Mutagenetix > Incidental Mutation

Incidental Mutation 'R8062:Rictor'

619817

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

067498-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8062 (G1)

Quality Score

225.009

Status

Not 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: 99.8%
20x: 99.3%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 80,427,773 (GRCm39)	Y172N	possibly damaging	Het
Abhd2	T	A	7: 78,975,338 (GRCm39)	M176K	possibly damaging	Het
Adamts14	A	G	10: 61,036,140 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,302,609 (GRCm39)		probably null	Het
Bach2	G	A	4: 32,562,937 (GRCm39)	G468E	probably damaging	Het
Bap1	T	A	14: 30,979,465 (GRCm39)	N489K	probably benign	Het
Btaf1	G	A	19: 36,969,865 (GRCm39)	V1180I	probably benign	Het
Calm5	A	G	13: 3,904,405 (GRCm39)	H33R	probably benign	Het
Cby2	A	T	14: 75,830,046 (GRCm39)	I49N	probably benign	Het
Cnr1	T	A	4: 33,944,707 (GRCm39)	V365E	possibly damaging	Het
Crym	A	C	7: 119,800,391 (GRCm39)	V77G	probably damaging	Het
Cyp2j7	T	A	4: 96,103,587 (GRCm39)	E316V	probably null	Het
Dab2	G	A	15: 6,456,822 (GRCm39)	G233D	probably damaging	Het
Ddx19b	A	T	8: 111,747,611 (GRCm39)	S108T	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Duxf1	G	A	10: 58,059,632 (GRCm39)	A374V	unknown	Het
Duxf3	A	C	10: 58,066,750 (GRCm39)	M93R	probably benign	Het
Duxf3	G	A	10: 58,066,889 (GRCm39)	L537F	probably damaging	Het
Eif2s2	A	G	2: 154,719,724 (GRCm39)	F182L	possibly damaging	Het
Erlin1	T	A	19: 44,044,598 (GRCm39)	K156I	probably benign	Het
Gapvd1	A	G	2: 34,568,126 (GRCm39)	S1413P	probably benign	Het
Gm1110	G	A	9: 26,793,117 (GRCm39)	A553V	probably damaging	Het
Gm3250	C	A	10: 77,618,234 (GRCm39)	C48F	unknown	Het
Gm3604	T	C	13: 62,518,155 (GRCm39)	S68G	probably damaging	Het
Golga5	T	A	12: 102,450,739 (GRCm39)	M464K	probably benign	Het
Gpr142	G	A	11: 114,697,357 (GRCm39)	R301Q	probably benign	Het
Gria4	C	T	9: 4,480,273 (GRCm39)	D392N	possibly damaging	Het
Grik2	T	A	10: 49,116,863 (GRCm39)	T633S	probably damaging	Het
Gsap	T	A	5: 21,399,461 (GRCm39)	I54N	probably damaging	Het
Hdlbp	A	G	1: 93,366,064 (GRCm39)	Y40H	probably benign	Het
Hyal5	C	A	6: 24,876,196 (GRCm39)	T23K	possibly damaging	Het
Iqank1	G	A	15: 75,918,603 (GRCm39)	R508H	probably benign	Het
Itga6	T	A	2: 71,672,087 (GRCm39)	F834L	probably benign	Het
Klf1	T	A	8: 85,629,928 (GRCm39)	L251Q	probably benign	Het
Kndc1	A	G	7: 139,498,760 (GRCm39)	D558G	probably benign	Het
Ktn1	T	A	14: 47,962,429 (GRCm39)		probably null	Het
Lcmt2	A	G	2: 120,970,753 (GRCm39)	V110A	possibly damaging	Het
Lgr4	C	T	2: 109,831,282 (GRCm39)	R304C	probably damaging	Het
