Mutagenetix > Incidental Mutation

Incidental Mutation 'R2099:Mtor'

233229

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

040103-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148533068-148642140 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 148634649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 2423 (Y2423*)

Ref Sequence

ENSEMBL: ENSMUSP00000099510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103221]

AlphaFold

Q9JLN9

Predicted Effect

probably null
Transcript: ENSMUST00000103221
AA Change: Y2423*

SMART Domains

Protein: ENSMUSP00000099510
Gene: ENSMUSG00000028991
AA Change: Y2423*

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,817,820 (GRCm39)	R14Q	unknown	Het
Aga	C	A	8: 53,974,166 (GRCm39)	Y286*	probably null	Het
Anks1	T	C	17: 28,197,465 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,493,937 (GRCm39)	F159I	probably damaging	Het
Asxl1	A	T	2: 153,194,187 (GRCm39)	M46L	possibly damaging	Het
Atp23	G	T	10: 126,727,595 (GRCm39)		probably null	Het
Carmil1	T	A	13: 24,357,650 (GRCm39)	L66F	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cramp1	A	G	17: 25,192,059 (GRCm39)	V1027A	probably benign	Het
Cx3cr1	G	A	9: 119,881,339 (GRCm39)	A21V	probably benign	Het
Dcxr	A	G	11: 120,616,403 (GRCm39)	F221S	probably damaging	Het
Dio2	T	C	12: 90,696,597 (GRCm39)	*130W	probably null	Het
Dnah2	T	C	11: 69,384,063 (GRCm39)	D1051G	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,429 (GRCm39)	E958G	possibly damaging	Het
Eif3a	C	A	19: 60,752,551 (GRCm39)		probably benign	Het
Ephb2	T	C	4: 136,388,066 (GRCm39)	D678G	probably damaging	Het
Fpr3	G	T	17: 18,191,443 (GRCm39)	R238L	probably damaging	Het
Frem3	A	G	8: 81,342,488 (GRCm39)	S1594G	probably benign	Het
Gbp4	A	C	5: 105,268,947 (GRCm39)	L402W	probably damaging	Het
Gdpd5	T	A	7: 99,097,696 (GRCm39)	L164Q	probably damaging	Het
Il4i1	T	C	7: 44,487,616 (GRCm39)		probably null	Het
Kcp	G	T	6: 29,496,164 (GRCm39)	C723*	probably null	Het
Klhl18	A	G	9: 110,284,486 (GRCm39)	F2L	probably damaging	Het
Lepr	T	A	4: 101,630,185 (GRCm39)	D633E	probably damaging	Het
Lifr	A	G	15: 7,186,732 (GRCm39)	I79V	probably benign	Het
Mcrs1	A	G	15: 99,147,827 (GRCm39)	S27P	probably benign	Het
Mmp3	A	G	9: 7,453,672 (GRCm39)	D431G	probably benign	Het
Ndc80	A	T	17: 71,811,773 (GRCm39)	D484E	probably benign	Het
Ndufb8	T	A	19: 44,543,749 (GRCm39)		probably benign	Het
Nmur2	A	T	11: 55,931,589 (GRCm39)	S41T	probably benign	Het
Notch2	T	C	3: 98,022,637 (GRCm39)	C819R	possibly damaging	Het
Or10d3	A	G	9: 39,461,963 (GRCm39)	V68A	probably benign	Het
Or4f7	A	G	2: 111,644,177 (GRCm39)	I298T	probably benign	Het
Or6c35	A	T	10: 129,169,152 (GRCm39)	N134I	probably damaging	Het
Pheta1	C	T	5: 121,991,349 (GRCm39)	P237L	possibly damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Samd7	T	C	3: 30,810,709 (GRCm39)	V242A	probably benign	Het
Sde2	T	C	1: 180,693,713 (GRCm39)	L401P	probably damaging	Het
Slc20a1	A	G	2: 129,049,758 (GRCm39)	D340G	probably benign	Het
Slc2a5	T	A	4: 150,227,634 (GRCm39)	Y484*	probably null	Het
Spata31d1a	A	G	13: 59,853,885 (GRCm39)	L27P	probably damaging	Het
Sqstm1	T	C	11: 50,093,811 (GRCm39)	T269A	possibly damaging	Het
Syne2	T	C	12: 76,026,747 (GRCm39)	V3525A	probably benign	Het
Tctn1	G	A	5: 122,380,772 (GRCm39)	P512L	probably damaging	Het
Tlr1	A	G	5: 65,082,411 (GRCm39)	F722S	probably damaging	Het
Treh	A	G	9: 44,595,943 (GRCm39)	Y376C	probably damaging	Het
Trim47	T	C	11: 115,997,170 (GRCm39)	N529S	probably damaging	Het
Trrap	T	C	5: 144,719,049 (GRCm39)	V184A	possibly damaging	Het
Tyrp1	T	A	4: 80,753,616 (GRCm39)	N102K	possibly damaging	Het
Uspl1	T	A	5: 149,151,568 (GRCm39)	S724T	probably damaging	Het
Vmn2r2	C	A	3: 64,024,474 (GRCm39)	K702N	probably damaging	Het
Zfp267	C	T	3: 36,218,361 (GRCm39)	T128I	possibly damaging	Het

Other mutations in Mtor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACTGTGTTAGAAATGACCTGTGAAG -3'
(R):5'- ACTCCAGCTCTCAGAACTGC -3'

Sequencing Primer
(F):5'- CCTGTGAAGGTCAGCACTACATG -3'
(R):5'- ACTGCTCTGTAATTGTCAGGGACAC -3'

Posted On

2014-09-18