Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Rictor'

644013

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

067725-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6737860-6829882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6775043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 125 (V125E)

Ref Sequence

ENSEMBL: ENSMUSP00000051809 (fasta)

Gene Model

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

AlphaFold

Q6QI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000061656
AA Change: V125E

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

SMART Domains

Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: V125E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,395 (GRCm39)	S753P	probably damaging	Het
Acan	A	G	7: 78,740,804 (GRCm39)	E390G	probably damaging	Het
Antxr2	T	C	5: 98,086,368 (GRCm39)	N413S	probably damaging	Het
Bace2	C	T	16: 97,158,108 (GRCm39)	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,613,526 (GRCm39)	R79*	probably null	Het
Cdan1	A	G	2: 120,557,806 (GRCm39)	V507A	probably benign	Het
Cdkl3	T	A	11: 51,913,706 (GRCm39)		probably null	Het
Chst5	A	T	8: 112,617,140 (GRCm39)	L160Q	probably benign	Het
Col11a1	C	G	3: 113,958,059 (GRCm39)	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,632,853 (GRCm39)	E1470D	probably benign	Het
Cpped1	T	A	16: 11,623,340 (GRCm39)	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,621,735 (GRCm39)	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,878,502 (GRCm39)	S15P	probably benign	Het
Ddx46	T	C	13: 55,811,727 (GRCm39)	S643P	probably damaging	Het
Defb34	A	G	8: 19,173,814 (GRCm39)	Q16R	probably null	Het
Dhrs2	T	A	14: 55,476,221 (GRCm39)	V147E	probably damaging	Het
Dnah5	G	T	15: 28,347,011 (GRCm39)	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,781,901 (GRCm39)	I93F	probably benign	Het
Eef1e1	T	A	13: 38,839,045 (GRCm39)	D104V	probably damaging	Het
Egfr	A	G	11: 16,808,971 (GRCm39)	Y55C	probably damaging	Het
Egfr	A	C	11: 16,858,885 (GRCm39)	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,770,026 (GRCm39)	V426F	possibly damaging	Het
Elp1	C	T	4: 56,772,491 (GRCm39)	E877K	probably damaging	Het
Fam234a	C	T	17: 26,437,672 (GRCm39)	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688 (GRCm39)	M590K	probably damaging	Het
Gm13287	T	C	4: 88,721,875 (GRCm39)	S129P	probably damaging	Het
Heatr5b	A	G	17: 79,062,793 (GRCm39)	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Itpr2	T	C	6: 146,229,896 (GRCm39)	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,254,219 (GRCm39)	L186P	probably damaging	Het
Krt72	T	A	15: 101,690,580 (GRCm39)	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,427,275 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,079,506 (GRCm39)	T914A	probably benign	Het
Lrrtm4	A	G	6: 79,998,974 (GRCm39)	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636 (GRCm39)	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,306,956 (GRCm39)	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,743,212 (GRCm39)	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,336,114 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,673,117 (GRCm39)		probably null	Het
Myo1d	T	A	11: 80,448,347 (GRCm39)	D926V	probably damaging	Het
Ncapg	T	G	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,189,570 (GRCm39)	S212P	probably benign	Het
Or52p1	G	A	7: 104,267,321 (GRCm39)	R145H	probably benign	Het
Pak2	T	C	16: 31,871,029 (GRCm39)	N51S	probably benign	Het
Papln	T	C	12: 83,833,393 (GRCm39)	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,170,426 (GRCm39)	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,818 (GRCm39)	E990G	probably damaging	Het
Peak1	A	T	9: 56,114,760 (GRCm39)	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,534,771 (GRCm39)	N285D	probably benign	Het
Pramel13	A	C	4: 144,122,427 (GRCm39)	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,375,960 (GRCm39)	S897P	possibly damaging	Het
Rad51	A	G	2: 118,954,312 (GRCm39)	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,290,738 (GRCm39)	T255S	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rps6ka5	C	T	12: 100,524,746 (GRCm39)	D664N	possibly damaging	Het
Rreb1	T	A	13: 38,131,597 (GRCm39)	W1584R	probably damaging	Het
Rxra	T	C	2: 27,631,195 (GRCm39)	I142T	probably damaging	Het
Sall2	T	C	14: 52,550,343 (GRCm39)	T951A	probably benign	Het
Slc15a2	T	G	16: 36,579,669 (GRCm39)	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,314,373 (GRCm39)	*603Q	probably null	Het
Sptb	T	C	12: 76,665,936 (GRCm39)	D894G	possibly damaging	Het
Srgn	A	G	10: 62,343,444 (GRCm39)	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,733,205 (GRCm39)		probably null	Het
Trav9n-4	T	C	14: 53,532,403 (GRCm39)	F86L	probably benign	Het
Trp63	A	G	16: 25,695,484 (GRCm39)	Y482C	unknown	Het
Ttc9b	G	T	7: 27,353,394 (GRCm39)	A15S	probably damaging	Het
Urb1	A	T	16: 90,588,078 (GRCm39)	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,214,727 (GRCm39)	K237*	probably null	Het
Wwox	G	A	8: 115,215,745 (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
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
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'- GTCCCAAGCATTTCACATGGG -3'
(R):5'- TGCTTGAAAGTATAAAGGGAGTCC -3'

Sequencing Primer
(F):5'- CAAAGTAACCTCTGCTGAACTGTGG -3'
(R):5'- GGAGTCCCTCCTTTGCTAAAAAC -3'

Posted On

2020-09-02