Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01405:Rapgef5'

79787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rapgef5

Ensembl Gene

ENSMUSG00000041992

Gene Name

Rap guanine nucleotide exchange factor (GEF) 5

Synonyms

D030051B22Rik, mr-gef

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01405

Quality Score

Status

Chromosome

Chromosomal Location

117516479-117759737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 117721380 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 320 (T320K)

Ref Sequence

ENSEMBL: ENSMUSP00000152875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109691] [ENSMUST00000222105] [ENSMUST00000222185]

Predicted Effect

probably benign
Transcript: ENSMUST00000109691
AA Change: T522K

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: T522K

Domain	Start	End	E-Value	Type
DEP	44	118	2.07e-12	SMART
RasGEFN	300	434	3.12e-34	SMART
Blast:RasGEF	441	502	7e-31	BLAST
RasGEF	574	814	1.52e-100	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000222105
AA Change: T320K

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000222185
AA Change: T288K

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223173

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 35,964,010	R82W	probably damaging	Het
Atxn7	T	C	14: 14,100,105	V597A	probably benign	Het
Bsg	T	A	10: 79,711,514	M205K	probably benign	Het
Ccdc18	T	C	5: 108,202,186		probably benign	Het
Cdh1	T	C	8: 106,649,001	V57A	probably damaging	Het
Ddost	A	G	4: 138,311,703	D378G	probably damaging	Het
Depdc5	A	G	5: 32,937,689	E779G	possibly damaging	Het
Elp5	T	C	11: 69,969,136	R250G	probably damaging	Het
Gnb1	A	G	4: 155,543,188	H142R	probably damaging	Het
Ift172	G	T	5: 31,261,852	Y1148*	probably null	Het
Kif5a	T	C	10: 127,245,990	N153S	probably damaging	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Man2a2	T	A	7: 80,360,934	M770L	probably benign	Het
Msh2	T	C	17: 87,678,235	L80P	probably damaging	Het
Naip5	A	T	13: 100,221,945	S928T	probably benign	Het
Olfr855	T	A	9: 19,585,205	S223T	probably benign	Het
Pla2g4d	T	C	2: 120,266,823	N765S	probably benign	Het
Plcb4	C	T	2: 135,950,347	T330I	probably damaging	Het
Ppp3ca	A	G	3: 136,868,721	I127V	probably benign	Het
Rbfa	A	G	18: 80,192,865	V223A	probably benign	Het
Rfx7	A	G	9: 72,610,344	M187V	probably benign	Het
Ric1	T	C	19: 29,567,370		probably benign	Het
Slc22a16	C	T	10: 40,585,195	T331M	probably benign	Het
Slc34a1	T	C	13: 55,412,128	S303P	probably damaging	Het
Slfn3	T	C	11: 83,214,716	V513A	possibly damaging	Het
Tbce	A	T	13: 14,003,695	I370N	probably damaging	Het
Zfp358	G	A	8: 3,495,663	D109N	probably benign	Het
Zfp523	T	C	17: 28,204,506	S152P	probably damaging	Het
Zfp961	A	G	8: 71,967,934	N78S	possibly damaging	Het

Other mutations in Rapgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Rapgef5	APN	12	117714182	missense	probably damaging	0.99
IGL01611:Rapgef5	APN	12	117753419	splice site	probably benign
IGL01720:Rapgef5	APN	12	117613435	splice site	probably benign
IGL01958:Rapgef5	APN	12	117730651	missense	probably benign	0.24
IGL02093:Rapgef5	APN	12	117719132	missense	probably damaging	0.98
IGL03210:Rapgef5	APN	12	117742872	missense	probably damaging	1.00
IGL03370:Rapgef5	APN	12	117730559	missense	probably damaging	1.00
IGL03397:Rapgef5	APN	12	117748441	missense	probably damaging	1.00
R0026:Rapgef5	UTSW	12	117689161	missense	probably benign	0.11
R0026:Rapgef5	UTSW	12	117689161	missense	probably benign	0.11
R0100:Rapgef5	UTSW	12	117721299	missense	probably benign	0.05
R0173:Rapgef5	UTSW	12	117688676	missense	probably benign	0.00
R0834:Rapgef5	UTSW	12	117647121	splice site	probably benign
R1331:Rapgef5	UTSW	12	117721349	missense	probably benign	0.04
R1505:Rapgef5	UTSW	12	117688619	missense	possibly damaging	0.92
R1546:Rapgef5	UTSW	12	117647101	missense	probably benign	0.00
R1577:Rapgef5	UTSW	12	117595291	missense	probably benign	0.28
R1597:Rapgef5	UTSW	12	117658320	missense	probably damaging	1.00
R1824:Rapgef5	UTSW	12	117688684	critical splice donor site	probably null
R2065:Rapgef5	UTSW	12	117584119	nonsense	probably null
R2117:Rapgef5	UTSW	12	117714064	intron	probably null
R2169:Rapgef5	UTSW	12	117715395	missense	probably benign	0.25
R2903:Rapgef5	UTSW	12	117714119	missense	probably damaging	1.00
R3983:Rapgef5	UTSW	12	117728670	missense	possibly damaging	0.49
R4004:Rapgef5	UTSW	12	117748397	missense	probably damaging	0.99
R4652:Rapgef5	UTSW	12	117714128	missense	probably damaging	0.99
R4830:Rapgef5	UTSW	12	117756074	missense	probably damaging	1.00
R5282:Rapgef5	UTSW	12	117739644	missense	probably damaging	1.00
R5348:Rapgef5	UTSW	12	117688611	missense	probably benign	0.24
R5456:Rapgef5	UTSW	12	117728646	splice site	probably null
R5502:Rapgef5	UTSW	12	117721329	missense	probably damaging	1.00
R5741:Rapgef5	UTSW	12	117756029	missense	probably damaging	0.99
R5771:Rapgef5	UTSW	12	117721326	missense	probably benign	0.45
R5905:Rapgef5	UTSW	12	117748426	missense	probably damaging	1.00
R5941:Rapgef5	UTSW	12	117728738	missense	probably damaging	1.00
R6228:Rapgef5	UTSW	12	117721663	intron	probably null
R6233:Rapgef5	UTSW	12	117739718	critical splice donor site	probably null
R6376:Rapgef5	UTSW	12	117721253	missense	probably damaging	1.00
R6475:Rapgef5	UTSW	12	117718207	missense	probably damaging	1.00
R7063:Rapgef5	UTSW	12	117689129	missense	possibly damaging	0.91
R7410:Rapgef5	UTSW	12	117721328	missense	probably damaging	1.00
R7445:Rapgef5	UTSW	12	117755969	missense	probably benign	0.00
R7690:Rapgef5	UTSW	12	117721370	missense	possibly damaging	0.72
R7707:Rapgef5	UTSW	12	117715344	missense	probably damaging	1.00
R7815:Rapgef5	UTSW	12	117755967	missense	probably benign	0.10
X0018:Rapgef5	UTSW	12	117718215	missense	probably damaging	1.00

Posted On

2013-11-05