Incidental Mutation 'R0613:Mtor'
ID 54876
Institutional Source Beutler Lab
Gene Symbol Mtor
Ensembl Gene ENSMUSG00000028991
Gene Name mechanistic target of rapamycin kinase
Synonyms RAPT1, FKBP-rapamycin-associated protein FRAP, RAFT1, flat, Frap1, 2610315D21Rik
MMRRC Submission 038802-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0613 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148448611-148557683 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148526046 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1605 (Y1605H)
Ref Sequence ENSEMBL: ENSMUSP00000099510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103221]
AlphaFold Q9JLN9
Predicted Effect possibly damaging
Transcript: ENSMUST00000103221
AA Change: Y1605H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991
AA Change: Y1605H

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
Meta Mutation Damage Score 0.7691 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 100% (72/72)
MGI Phenotype Strain: 3529989; 4820819; 3512186; 5425404; 3052669
Lethality: E11-E12
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A T 8: 105,700,568 (GRCm38) probably null Het
Adcy9 A G 16: 4,419,539 (GRCm38) S3P probably damaging Het
Adgrl4 T C 3: 151,543,222 (GRCm38) probably benign Het
Aff3 T C 1: 38,209,923 (GRCm38) E700G probably benign Het
Ahctf1 A G 1: 179,769,414 (GRCm38) S56P probably damaging Het
Atp12a T A 14: 56,374,521 (GRCm38) I384N probably damaging Het
Brca1 A T 11: 101,508,210 (GRCm38) S1519T probably benign Het
Ccl25 T C 8: 4,349,850 (GRCm38) V94A probably benign Het
Cep170 T C 1: 176,774,680 (GRCm38) T287A probably benign Het
Ces1a A G 8: 93,025,581 (GRCm38) S383P probably benign Het
Cntnap3 A T 13: 64,758,414 (GRCm38) F793I probably damaging Het
Ctsm T C 13: 61,539,682 (GRCm38) R89G probably damaging Het
Cyp2j12 T G 4: 96,102,079 (GRCm38) T417P probably damaging Het
D430041D05Rik G C 2: 104,167,950 (GRCm38) P1836R probably damaging Het
Edn2 T A 4: 120,161,864 (GRCm38) probably null Het
Emc1 T A 4: 139,375,072 (GRCm38) probably benign Het
Entrep1 T A 19: 23,986,489 (GRCm38) N239Y probably damaging Het
Fras1 T C 5: 96,700,488 (GRCm38) probably benign Het
Fsip2 A T 2: 82,993,795 (GRCm38) D6624V probably damaging Het
Gpr107 A G 2: 31,178,285 (GRCm38) Y253C probably damaging Het
Gpr108 A G 17: 57,238,174 (GRCm38) probably benign Het
Grik1 A G 16: 88,051,333 (GRCm38) probably null Het
Gtf3c1 G A 7: 125,644,134 (GRCm38) P1766L possibly damaging Het
Gucy2c A T 6: 136,760,723 (GRCm38) N293K probably damaging Het
Hps6 C A 19: 46,003,821 (GRCm38) P66T probably benign Het
Hspa9 A T 18: 34,947,980 (GRCm38) V216E probably damaging Het
Igsf8 T A 1: 172,317,589 (GRCm38) M224K probably benign Het
Igsf9b T C 9: 27,326,920 (GRCm38) V569A probably damaging Het
Itgb4 A T 11: 115,993,342 (GRCm38) I952F probably damaging Het
Kcnh4 C T 11: 100,746,932 (GRCm38) G633E probably benign Het
Khdrbs2 A G 1: 32,657,522 (GRCm38) H344R possibly damaging Het
Kmo C A 1: 175,637,892 (GRCm38) R71S probably damaging Het
Lrrc31 A G 3: 30,685,035 (GRCm38) probably benign Het
Map1b T A 13: 99,441,641 (GRCm38) D168V probably damaging Het
