Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Rictor'

577825

Institutional Source

Beutler Lab

Gene Symbol

Rictor

Ensembl Gene

ENSMUSG00000050310

Gene Name

RPTOR independent companion of MTOR, complex 2

Synonyms

D530039E11Rik, 4921505C17Rik, 6030405M08Rik

MMRRC Submission

045526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6737860-6829882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6801635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 441 (S441L)

Ref Sequence

ENSEMBL: ENSMUSP00000051809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061656]

AlphaFold

Q6QI06

Predicted Effect

probably benign
Transcript: ENSMUST00000061656
AA Change: S441L

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: S441L

Domain	Start	End	E-Value	Type
RICTOR_N	57	439	4.02e-185	SMART
RICTOR_M	523	742	5.66e-98	SMART
RasGEF_N_2	743	857	1.26e-54	SMART
RICTOR_V	920	992	1.44e-40	SMART
low complexity region	1019	1043	N/A	INTRINSIC
RICTOR_phospho	1084	1189	4.06e-58	SMART
low complexity region	1221	1239	N/A	INTRINSIC
low complexity region	1255	1266	N/A	INTRINSIC
low complexity region	1273	1287	N/A	INTRINSIC
low complexity region	1404	1414	N/A	INTRINSIC
low complexity region	1464	1474	N/A	INTRINSIC
low complexity region	1616	1628	N/A	INTRINSIC

Meta Mutation Damage Score

0.1015

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis associated with abnormal placental morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,618,291 (GRCm39)	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,190,897 (GRCm39)	G249R	probably damaging	Het
Actn1	T	C	12: 80,230,376 (GRCm39)	T293A	probably benign	Het
Adamts5	T	A	16: 85,674,869 (GRCm39)	T432S	probably benign	Het
Adh5	A	G	3: 138,160,506 (GRCm39)	T347A	probably benign	Het
Agbl5	A	G	5: 31,050,735 (GRCm39)	D432G	probably damaging	Het
Ank3	A	G	10: 69,734,881 (GRCm39)	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,885,724 (GRCm39)	V743G	probably benign	Het
Arap2	A	T	5: 62,833,892 (GRCm39)	S858R	probably benign	Het
Arid1a	A	C	4: 133,480,438 (GRCm39)	V162G	possibly damaging	Het
Armc9	A	G	1: 86,140,814 (GRCm39)	D588G	possibly damaging	Het
Art3	A	G	5: 92,540,539 (GRCm39)	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,946,527 (GRCm39)	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,075 (GRCm39)	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,717,596 (GRCm39)	L469P	probably damaging	Het
Celsr2	T	A	3: 108,320,406 (GRCm39)	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,452,981 (GRCm39)	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731 (GRCm39)	D2024A	probably benign	Het
Corin	T	A	5: 72,592,590 (GRCm39)	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,795 (GRCm39)	I359F	probably damaging	Het
Defb6	T	C	8: 19,275,540 (GRCm39)	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,686,196 (GRCm39)	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,866,664 (GRCm39)	F682S	probably damaging	Het
Enpep	T	A	3: 129,065,052 (GRCm39)	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,730,132 (GRCm39)	N462S	probably damaging	Het
Ephb3	T	C	16: 21,036,107 (GRCm39)		probably null	Het
F7	C	T	8: 13,085,215 (GRCm39)	H414Y	probably benign	Het
Fbn1	T	C	2: 125,347,375 (GRCm39)	H50R	possibly damaging	Het
Fig4	T	C	10: 41,116,633 (GRCm39)	D586G	possibly damaging	Het
Fryl	A	G	5: 73,181,331 (GRCm39)	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,800,240 (GRCm39)	H30Q	possibly damaging	Het
Garre1	A	G	7: 33,945,096 (GRCm39)	S595P	probably benign	Het
Gm12886	G	A	4: 121,274,671 (GRCm39)	Q70*	probably null	Het
Gm8104	A	C	14: 42,967,501 (GRCm39)	T190P	probably benign	Het
Hps3	A	T	3: 20,065,592 (GRCm39)	N749K	probably damaging	Het
Hr	A	G	14: 70,808,926 (GRCm39)	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,423,074 (GRCm39)	S210T	probably benign	Het
Ift80	T	C	3: 68,901,615 (GRCm39)		probably null	Het
Iqgap1	A	G	7: 80,410,577 (GRCm39)	V212A	possibly damaging	Het
Itih5	A	G	2: 10,243,607 (GRCm39)	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,552,686 (GRCm39)	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,262,692 (GRCm39)	Y52C	probably benign	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030 (GRCm39)	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705 (GRCm39)	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,384,733 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,517,056 (GRCm39)	I458L	probably benign	Het
Nfam1	T	A	15: 82,899,163 (GRCm39)	M128L	probably benign	Het
Or2y13	C	A	11: 49,415,208 (GRCm39)	H219Q	probably benign	Het
Or4g16	A	G	2: 111,137,266 (GRCm39)	T239A	probably damaging	Het
Or5p75-ps1	C	T	7: 108,107,800 (GRCm39)	T179I	unknown	Het
Or8b50	A	T	9: 38,518,384 (GRCm39)	I208F	probably benign	Het
P2ry14	C	T	3: 59,023,466 (GRCm39)	G7D	probably benign	Het
Pde11a	A	G	2: 75,966,758 (GRCm39)	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,058,467 (GRCm39)	V262I	probably benign	Het
Poli	A	G	18: 70,642,049 (GRCm39)	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,195,783 (GRCm39)	W93R	probably damaging	Het
Rbm46	T	C	3: 82,771,428 (GRCm39)	M396V	probably benign	Het
Rcor2	T	C	19: 7,248,587 (GRCm39)	V212A	probably benign	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Skp2	T	A	15: 9,113,920 (GRCm39)	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,269,034 (GRCm39)	S312T	probably benign	Het
Sstr1	T	C	12: 58,260,142 (GRCm39)	L255P	probably damaging	Het
Steap3	T	C	1: 120,155,585 (GRCm39)	E458G	possibly damaging	Het
Sv2b	T	A	7: 74,797,461 (GRCm39)	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	A	G	8: 70,630,138 (GRCm39)	D108G	probably damaging	Het
Traf5	T	A	1: 191,731,792 (GRCm39)	I47F		Het
Trp53bp2	C	T	1: 182,274,133 (GRCm39)	Q95*	probably null	Het
Ttn	G	T	2: 76,707,487 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,040,397 (GRCm39)	S1626P	probably benign	Het
Usp3	T	C	9: 66,474,180 (GRCm39)	R33G	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het

