Mutagenetix > Incidental Mutation

Incidental Mutation 'R5169:Rragc'

397431

Institutional Source

Beutler Lab

Gene Symbol

Rragc

Ensembl Gene

ENSMUSG00000028646

Gene Name

Ras-related GTP binding C

Synonyms

YGR163W, TIB929, Gtr2

MMRRC Submission

042749-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R5169 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

123811239-123830790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123829457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 391 (N391S)

Ref Sequence

ENSEMBL: ENSMUSP00000030399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030399] [ENSMUST00000155757]

AlphaFold

Q99K70

Predicted Effect

probably damaging
Transcript: ENSMUST00000030399
AA Change: N391S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030399
Gene: ENSMUSG00000028646
AA Change: N391S

Domain	Start	End	E-Value	Type
Pfam:Arf	55	234	5.1e-7	PFAM
Pfam:SRPRB	58	154	9.8e-7	PFAM
Pfam:Gtr1_RagA	62	288	2.1e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155454

Predicted Effect

probably benign
Transcript: ENSMUST00000155757

SMART Domains

Protein: ENSMUSP00000115232
Gene: ENSMUSG00000028646

Domain	Start	End	E-Value	Type
Pfam:Arf	55	157	1.7e-6	PFAM
Pfam:SRPRB	58	156	6.3e-8	PFAM
Pfam:Gtr1_RagA	62	178	1.5e-30	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,841,552 (GRCm39)	Y964*	probably null	Het
Acsbg2	T	C	17: 57,156,913 (GRCm39)	K375R	probably benign	Het
Ago4	C	A	4: 126,405,520 (GRCm39)	R415L	probably benign	Het
Alpk1	A	T	3: 127,464,750 (GRCm39)	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,440,252 (GRCm39)	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,980,051 (GRCm39)	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,052,413 (GRCm39)	M299L	probably benign	Het
Ddx54	C	A	5: 120,761,328 (GRCm39)	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,102,994 (GRCm39)	Y1102H	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dop1a	T	C	9: 86,415,074 (GRCm39)	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ints7	T	C	1: 191,345,202 (GRCm39)	F631L	probably benign	Het
Itih1	A	T	14: 30,655,403 (GRCm39)	Y597*	probably null	Het
Kctd1	T	C	18: 15,195,822 (GRCm39)	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,284,329 (GRCm39)	T185A	probably benign	Het
Maco1	T	C	4: 134,555,774 (GRCm39)	H233R	probably benign	Het
Masp2	T	C	4: 148,690,571 (GRCm39)	I276T	probably damaging	Het
Med17	A	T	9: 15,188,900 (GRCm39)	F122I	probably benign	Het
Milr1	C	T	11: 106,645,754 (GRCm39)	R99*	probably null	Het
Mpp4	T	C	1: 59,169,256 (GRCm39)		probably null	Het
Ms4a4d	C	T	19: 11,535,340 (GRCm39)	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,650,818 (GRCm39)	N1100S	probably benign	Het
Myom3	T	C	4: 135,502,889 (GRCm39)	I322T	probably benign	Het
Nav2	C	T	7: 49,198,231 (GRCm39)	Q1287*	probably null	Het
Nr3c2	A	T	8: 77,635,666 (GRCm39)	N256Y	probably damaging	Het
Nrde2	A	G	12: 100,095,552 (GRCm39)		probably null	Het
Otog	G	T	7: 45,947,572 (GRCm39)	A2242S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,710,415 (GRCm39)	D300G	possibly damaging	Het
Pcdh8	G	A	14: 80,005,095 (GRCm39)	P880S	probably benign	Het
Pcid2	A	G	8: 13,129,632 (GRCm39)		probably null	Het
Phkb	A	G	8: 86,623,120 (GRCm39)	H148R	probably benign	Het
Pik3r4	T	C	9: 105,555,360 (GRCm39)	S1106P	probably benign	Het
Pnpla7	A	T	2: 24,940,321 (GRCm39)	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,814,930 (GRCm39)	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,223,196 (GRCm39)	A267V	probably damaging	Het
Psg29	C	T	7: 16,945,578 (GRCm39)	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,295,324 (GRCm39)	F231I	probably damaging	Het
Rpl14	T	A	9: 120,401,254 (GRCm39)	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,783,949 (GRCm39)	N92K	probably benign	Het
Ryr3	C	T	2: 112,501,005 (GRCm39)	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,286,126 (GRCm39)	M508V	probably benign	Het
Shoc1	T	A	4: 59,059,618 (GRCm39)	Y1014F	possibly damaging	Het
Slc24a3	G	A	2: 145,482,184 (GRCm39)	C614Y	probably benign	Het
Spata31d1b	T	C	13: 59,864,309 (GRCm39)	S486P	probably damaging	Het
Spi1	A	T	2: 90,945,428 (GRCm39)	K170*	probably null	Het
Srgn	C	A	10: 62,330,866 (GRCm39)	D80Y	probably damaging	Het
St6galnac6	A	G	2: 32,504,857 (GRCm39)	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,982,945 (GRCm39)	K134*	probably null	Het
Szt2	T	C	4: 118,247,027 (GRCm39)	T863A	probably benign	Het
Tcea3	A	T	4: 135,992,181 (GRCm39)		probably null	Het
Tg	T	A	15: 66,550,629 (GRCm39)	L253*	probably null	Het
Timm8a2	T	A	14: 122,272,138 (GRCm39)	S14T	probably benign	Het
Tppp3	G	C	8: 106,194,501 (GRCm39)	N166K	probably benign	Het
Trav2	G	A	14: 52,804,759 (GRCm39)	V4M	probably benign	Het
Trmt5	T	C	12: 73,329,495 (GRCm39)	D221G	probably damaging	Het
Ttc27	T	A	17: 75,054,690 (GRCm39)	L332*	probably null	Het
V1rd19	A	G	7: 23,703,209 (GRCm39)	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,274,184 (GRCm39)	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,657,515 (GRCm39)	N185I	probably benign	Het
Zmpste24	A	T	4: 120,925,914 (GRCm39)	I351N	probably damaging	Het