Mfsd6 T C 1: 52,658,696 (GRCm38) probably benign Het
Mgst1 G A 6: 138,156,245 (GRCm38) G186D probably damaging Het
Mrc1 C T 2: 14,294,819 (GRCm38) A740V probably damaging Het
Mroh2a G A 1: 88,243,950 (GRCm38) R770Q probably damaging Het
Ncoa4 T A 14: 32,176,552 (GRCm38) L443Q probably damaging Het
Nelfa G A 5: 33,903,463 (GRCm38) probably benign Het
Nepn T A 10: 52,401,257 (GRCm38) L363Q probably damaging Het
Nfat5 A G 8: 107,366,295 (GRCm38) T630A possibly damaging Het
Nipal4 A T 11: 46,150,384 (GRCm38) V328E probably benign Het
Or11h4b T A 14: 50,681,404 (GRCm38) I77F probably benign Het
Or2y1e T A 11: 49,327,748 (GRCm38) S112R possibly damaging Het
Or4c122 A T 2: 89,249,125 (GRCm38) C178S probably damaging Het
Or4d2b A T 11: 87,889,227 (GRCm38) V223E possibly damaging Het
Or6c76 T A 10: 129,776,262 (GRCm38) M116K probably damaging Het
Or8d2 T A 9: 38,848,613 (GRCm38) C166* probably null Het
Otogl A T 10: 107,817,070 (GRCm38) N1140K probably damaging Het
Ppip5k2 A C 1: 97,752,740 (GRCm38) Y236* probably null Het
Prelid1 C T 13: 55,324,343 (GRCm38) R111* probably null Het
Prpf8 T C 11: 75,503,444 (GRCm38) L1771P probably damaging Het
Ptprb A T 10: 116,302,325 (GRCm38) Y378F possibly damaging Het
Ptprb A G 10: 116,302,378 (GRCm38) T396A possibly damaging Het
Rab3il1 T C 19: 10,028,364 (GRCm38) L174P probably damaging Het
Rab4a T C 8: 123,823,835 (GRCm38) V18A possibly damaging Het
Scn3a T A 2: 65,472,284 (GRCm38) M1273L possibly damaging Het
Sdhc A T 1: 171,129,844 (GRCm38) V156E probably benign Het
Slco3a1 T C 7: 74,346,634 (GRCm38) probably benign Het
Syne3 T C 12: 104,958,112 (GRCm38) T343A probably benign Het
Syt11 A G 3: 88,762,469 (GRCm38) C39R probably damaging Het
Tll2 G T 19: 41,104,990 (GRCm38) D462E probably damaging Het
Tmem132e T A 11: 82,438,338 (GRCm38) V481D probably damaging Het
Tmem161b C T 13: 84,251,320 (GRCm38) L17F probably damaging Het
Vmn2r105 T A 17: 20,208,316 (GRCm38) I833F probably damaging Het
Vstm2a A T 11: 16,263,140 (GRCm38) N175I probably damaging Het
Xpnpep1 G T 19: 53,006,353 (GRCm38) D238E probably damaging Het
Zfp112 G A 7: 24,127,028 (GRCm38) G807D probably benign Het
Zfp518b A T 5: 38,673,603 (GRCm38) V353E probably damaging Het
Zfp69 T C 4: 120,934,347 (GRCm38) E39G probably benign Het
Zfp865 A G 7: 5,029,091 (GRCm38) H25R possibly damaging Het
Other mutations in Mtor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Mtor APN 4 148,453,037 (GRCm38) missense probably benign 0.06
IGL01447:Mtor APN 4 148,530,757 (GRCm38) missense possibly damaging 0.62
IGL01551:Mtor APN 4 148,472,037 (GRCm38) missense probably damaging 0.99
IGL01661:Mtor APN 4 148,514,851 (GRCm38) missense possibly damaging 0.61
IGL01675:Mtor APN 4 148,484,654 (GRCm38) missense probably benign 0.00
IGL01743:Mtor APN 4 148,530,613 (GRCm38) splice site probably benign
IGL02015:Mtor APN 4 148,540,113 (GRCm38) nonsense probably null
IGL02084:Mtor APN 4 148,470,680 (GRCm38) missense probably damaging 0.98
IGL02095:Mtor APN 4 148,544,541 (GRCm38) missense probably damaging 1.00
IGL02129:Mtor APN 4 148,549,845 (GRCm38) missense possibly damaging 0.91
IGL02260:Mtor APN 4 148,538,301 (GRCm38) missense probably damaging 1.00
