Incidental Mutation 'R5514:Mtor'
ID 440221
Institutional Source Beutler Lab
Gene Symbol Mtor
Ensembl Gene ENSMUSG00000028991
Gene Name mechanistic target of rapamycin kinase
Synonyms flat, 2610315D21Rik, RAPT1, RAFT1, mechanistic target of rapamycin (serine/threonine kinase), FKBP-rapamycin-associated protein FRAP, Frap1
MMRRC Submission 043074-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5514 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 148533068-148642140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 148630901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 2286 (V2286E)
Ref Sequence ENSEMBL: ENSMUSP00000099510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103221]
AlphaFold Q9JLN9
Predicted Effect probably damaging
Transcript: ENSMUST00000103221
AA Change: V2286E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991
AA Change: V2286E

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
low complexity region 179 191 N/A INTRINSIC
low complexity region 277 288 N/A INTRINSIC
low complexity region 774 790 N/A INTRINSIC
DUF3385 854 1024 1.51e-93 SMART
low complexity region 1279 1300 N/A INTRINSIC
Pfam:FAT 1513 1908 2.3e-134 PFAM
Rapamycin_bind 2015 2114 7.94e-61 SMART
PI3Kc 2183 2484 8.84e-121 SMART
FATC 2517 2549 2.11e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129715
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for targeted, gene trap and ENU-induced null alleles exhibit embryonic lethality by E12.5 with abnormal embryogenesis. Mice homozygous for the ENU mutation further exhibit abnormal brain development. [provided by MGI curators]
Allele List at MGI

All alleles(25) : Targeted(12) Gene trapped(12) Chemically induced(1)

Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,390,520 (GRCm39) S382G probably damaging Het
Agr2 G A 12: 36,046,090 (GRCm39) V74I probably benign Het
Aldh3a1 T C 11: 61,108,867 (GRCm39) S423P probably damaging Het
Ampd1 C T 3: 102,986,488 (GRCm39) H56Y possibly damaging Het
Arhgef2 C A 3: 88,550,304 (GRCm39) P670T probably benign Het
Blk T G 14: 63,615,930 (GRCm39) D333A probably damaging Het
Bmi1 T C 2: 18,686,714 (GRCm39) I31T probably damaging Het
Cacna1d G A 14: 30,072,790 (GRCm39) Q62* probably null Het
Ccdc88c A G 12: 100,879,698 (GRCm39) S1801P probably damaging Het
Cdkal1 C T 13: 29,961,270 (GRCm39) A100T probably damaging Het
Cfap251 G T 5: 123,425,829 (GRCm39) probably null Het
Chst4 G T 8: 110,756,606 (GRCm39) S419Y probably damaging Het
Cntn4 T C 6: 106,649,844 (GRCm39) I680T probably damaging Het
Ddx55 T C 5: 124,694,875 (GRCm39) V101A probably damaging Het
Ddx60 A T 8: 62,411,091 (GRCm39) E451V probably damaging Het
Dffa T A 4: 149,190,772 (GRCm39) probably null Het
Dgkd A G 1: 87,861,832 (GRCm39) R796G probably damaging Het
Dzank1 T A 2: 144,323,605 (GRCm39) M614L probably benign Het
Elf2 G T 3: 51,215,555 (GRCm39) Q52K probably damaging Het
Fcamr T A 1: 130,741,793 (GRCm39) L522Q probably damaging Het
Fscn2 T C 11: 120,258,858 (GRCm39) Y468H probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm4787 A G 12: 81,425,102 (GRCm39) V352A possibly damaging Het
