Incidental Mutation 'R5834:Mtor'
ID 449453
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 044055-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5834 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 148533068-148642140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148620993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1797 (N1797S)
Ref Sequence ENSEMBL: ENSMUSP00000099510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103221]
AlphaFold Q9JLN9
Predicted Effect possibly damaging
Transcript: ENSMUST00000103221
AA Change: N1797S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991
AA Change: N1797S

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: ENSMUST00000158456
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,227,974 (GRCm39) probably null Het
Adamts20 A C 15: 94,251,465 (GRCm39) S441A probably damaging Het
Aen T A 7: 78,557,049 (GRCm39) M299K probably damaging Het
Akap3 T C 6: 126,842,796 (GRCm39) S472P probably benign Het
Ank3 T G 10: 69,658,087 (GRCm39) V158G probably damaging Het
Arfgap1 A G 2: 180,622,955 (GRCm39) D324G probably benign Het
Aste1 A T 9: 105,280,614 (GRCm39) R448S probably benign Het
Atp10a T A 7: 58,308,366 (GRCm39) L55Q probably benign Het
C1qtnf9 G A 14: 61,016,899 (GRCm39) G143D probably damaging Het
Camsap2 A G 1: 136,208,126 (GRCm39) V1122A probably benign Het
Cbl T C 9: 44,145,076 (GRCm39) H37R probably damaging Het
Cfap61 A C 2: 145,971,069 (GRCm39) D893A probably benign Het
Chd2 T A 7: 73,128,463 (GRCm39) I841F probably damaging Het
Chd9 A G 8: 91,723,792 (GRCm39) T622A probably damaging Het
Cntnap3 A G 13: 64,896,391 (GRCm39) Y1028H probably benign Het
Crybg2 A G 4: 133,801,434 (GRCm39) T865A probably benign Het
Cyp2c55 A G 19: 39,030,511 (GRCm39) I448V probably benign Het
Cyth1 T A 11: 118,083,289 (GRCm39) probably null Het
Dcaf13 C T 15: 39,007,037 (GRCm39) R324* probably null Het
Dhx37 C A 5: 125,502,794 (GRCm39) R42L probably damaging Het
Dock1 T A 7: 134,365,662 (GRCm39) V450E probably damaging Het
Ednrb A G 14: 104,058,313 (GRCm39) L330P probably damaging Het
Eml4 T A 17: 83,785,170 (GRCm39) H778Q probably damaging Het
Evx1 T A 6: 52,292,975 (GRCm39) I227N probably damaging Het
G3bp1 T A 11: 55,388,766 (GRCm39) V326E probably benign Het
Gata2 T C 6: 88,177,729 (GRCm39) V253A probably benign Het
Gbp2 A G 3: 142,339,138 (GRCm39) N397D probably damaging Het
Gm14401 C A 2: 176,778,696 (GRCm39) H261N probably benign Het
Hacd4 A T 4: 88,316,389 (GRCm39) H243Q probably benign Het
Hsd3b1 C A 3: 98,760,255 (GRCm39) K245N possibly damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ift27 A T 15: 78,049,443 (GRCm39) C86S probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Irs3 T A 5: 137,642,821 (GRCm39) S206C probably damaging Het
Lefty2 C T 1: 180,720,716 (GRCm39) probably benign Het
Mark3 A G 12: 111,590,921 (GRCm39) I162V probably damaging Het
Matcap1 G A 8: 106,008,755 (GRCm39) Q421* probably null Het
Mefv A C 16: 3,533,910 (GRCm39) D120E probably damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mre11a A G 9: 14,710,953 (GRCm39) I45V probably benign Het
Nav1 A C 1: 135,460,144 (GRCm39) M393R probably benign Het
Nod2 T C 8: 89,391,267 (GRCm39) S510P possibly damaging Het
Nos2 C T 11: 78,819,405 (GRCm39) T39I probably benign Het
Or2h1b A T 17: 37,462,690 (GRCm39) Y58N probably damaging Het
Or5p54 T A 7: 107,554,113 (GRCm39) H88Q probably benign Het
Pcdh7 A G 5: 57,878,970 (GRCm39) S842G possibly damaging Het
Pcdha11 T C 18: 37,145,676 (GRCm39) V589A probably damaging Het
Plaa A C 4: 94,471,706 (GRCm39) V10G probably damaging Het
Pprc1 T A 19: 46,053,659 (GRCm39) probably benign Het
Ptprt T C 2: 161,402,189 (GRCm39) Y994C probably damaging Het
Ripply2 T A 9: 86,897,943 (GRCm39) W37R probably damaging Het
Rpgrip1 A G 14: 52,395,839 (GRCm39) D1227G probably damaging Het
Scoc C T 8: 84,164,260 (GRCm39) D10N possibly damaging Het
Sdk2 A T 11: 113,745,099 (GRCm39) I732N probably damaging Het
Six2 T C 17: 85,995,092 (GRCm39) K97E probably damaging Het
Slit2 A C 5: 48,416,989 (GRCm39) N1014H probably damaging Het
Smc1b A C 15: 84,973,866 (GRCm39) L930R probably damaging Het
Spag16 T A 1: 69,962,873 (GRCm39) M340K probably benign Het
Spata31 C T 13: 65,070,480 (GRCm39) S876L probably benign Het
Spen A G 4: 141,199,154 (GRCm39) Y3135H possibly damaging Het
Spta1 A T 1: 174,012,363 (GRCm39) probably null Het
Stk3 G A 15: 34,959,164 (GRCm39) T336I probably damaging Het
Tas2r118 T A 6: 23,969,876 (GRCm39) T62S probably benign Het
Tmprss11d A G 5: 86,454,169 (GRCm39) M212T probably damaging Het
Trpc7 A G 13: 56,923,971 (GRCm39) L738P probably damaging Het
Ttll8 A G 15: 88,801,449 (GRCm39) V413A possibly damaging Het
Usb1 G A 8: 96,060,161 (GRCm39) probably benign Het
Vmn1r238 T C 18: 3,123,168 (GRCm39) E82G probably benign Het
Vmn2r114 T C 17: 23,529,599 (GRCm39) T168A possibly damaging Het
Vmn2r60 C A 7: 41,765,932 (GRCm39) P13H probably benign Het
Wdr26 A G 1: 181,030,712 (GRCm39) L194P probably damaging Het
Zfhx2 G A 14: 55,310,787 (GRCm39) Q636* probably null Het
Zfyve26 A G 12: 79,313,311 (GRCm39) Y25H 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
R5514:Mtor UTSW 4 148,630,901 (GRCm39) missense probably damaging 1.00
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
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'- GTAGTAAGGCCCACTTCCTG -3'
(R):5'- TCAGTGACCTTCTTCTGCAGAG -3'

Sequencing Primer
(F):5'- CCACTTCCTGGGAGTATGTAGC -3'
(R):5'- CTTCTTCTGCAGAGGGGAC -3'
Posted On 2016-12-20