTRINSIC
WD40 1012 1050 2.56e1 SMART
WD40 1052 1097 4.28e0 SMART
WD40 1105 1151 1.83e2 SMART
WD40 1154 1194 1.82e-2 SMART
WD40 1200 1240 5.35e-1 SMART
WD40 1246 1281 7.13e0 SMART
WD40 1283 1329 2.67e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147772
Predicted Effect probably null
Transcript: ENSMUST00000147781
AA Change: C246*
SMART Domains Protein: ENSMUSP00000124366
Gene: ENSMUSG00000025583
AA Change: C246*

DomainStartEndE-ValueType
Raptor_N 54 207 2.3e-98 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of mammalian target of rapamycin complex 1 (mTORC1), a component of the mTOR signaling pathway, which regulates cell growth in response to nutrient and energy levels. The encoded protein may regulate the assembly, localization, and substrate binding of the mTORC1 complex. Homozygous knockout mice for this gene exhibit embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Abca5 A T 11: 110,166,107 (GRCm39) N1556K possibly damaging Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Aco2 C T 15: 81,779,465 (GRCm39) R57C probably benign Het
Adamtsl3 A T 7: 82,255,766 (GRCm39) S1593C probably benign Het
Adgrb2 G A 4: 129,900,647 (GRCm39) G333D probably damaging Het
Arhgef7 T A 8: 11,865,010 (GRCm39) F374Y possibly damaging Het
Atxn7 T A 14: 14,013,268 (GRCm38) M62K possibly damaging Het
C87436 G A 6: 86,422,582 (GRCm39) R52H probably damaging Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Cdh4 T C 2: 179,532,640 (GRCm39) S701P probably damaging Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Cecr2 C T 6: 120,733,702 (GRCm39) S563L probably benign Het
Cfap276 A G 3: 108,449,819 (GRCm39) N33D possibly damaging Het
Col12a1 A T 9: 79,542,709 (GRCm39) V2352E probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csad G T 15: 102,095,557 (GRCm39) R167S probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
Ehmt2 T A 17: 35,129,691 (GRCm39) N951K possibly damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Enpp2 A C 15: 54,761,190 (GRCm39) Y221D probably damaging Het
Exoc3l A T 8: 106,017,079 (GRCm39) probably null Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Faiml T C 9: 99,111,612 (GRCm39) Y149C probably benign Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Glg1 A T 8: 111,895,353 (GRCm39) Y819* probably null Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gm28042 A C 2: 119,867,310 (GRCm39) Q465P probably damaging Het
Gpatch1 A T 7: 34,988,103 (GRCm39) S678T probably benign Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Hecw1 T C 13: 14,520,653 (GRCm39) T195A probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Kcnh1 T G 1: 192,019,829 (GRCm39) V358G probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
Knl1 C A 2: 118,902,762 (GRCm39) Q1488K probably damaging Het
Map4k1 T A 7: 28,701,382 (GRCm39) H729Q probably damaging Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mypn A G 10: 62,966,848 (GRCm39) F943L probably damaging Het
Nkpd1 A G 7: 19,257,822 (GRCm39) I534V probably benign Het
Nrarp T C 2: 25,071,421 (GRCm39) V100A possibly damaging Het
Nt5c1a T C 4: 123,109,873 (GRCm39) F324S probably damaging Het
Ntrk2 T A 13: 59,009,165 (GRCm39) Y319N probably damaging Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Parg A G 14: 32,017,195 (GRCm39) D384G probably damaging Het
Pde7b T A 10: 20,276,165 (GRCm39) *460L probably null Het
Pigr G T 1: 130,774,207 (GRCm39) V396L probably benign Het
Pkhd1 A G 1: 20,271,073 (GRCm39) I3160T possibly damaging Het
Ppl T C 16: 4,912,416 (GRCm39) S722G probably benign Het
Ppp1r26 A G 2: 28,342,713 (GRCm39) E781G possibly damaging Het
Rusc2 G A 4: 43,416,260 (GRCm39) R522H probably damaging Het
Senp7 T C 16: 56,005,146 (GRCm39) S927P probably damaging Het