Gtsf1 T C 15: 103,336,802 (GRCm39) Q13R probably benign Het
Itpkb G A 1: 180,241,474 (GRCm39) V715M probably damaging Het
Jmjd1c T A 10: 67,053,928 (GRCm39) S263T probably damaging Het
Krba1 T G 6: 48,390,429 (GRCm39) L736R probably damaging Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Mybbp1a T A 11: 72,341,462 (GRCm39) V1100E possibly damaging Het
Myo5a G A 9: 75,061,048 (GRCm39) G518D probably damaging Het
Nalcn A T 14: 123,521,123 (GRCm39) I1594N probably benign Het
Nav1 C G 1: 135,398,299 (GRCm39) G761A probably benign Het
Ncoa2 A T 1: 13,251,445 (GRCm39) L276H probably damaging Het
Ndufaf7 T C 17: 79,245,051 (GRCm39) Y57H probably damaging Het
Nfkb2 A G 19: 46,299,847 (GRCm39) Y807C probably damaging Het
Nid2 A T 14: 19,852,535 (GRCm39) Q1081L probably damaging Het
Nkain2 T A 10: 31,827,189 (GRCm39) I134F probably damaging Het
Nmu A C 5: 76,497,979 (GRCm39) S69A probably damaging Het
Or4c15b A T 2: 89,112,817 (GRCm39) I220N probably damaging Het
Or5t7 T C 2: 86,507,225 (GRCm39) I151V probably benign Het
Pard3 A G 8: 128,153,086 (GRCm39) R886G probably damaging Het
Pde6b G T 5: 108,571,317 (GRCm39) Q423H probably benign Het
Pip5k1b A T 19: 24,327,505 (GRCm39) D450E probably damaging Het
Plcg1 T C 2: 160,595,275 (GRCm39) probably null Het
Pnpt1 T C 11: 29,103,246 (GRCm39) S504P possibly damaging Het
Pomt2 A T 12: 87,175,797 (GRCm39) D312E probably damaging Het
Ppp1r1b T C 11: 98,246,228 (GRCm39) L70P probably damaging Het
Prr5 C A 15: 84,587,096 (GRCm39) P282Q probably benign Het
Reln A T 5: 22,176,883 (GRCm39) W1928R possibly damaging Het
Sacm1l A T 9: 123,415,419 (GRCm39) R465* probably null Het
Sema7a A G 9: 57,863,046 (GRCm39) Y239C probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svep1 T C 4: 58,044,054 (GRCm39) T3531A possibly damaging Het
Tjp1 A T 7: 65,004,609 (GRCm39) W19R probably damaging Het
Tmc2 T A 2: 130,083,564 (GRCm39) M507K possibly damaging Het
Unc13a A G 8: 72,095,795 (GRCm39) Y1241H probably damaging Het
Upp1 C T 11: 9,081,771 (GRCm39) P103S probably damaging Het
Vldlr A G 19: 27,221,624 (GRCm39) E663G probably damaging Het
Vmn2r68 G A 7: 84,886,767 (GRCm39) T49I possibly damaging Het
Xirp2 A T 2: 67,335,465 (GRCm39) M95L probably benign Het
Other mutations in Mtor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Mtor APN 4 148,537,494 (GRCm39) missense probably benign 0.06
IGL01447:Mtor APN 4 148,615,214 (GRCm39) missense possibly damaging 0.62
IGL01551:Mtor APN 4 148,556,494 (GRCm39) missense probably damaging 0.99
IGL01661:Mtor APN 4 148,599,308 (GRCm39) missense possibly damaging 0.61
IGL01675:Mtor APN 4 148,569,111 (GRCm39) missense probably benign 0.00
IGL01743:Mtor APN 4 148,615,070 (GRCm39) splice site probably benign
IGL02015:Mtor APN 4 148,624,570 (GRCm39) nonsense probably null
IGL02084:Mtor APN 4 148,555,137 (GRCm39) missense probably damaging 0.98
IGL02095:Mtor APN 4 148,628,998 (GRCm39) missense probably damaging 1.00
IGL02129:Mtor APN 4 148,634,302 (GRCm39) missense possibly damaging 0.91
IGL02260:Mtor APN 4 148,622,758 (GRCm39) missense probably damaging 1.00
IGL02329:Mtor APN 4 148,619,396 (GRCm39) missense probably benign 0.16
