Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03210:Rapgef5'

413257

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 #

IGL03210

Quality Score

Status

Chromosome

Chromosomal Location

117516479-117759737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117742872 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 697 (K697E)

Ref Sequence

ENSEMBL: ENSMUSP00000105313 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109691
AA Change: K697E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: K697E

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

noncoding transcript
Transcript: ENSMUST00000222035

Predicted Effect

probably damaging
Transcript: ENSMUST00000222105
AA Change: K495E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222185
AA Change: K463E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,284,438	F9L	probably benign	Het
Adora3	T	C	3: 105,907,860	S163P	probably benign	Het
C3	G	A	17: 57,215,846	Q1013*	probably null	Het
Cacna1b	A	T	2: 24,650,572	F1381Y	probably benign	Het
Dcdc2b	T	C	4: 129,611,785	K95R	probably benign	Het
Dnah8	A	G	17: 30,815,665	E4186G	probably damaging	Het
Dock1	T	C	7: 134,756,939	V374A	possibly damaging	Het
Gramd3	A	G	18: 56,474,098	T95A	probably benign	Het
Grk2	C	T	19: 4,287,829	E508K	probably benign	Het
Hmgb4	A	G	4: 128,260,742	V11A	probably benign	Het
Knl1	G	A	2: 119,070,617	S933N	probably benign	Het
Ldlrad3	G	A	2: 102,069,926		probably benign	Het
Lrrc37a	T	A	11: 103,499,505	Y1698F	probably benign	Het
Ms4a14	A	G	19: 11,301,961	W1078R	possibly damaging	Het
Nol4l	G	A	2: 153,529,458	P102L	probably benign	Het
Nsun3	A	G	16: 62,770,747	F178L	probably damaging	Het
Nup85	T	A	11: 115,566,636	Y55N	probably benign	Het
Olfr1006	T	C	2: 85,674,353	Y266C	probably damaging	Het
Olfr512	T	A	7: 108,713,568	Y60N	probably damaging	Het
Olfr740	A	T	14: 50,453,983	R310S	probably benign	Het
Opcml	A	G	9: 28,901,537	E175G	probably damaging	Het
Pask	A	T	1: 93,319,992	W1074R	possibly damaging	Het
Pdzrn3	T	C	6: 101,156,952	T439A	possibly damaging	Het
Pkd1l1	C	A	11: 8,965,127	V138L	unknown	Het
Ptprj	C	A	2: 90,469,726	V244L	probably benign	Het
Rnf165	C	A	18: 77,466,739	V60L	probably damaging	Het
Rp9	G	T	9: 22,457,428	H78Q	probably benign	Het
Serpinb8	A	G	1: 107,602,911	T140A	probably damaging	Het
Slc29a4	A	T	5: 142,715,108	M203L	probably damaging	Het
Stag1	T	A	9: 100,845,076	L363I	possibly damaging	Het
Susd1	T	G	4: 59,333,035		probably null	Het
Thoc3	A	T	13: 54,466,222	M196K	probably benign	Het
Tnr	A	G	1: 159,888,310	T881A	probably benign	Het
Ttbk2	A	G	2: 120,822,492	V17A	probably damaging	Het
Ttc41	T	A	10: 86,724,414		probably null	Het
Utp14b	A	G	1: 78,665,551	M389V	probably benign	Het
Utp4	T	A	8: 106,916,256	H515Q	probably benign	Het
Xpo1	A	G	11: 23,278,834	H223R	probably benign	Het
Xpot	A	G	10: 121,615,227		probably benign	Het
Zfp455	A	T	13: 67,207,049	H127L	possibly damaging	Het
Zscan4e	T	A	7: 11,307,532	M166L	probably benign	Het

Other mutations in Rapgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Rapgef5	APN	12	117714182	missense	probably damaging	0.99
IGL01405:Rapgef5	APN	12	117721380	missense	probably benign	0.16
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
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
Z1176:Rapgef5	UTSW	12	117595288	missense	not run
Z1177:Rapgef5	UTSW	12	117688997	missense	not run

Posted On

2016-08-02