Mutagenetix > Incidental Mutation

Incidental Mutation 'R5277:Rptor'

404013

Institutional Source

Beutler Lab

Gene Symbol

Rptor

Ensembl Gene

ENSMUSG00000025583

Gene Name

regulatory associated protein of MTOR, complex 1

Synonyms

Rap, raptor, 4932417H02Rik

MMRRC Submission

042864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119493731-119790402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119713782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 4 (S4G)

Ref Sequence

ENSEMBL: ENSMUSP00000125503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026671] [ENSMUST00000124401] [ENSMUST00000139728] [ENSMUST00000147781]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026671
AA Change: S482G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026671
Gene: ENSMUSG00000025583
AA Change: S482G

Domain	Start	End	E-Value	Type
Raptor_N	54	207	2.3e-98	SMART
Pfam:HEAT_2	559	668	7.9e-11	PFAM
Pfam:HEAT	602	630	1.9e-6	PFAM
low complexity region	755	772	N/A	INTRINSIC
low complexity region	877	887	N/A	INTRINSIC
low complexity region	939	945	N/A	INTRINSIC
WD40	1012	1050	2.56e1	SMART
WD40	1052	1097	4.28e0	SMART
WD40	1105	1151	1.83e2	SMART
WD40	1154	1194	1.82e-2	SMART
WD40	1200	1240	5.35e-1	SMART
WD40	1246	1281	7.13e0	SMART
WD40	1283	1329	2.67e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124401
AA Change: S4G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125503
Gene: ENSMUSG00000025583
AA Change: S4G

Domain	Start	End	E-Value	Type
Pfam:HEAT	58	88	1.2e-5	PFAM
Pfam:HEAT_2	101	170	3.9e-8	PFAM
Pfam:HEAT	102	130	1.2e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126802

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127899

Predicted Effect

probably benign
Transcript: ENSMUST00000139728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147772