IGL02440:Mtor APN 4 148,576,104 (GRCm39) missense probably benign 0.04
IGL02440:Mtor APN 4 148,630,886 (GRCm39) missense probably benign 0.24
IGL02449:Mtor APN 4 148,618,378 (GRCm39) missense possibly damaging 0.65
IGL02479:Mtor APN 4 148,555,041 (GRCm39) missense probably damaging 1.00
IGL02904:Mtor APN 4 148,576,069 (GRCm39) splice site probably benign
IGL02904:Mtor APN 4 148,536,851 (GRCm39) missense possibly damaging 0.55
IGL02931:Mtor APN 4 148,549,421 (GRCm39) missense probably benign 0.22
IGL03048:Mtor APN 4 148,630,847 (GRCm39) splice site probably benign
IGL03133:Mtor APN 4 148,568,776 (GRCm39) missense probably benign 0.01
IGL03142:Mtor APN 4 148,538,356 (GRCm39) missense probably benign 0.00
Brushes UTSW 4 148,548,205 (GRCm39) missense probably benign 0.00
Dynamo UTSW 4 148,547,367 (GRCm39) missense probably benign 0.00
engine UTSW 4 148,641,312 (GRCm39) splice site probably null
Erg UTSW 4 148,630,053 (GRCm39) missense probably damaging 1.00
Lindor UTSW 4 148,539,103 (GRCm39) missense probably damaging 1.00
motor UTSW 4 148,575,817 (GRCm39) missense possibly damaging 0.76
R4858_Mtor_211 UTSW 4 148,539,273 (GRCm39) makesense probably null
Vigor UTSW 4 148,623,356 (GRCm39) missense probably damaging 1.00
Vim UTSW 4 148,610,260 (GRCm39) critical splice donor site probably null
PIT4519001:Mtor UTSW 4 148,608,957 (GRCm39) missense probably damaging 1.00
R0045:Mtor UTSW 4 148,549,406 (GRCm39) missense probably benign 0.42
R0048:Mtor UTSW 4 148,623,338 (GRCm39) nonsense probably null
R0048:Mtor UTSW 4 148,623,338 (GRCm39) nonsense probably null
R0103:Mtor UTSW 4 148,618,359 (GRCm39) missense probably benign 0.05
R0112:Mtor UTSW 4 148,565,380 (GRCm39) missense probably damaging 1.00
R0137:Mtor UTSW 4 148,555,081 (GRCm39) missense possibly damaging 0.78
R0184:Mtor UTSW 4 148,549,428 (GRCm39) missense probably benign 0.05
R0208:Mtor UTSW 4 148,549,432 (GRCm39) missense probably benign 0.43
R0329:Mtor UTSW 4 148,568,837 (GRCm39) missense probably benign
R0330:Mtor UTSW 4 148,568,837 (GRCm39) missense probably benign
R0365:Mtor UTSW 4 148,570,507 (GRCm39) missense probably benign 0.01
R0537:Mtor UTSW 4 148,622,817 (GRCm39) missense probably damaging 1.00
R0542:Mtor UTSW 4 148,624,907 (GRCm39) missense probably benign 0.02
R0556:Mtor UTSW 4 148,553,837 (GRCm39) missense possibly damaging 0.88
R0613:Mtor UTSW 4 148,610,503 (GRCm39) missense possibly damaging 0.95
R0646:Mtor UTSW 4 148,568,811 (GRCm39) nonsense probably null
R0710:Mtor UTSW 4 148,548,848 (GRCm39) missense possibly damaging 0.73
R0791:Mtor UTSW 4 148,547,367 (GRCm39) missense probably benign 0.00
R0792:Mtor UTSW 4 148,547,367 (GRCm39) missense probably benign 0.00
R0866:Mtor UTSW 4 148,570,513 (GRCm39) missense probably benign 0.04
R0973:Mtor UTSW 4 148,634,645 (GRCm39) missense probably damaging 1.00
R1027:Mtor UTSW 4 148,624,456 (GRCm39) missense probably benign 0.03
R1028:Mtor UTSW 4 148,623,287 (GRCm39) missense possibly damaging 0.88
R1289:Mtor UTSW 4 148,554,764 (GRCm39) missense probably benign 0.10
R1416:Mtor UTSW 4 148,575,871 (GRCm39) nonsense probably null
R1465:Mtor UTSW 4 148,610,450 (GRCm39) splice site probably benign
