Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Rictor'

729244

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9695 (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 G at 6816010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1094 (V1094G)

Ref Sequence

ENSEMBL: ENSMUSP00000051809 (fasta)

Gene Model

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

AlphaFold

Q6QI06

Predicted Effect

probably benign
Transcript: ENSMUST00000061656
AA Change: V1094G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: V1094G

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: 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,170,739 (GRCm39)	T1A		Het
Adgrl1	G	A	8: 84,665,060 (GRCm39)	R1249Q	probably damaging	Het
Apeh	G	A	9: 107,963,483 (GRCm39)	R580C	probably damaging	Het
Armc12	T	A	17: 28,749,993 (GRCm39)	C46S	probably benign	Het
Avpr1a	C	T	10: 122,284,845 (GRCm39)	R46C	probably damaging	Het
Cbln4	C	G	2: 171,879,469 (GRCm39)	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,076,552 (GRCm39)	N254S	probably benign	Het
Cd96	T	A	16: 45,919,410 (GRCm39)	I204F	probably damaging	Het
Cel	G	T	2: 28,450,961 (GRCm39)	L101I	probably damaging	Het
Crtap	A	T	9: 114,215,378 (GRCm39)	Y170*	probably null	Het
Ctxn3	A	G	18: 57,610,185 (GRCm39)	M1V	probably null	Het
Cwf19l1	G	T	19: 44,101,425 (GRCm39)	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,571,192 (GRCm39)	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,532,389 (GRCm39)	T478A	probably damaging	Het
Dvl2	G	A	11: 69,899,976 (GRCm39)	R590Q	possibly damaging	Het
Elovl7	C	A	13: 108,416,242 (GRCm39)	Q211K	probably damaging	Het
Fech	A	G	18: 64,600,803 (GRCm39)	I233T	probably damaging	Het
Fsip2	A	T	2: 82,806,226 (GRCm39)	Q848H	probably benign	Het
Gna15	A	G	10: 81,359,752 (GRCm39)	C13R	probably damaging	Het
Gstt4	A	T	10: 75,657,072 (GRCm39)	S65T	probably benign	Het
Heatr1	T	C	13: 12,438,624 (GRCm39)	V1353A	probably damaging	Het
Hip1r	A	T	5: 124,139,916 (GRCm39)	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,265,701 (GRCm39)	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,301,249 (GRCm39)	T810A	unknown	Het
Ighv1-69	T	C	12: 115,586,987 (GRCm39)	T49A	probably benign	Het
Il4i1	A	T	7: 44,489,033 (GRCm39)	D266V	probably damaging	Het
Itga3	A	T	11: 94,946,520 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,378,311 (GRCm39)	N1279S	probably damaging	Het
Madd	T	C	2: 90,992,929 (GRCm39)	T997A	probably benign	Het
Mal	C	T	2: 127,482,308 (GRCm39)	V32I	probably benign	Het
Map9	T	A	3: 82,284,292 (GRCm39)	S289T	probably benign	Het
Mmp15	G	T	8: 96,097,414 (GRCm39)	R461L	possibly damaging	Het
Nelfcd	T	A	2: 174,266,923 (GRCm39)	I395N	probably benign	Het
Neurog2	T	A	3: 127,427,694 (GRCm39)	V106E	probably damaging	Het
Nup160	T	A	2: 90,538,486 (GRCm39)	N761K	probably damaging	Het
Oasl1	G	A	5: 115,074,054 (GRCm39)	R321Q	probably damaging	Het
Oosp2	T	C	19: 11,628,994 (GRCm39)	T36A		Het
Or2a52	A	T	6: 43,144,510 (GRCm39)	I173L	probably benign	Het
Or7g22	A	G	9: 19,049,171 (GRCm39)	N294S	probably damaging	Het
Or8k30	T	C	2: 86,339,100 (GRCm39)	V99A	probably benign	Het
Or9s27	A	G	1: 92,516,595 (GRCm39)	D181G	probably benign	Het
Otx2	T	G	14: 48,899,952 (GRCm39)	S16R	probably damaging	Het
Phactr2	A	G	10: 13,349,908 (GRCm39)	S39P	unknown	Het
Piwil2	A	G	14: 70,627,349 (GRCm39)	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,183,056 (GRCm39)	Y949S	probably benign	Het
Prss35	A	G	9: 86,637,761 (GRCm39)	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,335,986 (GRCm39)	I934T	probably damaging	Het
Riok1	A	G	13: 38,242,676 (GRCm39)	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,694,400 (GRCm39)	R12W	possibly damaging	Het
Slc44a5	T	A	3: 153,956,588 (GRCm39)	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,368,026 (GRCm39)	L205S	probably benign	Het
Slco2a1	A	G	9: 102,962,139 (GRCm39)	R604G	possibly damaging	Het
Slmap	T	A	14: 26,183,496 (GRCm39)	T296S	probably damaging	Het
Snrk	T	C	9: 121,995,640 (GRCm39)	V473A	probably benign	Het
Spart	A	G	3: 55,033,955 (GRCm39)	T394A	probably benign	Het
Stil	T	C	4: 114,881,378 (GRCm39)	S641P	probably damaging	Het
Syne1	A	G	10: 5,268,461 (GRCm39)	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,952,360 (GRCm39)	A336V	probably null	Het
Tespa1	T	C	10: 130,198,285 (GRCm39)	S436P	probably benign	Het
Thumpd3	G	T	6: 113,024,622 (GRCm39)	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Vars1	A	G	17: 35,231,564 (GRCm39)	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,422,975 (GRCm39)	H991L	probably benign	Het
Zfp160	A	G	17: 21,245,746 (GRCm39)	K99E	possibly damaging	Het
Zfp759	G	A	13: 67,287,198 (GRCm39)	V250I	possibly damaging	Het
Zmym6	T	C	4: 127,016,340 (GRCm39)	V707A	probably benign	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
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
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'- AGCCCATTGTTGACTTGCAGG -3'
(R):5'- TTCAAGGTGCTTATTCCCAACG -3'

Sequencing Primer
(F):5'- ACTTGCAGGCATGTTCATGC -3'
(R):5'- TTATTCCCAACGAAGGAAGGCTCTAG -3'

Posted On

2022-10-06