Mutagenetix > Incidental Mutation

Incidental Mutation 'R1915:Rictor'

214808

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

039933-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6737860-6829882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 6789053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 223 (I223R)

Ref Sequence

ENSEMBL: ENSMUSP00000051809 (fasta)

Gene Model

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

AlphaFold

Q6QI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000061656
AA Change: I223R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: I223R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228918

Meta Mutation Damage Score

0.8660

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

100% (85/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Adam2	C	A	14: 66,275,006 (GRCm39)	V576F	possibly damaging	Het
Afmid	T	C	11: 117,726,625 (GRCm39)	F250L	possibly damaging	Het
Apc2	A	T	10: 80,151,701 (GRCm39)	I2252L	probably benign	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,619 (GRCm39)		noncoding transcript	Het
Cdkn2aip	T	C	8: 48,164,961 (GRCm39)	T251A	probably benign	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Cfap54	A	G	10: 92,720,564 (GRCm39)	V2630A	unknown	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cldn23	T	A	8: 36,293,099 (GRCm39)	I130F	possibly damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Dcbld1	G	T	10: 52,193,131 (GRCm39)	C292F	probably damaging	Het
Dlgap5	T	C	14: 47,645,230 (GRCm39)	K304E	probably benign	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exoc3	A	G	13: 74,321,413 (GRCm39)		probably null	Het
F5	C	A	1: 164,010,486 (GRCm39)	R406S	probably damaging	Het
Fahd1	A	T	17: 25,068,622 (GRCm39)	W152R	possibly damaging	Het
Farp2	T	A	1: 93,456,424 (GRCm39)	S36T	probably benign	Het
Foxs1	A	G	2: 152,774,760 (GRCm39)	C98R	probably damaging	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,054,889 (GRCm39)		noncoding transcript	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcna4	T	C	2: 107,127,123 (GRCm39)	V619A	probably benign	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Kif1b	G	A	4: 149,351,673 (GRCm39)	T263I	probably damaging	Het
Large2	G	T	2: 92,196,170 (GRCm39)		probably benign	Het
Lcp1	T	A	14: 75,436,737 (GRCm39)	Y28N	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mccc2	T	C	13: 100,085,038 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mlst8	C	T	17: 24,696,264 (GRCm39)	W155*	probably null	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Nalcn	C	T	14: 123,540,181 (GRCm39)	V1140I	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nup58	T	C	14: 60,475,980 (GRCm39)	K279R	probably benign	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or11g1	C	T	14: 50,651,798 (GRCm39)	P266S	probably damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Or8k30	A	G	2: 86,339,343 (GRCm39)	D180G	probably damaging	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Pram1	A	T	17: 33,860,131 (GRCm39)	I233F	probably benign	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Ptpn23	A	T	9: 110,215,575 (GRCm39)	D1396E	probably damaging	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Stk36	T	A	1: 74,673,346 (GRCm39)	S1080T	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Uri1	A	T	7: 37,661,103 (GRCm39)	I480K	probably damaging	Het
Zcchc3	A	C	2: 152,255,601 (GRCm39)	V366G	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	Het
Zfp54	T	C	17: 21,654,414 (GRCm39)	Y303H	probably benign	Het
Zfp729b	A	G	13: 67,741,339 (GRCm39)	F319L	probably damaging	Het
Zfp934	G	A	13: 62,665,769 (GRCm39)	H291Y	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
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
R7452: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'- CATTTTAAAAGTCAGGCTTGGGG -3'
(R):5'- TATAGCACCCGAGTCTACATTTC -3'

Sequencing Primer
(F):5'- TCAGGCTTGGGGAAAGATATTAAATG -3'
(R):5'- GCTCTTCCAGAGGATCAAAGTTCG -3'

Posted On

2014-07-14