IGL02329:Mtor APN 4 148,534,939 (GRCm38) missense probably benign 0.16
IGL02440:Mtor APN 4 148,491,647 (GRCm38) missense probably benign 0.04
IGL02440:Mtor APN 4 148,546,429 (GRCm38) missense probably benign 0.24
IGL02449:Mtor APN 4 148,533,921 (GRCm38) missense possibly damaging 0.65
IGL02479:Mtor APN 4 148,470,584 (GRCm38) missense probably damaging 1.00
IGL02904:Mtor APN 4 148,491,612 (GRCm38) splice site probably benign
IGL02904:Mtor APN 4 148,452,394 (GRCm38) missense possibly damaging 0.55
IGL02931:Mtor APN 4 148,464,964 (GRCm38) missense probably benign 0.22
IGL03048:Mtor APN 4 148,546,390 (GRCm38) splice site probably benign
IGL03133:Mtor APN 4 148,484,319 (GRCm38) missense probably benign 0.01
IGL03142:Mtor APN 4 148,453,899 (GRCm38) missense probably benign 0.00
Brushes UTSW 4 148,463,748 (GRCm38) missense probably benign 0.00
Dynamo UTSW 4 148,462,910 (GRCm38) missense probably benign 0.00
engine UTSW 4 148,556,855 (GRCm38) splice site probably null
Erg UTSW 4 148,545,596 (GRCm38) missense probably damaging 1.00
Lindor UTSW 4 148,454,646 (GRCm38) missense probably damaging 1.00
motor UTSW 4 148,491,360 (GRCm38) missense possibly damaging 0.76
R4858_Mtor_211 UTSW 4 148,454,816 (GRCm38) makesense probably null
Vigor UTSW 4 148,538,899 (GRCm38) missense probably damaging 1.00
Vim UTSW 4 148,525,803 (GRCm38) critical splice donor site probably null
PIT4519001:Mtor UTSW 4 148,524,500 (GRCm38) missense probably damaging 1.00
R0045:Mtor UTSW 4 148,464,949 (GRCm38) missense probably benign 0.42
R0048:Mtor UTSW 4 148,538,881 (GRCm38) nonsense probably null
R0048:Mtor UTSW 4 148,538,881 (GRCm38) nonsense probably null
R0103:Mtor UTSW 4 148,533,902 (GRCm38) missense probably benign 0.05
R0112:Mtor UTSW 4 148,480,923 (GRCm38) missense probably damaging 1.00
R0137:Mtor UTSW 4 148,470,624 (GRCm38) missense possibly damaging 0.78
R0184:Mtor UTSW 4 148,464,971 (GRCm38) missense probably benign 0.05
R0208:Mtor UTSW 4 148,464,975 (GRCm38) missense probably benign 0.43
R0329:Mtor UTSW 4 148,484,380 (GRCm38) missense probably benign
R0330:Mtor UTSW 4 148,484,380 (GRCm38) missense probably benign
R0365:Mtor UTSW 4 148,486,050 (GRCm38) missense probably benign 0.01
R0537:Mtor UTSW 4 148,538,360 (GRCm38) missense probably damaging 1.00
R0542:Mtor UTSW 4 148,540,450 (GRCm38) missense probably benign 0.02
R0556:Mtor UTSW 4 148,469,380 (GRCm38) missense possibly damaging 0.88
R0646:Mtor UTSW 4 148,484,354 (GRCm38) nonsense probably null
R0710:Mtor UTSW 4 148,464,391 (GRCm38) missense possibly damaging 0.73
R0791:Mtor UTSW 4 148,462,910 (GRCm38) missense probably benign 0.00
R0792:Mtor UTSW 4 148,462,910 (GRCm38) missense probably benign 0.00
R0866:Mtor UTSW 4 148,486,056 (GRCm38) missense probably benign 0.04
R0973:Mtor UTSW 4 148,550,188 (GRCm38) missense probably damaging 1.00
R1027:Mtor UTSW 4 148,539,999 (GRCm38) missense probably benign 0.03
R1028:Mtor UTSW 4 148,538,830 (GRCm38) missense possibly damaging 0.88
R1289:Mtor UTSW 4 148,470,307 (GRCm38) missense probably benign 0.10
R1416:Mtor UTSW 4 148,491,414 (GRCm38) nonsense probably null
R1465:Mtor UTSW 4 148,525,993 (GRCm38) splice site probably benign
