Mutagenetix > Incidental Mutation

Incidental Mutation 'R0149:Rictor'

22752

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

038433-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0149 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

6737860-6829882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6813588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1025 (N1025D)

Ref Sequence

ENSEMBL: ENSMUSP00000051809 (fasta)

Gene Model

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

AlphaFold

Q6QI06

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061656
AA Change: N1025D

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: N1025D

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

0.0719

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (84/87)

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
A230072I06Rik	A	C	8: 12,330,000 (GRCm39)	S152R	unknown	Het
Acsbg2	A	G	17: 57,160,924 (GRCm39)		probably benign	Het
Adam6a	G	T	12: 113,509,369 (GRCm39)	V581F	probably damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Aldh1l1	A	G	6: 90,566,396 (GRCm39)	K656E	possibly damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Api5	A	T	2: 94,253,842 (GRCm39)	L287*	probably null	Het
Ascc3	A	T	10: 50,484,089 (GRCm39)	N55I	probably benign	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Clk1	T	A	1: 58,453,760 (GRCm39)	N305Y	probably damaging	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Cyp2d26	A	G	15: 82,676,968 (GRCm39)	L152P	probably damaging	Het
Dmtf1	A	G	5: 9,182,571 (GRCm39)	S188P	probably damaging	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dscaml1	T	G	9: 45,653,978 (GRCm39)	Y1418*	probably null	Het
Efemp2	A	T	19: 5,527,988 (GRCm39)	H107L	probably damaging	Het
Eng	T	C	2: 32,562,397 (GRCm39)		probably null	Het
Erc1	A	T	6: 119,801,791 (GRCm39)	S75R	probably damaging	Het
Fgl2	A	T	5: 21,580,783 (GRCm39)	D375V	probably damaging	Het
Fpr-rs6	T	C	17: 20,402,475 (GRCm39)	I295M	probably benign	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
Gmcl1	A	T	6: 86,709,891 (GRCm39)		probably null	Het
Has1	T	C	17: 18,070,433 (GRCm39)	T163A	probably damaging	Het
Hmcn1	A	T	1: 150,553,075 (GRCm39)	N2538K	probably benign	Het
Itga2	A	G	13: 114,973,115 (GRCm39)		probably benign	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kcnk4	T	C	19: 6,903,562 (GRCm39)	E329G	probably benign	Het
Kcnt1	T	C	2: 25,788,276 (GRCm39)		probably benign	Het
Klkb1	A	G	8: 45,729,100 (GRCm39)	C375R	probably damaging	Het
Loxl2	C	A	14: 69,930,527 (GRCm39)	H764N	probably benign	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Magi1	A	T	6: 93,724,226 (GRCm39)	I263N	probably damaging	Het
Map4	C	T	9: 109,896,692 (GRCm39)	P641L	probably damaging	Het
Mars1	A	T	10: 127,135,903 (GRCm39)	N558K	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mgat5b	A	G	11: 116,875,965 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,300,153 (GRCm39)	V1627D	probably benign	Het
Mtnr1a	A	T	8: 45,522,352 (GRCm39)	I36F	probably benign	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Ngf	T	A	3: 102,427,762 (GRCm39)	H174Q	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Or8g21	T	A	9: 38,905,880 (GRCm39)	M284L	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
P4ha1	A	G	10: 59,184,221 (GRCm39)	T228A	probably damaging	Het
Pip5kl1	T	C	2: 32,468,966 (GRCm39)	V195A	possibly damaging	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plxna1	T	C	6: 89,297,595 (GRCm39)	E1863G	probably null	Het
Prdm10	T	G	9: 31,227,455 (GRCm39)		probably benign	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Rgs1	T	C	1: 144,124,825 (GRCm39)		probably benign	Het
Rgsl1	A	G	1: 153,669,510 (GRCm39)	F292S	probably damaging	Het
Rhobtb2	T	C	14: 70,033,357 (GRCm39)	T538A	probably benign	Het
Rsph10b	T	A	5: 143,875,727 (GRCm39)		probably benign	Het
Rwdd4a	A	G	8: 47,997,255 (GRCm39)	D158G	probably null	Het
Sdk1	T	C	5: 141,842,809 (GRCm39)		probably benign	Het
Serpina3n	A	C	12: 104,377,635 (GRCm39)	K296T	probably benign	Het
Slco1a8	T	C	6: 141,938,203 (GRCm39)	T239A	probably benign	Het
Snw1	A	G	12: 87,508,687 (GRCm39)	V124A	possibly damaging	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Tmc6	G	A	11: 117,660,274 (GRCm39)	L655F	probably damaging	Het
Tmem260	A	T	14: 48,689,504 (GRCm39)	T108S	possibly damaging	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Tsc1	T	C	2: 28,560,913 (GRCm39)	I257T	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Unc80	T	A	1: 66,560,760 (GRCm39)	N829K	possibly damaging	Het
Vmn1r235	A	C	17: 21,482,257 (GRCm39)	D194A	probably damaging	Het
Vmn2r100	A	T	17: 19,741,509 (GRCm39)		probably null	Het
Ylpm1	G	T	12: 85,075,612 (GRCm39)	R321L	probably damaging	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	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
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
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'- AGCTAAAACCAAGCAAGGCTGTGAT -3'
(R):5'- AATACCTGTGGCTCCCCACACT -3'

Sequencing Primer
(F):5'- TGTAAGGCACAGTCGCAA -3'
(R):5'- gtcgtctgtatcctagcactc -3'

Posted On

2013-04-16