Mutagenetix > Incidental Mutation

Incidental Mutation 'R6549:Rictor'

521463

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

044674-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6549 (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 G at 6825656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 1689 (A1689G)

Ref Sequence

ENSEMBL: ENSMUSP00000051809 (fasta)

Gene Model

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

AlphaFold

Q6QI06

Predicted Effect

probably damaging
Transcript: ENSMUST00000061656
AA Change: A1689G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051809
Gene: ENSMUSG00000050310
AA Change: A1689G

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: 99.3%
20x: 97.7%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	T	C	9: 53,404,477 (GRCm39)	D1288G	probably benign	Het
Atxn7	T	C	14: 14,013,087 (GRCm38)	S2P	probably damaging	Het
C1rl	T	A	6: 124,485,487 (GRCm39)	I286N	probably benign	Het
Ccdc54	T	C	16: 50,410,388 (GRCm39)	R293G	possibly damaging	Het
Cndp1	A	T	18: 84,654,309 (GRCm39)	I85K	probably benign	Het
Col25a1	A	G	3: 129,976,444 (GRCm39)	T110A	probably benign	Het
Defb8	G	T	8: 19,497,560 (GRCm39)	P17Q	probably damaging	Het
Dnah1	A	T	14: 30,991,340 (GRCm39)	L3146Q	probably damaging	Het
Espn	A	T	4: 152,215,525 (GRCm39)	M1K	probably null	Het
Gm9922	C	A	14: 101,966,893 (GRCm39)		probably benign	Het
Hycc2	T	C	1: 58,578,759 (GRCm39)	I264V	probably benign	Het
Ldb3	A	G	14: 34,263,854 (GRCm39)	M545T	probably damaging	Het
Or8k30	A	T	2: 86,339,726 (GRCm39)	I308L	probably benign	Het
Piezo1	G	A	8: 123,227,002 (GRCm39)	H420Y		Het
Primpol	A	T	8: 47,058,185 (GRCm39)	L115I	probably damaging	Het
Pus10	G	A	11: 23,679,075 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,595,018 (GRCm39)	N1956D	probably benign	Het
Scn4a	T	C	11: 106,234,791 (GRCm39)	D384G	probably damaging	Het
Sell	A	G	1: 163,893,198 (GRCm39)	D138G	probably damaging	Het
Slc4a7	T	A	14: 14,748,564 (GRCm38)	F327L	probably damaging	Het
Sox6	A	G	7: 115,085,927 (GRCm39)	I680T	possibly damaging	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Vmn1r31	A	T	6: 58,449,648 (GRCm39)	N72K	possibly damaging	Het
Vmn2r77	A	G	7: 86,450,065 (GRCm39)	I104V	probably benign	Het
Zfp988	G	A	4: 147,416,310 (GRCm39)	C248Y	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
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'- TTTAGACTTCAGTGTCGGCG -3'
(R):5'- TCTGTACCAATAACTGCTGGC -3'

Sequencing Primer
(F):5'- CAGTGTCGGCGGTTCATACAAG -3'
(R):5'- CCAGTGTCAGAAGGCTCTC -3'

Posted On

2018-06-06