R1506:Mtor UTSW 4 148,536,505 (GRCm38) splice site probably benign
R1624:Mtor UTSW 4 148,547,676 (GRCm38) missense probably damaging 1.00
R1695:Mtor UTSW 4 148,538,907 (GRCm38) missense probably benign 0.08
R1771:Mtor UTSW 4 148,470,624 (GRCm38) missense possibly damaging 0.78
R1800:Mtor UTSW 4 148,462,892 (GRCm38) missense probably benign 0.00
R1855:Mtor UTSW 4 148,553,089 (GRCm38) missense probably benign 0.02
R1857:Mtor UTSW 4 148,480,879 (GRCm38) missense probably damaging 1.00
R1867:Mtor UTSW 4 148,454,632 (GRCm38) missense probably damaging 0.97
R1954:Mtor UTSW 4 148,468,273 (GRCm38) missense probably damaging 1.00
R2054:Mtor UTSW 4 148,466,025 (GRCm38) missense probably benign 0.00
R2054:Mtor UTSW 4 148,462,852 (GRCm38) missense probably benign 0.05
R2099:Mtor UTSW 4 148,550,192 (GRCm38) nonsense probably null
R2148:Mtor UTSW 4 148,456,012 (GRCm38) missense possibly damaging 0.56
R2214:Mtor UTSW 4 148,538,870 (GRCm38) missense probably benign 0.39
R2281:Mtor UTSW 4 148,489,555 (GRCm38) missense probably benign 0.02
R2512:Mtor UTSW 4 148,530,491 (GRCm38) missense possibly damaging 0.95
R2870:Mtor UTSW 4 148,540,030 (GRCm38) missense probably benign 0.00
R2870:Mtor UTSW 4 148,540,030 (GRCm38) missense probably benign 0.00
R2871:Mtor UTSW 4 148,540,030 (GRCm38) missense probably benign 0.00
R2871:Mtor UTSW 4 148,540,030 (GRCm38) missense probably benign 0.00
R2872:Mtor UTSW 4 148,540,030 (GRCm38) missense probably benign 0.00
R2872:Mtor UTSW 4 148,540,030 (GRCm38) missense probably benign 0.00
R2873:Mtor UTSW 4 148,540,030 (GRCm38) missense probably benign 0.00
R4032:Mtor UTSW 4 148,536,752 (GRCm38) missense probably benign 0.03
R4073:Mtor UTSW 4 148,549,375 (GRCm38) missense probably damaging 0.99
R4273:Mtor UTSW 4 148,550,152 (GRCm38) missense probably benign 0.21
R4611:Mtor UTSW 4 148,486,119 (GRCm38) missense probably benign 0.03
R4858:Mtor UTSW 4 148,454,816 (GRCm38) makesense probably null
R4942:Mtor UTSW 4 148,472,142 (GRCm38) missense probably benign 0.03
R4967:Mtor UTSW 4 148,491,360 (GRCm38) missense possibly damaging 0.76
R4995:Mtor UTSW 4 148,525,752 (GRCm38) missense probably damaging 1.00
R5054:Mtor UTSW 4 148,556,855 (GRCm38) splice site probably null
R5215:Mtor UTSW 4 148,453,983 (GRCm38) missense probably benign
R5249:Mtor UTSW 4 148,463,732 (GRCm38) missense probably damaging 1.00
R5289:Mtor UTSW 4 148,466,092 (GRCm38) missense possibly damaging 0.88
R5365:Mtor UTSW 4 148,550,130 (GRCm38) missense probably damaging 0.99
R5498:Mtor UTSW 4 148,540,364 (GRCm38) missense possibly damaging 0.71
R5514:Mtor UTSW 4 148,546,444 (GRCm38) missense probably damaging 1.00
R5540:Mtor UTSW 4 148,454,708 (GRCm38) missense probably benign 0.01
R5600:Mtor UTSW 4 148,491,470 (GRCm38) missense probably damaging 1.00
R5615:Mtor UTSW 4 148,538,276 (GRCm38) missense possibly damaging 0.95
R5632:Mtor UTSW 4 148,469,006 (GRCm38) missense possibly damaging 0.94
R5641:Mtor UTSW 4 148,546,425 (GRCm38) missense probably damaging 0.98
R5834:Mtor UTSW 4 148,536,536 (GRCm38) missense possibly damaging 0.95
R5984:Mtor UTSW 4 148,538,827 (GRCm38) missense probably benign 0.02
R6056:Mtor UTSW 4 148,537,435 (GRCm38) missense probably benign 0.00
