Mutagenetix > Incidental Mutation

Incidental Mutation 'R0423:Rictor'

38604

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

038625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0423 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

6737860-6829882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6803381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 498 (I498F)

Ref Sequence

ENSEMBL: ENSMUSP00000051809 (fasta)

Gene Model

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

AlphaFold

Q6QI06

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061656
AA Change: I498F

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: I498F

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: ENSMUST00000228266

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.9%

Validation Efficiency

99% (84/85)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,261,825 (GRCm39)		noncoding transcript	Het
A630001G21Rik	A	G	1: 85,654,187 (GRCm39)	I50T	probably benign	Het
Abhd12	T	C	2: 150,680,312 (GRCm39)	T264A	possibly damaging	Het
Acsm3	T	C	7: 119,376,382 (GRCm39)	Y370H	probably damaging	Het
Ank2	G	T	3: 126,723,509 (GRCm39)	Y3789*	probably null	Het
Anxa4	C	T	6: 86,737,719 (GRCm39)	A1T	probably damaging	Het
Apba1	T	A	19: 23,922,362 (GRCm39)	V810D	probably damaging	Het
Bank1	A	G	3: 135,989,778 (GRCm39)	I104T	possibly damaging	Het
Birc6	T	C	17: 75,003,292 (GRCm39)	Y4721H	probably damaging	Het
Bmpr2	A	G	1: 59,907,669 (GRCm39)	T921A	probably benign	Het
Ccdc102a	A	C	8: 95,632,554 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,869,794 (GRCm39)	D904Y	probably damaging	Het
Ccdc96	A	G	5: 36,642,591 (GRCm39)	K199R	probably benign	Het
Cdh10	G	A	15: 18,986,965 (GRCm39)	V399I	probably benign	Het
Cenpk	A	G	13: 104,370,733 (GRCm39)	T85A	probably benign	Het
Col6a2	A	C	10: 76,450,751 (GRCm39)	V60G	possibly damaging	Het
Cops7b	A	G	1: 86,526,753 (GRCm39)	D119G	probably benign	Het
Cstf2t	A	G	19: 31,061,676 (GRCm39)	E404G	possibly damaging	Het
Ctnna2	A	T	6: 77,630,052 (GRCm39)	V134E	probably damaging	Het
Cwh43	A	C	5: 73,574,085 (GRCm39)	M250L	probably benign	Het
Daam2	T	A	17: 49,776,449 (GRCm39)	K813*	probably null	Het
Dhcr24	G	A	4: 106,443,733 (GRCm39)		probably benign	Het
Dnah8	G	T	17: 30,920,955 (GRCm39)	R1182L	probably benign	Het
Doc2a	C	T	7: 126,447,830 (GRCm39)	P25S	probably damaging	Het
Dst	A	G	1: 34,317,116 (GRCm39)	S6823G	possibly damaging	Het
Espl1	T	A	15: 102,212,421 (GRCm39)	L509*	probably null	Het
Fbxw19	C	T	9: 109,315,134 (GRCm39)	V143I	probably benign	Het
Fbxw5	A	G	2: 25,394,538 (GRCm39)	T171A	possibly damaging	Het
Gfra2	C	T	14: 71,133,521 (GRCm39)	T117M	probably damaging	Het
Gm454	T	A	5: 138,202,403 (GRCm39)		noncoding transcript	Het
Ilrun	A	C	17: 28,005,207 (GRCm39)	Y117D	probably damaging	Het
Kcnq4	A	G	4: 120,574,705 (GRCm39)	S120P	probably damaging	Het
Krt84	A	T	15: 101,437,155 (GRCm39)	L336Q	probably damaging	Het
Lilra6	T	A	7: 3,917,774 (GRCm39)		probably benign	Het
Mbnl2	G	A	14: 120,562,736 (GRCm39)	R29H	probably damaging	Het
Mcm3ap	G	A	10: 76,338,539 (GRCm39)	G1389D	probably benign	Het
Mettl13	A	T	1: 162,371,954 (GRCm39)	I305N	probably damaging	Het
Muc6	A	G	7: 141,238,548 (GRCm39)	S30P	probably benign	Het
Myh7	T	A	14: 55,216,646 (GRCm39)	Q1237L	probably benign	Het
Myo9a	T	G	9: 59,802,619 (GRCm39)	D2035E	probably damaging	Het
Nat10	A	G	2: 103,578,572 (GRCm39)	S211P	probably damaging	Het
Ntm	T	C	9: 29,090,395 (GRCm39)	Y108C	probably damaging	Het
Or14c39	T	C	7: 86,344,434 (GRCm39)	Y257H	possibly damaging	Het
Or7g25	A	T	9: 19,160,248 (GRCm39)	L149*	probably null	Het
Pcdhb16	A	G	18: 37,613,422 (GRCm39)	D794G	probably benign	Het
Phlpp1	A	G	1: 106,267,345 (GRCm39)	T753A	probably benign	Het
Pierce1	T	C	2: 28,356,036 (GRCm39)		probably benign	Het
Pnldc1	T	C	17: 13,108,963 (GRCm39)	Q511R	possibly damaging	Het
Ppip5k2	A	G	1: 97,689,152 (GRCm39)	S38P	possibly damaging	Het
Pygb	A	G	2: 150,665,904 (GRCm39)	K593E	probably benign	Het
Rangap1	A	T	15: 81,589,664 (GRCm39)	F564I	probably damaging	Het
Rnase12	A	T	14: 51,294,613 (GRCm39)	V22D	probably benign	Het
Rpl7l1	T	A	17: 47,091,324 (GRCm39)	M93L	probably benign	Het
Smg1	T	C	7: 117,776,103 (GRCm39)	R1396G	possibly damaging	Het
Snx19	C	A	9: 30,347,133 (GRCm39)	T692N	probably damaging	Het
Spag6	A	G	2: 18,715,404 (GRCm39)	D61G	probably benign	Het
Spen	T	A	4: 141,206,647 (GRCm39)	N660I	unknown	Het
Sptan1	T	G	2: 29,918,684 (GRCm39)	C2246G	probably null	Het
Svopl	A	G	6: 38,013,642 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,928,078 (GRCm39)	N108K	probably benign	Het
Thbs4	T	C	13: 92,893,079 (GRCm39)	D703G	probably damaging	Het
Tle6	G	T	10: 81,434,457 (GRCm39)	N47K	possibly damaging	Het
Usp48	G	T	4: 137,343,722 (GRCm39)	V452L	probably benign	Het
Ust	A	T	10: 8,173,912 (GRCm39)	S198T	probably damaging	Het
Wnk2	T	A	13: 49,248,894 (GRCm39)	M386L	possibly damaging	Het
Ywhaq	T	C	12: 21,441,382 (GRCm39)		probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp316	A	G	5: 143,238,993 (GRCm39)	S1009P	probably damaging	Het
Zfp963	A	G	8: 70,197,156 (GRCm39)	Y29H	probably damaging	Het
Zmym4	A	G	4: 126,776,112 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 128,019,607 (GRCm39)	I45T	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
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
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'- ACTTAGCAGCCACTGCTTGAAAGG -3'
(R):5'- TTAGGTCGTCAAAGATCCTCAATGCC -3'

Sequencing Primer
(F):5'- TGCAGCCCTGAACTGTTT -3'
(R):5'- gtggaagagatgtaaggagagtg -3'

Posted On

2013-05-23