Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Rictor'

193879

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

039786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6737860-6829882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6764849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 34 (P34H)

Ref Sequence

ENSEMBL: ENSMUSP00000051809 (fasta)

Gene Model

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

AlphaFold

Q6QI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000061656
AA Change: P34H

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

SMART Domains

Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: P34H

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: ENSMUST00000226181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228918

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,324,345 (GRCm39)	L234M	probably benign	Het
Abca3	G	A	17: 24,596,753 (GRCm39)	S402N	probably benign	Het
Acad12	A	T	5: 121,745,544 (GRCm39)	V249D	probably benign	Het
Acp4	T	C	7: 43,904,428 (GRCm39)	I212V	probably benign	Het
Actl6a	T	A	3: 32,772,723 (GRCm39)	V233D	probably damaging	Het
Aire	T	A	10: 77,866,124 (GRCm39)	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 4,018,517 (GRCm39)	S411P	probably benign	Het
Amer2	A	G	14: 60,617,206 (GRCm39)	K467R	probably damaging	Het
Apol9b	A	T	15: 77,619,962 (GRCm39)	I253F	probably benign	Het
Arid1b	A	G	17: 5,329,476 (GRCm39)		probably null	Het
Atp6v0a4	T	C	6: 38,044,764 (GRCm39)	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,554,613 (GRCm39)	D106G	probably benign	Het
Avpr1b	T	C	1: 131,527,839 (GRCm39)	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,114,724 (GRCm39)	E689A	probably damaging	Het
Brpf3	T	G	17: 29,040,297 (GRCm39)	L906R	probably benign	Het
Btn1a1	T	C	13: 23,644,638 (GRCm39)	K287E	probably benign	Het
Cacna1i	A	G	15: 80,255,730 (GRCm39)	H871R	probably damaging	Het
Cd14	A	T	18: 36,858,567 (GRCm39)	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	G	T	8: 72,075,823 (GRCm39)	W490L	probably damaging	Het
Ctnna2	A	G	6: 77,613,732 (GRCm39)	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,543,344 (GRCm39)	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,601,059 (GRCm39)		probably null	Het
Egfem1	T	C	3: 29,722,482 (GRCm39)	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,353,230 (GRCm39)	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,708,169 (GRCm39)		probably null	Het
Fam243	A	G	16: 92,117,919 (GRCm39)	V123A	probably damaging	Het
Fcho1	A	G	8: 72,163,890 (GRCm39)	I580T	probably benign	Het
Fgfr1	A	G	8: 26,060,226 (GRCm39)	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906 (GRCm39)	R202G	probably damaging	Het
Gabra6	A	G	11: 42,207,388 (GRCm39)	V231A	probably damaging	Het
Gmeb1	A	G	4: 131,959,338 (GRCm39)	S239P	probably benign	Het
Gnpat	T	A	8: 125,603,745 (GRCm39)	Y208N	probably damaging	Het
Il21	T	C	3: 37,279,674 (GRCm39)	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,206,162 (GRCm39)	D35G	possibly damaging	Het
Inpp4b	A	T	8: 82,497,440 (GRCm39)	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,663 (GRCm39)	I342T	possibly damaging	Het
Ky	A	T	9: 102,419,126 (GRCm39)	T378S	possibly damaging	Het
Lcat	CAT	C	8: 106,668,446 (GRCm39)		probably null	Het