R6225:Mtor UTSW 4 148,521,337 (GRCm38) missense probably benign 0.04
R6262:Mtor UTSW 4 148,526,095 (GRCm38) missense possibly damaging 0.46
R6335:Mtor UTSW 4 148,465,927 (GRCm38) missense probably damaging 1.00
R6479:Mtor UTSW 4 148,551,000 (GRCm38) missense probably benign 0.16
R6543:Mtor UTSW 4 148,545,596 (GRCm38) missense probably damaging 1.00
R6711:Mtor UTSW 4 148,452,367 (GRCm38) missense possibly damaging 0.49
R6715:Mtor UTSW 4 148,538,547 (GRCm38) missense probably benign 0.00
R6744:Mtor UTSW 4 148,458,655 (GRCm38) missense probably benign 0.01
R6748:Mtor UTSW 4 148,550,184 (GRCm38) missense probably damaging 1.00
R6762:Mtor UTSW 4 148,538,481 (GRCm38) missense possibly damaging 0.47
R6836:Mtor UTSW 4 148,489,498 (GRCm38) missense possibly damaging 0.94
R6948:Mtor UTSW 4 148,536,752 (GRCm38) missense probably benign 0.12
R6979:Mtor UTSW 4 148,524,473 (GRCm38) missense possibly damaging 0.60
R6992:Mtor UTSW 4 148,464,475 (GRCm38) missense probably benign
R7271:Mtor UTSW 4 148,546,485 (GRCm38) missense possibly damaging 0.70
R7423:Mtor UTSW 4 148,556,344 (GRCm38) missense possibly damaging 0.77
R7434:Mtor UTSW 4 148,464,959 (GRCm38) missense probably benign 0.39
R7619:Mtor UTSW 4 148,462,795 (GRCm38) missense probably damaging 0.98
R7634:Mtor UTSW 4 148,452,350 (GRCm38) missense possibly damaging 0.53
R7697:Mtor UTSW 4 148,540,308 (GRCm38) nonsense probably null
R7737:Mtor UTSW 4 148,538,738 (GRCm38) missense possibly damaging 0.95
R7791:Mtor UTSW 4 148,462,940 (GRCm38) missense probably benign 0.00
R7858:Mtor UTSW 4 148,454,646 (GRCm38) missense probably damaging 1.00
R8035:Mtor UTSW 4 148,546,399 (GRCm38) missense probably benign 0.29
R8076:Mtor UTSW 4 148,525,803 (GRCm38) critical splice donor site probably null
R8078:Mtor UTSW 4 148,468,287 (GRCm38) missense probably benign
R8928:Mtor UTSW 4 148,538,899 (GRCm38) missense probably damaging 1.00
R9040:Mtor UTSW 4 148,463,748 (GRCm38) missense probably benign 0.00
R9116:Mtor UTSW 4 148,552,741 (GRCm38) missense probably benign
R9284:Mtor UTSW 4 148,459,080 (GRCm38) missense probably benign 0.03
R9310:Mtor UTSW 4 148,469,377 (GRCm38) missense probably benign 0.03
R9374:Mtor UTSW 4 148,514,940 (GRCm38) missense probably damaging 1.00
R9417:Mtor UTSW 4 148,538,319 (GRCm38) nonsense probably null
R9465:Mtor UTSW 4 148,540,382 (GRCm38) missense possibly damaging 0.92
R9492:Mtor UTSW 4 148,484,344 (GRCm38) missense probably damaging 1.00
R9499:Mtor UTSW 4 148,514,940 (GRCm38) missense probably damaging 1.00
R9516:Mtor UTSW 4 148,484,646 (GRCm38) missense probably benign 0.23
R9600:Mtor UTSW 4 148,547,635 (GRCm38) missense possibly damaging 0.82
R9622:Mtor UTSW 4 148,483,712 (GRCm38) missense probably damaging 0.99
X0025:Mtor UTSW 4 148,530,714 (GRCm38) missense probably benign 0.09
Z1176:Mtor UTSW 4 148,550,130 (GRCm38) missense possibly damaging 0.69
Z1176:Mtor UTSW 4 148,550,125 (GRCm38) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GCACGTTGTCAGAATCTACAGCCC -3'
(R):5'- CAGTGAGTCCCAGGTTACCATTTCC -3'

Sequencing Primer
(F):5'- TGTCAGAATCTACAGCCCTAATGAG -3'
(R):5'- ACCATTTCCAAGTGGAGGGTC -3'
Posted On 2013-07-11