Incidental Mutation 'R7032:Rptor'
ID 546401
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 045133-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7032 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 119493731-119790402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119737762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 112 (I112V)
Ref Sequence ENSEMBL: ENSMUSP00000125503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026671] [ENSMUST00000124401] [ENSMUST00000139728] [ENSMUST00000147781]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026671
AA Change: I612V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026671
Gene: ENSMUSG00000025583
AA Change: I612V

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 probably benign
Transcript: ENSMUST00000124401
AA Change: I112V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125503
Gene: ENSMUSG00000025583
AA Change: I112V

DomainStartEndE-ValueType
Pfam:HEAT 58 88 1.2e-5 PFAM
Pfam:HEAT_2 101 170 3.9e-8 PFAM
Pfam:HEAT 102 130 1.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139728
Predicted Effect probably benign
Transcript: ENSMUST00000147781
SMART Domains Protein: ENSMUSP00000124366
Gene: ENSMUSG00000025583

DomainStartEndE-ValueType
Raptor_N 54 207 2.3e-98 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (67/67)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,438 (GRCm39) D398E possibly damaging Het
Adam34 T C 8: 44,105,303 (GRCm39) Y114C probably damaging Het
Akap9 T A 5: 4,004,896 (GRCm39) D156E probably benign Het
Apba1 T A 19: 23,889,825 (GRCm39) S408T probably benign Het
Asb14 C T 14: 26,625,412 (GRCm39) H256Y probably benign Het
Atf6 A T 1: 170,627,181 (GRCm39) probably null Het
Atp6v1b2 T A 8: 69,541,548 (GRCm39) V35E probably benign Het
Atp8a2 T C 14: 60,255,289 (GRCm39) probably null Het
Ccdc170 C A 10: 4,432,597 (GRCm39) P12Q unknown Het
Cdh23 C T 10: 60,167,567 (GRCm39) E1810K probably damaging Het
Cdo1 A T 18: 46,853,475 (GRCm39) F94L probably damaging Het
Cfap96 T G 8: 46,409,474 (GRCm39) S282R probably damaging Het
Chdh C T 14: 29,758,809 (GRCm39) P585S possibly damaging Het
Clasp2 A G 9: 113,683,391 (GRCm39) N407S probably benign Het
Clca3a1 T A 3: 144,453,329 (GRCm39) S465C probably benign Het
Clip2 C A 5: 134,551,484 (GRCm39) V213L probably damaging Het
Col6a6 A G 9: 105,644,707 (GRCm39) S1194P probably damaging Het
Cyp7a1 T C 4: 6,268,463 (GRCm39) T421A possibly damaging Het
Dhh C T 15: 98,791,907 (GRCm39) G367E possibly damaging Het
Dnah5 A G 15: 28,326,796 (GRCm39) N2002D probably damaging Het
Epn2 T A 11: 61,437,528 (GRCm39) N15Y probably damaging Het
Evi5 A C 5: 107,936,147 (GRCm39) V647G probably benign Het
Eya1 T C 1: 14,353,424 (GRCm39) probably null Het
Fam120a A G 13: 49,102,589 (GRCm39) V222A probably benign Het
Fastkd5 A T 2: 130,457,864 (GRCm39) I242K possibly damaging Het
Hnrnpul1 A G 7: 25,450,319 (GRCm39) M131T probably benign Het
Ice1 T C 13: 70,744,283 (GRCm39) N2100S probably damaging Het
Ifi205 T A 1: 173,855,916 (GRCm39) D38V possibly damaging Het
Klhl9 G A 4: 88,639,843 (GRCm39) Q133* probably null Het
Krt84 T C 15: 101,436,924 (GRCm39) E370G probably benign Het
Lrrc4c T C 2: 97,459,410 (GRCm39) I12T probably benign Het
Lrriq4 T A 3: 30,709,850 (GRCm39) L398* probably null Het
Ltf G A 9: 110,855,198 (GRCm39) probably null Het
Macf1 C T 4: 123,366,101 (GRCm39) V1322I probably benign Het
Mark2 T A 19: 7,264,698 (GRCm39) I112L probably damaging Het
Mettl25b A G 3: 87,831,649 (GRCm39) probably null Het
Mterf2 A T 10: 84,956,527 (GRCm39) C32* probably null Het
Myo3b C T 2: 69,925,608 (GRCm39) T25I probably damaging Het
Nsun7 A C 5: 66,421,378 (GRCm39) I115L probably benign Het
Olfm3 G A 3: 114,883,805 (GRCm39) V36M probably damaging Het
Or1p1c T C 11: 74,160,428 (GRCm39) I71T possibly damaging Het
Or5d44 T C 2: 88,141,373 (GRCm39) T256A probably benign Het
Or8b3 A T 9: 38,314,965 (GRCm39) Y262F possibly damaging Het
Or8g18 A T 9: 39,148,983 (GRCm39) S246T possibly damaging Het
Pcdhgb8 A T 18: 37,896,962 (GRCm39) R677S probably benign Het
Prrt4 A C 6: 29,170,538 (GRCm39) L638R possibly damaging Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rab44 T C 17: 29,359,438 (GRCm39) F542S unknown Het
Rhobtb3 T A 13: 76,020,513 (GRCm39) E596D probably benign Het
Rpl36 T C 17: 56,920,944 (GRCm39) I44T probably benign Het
Rxfp2 T C 5: 149,993,813 (GRCm39) I611T probably damaging Het
Slc12a4 G T 8: 106,675,865 (GRCm39) N553K probably damaging Het
Spata31d1d T A 13: 59,876,046 (GRCm39) R496S probably benign Het
Strbp T C 2: 37,493,125 (GRCm39) D387G possibly damaging Het
Tas2r107 A T 6: 131,636,153 (GRCm39) C299S possibly damaging Het
Tbc1d21 A T 9: 58,274,134 (GRCm39) probably null Het
Tdrd12 A T 7: 35,180,471 (GRCm39) Y847* probably null Het
Tlr2 A T 3: 83,745,212 (GRCm39) N290K probably benign Het
Tmppe A G 9: 114,234,858 (GRCm39) T386A probably damaging Het
Tnks1bp1 C A 2: 84,892,297 (GRCm39) H741Q probably benign Het
Trpc6 G A 9: 8,609,951 (GRCm39) V140M probably damaging Het
Ttn T C 2: 76,641,932 (GRCm39) D13427G probably damaging Het
Uba7 C A 9: 107,853,371 (GRCm39) L106I possibly damaging Het
Unc5b T G 10: 60,614,587 (GRCm39) T237P probably damaging Het
Vit A C 17: 78,932,294 (GRCm39) D467A probably damaging Het
Vmn1r103 T C 7: 20,243,780 (GRCm39) Y227C possibly damaging Het
Vmn1r77 T A 7: 11,776,017 (GRCm39) Y196* probably null Het
Zhx3 A G 2: 160,622,898 (GRCm39) V423A 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
R2275: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
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'- ACCTATGTCCTGTGTCTAGGAGG -3'
(R):5'- ACAGAGTTGGCATAGCATGATTG -3'

Sequencing Primer
(F):5'- CTGTGTCTAGGAGGCCTGC -3'
(R):5'- GTCAAATGAGATTCGGTAGCCTATC -3'
Posted On 2019-05-13