Lrrc8d	T	C	5: 105,960,523 (GRCm39)	V311A	probably benign	Het
Mief1	A	G	15: 80,133,803 (GRCm39)	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,784,233 (GRCm39)	V179A	probably benign	Het
Mtcl1	T	C	17: 66,687,178 (GRCm39)	K576R	probably damaging	Het
Myh10	C	A	11: 68,703,884 (GRCm39)	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,449,228 (GRCm39)	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,044,963 (GRCm39)	Y132H	probably damaging	Het
Oit3	T	C	10: 59,263,762 (GRCm39)		probably null	Het
Or12j4	A	T	7: 140,046,773 (GRCm39)	I220F	probably damaging	Het
Or2z2	A	T	11: 58,346,088 (GRCm39)	M229K	probably damaging	Het
Or4c100	A	T	2: 88,356,159 (GRCm39)	R77S	probably damaging	Het
Or5b113	T	C	19: 13,342,717 (GRCm39)	S242P	probably damaging	Het
Or5h25	T	A	16: 58,930,944 (GRCm39)	I10F	probably benign	Het
Or6k14	A	G	1: 173,927,599 (GRCm39)	T192A	probably benign	Het
Or7a42	T	A	10: 78,791,531 (GRCm39)	V164E	probably damaging	Het
Or9k2	G	A	10: 129,999,033 (GRCm39)	T54I	probably benign	Het
Pdlim4	T	C	11: 53,946,699 (GRCm39)	E196G	possibly damaging	Het
Pigs	A	G	11: 78,228,673 (GRCm39)	Y293C	probably damaging	Het
Pkd1l2	A	T	8: 117,757,458 (GRCm39)	S1527T	possibly damaging	Het
Pkd2l1	A	T	19: 44,144,040 (GRCm39)	Y344*	probably null	Het
Pmp2	T	C	3: 10,247,284 (GRCm39)		probably null	Het
Polr3e	T	C	7: 120,538,521 (GRCm39)		probably null	Het
Ppp3ca	C	G	3: 136,587,209 (GRCm39)	I230M	probably benign	Het
Ppp5c	T	C	7: 16,739,235 (GRCm39)	H463R	probably benign	Het
Ptger1	A	G	8: 84,395,926 (GRCm39)	N328D	probably benign	Het
Rhno1	A	T	6: 128,334,822 (GRCm39)	I167N	probably benign	Het
Rnf10	A	C	5: 115,383,924 (GRCm39)	S630R	probably damaging	Het
Rnf168	A	G	16: 32,117,942 (GRCm39)	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634 (GRCm39)		probably null	Het
Samd9l	G	T	6: 3,373,126 (GRCm39)	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,409,872 (GRCm39)	M864K	probably benign	Het
Slitrk5	T	C	14: 111,917,951 (GRCm39)	F525S	probably damaging	Het
Sox6	T	C	7: 115,076,290 (GRCm39)	M784V	probably benign	Het
Spata31e4	A	T	13: 50,855,123 (GRCm39)	T254S	probably damaging	Het
Spint2	C	T	7: 28,959,791 (GRCm39)		probably null	Het
Ssh1	A	T	5: 114,093,906 (GRCm39)	I276N	probably damaging	Het
Trank1	T	A	9: 111,221,939 (GRCm39)	V2892D	probably benign	Het
Ttn	C	A	2: 76,581,384 (GRCm39)	E21424*	probably null	Het
Usp17lc	T	C	7: 103,068,055 (GRCm39)	I450T	probably benign	Het
Vcan	A	G	13: 89,852,854 (GRCm39)	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,693,517 (GRCm39)		probably null	Het
Vmn2r51	G	T	7: 9,833,873 (GRCm39)	D388E	probably benign	Het
Zfp106	A	C	2: 120,364,245 (GRCm39)	S721A	probably damaging	Het
Zfp106	G	A	2: 120,364,244 (GRCm39)	S721L	probably damaging	Het
Zfp189	T	A	4: 49,529,342 (GRCm39)	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,112,046 (GRCm39)	Y62F	probably benign	Het
Zfp839	T	C	12: 110,821,891 (GRCm39)	V235A	probably damaging	Het
Zfp871	T	C	17: 32,994,308 (GRCm39)	Y289C	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
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
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'- TTGAACTCTGAAGGCAGCCAGC -3'
(R):5'- ACTGGATTACAGTGGCTTGCTTCTG -3'

Sequencing Primer
(F):5'- GGAGAAGGCTTACGCTGTAAACT -3'
(R):5'- acatagcaacattcctcagaaac -3'

Posted On

2014-05-23