Other mutations in Rragc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Rragc	APN	4	123,813,636 (GRCm39)	unclassified	probably benign
IGL01067:Rragc	APN	4	123,823,761 (GRCm39)	missense	probably benign	0.12
IGL01843:Rragc	APN	4	123,814,852 (GRCm39)	missense	probably damaging	1.00
IGL02302:Rragc	APN	4	123,814,879 (GRCm39)	missense	possibly damaging	0.65
IGL02368:Rragc	APN	4	123,814,904 (GRCm39)	missense	probably benign	0.11
R0740:Rragc	UTSW	4	123,818,556 (GRCm39)	missense	probably damaging	1.00
R0988:Rragc	UTSW	4	123,818,575 (GRCm39)	splice site	probably null
R4620:Rragc	UTSW	4	123,818,622 (GRCm39)	missense	probably damaging	0.98
R5727:Rragc	UTSW	4	123,813,828 (GRCm39)	missense	possibly damaging	0.66
R5729:Rragc	UTSW	4	123,818,645 (GRCm39)	missense	possibly damaging	0.60
R5959:Rragc	UTSW	4	123,817,767 (GRCm39)	missense	probably damaging	1.00
R6197:Rragc	UTSW	4	123,811,340 (GRCm39)	missense	possibly damaging	0.90
R7860:Rragc	UTSW	4	123,823,717 (GRCm39)	missense	probably damaging	0.99
R8008:Rragc	UTSW	4	123,829,340 (GRCm39)	missense	probably damaging	0.96
R9748:Rragc	UTSW	4	123,818,658 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- ACAGTGATTGATTGCAGTGTGAAG -3'
(R):5'- AGCTTCAGTTGCACACAGC -3'

Sequencing Primer
(F):5'- GAGGGGAGCTTCACAGTTG -3'
(R):5'- TGCACACAGCCGGCTGAG -3'

Posted On

2016-07-06