Predicted Effect

probably benign
Transcript: ENSMUST00000147781

SMART Domains

Protein: ENSMUSP00000124366
Gene: ENSMUSG00000025583

Domain	Start	End	E-Value	Type
Raptor_N	54	207	2.3e-98	SMART

Meta Mutation Damage Score

0.1501

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: This gene encodes a subunit of mammalian target of rapamycin complex 1 (mTORC1), a component of the mTOR signaling pathway, which regulates cell growth in response to nutrient and energy levels. The encoded protein may regulate the assembly, localization, and substrate binding of the mTORC1 complex. Homozygous knockout mice for this gene exhibit embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality prior to somitogenesis. Mice homozygous for a conditional allele activated in dendritic cells exhibit increased susceptibility to induced colitis and expansion of certain populations of dendritic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,884,660 (GRCm39)	T54A	probably damaging	Het
Ablim1	T	C	19: 57,143,693 (GRCm39)	R89G	probably damaging	Het
Bco1	T	A	8: 117,844,128 (GRCm39)		probably null	Het
Bhmt	A	T	13: 93,761,393 (GRCm39)	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,478,390 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcaf6	A	G	1: 165,251,915 (GRCm39)	S70P	probably benign	Het
Dclre1a	C	T	19: 56,533,164 (GRCm39)	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,905,201 (GRCm39)	P4021L	probably damaging	Het
Dusp10	A	G	1: 183,769,204 (GRCm39)	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,595,243 (GRCm39)	R374C	probably benign	Het
Fyb2	G	A	4: 104,872,876 (GRCm39)	D686N	probably damaging	Het
Glra3	G	A	8: 56,444,242 (GRCm39)	M67I	possibly damaging	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gm6180	A	G	8: 42,700,177 (GRCm39)		noncoding transcript	Het
Grin2c	A	G	11: 115,144,639 (GRCm39)	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,112,186 (GRCm39)		noncoding transcript	Het
Mc3r	T	C	2: 172,091,707 (GRCm39)	F310L	probably damaging	Het
Myh4	A	G	11: 67,143,180 (GRCm39)	D1036G	probably damaging	Het
Myh6	A	G	14: 55,194,019 (GRCm39)	I790T	probably benign	Het
Myo15a	C	A	11: 60,367,940 (GRCm39)	Y233*	probably null	Het
Nckap5	A	T	1: 125,954,277 (GRCm39)	C758*	probably null	Het
Neurog3	T	A	10: 61,969,632 (GRCm39)	Y36N	probably damaging	Het
Nlrp4e	T	C	7: 23,020,863 (GRCm39)	L450P	probably benign	Het
Or52d13	A	T	7: 103,110,148 (GRCm39)	L84H	probably damaging	Het
Otog	A	G	7: 45,896,045 (GRCm39)	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,874,207 (GRCm39)	T41K	probably damaging	Het
Prmt5	A	T	14: 54,747,399 (GRCm39)	D459E	probably benign	Het
Ric8b	G	A	10: 84,783,516 (GRCm39)	V125M	probably damaging	Het
Rslcan18	T	G	13: 67,246,498 (GRCm39)	E371D	probably benign	Het
Scaf11	A	T	15: 96,317,107 (GRCm39)	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,409,611 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,217,688 (GRCm39)	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,253,885 (GRCm39)	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,723,192 (GRCm39)		probably null	Het
Tmem63c	T	A	12: 87,104,531 (GRCm39)		probably null	Het
Tmem69	A	G	4: 116,410,458 (GRCm39)	F171L	probably benign	Het
Urod	A	T	4: 116,847,482 (GRCm39)		probably benign	Het
Vmn1r37	A	T	6: 66,708,460 (GRCm39)	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,914,393 (GRCm39)	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 85,815,500 (GRCm39)	S121R	probably benign	Het
Vwde	T	C	6: 13,186,995 (GRCm39)	T831A	probably benign	Het
Wdr70	C	T	15: 8,006,465 (GRCm39)	W362*	probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp7	T	C	15: 76,765,403 (GRCm39)	V32A	probably damaging	Het