Serpinb6d A T 13: 33,855,411 (GRCm39) M362L probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Slc46a1 T G 11: 78,357,249 (GRCm39) S101A probably benign Het
Slc4a8 A G 15: 100,705,283 (GRCm39) M830V probably benign Het
Slco4a1 T C 2: 180,106,529 (GRCm39) L237P possibly damaging Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
Tia1 A G 6: 86,404,659 (GRCm39) N298S probably benign Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Ttc6 G A 12: 57,749,084 (GRCm39) V1339I probably benign Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vmn1r228 A G 17: 20,996,807 (GRCm39) L237P probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r2 T C 3: 64,023,930 (GRCm39) R884G probably benign Het
Vmn2r60 T A 7: 41,786,251 (GRCm39) Y351* probably null Het
Zbtb7a G A 10: 80,980,831 (GRCm39) V342I possibly damaging Het
Zdhhc11 C A 13: 74,121,871 (GRCm39) N127K probably damaging Het
Other mutations in Rptor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Rptor APN 11 119,690,271 (GRCm39) missense possibly damaging 0.92
IGL01319:Rptor APN 11 119,781,996 (GRCm39) missense probably benign 0.01
IGL01375:Rptor APN 11 119,787,262 (GRCm39) missense possibly damaging 0.68
IGL01899:Rptor APN 11 119,748,279 (GRCm39) missense probably benign 0.04
IGL01927:Rptor APN 11 119,548,500 (GRCm39) missense probably damaging 1.00
IGL02312:Rptor APN 11 119,737,741 (GRCm39) missense possibly damaging 0.84
IGL02620:Rptor APN 11 119,671,413 (GRCm39) missense probably benign 0.12
IGL02651:Rptor APN 11 119,783,438 (GRCm39) missense possibly damaging 0.69
IGL03182:Rptor APN 11 119,615,971 (GRCm39) missense probably damaging 1.00
Velocipede UTSW 11 119,786,803 (GRCm39) missense possibly damaging 0.92
R0103:Rptor UTSW 11 119,775,793 (GRCm39) missense probably benign 0.01
R0179:Rptor UTSW 11 119,763,193 (GRCm39) missense probably benign 0.14
R0217:Rptor UTSW 11 119,785,738 (GRCm39) splice site probably benign
R0219:Rptor UTSW 11 119,712,603 (GRCm39) intron probably benign
R0324:Rptor UTSW 11 119,783,467 (GRCm39) missense probably damaging 1.00
R0432:Rptor UTSW 11 119,671,379 (GRCm39) nonsense probably null
R0718:Rptor UTSW 11 119,763,202 (GRCm39) missense probably benign 0.15
R0730:Rptor UTSW 11 119,775,780 (GRCm39) missense probably benign 0.06
R1019:Rptor UTSW 11 119,734,569 (GRCm39) missense probably damaging 1.00
R1073:Rptor UTSW 11 119,634,717 (GRCm39) missense possibly damaging 0.93
R1424:Rptor UTSW 11 119,671,419 (GRCm39) nonsense probably null
R1579:Rptor UTSW 11 119,786,827 (GRCm39) missense probably benign 0.00
R1766:Rptor UTSW 11 119,615,887 (GRCm39) missense probably damaging 0.99
R1844:Rptor UTSW 11 119,647,146 (GRCm39) missense probably damaging 1.00
R2180:Rptor UTSW 11 119,615,970 (GRCm39) missense probably damaging 1.00
R2274:Rptor UTSW 11 119,647,148 (GRCm39) nonsense probably null
R2408:Rptor UTSW 11 119,748,277 (GRCm39) missense probably damaging 0.99
R2981:Rptor UTSW 11 119,756,420 (GRCm39) missense probably damaging 1.00
R2996:Rptor UTSW 11 119,747,124 (GRCm39) missense probably damaging 1.00
R3001:Rptor UTSW 11 119,763,197 (GRCm39) missense possibly damaging 0.94
R3002:Rptor UTSW 11 119,763,197 (GRCm39) missense possibly damaging 0.94
R3003:Rptor UTSW 11 119,763,197 (GRCm39) missense possibly damaging 0.94
R4358:Rptor UTSW 11 119,562,171 (GRCm39) missense probably damaging 0.98
R4592:Rptor UTSW 11 119,689,666 (GRCm39) missense probably null 1.00
R4647:Rptor UTSW 11 119,781,989 (GRCm39) missense probably benign 0.33
R4666:Rptor UTSW 11 119,634,708 (GRCm39) missense probably damaging 1.00
R4958:Rptor UTSW 11 119,748,217 (GRCm39) missense probably benign 0.29
R4974:Rptor UTSW 11 119,712,466 (GRCm39) intron probably benign
R5073:Rptor UTSW 11 119,787,305 (GRCm39) missense possibly damaging 0.71
R5199:Rptor UTSW 11 119,494,642 (GRCm39) missense probably benign
