Mutagenetix > Incidental Mutation

Incidental Mutation 'R4272:Rragd'

322206

Institutional Source

Beutler Lab

Gene Symbol

Rragd

Ensembl Gene

ENSMUSG00000028278

Gene Name

Ras-related GTP binding D

Synonyms

D4Ertd174e, C030003H22Rik, 5730543C08Rik

MMRRC Submission

041644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4272 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32983037-33022180 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 32996099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029946] [ENSMUST00000084747] [ENSMUST00000098190]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000029946

SMART Domains

Protein: ENSMUSP00000029946
Gene: ENSMUSG00000028278

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:Arf	105	291	9.5e-9	PFAM
Pfam:SRPRB	114	220	1.2e-7	PFAM
Pfam:Gtr1_RagA	118	344	3.2e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084747

SMART Domains

Protein: ENSMUSP00000081799
Gene: ENSMUSG00000028278

Domain	Start	End	E-Value	Type
Pfam:Gtr1_RagA	24	169	1.5e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098190

SMART Domains

Protein: ENSMUSP00000095792
Gene: ENSMUSG00000028278

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:Arf	51	236	8.2e-9	PFAM
Pfam:SRPRB	59	166	9.5e-8	PFAM
Pfam:Gtr1_RagA	63	289	9.9e-75	PFAM

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	A	17: 43,021,013 (GRCm39)	T604S	probably damaging	Het
Ago3	T	A	4: 126,248,884 (GRCm39)	T556S	possibly damaging	Het
Arap2	T	C	5: 62,828,322 (GRCm39)	I950V	possibly damaging	Het
Arl5b	A	G	2: 15,077,990 (GRCm39)	E105G	probably damaging	Het
Capza3	A	G	6: 139,988,264 (GRCm39)	I288V	probably benign	Het
Chka	G	A	19: 3,925,737 (GRCm39)		probably benign	Het
Cnpy4	G	T	5: 138,190,853 (GRCm39)	V159F	probably damaging	Het
Crb1	T	C	1: 139,251,049 (GRCm39)	I301V	probably benign	Het
Disp1	T	A	1: 182,869,208 (GRCm39)	I1071F	possibly damaging	Het
Dlec1	C	T	9: 118,972,231 (GRCm39)	A1417V	probably damaging	Het
Dlgap1	T	A	17: 71,073,038 (GRCm39)	S686T	probably benign	Het
Dync1li2	A	G	8: 105,149,775 (GRCm39)	S411P	probably damaging	Het
Efnb2	T	A	8: 8,670,698 (GRCm39)	S301C	probably damaging	Het
Enpp4	T	C	17: 44,412,698 (GRCm39)	N279D	probably benign	Het
Exoc3	A	G	13: 74,340,763 (GRCm39)	V347A	probably damaging	Het
Ezh1	A	G	11: 101,085,734 (GRCm39)	F641S	probably damaging	Het
Gcgr	T	A	11: 120,429,250 (GRCm39)		probably benign	Het
Gm4887	G	T	7: 104,470,535 (GRCm39)		noncoding transcript	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Htt	G	A	5: 35,006,413 (GRCm39)	V1441I	possibly damaging	Het
Ift70a1	A	G	2: 75,810,818 (GRCm39)	Y422H	probably damaging	Het
Lmtk2	A	G	5: 144,120,044 (GRCm39)	M1398V	probably benign	Het
Lrrc15	T	C	16: 30,092,673 (GRCm39)	N222S	probably benign	Het
Mctp2	A	T	7: 71,909,079 (GRCm39)	V78E	possibly damaging	Het
Medag	A	G	5: 149,345,628 (GRCm39)	Y103C	probably damaging	Het
Mphosph9	G	A	5: 124,442,266 (GRCm39)	P361S	probably damaging	Het
Npffr2	G	A	5: 89,715,882 (GRCm39)	V70M	probably damaging	Het
Obox3-ps8	A	C	17: 36,763,909 (GRCm39)		noncoding transcript	Het
Or4c117	A	G	2: 88,955,706 (GRCm39)	V123A	probably damaging	Het
Pdgfra	G	A	5: 75,343,731 (GRCm39)	V751I	probably benign	Het
Phykpl	T	C	11: 51,476,355 (GRCm39)	L25P	probably damaging	Het
Rgl1	A	T	1: 152,412,040 (GRCm39)	I443N	probably benign	Het
Riok3	AGAAGCGG	AG	18: 12,268,998 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,793,483 (GRCm39)	M30K	probably damaging	Het
Rusc2	T	A	4: 43,415,533 (GRCm39)	C280S	probably damaging	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Skp2	C	A	15: 9,116,947 (GRCm39)		probably null	Het
Slc52a3	T	A	2: 151,847,660 (GRCm39)	I256N	possibly damaging	Het
Sycp2	A	T	2: 178,000,017 (GRCm39)	D986E	probably benign	Het
Tas1r1	T	C	4: 152,116,614 (GRCm39)	E340G	possibly damaging	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Trhr	G	A	15: 44,060,620 (GRCm39)	V47I	probably damaging	Het
Trpm2	A	T	10: 77,769,476 (GRCm39)	N749K	probably damaging	Het
Ttc27	T	A	17: 75,147,355 (GRCm39)	W636R	probably damaging	Het
Ttn	C	A	2: 76,608,691 (GRCm39)	R17775L	probably damaging	Het
Vmn2r55	A	G	7: 12,402,106 (GRCm39)	F394S	probably benign	Het
Zfp52	C	A	17: 21,780,459 (GRCm39)	Y102*	probably null	Het
Zyx	A	G	6: 42,327,880 (GRCm39)	D70G	probably damaging	Het