Other mutations in Rptor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Rptor	APN	11	119,690,271 (GRCm39)	missense	possibly damaging	0.92
IGL01319:Rptor	APN	11	119,781,996 (GRCm39)	missense	probably benign	0.01
IGL01375:Rptor	APN	11	119,787,262 (GRCm39)	missense	possibly damaging	0.68
IGL01899:Rptor	APN	11	119,748,279 (GRCm39)	missense	probably benign	0.04
IGL01927:Rptor	APN	11	119,548,500 (GRCm39)	missense	probably damaging	1.00
IGL02312:Rptor	APN	11	119,737,741 (GRCm39)	missense	possibly damaging	0.84
IGL02620:Rptor	APN	11	119,671,413 (GRCm39)	missense	probably benign	0.12
IGL02651:Rptor	APN	11	119,783,438 (GRCm39)	missense	possibly damaging	0.69
IGL03182:Rptor	APN	11	119,615,971 (GRCm39)	missense	probably damaging	1.00
Velocipede	UTSW	11	119,786,803 (GRCm39)	missense	possibly damaging	0.92
R0103:Rptor	UTSW	11	119,775,793 (GRCm39)	missense	probably benign	0.01
R0179:Rptor	UTSW	11	119,763,193 (GRCm39)	missense	probably benign	0.14
R0217:Rptor	UTSW	11	119,785,738 (GRCm39)	splice site	probably benign
R0219:Rptor	UTSW	11	119,712,603 (GRCm39)	intron	probably benign
R0324:Rptor	UTSW	11	119,783,467 (GRCm39)	missense	probably damaging	1.00
R0432:Rptor	UTSW	11	119,671,379 (GRCm39)	nonsense	probably null
R0718:Rptor	UTSW	11	119,763,202 (GRCm39)	missense	probably benign	0.15
R0730:Rptor	UTSW	11	119,775,780 (GRCm39)	missense	probably benign	0.06
R1019:Rptor	UTSW	11	119,734,569 (GRCm39)	missense	probably damaging	1.00
R1073:Rptor	UTSW	11	119,634,717 (GRCm39)	missense	possibly damaging	0.93
R1424:Rptor	UTSW	11	119,671,419 (GRCm39)	nonsense	probably null
R1579:Rptor	UTSW	11	119,786,827 (GRCm39)	missense	probably benign	0.00
R1766:Rptor	UTSW	11	119,615,887 (GRCm39)	missense	probably damaging	0.99
R1844:Rptor	UTSW	11	119,647,146 (GRCm39)	missense	probably damaging	1.00
R2180:Rptor	UTSW	11	119,615,970 (GRCm39)	missense	probably damaging	1.00
R2274:Rptor	UTSW	11	119,647,148 (GRCm39)	nonsense	probably null
R2275:Rptor	UTSW	11	119,647,148 (GRCm39)	nonsense	probably null
R2408:Rptor	UTSW	11	119,748,277 (GRCm39)	missense	probably damaging	0.99
R2981:Rptor	UTSW	11	119,756,420 (GRCm39)	missense	probably damaging	1.00
R2996:Rptor	UTSW	11	119,747,124 (GRCm39)	missense	probably damaging	1.00
R3001:Rptor	UTSW	11	119,763,197 (GRCm39)	missense	possibly damaging	0.94
R3002:Rptor	UTSW	11	119,763,197 (GRCm39)	missense	possibly damaging	0.94
R3003:Rptor	UTSW	11	119,763,197 (GRCm39)	missense	possibly damaging	0.94
R4358:Rptor	UTSW	11	119,562,171 (GRCm39)	missense	probably damaging	0.98
R4592:Rptor	UTSW	11	119,689,666 (GRCm39)	missense	probably null	1.00
R4647:Rptor	UTSW	11	119,781,989 (GRCm39)	missense	probably benign	0.33
R4666:Rptor	UTSW	11	119,634,708 (GRCm39)	missense	probably damaging	1.00
R4958:Rptor	UTSW	11	119,748,217 (GRCm39)	missense	probably benign	0.29
R4974:Rptor	UTSW	11	119,712,466 (GRCm39)	intron	probably benign
R5073:Rptor	UTSW	11	119,787,305 (GRCm39)	missense	possibly damaging	0.71
R5199:Rptor	UTSW	11	119,494,642 (GRCm39)	missense	probably benign
R5216:Rptor	UTSW	11	119,734,539 (GRCm39)	missense	probably damaging	0.98
R5219:Rptor	UTSW	11	119,734,539 (GRCm39)	missense	probably damaging	0.98
R5365:Rptor	UTSW	11	119,734,539 (GRCm39)	missense	probably damaging	0.98
R5366:Rptor	UTSW	11	119,734,539 (GRCm39)	missense	probably damaging	0.98
R5447:Rptor	UTSW	11	119,734,539 (GRCm39)	missense	probably damaging	0.98