R1506:Mtor UTSW 4 148,620,962 (GRCm39) splice site probably benign
R1624:Mtor UTSW 4 148,632,133 (GRCm39) missense probably damaging 1.00
R1695:Mtor UTSW 4 148,623,364 (GRCm39) missense probably benign 0.08
R1771:Mtor UTSW 4 148,555,081 (GRCm39) missense possibly damaging 0.78
R1800:Mtor UTSW 4 148,547,349 (GRCm39) missense probably benign 0.00
R1855:Mtor UTSW 4 148,637,546 (GRCm39) missense probably benign 0.02
R1857:Mtor UTSW 4 148,565,336 (GRCm39) missense probably damaging 1.00
R1867:Mtor UTSW 4 148,539,089 (GRCm39) missense probably damaging 0.97
R1954:Mtor UTSW 4 148,552,730 (GRCm39) missense probably damaging 1.00
R2054:Mtor UTSW 4 148,550,482 (GRCm39) missense probably benign 0.00
R2054:Mtor UTSW 4 148,547,309 (GRCm39) missense probably benign 0.05
R2099:Mtor UTSW 4 148,634,649 (GRCm39) nonsense probably null
R2148:Mtor UTSW 4 148,540,469 (GRCm39) missense possibly damaging 0.56
R2214:Mtor UTSW 4 148,623,327 (GRCm39) missense probably benign 0.39
R2281:Mtor UTSW 4 148,574,012 (GRCm39) missense probably benign 0.02
R2512:Mtor UTSW 4 148,614,948 (GRCm39) missense possibly damaging 0.95
R2870:Mtor UTSW 4 148,624,487 (GRCm39) missense probably benign 0.00
R2870:Mtor UTSW 4 148,624,487 (GRCm39) missense probably benign 0.00
R2871:Mtor UTSW 4 148,624,487 (GRCm39) missense probably benign 0.00
R2871:Mtor UTSW 4 148,624,487 (GRCm39) missense probably benign 0.00
R2872:Mtor UTSW 4 148,624,487 (GRCm39) missense probably benign 0.00
R2872:Mtor UTSW 4 148,624,487 (GRCm39) missense probably benign 0.00
R2873:Mtor UTSW 4 148,624,487 (GRCm39) missense probably benign 0.00
R4032:Mtor UTSW 4 148,621,209 (GRCm39) missense probably benign 0.03
R4073:Mtor UTSW 4 148,633,832 (GRCm39) missense probably damaging 0.99
R4273:Mtor UTSW 4 148,634,609 (GRCm39) missense probably benign 0.21
R4611:Mtor UTSW 4 148,570,576 (GRCm39) missense probably benign 0.03
R4858:Mtor UTSW 4 148,539,273 (GRCm39) makesense probably null
R4942:Mtor UTSW 4 148,556,599 (GRCm39) missense probably benign 0.03
R4967:Mtor UTSW 4 148,575,817 (GRCm39) missense possibly damaging 0.76
R4995:Mtor UTSW 4 148,610,209 (GRCm39) missense probably damaging 1.00
R5054:Mtor UTSW 4 148,641,312 (GRCm39) splice site probably null
R5215:Mtor UTSW 4 148,538,440 (GRCm39) missense probably benign
R5249:Mtor UTSW 4 148,548,189 (GRCm39) missense probably damaging 1.00
R5289:Mtor UTSW 4 148,550,549 (GRCm39) missense possibly damaging 0.88
R5365:Mtor UTSW 4 148,634,587 (GRCm39) missense probably damaging 0.99
R5498:Mtor UTSW 4 148,624,821 (GRCm39) missense possibly damaging 0.71
R5540:Mtor UTSW 4 148,539,165 (GRCm39) missense probably benign 0.01
R5600:Mtor UTSW 4 148,575,927 (GRCm39) missense probably damaging 1.00
R5615:Mtor UTSW 4 148,622,733 (GRCm39) missense possibly damaging 0.95
R5632:Mtor UTSW 4 148,553,463 (GRCm39) missense possibly damaging 0.94
R5641:Mtor UTSW 4 148,630,882 (GRCm39) missense probably damaging 0.98
R5834:Mtor UTSW 4 148,620,993 (GRCm39) missense possibly damaging 0.95
R5984:Mtor UTSW 4 148,623,284 (GRCm39) missense probably benign 0.02
R6056:Mtor UTSW 4 148,621,892 (GRCm39) missense probably benign 0.00