Lnpk	T	A	2: 74,381,407 (GRCm39)	I119L	possibly damaging	Het
Med13	A	G	11: 86,210,264 (GRCm39)	V626A	probably benign	Het
Mroh9	A	T	1: 162,866,544 (GRCm39)	L700M	probably damaging	Het
Muc4	T	A	16: 32,577,123 (GRCm39)	W138R		Het
Myh2	G	T	11: 67,084,209 (GRCm39)	E1611*	probably null	Het
Myo9b	T	G	8: 71,774,457 (GRCm39)	S323A	probably damaging	Het
Or2n1c	A	T	17: 38,520,065 (GRCm39)	I310F	probably benign	Het
Or4c52	T	A	2: 89,846,080 (GRCm39)	F269I	possibly damaging	Het
Or5t7	A	C	2: 86,507,410 (GRCm39)	V89G	probably benign	Het
Or8b101	G	T	9: 38,020,213 (GRCm39)	C72F	probably damaging	Het
P2ry13	A	T	3: 59,117,703 (GRCm39)	M25K	probably benign	Het
Pan3	T	A	5: 147,463,960 (GRCm39)	F571Y	probably benign	Het
Pdcd11	A	G	19: 47,119,152 (GRCm39)	D1831G	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pex1	T	G	5: 3,655,656 (GRCm39)	M161R	probably benign	Het
Piezo2	T	A	18: 63,163,537 (GRCm39)	D2127V	possibly damaging	Het
Plod3	A	T	5: 137,019,123 (GRCm39)	H336L	possibly damaging	Het
Pp2d1	A	T	17: 53,822,798 (GRCm39)	N89K	probably benign	Het
Ppp4r3a	A	G	12: 101,008,230 (GRCm39)	S736P	probably damaging	Het
Prp2	C	A	6: 132,577,651 (GRCm39)	Q313K	unknown	Het
Psma5	T	G	3: 108,173,795 (GRCm39)	D90E	probably benign	Het
Reln	G	A	5: 22,176,990 (GRCm39)	T1892I	probably benign	Het
Rsf1	T	G	7: 97,326,594 (GRCm39)	D1039E		Het
Rtel1	A	G	2: 180,982,360 (GRCm39)	D370G	probably benign	Het
Scyl2	T	A	10: 89,490,022 (GRCm39)	N447Y	probably damaging	Het
Sis	A	T	3: 72,828,321 (GRCm39)	Y1222*	probably null	Het
Slc37a3	A	T	6: 39,341,530 (GRCm39)	H35Q	probably damaging	Het
Sltm	A	T	9: 70,480,779 (GRCm39)	K210N	unknown	Het
Spata3	T	C	1: 85,952,148 (GRCm39)	I134T	unknown	Het
Speer4d	A	T	5: 15,825,437 (GRCm39)	N54I	possibly damaging	Het
Syne1	A	G	10: 5,135,394 (GRCm39)		probably null	Het
Tars1	A	T	15: 11,388,400 (GRCm39)	F465Y	possibly damaging	Het
Tlr4	T	G	4: 66,758,087 (GRCm39)	N293K	probably benign	Het
Tmprss13	C	A	9: 45,239,986 (GRCm39)	T98K	unknown	Het
Tnfsf8	G	A	4: 63,779,432 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,015,393 (GRCm39)		probably benign	Het
Trpm1	A	G	7: 63,851,689 (GRCm39)	K136E	probably benign	Het
Ttc6	A	G	12: 57,783,764 (GRCm39)	Y1741C	possibly damaging	Het
Usp38	T	C	8: 81,711,218 (GRCm39)	D939G	probably damaging	Het
Vmn1r196	T	A	13: 22,477,440 (GRCm39)	N26K	probably damaging	Het
Vmn2r50	C	A	7: 9,774,240 (GRCm39)		probably null	Het
Wdr3	T	A	3: 100,049,810 (GRCm39)	M773L	probably benign	Het
Zfp993	T	G	4: 146,739,415 (GRCm39)		probably null	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
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
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

2020-01-23