Incidental Mutation 'R9314:Rptor'
ID 705799
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9314 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 119493731-119790402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119786772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1246 (S1246P)
Ref Sequence ENSEMBL: ENSMUSP00000026671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026671] [ENSMUST00000147781]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026671
AA Change: S1246P

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026671
Gene: ENSMUSG00000025583
AA Change: S1246P

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: ENSMUST00000136662
SMART Domains Protein: ENSMUSP00000125293
Gene: ENSMUSG00000025583

DomainStartEndE-ValueType
low complexity region 50 67 N/A INTRINSIC
low complexity region 172 182 N/A INTRINSIC
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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A C 17: 24,547,593 (GRCm39) N260K possibly damaging Het
Anapc1 G A 2: 128,464,420 (GRCm39) S1692L possibly damaging Het
Brca2 A G 5: 150,474,359 (GRCm39) R2421G probably damaging Het
Cad A G 5: 31,234,988 (GRCm39) Y2143C probably damaging Het
Calr3 T A 8: 73,178,535 (GRCm39) D356V possibly damaging Het
Cd207 T A 6: 83,652,699 (GRCm39) T144S probably damaging Het
Cntln T C 4: 84,924,719 (GRCm39) L608P probably damaging Het
Dnah8 A T 17: 30,990,857 (GRCm39) Y3300F probably benign Het
Emb T C 13: 117,408,604 (GRCm39) I315T probably damaging Het
Esr1 T A 10: 4,916,181 (GRCm39) V456E possibly damaging Het
Evpl A T 11: 116,118,503 (GRCm39) H701Q probably benign Het
F5 C T 1: 164,029,146 (GRCm39) T1715I probably benign Het
Fut10 T A 8: 31,691,504 (GRCm39) H116Q probably damaging Het
Gm40460 ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,447 (GRCm39) probably benign Het
Gm5591 T C 7: 38,221,884 (GRCm39) T62A probably benign Het
Hectd4 T C 5: 121,437,708 (GRCm39) probably null Het
Ifit1bl1 G C 19: 34,576,693 (GRCm39) Q3E probably benign Het
Ighg3 A T 12: 113,323,946 (GRCm39) D147E Het
Ighv8-13 A G 12: 115,728,996 (GRCm39) V87A possibly damaging Het
Kdelr1 A G 7: 45,531,050 (GRCm39) T160A probably benign Het
Kdm2a A G 19: 4,372,510 (GRCm39) L945P probably damaging Het
Krt36 C T 11: 99,994,227 (GRCm39) W283* probably null Het
Lamp3 T C 16: 19,492,192 (GRCm39) M351V probably benign Het
Lox C G 18: 52,653,911 (GRCm39) R395P probably damaging Het
Lrrtm3 T C 10: 63,925,499 (GRCm39) probably benign Het
Madcam1 C A 10: 79,501,481 (GRCm39) T182K probably damaging Het
Megf8 T A 7: 25,029,297 (GRCm39) H280Q probably damaging Het
Mrgprb5 A G 7: 47,818,174 (GRCm39) I187T probably benign Het
Muc1 T C 3: 89,138,825 (GRCm39) V478A probably damaging Het
Mug1 T G 6: 121,834,296 (GRCm39) V359G probably damaging Het
Myh4 A G 11: 67,151,141 (GRCm39) H1932R probably benign Het
Naaladl1 A C 19: 6,162,401 (GRCm39) N448H probably damaging Het
Or52b1 A T 7: 104,979,081 (GRCm39) I106N probably damaging Het
Or5a1 C T 19: 12,097,144 (GRCm39) E311K probably benign Het
Pkd1l1 A T 11: 8,829,153 (GRCm39) Y1480N Het
Poll T C 19: 45,547,091 (GRCm39) E127G probably benign Het
Ppl T C 16: 4,922,367 (GRCm39) N305S possibly damaging Het
Prss53 A G 7: 127,490,039 (GRCm39) V17A probably benign Het
Ptprj A G 2: 90,301,631 (GRCm39) V74A possibly damaging Het
Rapgef4 A T 2: 72,064,983 (GRCm39) H804L possibly damaging Het
Rassf8 A G 6: 145,762,296 (GRCm39) T356A probably damaging Het
Setdb2 A T 14: 59,650,240 (GRCm39) I458N probably benign Het
Sgtb A G 13: 104,254,933 (GRCm39) K68E possibly damaging Het
Slc19a3 T G 1: 83,000,094 (GRCm39) I308L possibly damaging Het
Slc22a5 T C 11: 53,762,487 (GRCm39) D320G possibly damaging Het
Slc34a2 T C 5: 53,218,143 (GRCm39) S141P possibly damaging Het
Slc37a2 T C 9: 37,150,482 (GRCm39) T158A possibly damaging Het
Slc7a1 T C 5: 148,269,327 (GRCm39) I598V probably benign Het
Sphk2 T C 7: 45,361,158 (GRCm39) D282G probably damaging Het
Spty2d1 G T 7: 46,648,486 (GRCm39) P148T probably damaging Het
Supt3 A G 17: 45,352,250 (GRCm39) T310A probably benign Het
Supt5 T A 7: 28,019,799 (GRCm39) D457V probably damaging Het
Svep1 C T 4: 58,070,347 (GRCm39) G2480R probably damaging Het
Tbcd T C 11: 121,487,297 (GRCm39) V803A probably benign Het
Tex2 A T 11: 106,435,075 (GRCm39) C784S unknown Het
Thrb A G 14: 17,963,208 (GRCm38) H57R probably benign Het
Tmc4 T C 7: 3,679,723 (GRCm39) T34A possibly damaging Het
Tmprss2 T C 16: 97,400,459 (GRCm39) N4S probably benign Het
Trank1 A G 9: 111,195,049 (GRCm39) I1024M probably damaging Het
Trnau1ap C A 4: 132,056,697 (GRCm39) probably benign Het
Ttn A G 2: 76,566,710 (GRCm39) V28061A probably damaging Het
Txnl4b C A 8: 110,299,331 (GRCm39) P97Q probably benign Het
Ube4a T C 9: 44,854,023 (GRCm39) T573A probably benign Het
Vit A T 17: 78,927,044 (GRCm39) T330S probably benign Het
Wdr3 T C 3: 100,050,288 (GRCm39) I750V probably benign Het
Zfp59 C T 7: 27,554,029 (GRCm39) L494F possibly 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
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
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'- GCCTTACCAGCATGTGCAAG -3'
(R):5'- ATTTCATGGTAGTACAGTTACACCC -3'

Sequencing Primer
(F):5'- GCAAGTGGGCATTGAAACTTCTC -3'
(R):5'- TGGTAGTACAGTTACACCCTCTAAAC -3'
Posted On 2022-03-25