Mutagenetix > Incidental Mutation

Incidental Mutation 'R8008:Rragc'

616733

Institutional Source

Beutler Lab

Gene Symbol

Rragc

Ensembl Gene

ENSMUSG00000028646

Gene Name

Ras-related GTP binding C

Synonyms

YGR163W, TIB929, Gtr2

MMRRC Submission

046048-MU

Accession Numbers

Essential gene?

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

Stock #

R8008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123811239-123830790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123829340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 352 (D352G)

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: D352G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030399
Gene: ENSMUSG00000028646
AA Change: D352G

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,429,234 (GRCm39)	I774F	probably benign	Het
Alpi	A	G	1: 87,026,384 (GRCm39)	S536P	unknown	Het
Ankar	A	G	1: 72,705,643 (GRCm39)	V789A	possibly damaging	Het
Atp5f1b	C	A	10: 127,919,277 (GRCm39)	Q28K	unknown	Het
Brpf1	T	C	6: 113,296,050 (GRCm39)	V781A	probably benign	Het
Cd177	G	A	7: 24,451,774 (GRCm39)	S414L	not run	Het
Cimip3	T	A	17: 47,747,661 (GRCm39)	E28V	probably damaging	Het
Clca3b	T	A	3: 144,550,370 (GRCm39)	T192S	probably benign	Het
Coro2a	A	T	4: 46,551,349 (GRCm39)	S119T	probably damaging	Het
Cpped1	T	C	16: 11,646,260 (GRCm39)	N164S	probably damaging	Het
Crybg2	T	A	4: 133,818,415 (GRCm39)	N1390K	probably damaging	Het
Epn2	C	T	11: 61,437,492 (GRCm39)	A27T	probably damaging	Het
Esp34	T	C	17: 38,870,490 (GRCm39)	F128S	possibly damaging	Het
Evpl	T	A	11: 116,121,298 (GRCm39)	N410Y	probably null	Het
Flnb	A	G	14: 7,892,155 (GRCm38)	Y608C	probably damaging	Het
Fpr3	T	C	17: 18,191,715 (GRCm39)	S329P	probably benign	Het
Frem2	T	A	3: 53,560,331 (GRCm39)	N1392I	probably damaging	Het
Garin2	T	A	12: 78,761,817 (GRCm39)	D160E	probably benign	Het
Gpi1	G	T	7: 33,917,726 (GRCm39)	N249K	probably damaging	Het
Gpr87	T	C	3: 59,087,466 (GRCm39)	N13S	probably benign	Het
Gys2	T	C	6: 142,400,243 (GRCm39)	T323A	probably damaging	Het
Iqgap3	T	C	3: 88,016,770 (GRCm39)	I1084T	probably damaging	Het
Lrfn4	C	G	19: 4,663,565 (GRCm39)	G323A	probably benign	Het
Lrrc4c	A	T	2: 97,460,594 (GRCm39)	S407C	possibly damaging	Het
Map3k20	A	T	2: 72,268,613 (GRCm39)	Q540L	probably benign	Het
Myom1	T	C	17: 71,407,057 (GRCm39)	V1158A	probably benign	Het
Ncor2	T	C	5: 125,144,983 (GRCm39)	D378G	unknown	Het
Nhsl1	T	A	10: 18,284,186 (GRCm39)	D42E	probably damaging	Het
Nr0b2	C	A	4: 133,283,339 (GRCm39)	A192E	probably benign	Het
Nt5c1b	A	G	12: 10,425,000 (GRCm39)	D182G	possibly damaging	Het
Or12d14-ps1	T	C	17: 37,673,265 (GRCm39)	S86P	probably damaging	Het
Or4c115	A	T	2: 88,928,059 (GRCm39)	C71S	probably benign	Het
Or5b119	T	C	19: 13,457,170 (GRCm39)	T131A	probably benign	Het
Or5k15	T	C	16: 58,710,251 (GRCm39)	T111A	probably benign	Het
Or8b12	A	T	9: 37,658,089 (GRCm39)	I220F	probably damaging	Het
Pepd	A	G	7: 34,721,126 (GRCm39)	N250S	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pmp22	C	T	11: 63,049,233 (GRCm39)	R159C	probably damaging	Het
Pou3f1	C	T	4: 124,552,764 (GRCm39)	A422V	unknown	Het
Rab11fip3	A	G	17: 26,286,956 (GRCm39)	L399P	probably damaging	Het
Ryr2	A	G	13: 11,671,980 (GRCm39)	V3420A	probably benign	Het
Sez6	T	A	11: 77,864,082 (GRCm39)	Y521*	probably null	Het
Smc4	T	C	3: 68,914,645 (GRCm39)	V86A	probably damaging	Het
Stap2	T	A	17: 56,304,790 (GRCm39)	M331L	probably benign	Het
Syt8	G	A	7: 141,992,259 (GRCm39)	R89H	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trim21	G	T	7: 102,209,183 (GRCm39)	T280K	probably benign	Het
Trim36	C	A	18: 46,305,556 (GRCm39)	V476F	probably benign	Het
Troap	G	T	15: 98,973,511 (GRCm39)	R56L	probably benign	Het
Ttn	A	T	2: 76,667,130 (GRCm39)	I11492K	unknown	Het
Tuft1	T	C	3: 94,521,440 (GRCm39)	T390A	probably damaging	Het
Ucp1	T	C	8: 84,020,640 (GRCm39)	I150T	probably benign	Het
Usp17lb	A	T	7: 104,490,481 (GRCm39)	C149S	possibly damaging	Het
Vmn1r159	A	T	7: 22,542,665 (GRCm39)	N122K	possibly damaging	Het
Vmn1r237	T	C	17: 21,534,456 (GRCm39)	C60R	probably damaging	Het
Wdr12	A	T	1: 60,128,494 (GRCm39)	Y85*	probably null	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Wdr97	G	A	15: 76,244,832 (GRCm39)	E1125K		Het
Zan	T	C	5: 137,403,624 (GRCm39)	E3974G	unknown	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
R5169:Rragc	UTSW	4	123,829,457 (GRCm39)	missense	probably damaging	0.96
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
R9748:Rragc	UTSW	4	123,818,658 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TACCCTGACTTGAGGATTTAACAC -3'
(R):5'- AGGACTAAGCCAGCACTGAG -3'

Sequencing Primer
(F):5'- CCCACTTGATTTGTTAGATTACCAG -3'
(R):5'- AGCCTCCGCTGCTGAGAC -3'

Posted On

2020-01-23