Other mutations in Rictor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Rictor	APN	15	6,816,071 (GRCm39)	missense	probably damaging	0.99
IGL00785:Rictor	APN	15	6,806,431 (GRCm39)	missense	probably damaging	1.00
IGL00801:Rictor	APN	15	6,824,015 (GRCm39)	missense	probably damaging	1.00
IGL01072:Rictor	APN	15	6,819,043 (GRCm39)	missense	probably damaging	0.98
IGL01139:Rictor	APN	15	6,807,749 (GRCm39)	missense	probably damaging	1.00
IGL01303:Rictor	APN	15	6,738,119 (GRCm39)	missense	probably benign	0.10
IGL01307:Rictor	APN	15	6,804,085 (GRCm39)	splice site	probably null
IGL01767:Rictor	APN	15	6,806,865 (GRCm39)	missense	probably damaging	1.00
IGL01774:Rictor	APN	15	6,799,258 (GRCm39)	missense	probably damaging	1.00
IGL01800:Rictor	APN	15	6,804,182 (GRCm39)	missense	probably damaging	0.99
IGL02192:Rictor	APN	15	6,815,895 (GRCm39)	missense	probably benign	0.00
IGL02503:Rictor	APN	15	6,815,924 (GRCm39)	missense	probably benign	0.06
IGL02652:Rictor	APN	15	6,805,668 (GRCm39)	critical splice donor site	probably null
IGL02656:Rictor	APN	15	6,806,401 (GRCm39)	missense	probably damaging	0.98
IGL02752:Rictor	APN	15	6,816,852 (GRCm39)	missense	probably benign	0.02
IGL03000:Rictor	APN	15	6,798,721 (GRCm39)	splice site	probably benign
IGL03118:Rictor	APN	15	6,788,999 (GRCm39)	missense	possibly damaging	0.93
IGL03182:Rictor	APN	15	6,819,079 (GRCm39)	missense	probably benign	0.08
Tense	UTSW	15	6,788,977 (GRCm39)	missense	possibly damaging	0.94
Tonus	UTSW	15	6,798,815 (GRCm39)	critical splice donor site	probably null
Torrid	UTSW	15	6,789,053 (GRCm39)	missense	probably damaging	1.00
R0149:Rictor	UTSW	15	6,813,588 (GRCm39)	missense	possibly damaging	0.76
R0288:Rictor	UTSW	15	6,816,021 (GRCm39)	missense	probably benign	0.08
R0304:Rictor	UTSW	15	6,815,852 (GRCm39)	splice site	probably null
R0336:Rictor	UTSW	15	6,806,234 (GRCm39)	critical splice acceptor site	probably null
R0361:Rictor	UTSW	15	6,813,588 (GRCm39)	missense	possibly damaging	0.76
R0423:Rictor	UTSW	15	6,803,381 (GRCm39)	missense	possibly damaging	0.77
R0453:Rictor	UTSW	15	6,738,123 (GRCm39)	missense	probably benign	0.01
R0515:Rictor	UTSW	15	6,798,782 (GRCm39)	missense	probably damaging	1.00
R0630:Rictor	UTSW	15	6,823,973 (GRCm39)	missense	probably damaging	1.00
R0730:Rictor	UTSW	15	6,803,467 (GRCm39)	splice site	probably benign
R0744:Rictor	UTSW	15	6,793,759 (GRCm39)	critical splice acceptor site	probably null
R0836:Rictor	UTSW	15	6,793,759 (GRCm39)	critical splice acceptor site	probably null
R0881:Rictor	UTSW	15	6,821,151 (GRCm39)	missense	probably benign
R1114:Rictor	UTSW	15	6,823,486 (GRCm39)	nonsense	probably null
R1367:Rictor	UTSW	15	6,820,119 (GRCm39)	splice site	probably benign
R1655:Rictor	UTSW	15	6,801,693 (GRCm39)	missense	probably benign	0.00
R1678:Rictor	UTSW	15	6,785,952 (GRCm39)	missense	probably benign	0.07
R1679:Rictor	UTSW	15	6,797,571 (GRCm39)	missense	possibly damaging	0.92
R1754:Rictor	UTSW	15	6,764,849 (GRCm39)	missense	probably damaging	1.00