Other mutations in Rragd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Rragd	APN	4	33,007,219 (GRCm39)	splice site	probably benign
R0432:Rragd	UTSW	4	33,004,332 (GRCm39)	missense	probably damaging	0.98
R0542:Rragd	UTSW	4	33,007,103 (GRCm39)	missense	probably damaging	1.00
R1521:Rragd	UTSW	4	32,996,005 (GRCm39)	missense	probably damaging	0.96
R4090:Rragd	UTSW	4	33,007,155 (GRCm39)	missense	probably damaging	1.00
R4812:Rragd	UTSW	4	33,018,766 (GRCm39)	missense	probably benign	0.11
R4817:Rragd	UTSW	4	32,995,072 (GRCm39)	missense	probably benign
R6235:Rragd	UTSW	4	32,995,985 (GRCm39)	missense	possibly damaging	0.78
R7124:Rragd	UTSW	4	32,996,027 (GRCm39)	missense	possibly damaging	0.83
R7532:Rragd	UTSW	4	33,004,166 (GRCm39)	missense	possibly damaging	0.72
R7640:Rragd	UTSW	4	32,983,527 (GRCm39)	missense	probably benign	0.09
R8280:Rragd	UTSW	4	32,995,112 (GRCm39)	missense	probably benign
R8479:Rragd	UTSW	4	33,018,734 (GRCm39)	missense	probably benign
R8813:Rragd	UTSW	4	33,012,953 (GRCm39)	missense	possibly damaging	0.59
R9027:Rragd	UTSW	4	32,996,083 (GRCm39)	missense	probably damaging	0.96
R9220:Rragd	UTSW	4	32,995,924 (GRCm39)	missense	probably damaging	1.00
R9643:Rragd	UTSW	4	33,012,998 (GRCm39)	missense	probably benign	0.00
RF040:Rragd	UTSW	4	32,995,150 (GRCm39)	intron	probably benign
RF061:Rragd	UTSW	4	32,995,150 (GRCm39)	intron	probably benign
Z1177:Rragd	UTSW	4	33,005,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCGTCTATCCAGAAAGTCGTC -3'
(R):5'- AGCTACAGGTACTTGGCTCAG -3'

Sequencing Primer
(F):5'- GTCTTTCACAAAATGTCCCCGAG -3'
(R):5'- AGGCCTCACAACCTGATCTTG -3'

Posted On

2015-06-20