R5630:Rptor	UTSW	11	119,647,075 (GRCm39)	missense	probably benign	0.01
R6220:Rptor	UTSW	11	119,788,268 (GRCm39)	missense	possibly damaging	0.83
R6567:Rptor	UTSW	11	119,786,838 (GRCm39)	missense	probably benign	0.00
R6741:Rptor	UTSW	11	119,786,803 (GRCm39)	missense	possibly damaging	0.92
R6915:Rptor	UTSW	11	119,647,171 (GRCm39)	missense	probably damaging	0.99
R7032:Rptor	UTSW	11	119,737,762 (GRCm39)	missense	probably benign	0.00
R7051:Rptor	UTSW	11	119,765,012 (GRCm39)	utr 3 prime	probably benign
R7396:Rptor	UTSW	11	119,763,181 (GRCm39)	missense	probably benign	0.10
R7429:Rptor	UTSW	11	119,737,654 (GRCm39)	missense	probably damaging	1.00
R7430:Rptor	UTSW	11	119,737,654 (GRCm39)	missense	probably damaging	1.00
R7447:Rptor	UTSW	11	119,775,805 (GRCm39)	missense	probably benign	0.00
R7595:Rptor	UTSW	11	119,634,779 (GRCm39)	missense	possibly damaging	0.82
R7776:Rptor	UTSW	11	119,783,453 (GRCm39)	missense	probably benign	0.01
R7854:Rptor	UTSW	11	119,748,779 (GRCm39)	missense	probably benign	0.02
R8288:Rptor	UTSW	11	119,748,763 (GRCm39)	missense	probably benign	0.02
R8305:Rptor	UTSW	11	119,702,812 (GRCm39)	missense	probably damaging	1.00
R8328:Rptor	UTSW	11	119,783,473 (GRCm39)	missense	probably benign	0.00
R8351:Rptor	UTSW	11	119,783,465 (GRCm39)	missense	probably benign	0.22
R8772:Rptor	UTSW	11	119,615,858 (GRCm39)	missense	probably damaging	1.00
R8871:Rptor	UTSW	11	119,494,751 (GRCm39)	missense	probably benign	0.01
R8925:Rptor	UTSW	11	119,782,036 (GRCm39)	missense	probably benign	0.11
R8927:Rptor	UTSW	11	119,782,036 (GRCm39)	missense	probably benign	0.11
R8981:Rptor	UTSW	11	119,734,508 (GRCm39)	missense	possibly damaging	0.90
R9149:Rptor	UTSW	11	119,777,896 (GRCm39)	missense	probably benign	0.05
R9213:Rptor	UTSW	11	119,494,765 (GRCm39)	missense	probably benign
R9224:Rptor	UTSW	11	119,785,113 (GRCm39)	missense	probably benign	0.11
R9290:Rptor	UTSW	11	119,702,823 (GRCm39)	missense	probably benign	0.00
R9314:Rptor	UTSW	11	119,786,772 (GRCm39)	missense	probably benign	0.43
R9371:Rptor	UTSW	11	119,562,152 (GRCm39)	missense	possibly damaging	0.66
R9719:Rptor	UTSW	11	119,781,940 (GRCm39)	missense	probably benign	0.13
R9751:Rptor	UTSW	11	119,777,964 (GRCm39)	missense	probably benign	0.02
X0050:Rptor	UTSW	11	119,737,231 (GRCm39)	missense	probably benign	0.14
X0066:Rptor	UTSW	11	119,748,692 (GRCm39)	missense	probably benign	0.31
Z0001:Rptor	UTSW	11	119,762,318 (GRCm39)	critical splice acceptor site	probably benign
Z0001:Rptor	UTSW	11	119,748,279 (GRCm39)	critical splice donor site	probably benign
Z0001:Rptor	UTSW	11	119,742,294 (GRCm39)	critical splice donor site	probably benign
Z0001:Rptor	UTSW	11	119,737,578 (GRCm39)	critical splice acceptor site	probably null
Z0001:Rptor	UTSW	11	119,690,145 (GRCm39)	critical splice acceptor site	probably benign
Z0001:Rptor	UTSW	11	119,647,241 (GRCm39)	critical splice donor site	probably benign
Z0001:Rptor	UTSW	11	119,647,062 (GRCm39)	splice site	probably null
Z0001:Rptor	UTSW	11	119,494,798 (GRCm39)	critical splice donor site	probably null
Z0001:Rptor	UTSW	11	119,787,375 (GRCm39)	critical splice donor site	probably benign
Z0001:Rptor	UTSW	11	119,764,977 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCAGGCTAGCATTGAAGG -3'
(R):5'- GCATACAAGTTTGGAAGGGC -3'

Sequencing Primer
(F):5'- GACAGAAGAATCCAACAGTGGTTCC -3'
(R):5'- TACAAGTTTGGAAGGGCAGGGG -3'

Posted On

2016-07-22