R1757:Rictor	UTSW	15	6,803,343 (GRCm39)	missense	possibly damaging	0.95
R1762:Rictor	UTSW	15	6,786,054 (GRCm39)	missense	probably benign	0.00
R1914:Rictor	UTSW	15	6,789,053 (GRCm39)	missense	probably damaging	1.00
R1915:Rictor	UTSW	15	6,789,053 (GRCm39)	missense	probably damaging	1.00
R1994:Rictor	UTSW	15	6,805,637 (GRCm39)	missense	probably benign	0.18
R2145:Rictor	UTSW	15	6,794,588 (GRCm39)	missense	probably damaging	1.00
R2182:Rictor	UTSW	15	6,801,685 (GRCm39)	missense	probably damaging	0.96
R2191:Rictor	UTSW	15	6,789,095 (GRCm39)	missense	probably benign	0.04
R2357:Rictor	UTSW	15	6,813,043 (GRCm39)	missense	probably damaging	0.99
R2914:Rictor	UTSW	15	6,799,476 (GRCm39)	critical splice donor site	probably null
R3082:Rictor	UTSW	15	6,804,338 (GRCm39)	missense	probably benign	0.15
R3885:Rictor	UTSW	15	6,789,091 (GRCm39)	missense	probably damaging	1.00
R3900:Rictor	UTSW	15	6,818,954 (GRCm39)	missense	probably benign	0.01
R4376:Rictor	UTSW	15	6,816,448 (GRCm39)	missense	probably benign	0.00
R4611:Rictor	UTSW	15	6,816,625 (GRCm39)	missense	possibly damaging	0.75
R4644:Rictor	UTSW	15	6,807,416 (GRCm39)	nonsense	probably null
R4718:Rictor	UTSW	15	6,812,641 (GRCm39)	missense	possibly damaging	0.81
R4822:Rictor	UTSW	15	6,821,161 (GRCm39)	missense	probably benign	0.01
R4980:Rictor	UTSW	15	6,811,141 (GRCm39)	missense	probably damaging	1.00
R5034:Rictor	UTSW	15	6,797,576 (GRCm39)	missense	probably damaging	0.98
R5179:Rictor	UTSW	15	6,825,421 (GRCm39)	missense	probably damaging	1.00
R5386:Rictor	UTSW	15	6,818,985 (GRCm39)	missense	probably benign	0.37
R5532:Rictor	UTSW	15	6,819,046 (GRCm39)	missense	probably damaging	1.00
R5549:Rictor	UTSW	15	6,816,391 (GRCm39)	missense	probably damaging	1.00
R5715:Rictor	UTSW	15	6,780,197 (GRCm39)	nonsense	probably null
R5733:Rictor	UTSW	15	6,812,585 (GRCm39)	missense	probably benign
R5822:Rictor	UTSW	15	6,823,487 (GRCm39)	missense	probably benign	0.00
R5848:Rictor	UTSW	15	6,823,487 (GRCm39)	missense	probably benign	0.00
R5849:Rictor	UTSW	15	6,823,487 (GRCm39)	missense	probably benign	0.00
R5850:Rictor	UTSW	15	6,823,487 (GRCm39)	missense	probably benign	0.00
R5854:Rictor	UTSW	15	6,823,487 (GRCm39)	missense	probably benign	0.00
R5855:Rictor	UTSW	15	6,823,487 (GRCm39)	missense	probably benign	0.00
R5856:Rictor	UTSW	15	6,823,487 (GRCm39)	missense	probably benign	0.00
R5936:Rictor	UTSW	15	6,813,642 (GRCm39)	missense	probably damaging	0.99
R6155:Rictor	UTSW	15	6,823,458 (GRCm39)	missense	probably benign	0.44
R6394:Rictor	UTSW	15	6,798,790 (GRCm39)	missense	possibly damaging	0.59
R6549:Rictor	UTSW	15	6,825,656 (GRCm39)	missense	probably damaging	1.00
R6611:Rictor	UTSW	15	6,780,140 (GRCm39)	missense	probably damaging	1.00
R6657:Rictor	UTSW	15	6,788,977 (GRCm39)	missense	possibly damaging	0.94
R6705:Rictor	UTSW	15	6,823,493 (GRCm39)	missense	probably benign	0.00
R6819:Rictor	UTSW	15	6,825,517 (GRCm39)	critical splice donor site	probably null
