Incidental Mutation 'R5054:Mtor'
ID 390697
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 042644-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5054 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148533068-148642140 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 148641312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017408] [ENSMUST00000076022] [ENSMUST00000097781] [ENSMUST00000103221]
AlphaFold Q9JLN9
Predicted Effect probably null
Transcript: ENSMUST00000017408
SMART Domains Protein: ENSMUSP00000017408
Gene: ENSMUSG00000017264

DomainStartEndE-ValueType
Pfam:PMC2NT 44 133 2.7e-26 PFAM
low complexity region 219 230 N/A INTRINSIC
35EXOc 288 456 7.84e-53 SMART
HRDC 503 583 8.24e-25 SMART
low complexity region 745 760 N/A INTRINSIC
coiled coil region 769 800 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000076022
SMART Domains Protein: ENSMUSP00000075401
Gene: ENSMUSG00000017264

DomainStartEndE-ValueType
Pfam:PMC2NT 43 134 5.1e-30 PFAM
low complexity region 219 230 N/A INTRINSIC
35EXOc 288 456 7.84e-53 SMART
HRDC 503 583 8.24e-25 SMART
low complexity region 720 735 N/A INTRINSIC
coiled coil region 744 775 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097781
SMART Domains Protein: ENSMUSP00000095388
Gene: ENSMUSG00000017264

DomainStartEndE-ValueType
Pfam:PMC2NT 43 134 1.4e-30 PFAM
low complexity region 219 230 N/A INTRINSIC
35EXOc 288 456 7.84e-53 SMART
HRDC 503 583 8.24e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103221
AA Change: W2549R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991
AA Change: W2549R

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: ENSMUST00000158000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173154
Meta Mutation Damage Score 0.9729 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 94% (67/71)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,837,315 (GRCm39) Y257H probably damaging Het
Adam28 C T 14: 68,855,164 (GRCm39) C659Y probably damaging Het
Adamtsl2 G A 2: 26,991,732 (GRCm39) E627K probably damaging Het
Atad5 T A 11: 79,985,502 (GRCm39) S196R probably benign Het
Bcam T A 7: 19,490,785 (GRCm39) probably benign Het
Birc6 A G 17: 74,962,320 (GRCm39) H3978R probably damaging Het
Btbd7 T C 12: 102,804,471 (GRCm39) I190V probably benign Het
Ccdc8 T C 7: 16,728,970 (GRCm39) V153A probably damaging Het
Cyp2a5 C G 7: 26,540,529 (GRCm39) R68G probably damaging Het
Dock3 T C 9: 106,815,105 (GRCm39) Y1254C probably damaging Het
Dync2h1 T C 9: 7,085,007 (GRCm39) E2794G possibly damaging Het
Dytn C A 1: 63,700,318 (GRCm39) V271L possibly damaging Het
Eif1ad15 T C 12: 88,288,071 (GRCm39) I61V probably benign Het
Eif2s2 A C 2: 154,734,590 (GRCm39) probably null Het
Fndc7 A G 3: 108,788,663 (GRCm39) S193P probably damaging Het
Fzr1 G A 10: 81,207,253 (GRCm39) probably benign Het
Gm17472 T C 6: 42,957,938 (GRCm39) I69T probably damaging Het
Gmppa C A 1: 75,416,015 (GRCm39) Y137* probably null Het
Gpr45 A G 1: 43,071,809 (GRCm39) I151V probably benign Het
H1f0 G A 15: 78,912,973 (GRCm39) A18T probably damaging Het
Hbb-bh1 C T 7: 103,491,063 (GRCm39) V114I probably benign Het
Impa2 C A 18: 67,439,797 (GRCm39) P98Q probably damaging Het
Kazn T C 4: 141,835,957 (GRCm39) N573D unknown Het
Kcna2 A T 3: 107,011,656 (GRCm39) D79V probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kif13a A G 13: 46,956,122 (GRCm39) Y561H probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra1 T A 6: 130,352,247 (GRCm39) Q165L probably damaging Het
Mat2b T A 11: 40,570,869 (GRCm39) R318S probably damaging Het
Mgat4d G A 8: 84,094,837 (GRCm39) probably null Het
Nostrin A T 2: 69,006,057 (GRCm39) Q247L possibly damaging Het
Obi1 C T 14: 104,745,466 (GRCm39) G70E probably damaging Het
Obscn T C 11: 58,964,443 (GRCm39) E3033G probably damaging Het
Pam C A 1: 97,749,642 (GRCm39) D839Y probably damaging Het
Pds5a A G 5: 65,795,157 (GRCm39) V693A probably damaging Het
Pigo A T 4: 43,021,337 (GRCm39) L535Q probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptar1 G T 19: 23,671,729 (GRCm39) R44L probably damaging Het
Rad51c T C 11: 87,288,580 (GRCm39) H201R probably benign Het
Rims2 A T 15: 39,381,265 (GRCm39) probably null Het
Rpl22l1 T G 3: 28,860,985 (GRCm39) S67A possibly damaging Het
Rps10 A G 17: 27,849,454 (GRCm39) S143P probably damaging Het
Rundc1 T C 11: 101,315,967 (GRCm39) V13A probably benign Het
Sephs2 C A 7: 126,872,564 (GRCm39) M176I probably benign Het
Serpina16 C T 12: 103,641,189 (GRCm39) V179I probably benign Het
Serpini2 T A 3: 75,166,784 (GRCm39) T158S probably damaging Het
Slc12a3 A G 8: 95,072,979 (GRCm39) R701G probably damaging Het
Slc1a6 A G 10: 78,650,436 (GRCm39) E558G probably damaging Het
Ssx2ip T C 3: 146,136,672 (GRCm39) probably benign Het
Tbr1 A T 2: 61,636,346 (GRCm39) I241F possibly damaging Het
Tgfa G C 6: 86,247,064 (GRCm39) probably null Het
Tlr12 T A 4: 128,511,063 (GRCm39) K396* probably null Het
Tmppe A G 9: 114,235,026 (GRCm39) I442V probably benign Het
Tubb3 T C 8: 124,147,607 (GRCm39) V180A probably damaging Het
Vmn1r222 A G 13: 23,416,901 (GRCm39) V104A probably damaging Het
Vmn2r95 G T 17: 18,671,708 (GRCm39) V482L possibly damaging Het
Zfp184 G T 13: 22,143,452 (GRCm39) R386L possibly damaging Het
Zfp444 T A 7: 6,192,792 (GRCm39) V270E probably damaging Het
Zfp985 A T 4: 147,667,438 (GRCm39) Y102F probably damaging 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
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
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'- TCACTCCTGAGATGTAGAAGGG -3'
(R):5'- ACAGTGTCTTTTCAACAGCAGC -3'

Sequencing Primer
(F):5'- CTCCTGAGATGTAGAAGGGCACAG -3'
(R):5'- GTCTTTTCAACAGCAGCTAGGAG -3'
Posted On 2016-06-06