R6225:Mtor UTSW 4 148,605,794 (GRCm39) missense probably benign 0.04
R6262:Mtor UTSW 4 148,610,552 (GRCm39) missense possibly damaging 0.46
R6335:Mtor UTSW 4 148,550,384 (GRCm39) missense probably damaging 1.00
R6479:Mtor UTSW 4 148,635,457 (GRCm39) missense probably benign 0.16
R6543:Mtor UTSW 4 148,630,053 (GRCm39) missense probably damaging 1.00
R6711:Mtor UTSW 4 148,536,824 (GRCm39) missense possibly damaging 0.49
R6715:Mtor UTSW 4 148,623,004 (GRCm39) missense probably benign 0.00
R6744:Mtor UTSW 4 148,543,112 (GRCm39) missense probably benign 0.01
R6748:Mtor UTSW 4 148,634,641 (GRCm39) missense probably damaging 1.00
R6762:Mtor UTSW 4 148,622,938 (GRCm39) missense possibly damaging 0.47
R6836:Mtor UTSW 4 148,573,955 (GRCm39) missense possibly damaging 0.94
R6948:Mtor UTSW 4 148,621,209 (GRCm39) missense probably benign 0.12
R6979:Mtor UTSW 4 148,608,930 (GRCm39) missense possibly damaging 0.60
R6992:Mtor UTSW 4 148,548,932 (GRCm39) missense probably benign
R7271:Mtor UTSW 4 148,630,942 (GRCm39) missense possibly damaging 0.70
R7423:Mtor UTSW 4 148,640,801 (GRCm39) missense possibly damaging 0.77
R7434:Mtor UTSW 4 148,549,416 (GRCm39) missense probably benign 0.39
R7619:Mtor UTSW 4 148,547,252 (GRCm39) missense probably damaging 0.98
R7634:Mtor UTSW 4 148,536,807 (GRCm39) missense possibly damaging 0.53
R7697:Mtor UTSW 4 148,624,765 (GRCm39) nonsense probably null
R7737:Mtor UTSW 4 148,623,195 (GRCm39) missense possibly damaging 0.95
R7791:Mtor UTSW 4 148,547,397 (GRCm39) missense probably benign 0.00
R7858:Mtor UTSW 4 148,539,103 (GRCm39) missense probably damaging 1.00
R8035:Mtor UTSW 4 148,630,856 (GRCm39) missense probably benign 0.29
R8076:Mtor UTSW 4 148,610,260 (GRCm39) critical splice donor site probably null
R8078:Mtor UTSW 4 148,552,744 (GRCm39) missense probably benign
R8928:Mtor UTSW 4 148,623,356 (GRCm39) missense probably damaging 1.00
R9040:Mtor UTSW 4 148,548,205 (GRCm39) missense probably benign 0.00
R9116:Mtor UTSW 4 148,637,198 (GRCm39) missense probably benign
R9284:Mtor UTSW 4 148,543,537 (GRCm39) missense probably benign 0.03
R9310:Mtor UTSW 4 148,553,834 (GRCm39) missense probably benign 0.03
R9374:Mtor UTSW 4 148,599,397 (GRCm39) missense probably damaging 1.00
R9417:Mtor UTSW 4 148,622,776 (GRCm39) nonsense probably null
R9465:Mtor UTSW 4 148,624,839 (GRCm39) missense possibly damaging 0.92
R9492:Mtor UTSW 4 148,568,801 (GRCm39) missense probably damaging 1.00
R9499:Mtor UTSW 4 148,599,397 (GRCm39) missense probably damaging 1.00
R9516:Mtor UTSW 4 148,569,103 (GRCm39) missense probably benign 0.23
R9600:Mtor UTSW 4 148,632,092 (GRCm39) missense possibly damaging 0.82
R9622:Mtor UTSW 4 148,568,169 (GRCm39) missense probably damaging 0.99
X0025:Mtor UTSW 4 148,615,171 (GRCm39) missense probably benign 0.09
Z1176:Mtor UTSW 4 148,634,587 (GRCm39) missense possibly damaging 0.69
Z1176:Mtor UTSW 4 148,634,582 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GATCTCTGAGTTCGAGGCCATC -3'
(R):5'- GGAGCCACGGGATCTCATAT -3'

Sequencing Primer
(F):5'- GGCCATCCTCGTCTACAGAACTG -3'
(R):5'- CCTCAGCTGGGATTATAAGGC -3'
Posted On 2016-11-08