R6985:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R6989:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7016:Rictor	UTSW	15	6,804,361 (GRCm39)	critical splice donor site	probably null
R7030:Rictor	UTSW	15	6,737,934 (GRCm39)	critical splice donor site	probably null
R7066:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7067:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7216:Rictor	UTSW	15	6,798,782 (GRCm39)	missense	probably damaging	1.00
R7396:Rictor	UTSW	15	6,816,462 (GRCm39)	missense	not run
R7449:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7450:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7616:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7620:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7643:Rictor	UTSW	15	6,798,750 (GRCm39)	nonsense	probably null
R7699:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7700:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7749:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7750:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7751:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7753:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7841:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7894:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7897:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7898:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7937:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R7944:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R8062:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R8063:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R8094:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R8119:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R8134:Rictor	UTSW	15	6,801,635 (GRCm39)	missense	probably benign	0.27
R8166:Rictor	UTSW	15	6,798,815 (GRCm39)	critical splice donor site	probably null
R8324:Rictor	UTSW	15	6,775,043 (GRCm39)	missense	probably damaging	1.00
R8343:Rictor	UTSW	15	6,807,800 (GRCm39)	critical splice donor site	probably null
R8691:Rictor	UTSW	15	6,816,513 (GRCm39)	missense	probably damaging	1.00
R8859:Rictor	UTSW	15	6,813,067 (GRCm39)	missense	probably damaging	0.98
R8953:Rictor	UTSW	15	6,823,928 (GRCm39)	missense	probably benign	0.39
R8977:Rictor	UTSW	15	6,812,566 (GRCm39)	missense	probably benign
R9008:Rictor	UTSW	15	6,801,610 (GRCm39)	splice site	probably benign
R9369:Rictor	UTSW	15	6,773,848 (GRCm39)	missense	probably benign	0.00
R9563:Rictor	UTSW	15	6,797,562 (GRCm39)	missense	possibly damaging	0.83
R9695:Rictor	UTSW	15	6,816,010 (GRCm39)	missense	probably benign	0.00
X0020:Rictor	UTSW	15	6,785,963 (GRCm39)	missense	probably benign	0.32
X0060:Rictor	UTSW	15	6,816,033 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATTGGCAACTTTTAGAAGCCA -3'
(R):5'- AGAATTGTAACTTCCCCTTCTTGG -3'

Sequencing Primer
(F):5'- CCATGTAGATCCTGGGATAGAACTC -3'
(R):5'- ACACAACCTATCAACTCCTTGTTTTC -3'

Posted On

2019-10-07