R5216:Rptor UTSW 11 119,734,539 (GRCm39) missense probably damaging 0.98
R5219:Rptor UTSW 11 119,734,539 (GRCm39) missense probably damaging 0.98
R5277:Rptor UTSW 11 119,713,782 (GRCm39) missense probably damaging 1.00
R5365:Rptor UTSW 11 119,734,539 (GRCm39) missense probably damaging 0.98
R5366:Rptor UTSW 11 119,734,539 (GRCm39) missense probably damaging 0.98
R5447:Rptor UTSW 11 119,734,539 (GRCm39) missense probably damaging 0.98
R5630:Rptor UTSW 11 119,647,075 (GRCm39) missense probably benign 0.01
R6220:Rptor UTSW 11 119,788,268 (GRCm39) missense possibly damaging 0.83
R6567:Rptor UTSW 11 119,786,838 (GRCm39) missense probably benign 0.00
R6741:Rptor UTSW 11 119,786,803 (GRCm39) missense possibly damaging 0.92
R6915:Rptor UTSW 11 119,647,171 (GRCm39) missense probably damaging 0.99
R7032:Rptor UTSW 11 119,737,762 (GRCm39) missense probably benign 0.00
R7051:Rptor UTSW 11 119,765,012 (GRCm39) utr 3 prime probably benign
R7396:Rptor UTSW 11 119,763,181 (GRCm39) missense probably benign 0.10
R7429:Rptor UTSW 11 119,737,654 (GRCm39) missense probably damaging 1.00
R7430:Rptor UTSW 11 119,737,654 (GRCm39) missense probably damaging 1.00
R7447:Rptor UTSW 11 119,775,805 (GRCm39) missense probably benign 0.00
R7595:Rptor UTSW 11 119,634,779 (GRCm39) missense possibly damaging 0.82
R7776:Rptor UTSW 11 119,783,453 (GRCm39) missense probably benign 0.01
R7854:Rptor UTSW 11 119,748,779 (GRCm39) missense probably benign 0.02
R8288:Rptor UTSW 11 119,748,763 (GRCm39) missense probably benign 0.02
R8305:Rptor UTSW 11 119,702,812 (GRCm39) missense probably damaging 1.00
R8328:Rptor UTSW 11 119,783,473 (GRCm39) missense probably benign 0.00
R8351:Rptor UTSW 11 119,783,465 (GRCm39) missense probably benign 0.22
R8772:Rptor UTSW 11 119,615,858 (GRCm39) missense probably damaging 1.00
R8871:Rptor UTSW 11 119,494,751 (GRCm39) missense probably benign 0.01
R8925:Rptor UTSW 11 119,782,036 (GRCm39) missense probably benign 0.11
R8927:Rptor UTSW 11 119,782,036 (GRCm39) missense probably benign 0.11
R8981:Rptor UTSW 11 119,734,508 (GRCm39) missense possibly damaging 0.90
R9149:Rptor UTSW 11 119,777,896 (GRCm39) missense probably benign 0.05
R9213:Rptor UTSW 11 119,494,765 (GRCm39) missense probably benign
R9224:Rptor UTSW 11 119,785,113 (GRCm39) missense probably benign 0.11
R9290:Rptor UTSW 11 119,702,823 (GRCm39) missense probably benign 0.00
R9314:Rptor UTSW 11 119,786,772 (GRCm39) missense probably benign 0.43
R9371:Rptor UTSW 11 119,562,152 (GRCm39) missense possibly damaging 0.66
R9719:Rptor UTSW 11 119,781,940 (GRCm39) missense probably benign 0.13
R9751:Rptor UTSW 11 119,777,964 (GRCm39) missense probably benign 0.02
X0050:Rptor UTSW 11 119,737,231 (GRCm39) missense probably benign 0.14
X0066:Rptor UTSW 11 119,748,692 (GRCm39) missense probably benign 0.31
Z0001:Rptor UTSW 11 119,762,318 (GRCm39) critical splice acceptor site probably benign
Z0001:Rptor UTSW 11 119,748,279 (GRCm39) critical splice donor site probably benign
Z0001:Rptor UTSW 11 119,742,294 (GRCm39) critical splice donor site probably benign
Z0001:Rptor UTSW 11 119,737,578 (GRCm39) critical splice acceptor site probably null
Z0001:Rptor UTSW 11 119,690,145 (GRCm39) critical splice acceptor site probably benign
Z0001:Rptor UTSW 11 119,647,241 (GRCm39) critical splice donor site probably benign
Z0001:Rptor UTSW 11 119,647,062 (GRCm39) splice site probably null
Z0001:Rptor UTSW 11 119,494,798 (GRCm39) critical splice donor site probably null
Z0001:Rptor UTSW 11 119,787,375 (GRCm39) critical splice donor site probably benign
Z0001:Rptor UTSW 11 119,764,977 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- TTACCACCATGCGTGTTGG -3'
(R):5'- CAAAACACAGGGCACTCTGTTG -3'

Sequencing Primer
(F):5'- AAGCTTTGTCTGGGGCAGAAC -3'
(R):5'- CACTCTGTTGTGACCAGGATAATGC -3'
Posted On 2014-10-16